lrp2

Ensembl ID:
ENSDARG00000060649
ZFIN ID:
ZDB-GENE-050119-2
Description:
low-density lipoprotein receptor-related protein 2 [Source:RefSeq peptide;Acc:NP_001181916]
Human Orthologue:
LRP2
Human Description:
low density lipoprotein receptor-related protein 2 [Source:HGNC Symbol;Acc:6694]
Mouse Orthologue:
Lrp2
Mouse Description:
low density lipoprotein receptor-related protein 2 Gene [Source:MGI Symbol;Acc:MGI:95794]

Alleles

There are 13 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa41550 Nonsense Mutation detected in F1 DNA During 2016
sa34763 Nonsense Mutation detected in F1 DNA During 2016
sa25440 Nonsense Mutation detected in F1 DNA During 2016
sa34764 Nonsense Mutation detected in F1 DNA During 2016
sa38765 Nonsense Mutation detected in F1 DNA During 2016
sa17023 Essential Splice Site Available for shipment Available now
sa25 Essential Splice Site Confirmed mutation in F2 line During 2016
sa18967 Essential Splice Site Mutation detected in F1 DNA During 2016
sa21599 Nonsense Available for shipment Available now
sa34765 Nonsense Mutation detected in F1 DNA During 2016
sa41551 Nonsense Mutation detected in F1 DNA During 2016
sa34766 Essential Splice Site Mutation detected in F1 DNA During 2016
sa21600 Nonsense Mutation detected in F1 DNA During 2016

Mutation Details

Allele Name:
sa41550
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
G > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000085697 Nonsense 115 4632 3 77
ENSDART00000129237   None 3092 None 50
Genomic Location (Zv9):
Chromosome 9 (position 49451970)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 48766588
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CTGGAGGATACAGGTGTGACAGAGTGCCCGACTGTCTGGATGGAGCAGAC[G/T]AGAGGAACTGCTGTAAGTGTGCTCGTGACATCTGATCAAGCCTGTTTACA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa34763
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000085697 Nonsense 191 4632 5 77
ENSDART00000129237   None 3092 None 50
ENSDART00000085697 Nonsense 191 4632 5 77
ENSDART00000129237   None 3092 None 50
Genomic Location (Zv9):
Chromosome 9 (position 49457146)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 48771764
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GAGGCTACATCTGCGATCATGATGACGATTGCGGAGACAGAAGTGATGAA[C/T]AAAACTGCAGTACGTACATTTCATTTATTCATTCATTTTCTTTTGCCCCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa25440
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000085697 Nonsense 191 4632 5 77
ENSDART00000129237   None 3092 None 50
ENSDART00000085697 Nonsense 191 4632 5 77
ENSDART00000129237   None 3092 None 50
Genomic Location (Zv9):
Chromosome 9 (position 49457146)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 48771764
KASP Assay ID:
554-7650.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GAGGCTACATCTGCGATCATGATGACGATTGCGGAGACAGAAGTGATGAA[C/T]AAAACTGCAGTACGTACATTTCATTTATTCATTCATTTTCTTTTGCCCCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa34764
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
G > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000085697 Nonsense 766 4632 16 77
ENSDART00000129237   None 3092 None 50
Genomic Location (Zv9):
Chromosome 9 (position 49492966)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 48807584
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GGTTTTGGCAGCCAATCGGGTGGACGGAGTGGAAGATCTGGCATATGATT[G/A]GATATCGAAGAACTTATACTGGACGGATCCACGTTACAGGAGTATTTCTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa38765
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000085697 Nonsense 1053 4632 21 77
ENSDART00000129237   None 3092 None 50
Genomic Location (Zv9):
Chromosome 9 (position 49507919)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 48822537
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GGCTCACAGATAACACTTGCTCGCCCCTTGCCTTCACCTGTGCCAATCAG[C/T]GATGTGTGCCCAGAAGCTGGCACTGCGACGGACACAATGACTGTTTTGAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa17023
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000085697 Essential Splice Site 3366 4632 50 77
ENSDART00000129237 Essential Splice Site 1826 3092 23 50
Genomic Location (Zv9):
Chromosome 9 (position 49660743)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 48915939
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ACACCAACGACAAACTCTACTGGTCTGAYGCTCATCTCAACTACATTGAG[T/C]AAGACTCGCTCAGGYTTATATTCTGGGTGATTTAGTTAAATTCAATTYAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa25
Current Status:
Confirmed mutation in F2 line
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000085697 Essential Splice Site 3565 4632 53 77
ENSDART00000129237 Essential Splice Site 2025 3092 26 50
Genomic Location (Zv9):
Chromosome 9 (position 49669867)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 48925063
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CTCCAATCAGGACTGTCCCGACGGCTCCGATGAGGACACTGTGCTCTGTG[G/A]TACGGAACAATATAATGATATATAATTTTCCACAAATTGATGTGATTTAT
Associated Phenotype:

