Busch Lab

ZMP

gabrb2

Ensembl ID:
ENSDARG00000079586
ZFIN ID:
ZDB-GENE-030131-8196
Description:
gamma-aminobutyric acid A receptor, beta 2 [Source:RefSeq peptide;Acc:NP_001019558]
Human Orthologue:
GABRB2
Human Description:
gamma-aminobutyric acid (GABA) A receptor, beta 2 [Source:HGNC Symbol;Acc:4082]
Mouse Orthologue:
Gabrb2
Mouse Description:
gamma-aminobutyric acid (GABA) A receptor, subunit beta 2 Gene [Source:MGI Symbol;Acc:MGI:95620]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa35684 Essential Splice Site, Splice Site Mutation detected in F1 DNA Not yet available
sa12791 Essential Splice Site Available for shipment Available now
sa44807 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa35685 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa35684
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
C > A
Consequence:
Essential Splice Site, Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000114750 Splice Site None 519 None 10
ENSDART00000148259 Essential Splice Site None 436 4 10
Genomic Location (Zv9):
Chromosome 14 (position 23211368)
Other Location(s):
Assembly Chromosome Position
GRCz10 14 21911158
GRCz11 14 22208403
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTCACGTTTGCTCAAAATTCTGATGTTTTTCCTGATGGTGCTCTTATTTC[C/A]AGGACTACACCCTGACTATGTATTTCCAGCAAGCCTGGCGAGACAAGCGA
Long Flanking Sequence:
ACTAATTAGTATTTTTTTCTTTGCATATATGGACTCATACTTATTTCCCTGACTGTATTTCCTATGTGTTGTTTATATTACATATGTAAAAATGGGAATGACAGTTCTTTACTTAAAAATATTATAATTTTTCTCAGTATTACTGTTTTTACTGTATTTTTGGATTAAAACAACAATCCCAAAATAATAAACAGTGGAGTAAAGCCTTCTACAAAACTAAAGGATTAGATTAGGTGGGCTTGACATTTGCAGGTCACCACTTTTCAAAGTGTGCTTTGAAATATTCATATTAAATACTTAAATATGAATTACAGCTTGGGTTAAATATTTATGACACCTCTTATTAATATTAAATATTGATGTAAACACAAAGTAGTGTTAGTTCCTTGTTGATAAAGTGCATGCATATTCTTTTAACCTGGATACAGTGTGAGTAAAACAGAATACAATGTCACGTTTGCTCAAAATTCTGATGTTTTTCCTGATGGTGCTCTTATTTC[C/A]AGGACTACACCCTGACTATGTATTTCCAGCAAGCCTGGCGAGACAAGCGATTGTCTTACTCGGAGATTCCTCTCAATCTAACCTTGGATAACCGCGTGGCTGACCAGCTGTGGGTGCCCGACACCTATTTCCTCAACGACAAGAAGTCCTTCGTTCACGGAGTGACGGTCAAGAACCGAATGATACGCCTTCACCCTGACGGCACCGTTCTATACGGATTAAGGTACGCTCTTGGAGGTCATTGTCACTGTGGTTATTGACCTGTAATCATCACATCGGCCAGAGGTTGTTTAACTCCTCTCATAATTCTATTCCTGCTCTGGTTTGCGCACCACCCACATGCATGTTCTGGGGCCTGTTTTTATTTTCCTTGCTGCTGATGCATTATGCCGGTGTAAATGACTCAACATCGGCGTCTATGTTTAGAAGGGATGAAATTGTTGTTGCTAATTCCAAAGCTGCATATTGTGCTCTCTGTTCCTCAGCCTGACAGCGGCGTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa12791
