cntnap5

Ensembl ID:
ENSDARG00000073802
Human Orthologue:
CNTNAP5
Human Description:
contactin associated protein-like 5 [Source:HGNC Symbol;Acc:18748]
Mouse Orthologues:
Cntnap5a, Cntnap5b, Cntnap5c
Mouse Descriptions:
contactin associated protein-like 5A Gene [Source:MGI Symbol;Acc:MGI:3643623]
contactin associated protein-like 5B Gene [Source:MGI Symbol;Acc:MGI:3664583]
contactin associated protein-like 5C Gene [Source:MGI Symbol;Acc:MGI:3646013]

Alleles

There are 8 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa13748 Nonsense Available for shipment Available now
sa21940 Essential Splice Site Available for shipment Available now
sa45432 Nonsense Mutation detected in F1 DNA During 2018
sa8838 Nonsense Mutation detected in F1 DNA During 2018
sa21941 Essential Splice Site Available for shipment Available now
sa13789 Essential Splice Site Available for shipment Available now
sa14172 Essential Splice Site Available for shipment Available now
sa9104 Nonsense Mutation detected in F1 DNA During 2018

Mutation Details

Allele Name:
sa13748
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111193 Nonsense 80 1310 3 24
Genomic Location (Zv9):
Chromosome 11 (position 34313838)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 33214775
GRCz11 11 33477577
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TAGGAGGTGGGGGGTGGTCTCCRAGCGGAGAAGACCAGCAMCCTTGGCTT[C/T]AGCTGGACCTACGGGAYAGGTTGAAGGTCACATCCATTGCCACCCAGGGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21940
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:
A > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111193 Essential Splice Site 246 1310 6 24
Genomic Location (Zv9):
Chromosome 11 (position 34347148)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 33248085
GRCz11 11 33510887
KASP Assay ID:
2260-4486.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AATGTTTGCTTATGTTGTCCAGTCTATGTTTCTAGTGTCTTTCTCTGTAC[A/T]GATGATGCCAAGCCCCAGTCTGGTGGTCGCTCATCATCTGTCATGTTAGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa45432
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 2018.
Mutation:
C > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111193 Nonsense 336 1310 7 24
Genomic Location (Zv9):
Chromosome 11 (position 34350993)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 33251930
GRCz11 11 33514732
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GGGACGTTTCTTCATGAAAATTTCCATGGCTGCATAGAGAACCTCAACTA[C/A]AACGGCGTCAATGTCATCGACATGGCAAAGAGACGAAAGCCACAGATTTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa8838
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 2018.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111193 Nonsense 348 1310 7 24
Genomic Location (Zv9):
Chromosome 11 (position 34351027)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 33251964
GRCz11 11 33514766
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TAGAGAAYCTCAACTACAACGGCGTCAATGTCATCGACATGGCAAAGMGA[C/T]GAAAGCCACAGATTTATACCGTGGTAAGTTTGAANNNGAACAATCGCAWT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21941
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:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111193 Essential Splice Site 495 1310 9 24
Genomic Location (Zv9):
Chromosome 11 (position 34357764)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 33258701
GRCz11 11 33521503
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AATCACTGGACGTAGCCAAACCCCCCAGAGAACAACCATCTACATTGGAG[G/A]TACAGCATTAGAAATGCAAAAAGTCAGTTTATTCTTACTAGCTGTATTCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa13789
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:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111193 Essential Splice Site 553 1310 10 24
Genomic Location (Zv9):
Chromosome 11 (position 34358554)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 33259491
GRCz11 11 33522293
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ATGGGCAACTTTAGCCAGATTAGCTTTGATGTTTGCAACATACAAGWTAG[G/A]TCTGTTTCMCTGTGTGTGCNNGTGTGTGTGTCTGTGTTTATGTGAATCAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa14172
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:
G > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111193 Essential Splice Site 921 1310 18 24
Genomic Location (Zv9):
Chromosome 11 (position 34373505)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 33274442
GRCz11 11 33537244
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CTTGGCTTTGTAAATTGCCRAGACAAYTAATCATTGTAATCTCCCCATTA[G/T]GAGGAACGGCTTCAAGGCAGAGGGGCTTCGTGGGCTGCTTACGCGCKCTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa9104
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 2018.
Mutation:
G > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111193 Nonsense 1025 1310 19 24
Genomic Location (Zv9):
Chromosome 11 (position 34375845)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 33276782
GRCz11 11 33539584
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GGTCTTCAGTCCTGTATACTCTCCAKGAGCCATTTTCTGGGATACTAAAC[G/T]AGGAAGCCAGAAGWWCGCCGGCTGGTTTCCATGATGCAGAAGTTGCCAAG
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/.)

OMIM

OMIM information for CNTNAP5

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