itpr2

Ensembl ID:
ENSDARG00000011909
ZFIN ID:
ZDB-GENE-050419-192
Description:
Novel protein [Source:UniProtKB/TrEMBL;Acc:A8HAL5]
Human Orthologue:
ITPR2
Human Description:
inositol 1,4,5-triphosphate receptor, type 2 [Source:HGNC Symbol;Acc:6181]
Mouse Orthologue:
Itpr2
Mouse Description:
inositol 1,4,5-triphosphate receptor 2 Gene [Source:MGI Symbol;Acc:MGI:99418]

Alleles

There are 8 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa794 Essential Splice Site Available for shipment Available now
sa13636 Essential Splice Site Available for shipment Available now
sa14152 Essential Splice Site Available for shipment Available now
sa36608 Nonsense Mutation detected in F1 DNA During 2016
sa10652 Nonsense Available for shipment Available now
sa9038 Nonsense Mutation detected in F1 DNA During 2016
sa39196 Splice Site, Nonsense Mutation detected in F1 DNA During 2016
sa23267 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa794
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Mutation:
T > G
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000061134 Essential Splice Site 31 1947 1 42
Genomic Location (Zv9):
Chromosome 18 (position 15616779)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 15969191
KASP Assay ID:
554-0699.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TGTCTCTGTATGCGGAGGGAACTGTCAATGGATTTATCAGCACTTTAGGG[T/G]GAGTTACTGTACCTTCCAGTGTTTAGTGCATTGCTCTTAAAGATTTGTAA
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:
sa13636
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
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Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000061134 Essential Splice Site 236 1947 7 42
ENSDART00000061134 Essential Splice Site 236 1947 7 42
Genomic Location (Zv9):
Chromosome 18 (position 15641937)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 15994349
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GACGCTCTTCAWGAAGTTCAGTGAATACAGAGATGATAYTTTAAAAGGGG[T/C]GAGTCTTYTGCATGTGTGMACTGATGCGTTRTTGGTTTGGGTTTGTTTTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa14152
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000061134 Essential Splice Site 236 1947 7 42
ENSDART00000061134 Essential Splice Site 236 1947 7 42
Genomic Location (Zv9):
Chromosome 18 (position 15641937)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 15994349
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GACGCTCTTCAWGAAGTTCAGTGAATACAGAGATGATAYTTTAAAAGGGG[T/C]GAGTCTTYTGCATGTGTGMACTGATGCGTTRTTGGTTTGGGTTTGTTTTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa36608
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
ENSDART00000061134 Nonsense 707 1947 18 42
Genomic Location (Zv9):
Chromosome 18 (position 15660651)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 16013063
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AGCCTCATGGAAAGTCTATTCGCCACCTGGCACAGGATGCCAAGGATGGA[C/T]AAAAGTTGGACACGGACATCATCACCTATTACAGGTAATGGTAAAACCAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa10652
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
Mutation:
T > G
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000061134 Nonsense 1332 1947 31 42
Genomic Location (Zv9):
Chromosome 18 (position 15676255)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 16028667
KASP Assay ID:
2261-2007.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CTGCAAAGCATGATGTGTTCAGGGCTGGATGAGACGGGGGCTCTGATGTA[T/G]CACATCACCYTGGTGGAGCTGCTGGCCGCCTGCACTGAGGGCAAGAACGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa9038
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
ENSDART00000061134 Nonsense 1541 1947 35 42
Genomic Location (Zv9):
Chromosome 18 (position 15680378)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 16032790
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CCAGCATGGTGCAGCGAGCGGTTAAAGACTGGAGGCTGTCAGCCCGTGGA[C/T]GACCCCGCAAGGARCCCTTTGGAGCACATGATTACAAGATCATTGAAAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa39196
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:
Splice Site, Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000061134 Splice Site, Nonsense 1608 1947 37 42
Genomic Location (Zv9):
Chromosome 18 (position 15683837)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 16036249
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AATCTCCTTTTTATAATGGAAGTTTTGTGTGAAATATTATCTTTTCTCAG[G/A]CTCATCAAGCACACCAAGAAACTAATGGAGAAAGAGGAGAAGTTGTGCAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa23267
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000061134 Nonsense 1892 1947 42 42
Genomic Location (Zv9):
Chromosome 18 (position 15721325)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 16073737
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TTCTCTTGTATACAGAACTTTCTGCGAGATCAGAACAACAAAACCAATTA[T/A]AACCTGGTGTGTGAGACGCTGCAGTTTCTCGACTGTATCTGCGGCAGTAC
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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