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
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000114750 Essential Splice Site 226 519 6 10
ENSDART00000148259 Essential Splice Site 143 436 6 10
Genomic Location (Zv9):
Chromosome 14 (position 23252408)
Other Location(s):
Assembly Chromosome Position
GRCz10 14 21952198
GRCz11 14 22249443
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TCCATCGTAGACTATAAACTCATCTCCAAGAACGTGGTCTTCTCCACAGG[T/C]TCAGTTTAATCTCTTTCGTGTGTGTCGTACAGYTGGGACCATGAGTCAGA
Long Flanking Sequence:
TCGGTAAACTGGTTTAAATAATTAAAATAATTAAATAAATAATTACAGATTTCCAACATTCTTTAAAGTATTTTCTTTTGTGATTGATAAAGATTTAAAACATTTTCATTCAATATTTAGGTGAACTATTTTCCAGTACTGGGTTGTAGCTGGAAGGATATCTGCTGGAATATTTGGCAGTTCATTCTGCTGTTGTGATCCCTGATATATAAGGAACTAAGCGGAAGAAAAATGAATGATTGAATTTGGATGAACTATCTCTTTAAAAGAAAACATGTGACATAGGAACAAAGTGATTTCGAGTGTGTGTATATTTATGTTTTTAGGATTTGTTGTTACACATGTGTCTGTGTTTTCCCAGATGGATACACCACAGATGACATCGAGTTTTATTGGCGAGGGGGAGATGGAGCGGTTTCGGGGGTGGAGAGAATCGAACTGCCCCAGTTCTCCATCGTAGACTATAAACTCATCTCCAAGAACGTGGTCTTCTCCACAGG[T/C]TCAGTTTAATCTCTTTCGTGTGTGTCGTACAGTTGGGACCATGAGTCAGATCTGTTCAGAAGTTGTGTTTGATCTGGAGGTGGGCGACACGAGCAGAATATTAGATCATGCTATGAGCAGTTTTATTAAGATAAAAGTACACACTAGAGCTAACTTTGTTGCGAATTTAATGAAGAAGTTTAAGAAAGAAAGGTGTGAATAATTTTATTTAAAAACTGAAGAACACAAACCTGAAGATACGGCATGGTTATTTATTACATGAGCGATAAACTAAAGTAAAATAAATCTCACCCTGATTTCATGGAATTTAGAGCTACTCAAAACATTTTTTACTTAGTATTATTATCTTGATATCCAGTCAGATATGCAAGCATACACTTTATAAATGTTGGATTATTAACACTTTCACACTGAAGTTTTAAATACTTCCACTAACCTCCTGTGTCAGCTTTTTAAAAGTGTTTCCATGGCAACACCTCAGTTTTATCACGACACACTGC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa44807
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
A > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000114750 Essential Splice Site 226 519 7 10
ENSDART00000148259 Essential Splice Site 143 436 7 10
Genomic Location (Zv9):
Chromosome 14 (position 23257113)
Other Location(s):
Assembly Chromosome Position
GRCz10 14 21956903
GRCz11 14 22254148
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTTTTTTACTATTAAGTATGAAACTGTCTTTCTCTGTCTTTCCTTGGACC[A/G]GGTTCGTATCCACGTCTGTCTCTGAGTTTCAAACTTAAGAGGAACATTGG
Long Flanking Sequence:
TTAATAAAGTAGTCTAGGTGTAAATATAGTGGTAAGATAAAGTTTTGGGTTATTGATTCCGTATCTGACTTCTAAAATATATTATAATATATGTACAATTTTTAGGGAGTGCTTTTGTTTGTTGTTTATTGCAATATCTGGCAAAACTCTGACATGCGACAATCAAAATTGACGTACATGGTGGCTCAGAAAGTGGACAAACATTTATTAAGTTTAGTTTTTAAGCTAATCATTTACAGTGGAATTCATGCCAAAATTGATTTGCTATTCATCATTCATACATCTCAATCAAGACTGGTACAGCAAAACAAAATGATATTCCTGCATTAAAACAAGATTATAATGTTACACATTATTTTTATCCATTAATATAGCTGAATTTTTACCAAACCCCAGACCTCCCTATATTTCAAGCCCTGGCTACAGCCTTTTGTACGAGTAATGCAGTATGTTTTTTACTATTAAGTATGAAACTGTCTTTCTCTGTCTTTCCTTGGACC[A/G]GGTTCGTATCCACGTCTGTCTCTGAGTTTCAAACTTAAGAGGAACATTGGTTACTTCATCCTGCAGACCTACATGCCCTCAATCCTGATCACCATCCTGTCCTGGGTATCCTTCTGGATCAACTACGACGCTTCAGCTGCCCGTGTGGCTTTAGGTGGGACATCTGATTAAGCTGATGTCTGTTGACTAACCCTTTATGCATGAGCTCAGATGTTTGCTGCAATTATGGTGACCACTCTGGACTGTATCTTTATTCTGTATACTCAGGGATCAGCTATTGTGGTTCTTTGGATTTCTGCTACTTGTTTTACAGGCTGTTTTCTGTTTGCCTCTCAATGCAGTCGAGTAATACATCAGTGACCGATTTTTGCCAAAACATGTTTCTGTATCAACATCACTGTTGGGCATGAAACAACACTCATATTCACCACTACAATGTGAGCAAAGACTAGAAAGTTTTATTAAAATATTTTGCAAGTGCGTAAATATAAACACACTGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa35685
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000114750 Essential Splice Site 405 519 9 10
ENSDART00000148259 Essential Splice Site 322 436 9 10
Genomic Location (Zv9):
Chromosome 14 (position 23272587)
Other Location(s):
Assembly Chromosome Position
GRCz10 14 21972377
GRCz11 14 22269622
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GATCTTTGCGGAGGATGCAGCATTAGGACTAGGCGATCAAAGACTTAAGG[T/C]ACTGAATATTTGACCTGAAGTCAAACAAAAACAAATGCAATGGCTCTGCA
Long Flanking Sequence:
TACTCTGAGGTAATGTGTTGTGACTTCTATCAGTGTCCTTTCAGGGTCAGTGGGCTTTGGAGATTGTTAAAACACCGGATGTATAGCTGTGTTCTTTCCACTGGCGTAAGCTTGTTCACAAACCACAACCTAATGGGCTTTTACCCCTCAGAAACATGCGCTGAAATATCCGGGAGATCGGCGCAGACTTTTGTTAGCTGTAAACAACAGACTAGCTCACTCATCCCGGGCCGGGCCGCGTCCGAGCTCGTGGCTGGCAGAGCCTCTAGGGCTTTCCTTCTAATCTCATTCAAAAGAGTTGTGTCTCTCCCTGAGTGCGGCCGACCTCTGTAACAGTGCTGATTTTGTATGCTTGCAGTGGTTGGTGGGAAGTGTAGTTCAGAGAGACGATGCTCTCTATGCCAGAATGAAACAGAGGGAAATTGACGGGTATGACTCGATGTGGGATCCGATCTTTGCGGAGGATGCAGCATTAGGACTAGGCGATCAAAGACTTAAGG[T/C]ACTGAATATTTGACCTGAAGTCAAACAAAAACAAATGCAATGGCTCTGCATCGATAACCAACCAGAAGTGAACACACCCAAGCTCTTTCTGTTTGATTATTGTTTCTTTGGATGACTTTTTTTCTTGTTCCTTTAGAGTAATGATGGTAGCCATCATCATTTCCACCATTACGTTGTCCTGCCCTTTTTTCAGTTACCGTTTGCACCCGAGCCTTTTCCCAGACGCCCATTTCTGTTTGATCGCCGTGCATAGCAGTGTATGCTTATTAGTCTTCAAGCACATTCACACCAAGTATGATAACTTGTACTGTAAAGTTAATAATATTATATGTCAACACCATGACTGTATAGCTATGTGTTCACAAAAGCAGTTTTCTCTCAAGGTTAGCATTTTTAAGTGTGAAGAGGTTATGATATACCCAATTTATGACTATATAACTTACAGTATGGTTACTTAAATAGTGAGTAGGGCATAATACATTGTGCGTTTTTAACAATGT
Associated Phenotype:
Not determined