Normal

Stage Entity Quality Tag
Larval:Day 5
ZFS:0000037
whole organism
ZFA:0001094
quality
PATO:0000001
normal
PATO:0000461

Mutation Details

Allele Name:
sa18967
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
A > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000085697 Essential Splice Site 3648 4632 55 77
ENSDART00000129237 Essential Splice Site 2108 3092 28 50
Genomic Location (Zv9):
Chromosome 9 (position 49675097)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 48930293
KASP Assay ID:
2260-2531.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GATTTCAGGGTGACTTTAAGTGTAATGCAGTATTTTTCTCTGTTGTTTGC[A/T]GTGGGTCCGGCGTACAGATGTGACAATCACACAGAGTTTGACTGCAGGAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21599
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000085697 Nonsense 3825 4632 59 77
ENSDART00000129237 Nonsense 2285 3092 32 50
Genomic Location (Zv9):
Chromosome 9 (position 49688919)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 48944115
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GCCACACGCTACCCGAACAGCACCTACTGTCCACCCTTCCTGTTTGAGTG[T/A]AAGAACCATGTGTGTGTGCAGCAGCACTGGATATGTGATGGAGATAATGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa34765
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
G > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000085697 Nonsense 4263 4632 68 77
ENSDART00000129237 Nonsense 2723 3092 41 50
Genomic Location (Zv9):
Chromosome 9 (position 49703559)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 48958755
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GACATCGGCCACCCCTACAGTCTGGATGTGTTCGAGGGCCACGTTTACTG[G/A]ACGACTAAAGAGAAGGGAGAAGTGTGGAAGAAAGATAAGTTCGGGAAAGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa41551
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
G > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000085697 Nonsense 4363 4632 70 77
ENSDART00000129237 Nonsense 2823 3092 43 50
Genomic Location (Zv9):
Chromosome 9 (position 49707614)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 48962810
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CAGCCATTGAGGCCGAGGTGTCCATGCCGCTTGCATGCAGATGCATGAAT[G/T]GAGGAACGTGCTTCACTGATGAAGGAGGCCTGCCCAAGTGCAAGTGAGTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa34766
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
G > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000085697 Essential Splice Site 4481 4632 73 77
ENSDART00000129237 Essential Splice Site 2941 3092 46 50
Genomic Location (Zv9):
Chromosome 9 (position 49712087)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 48967283
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TGGAGCCGCAGACTCTCGGGGTGTCCTTCATTGACAGGGCTATGCAGCTG[G/T]TAAATCTCCATCATTTCACGCTAACTGTTTAGTCGGGGAGGAATGGGGGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21600
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000085697 Nonsense 4536 4632 75 77
ENSDART00000129237 Nonsense 2996 3092 48 50
Genomic Location (Zv9):
Chromosome 9 (position 49712960)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 48968156
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GTGAACGTCAGTGCGGACCAGGTGGACAATAACTTCTCAAACCCCACATA[T/A]CAGCAGGCAGTGGAGGTGAAGAGCGAACAAGTAGAGGAGAAAAACACACA
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

(GWAS data comes from http://www.genome.gov/gwastudies/.)

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