Busch Lab

ZMP

LOC100332196

Ensembl ID:
ENSDARG00000018935
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 7 alleles of this gene:

Allele Name Consequence Status Availability
sa38197 Nonsense Mutation detected in F1 DNA Not yet available
sa45865 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa30503 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa24816 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa38197
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:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000020215 Nonsense 130 361 4 16
Genomic Location (Zv9):
Chromosome Zv9_NA555 (position 69648)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 42266550
GRCz11 21 42292552
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGCTGATCAGCTGTGGGTGCCGGACACTTACTTTCTGAACGACAAGAAGT[C/A]ATTTGTACACGGCGTAACAGTGAAGAACAGAATGATACGTCTTCATCCTG
Long Flanking Sequence:
ACTATCCAGAAATCACAGCATGCTAGGTTTGCAATGACACGAGGGCATTTTAAGGTGAACTGTTCCTTTAAAAAGTGATTGAAATGGCTCATTTAAATGCGTTTTTGTTCAGCCGTGCTCCGCTGTCATTATACCTCCACTAGTCTCCAGGGCTTTCCTCAGACTTCAGCTCCTTAACACTCATTTTTCTGACCTGATGTGCTCTGTTGTGCTTTTAACGTTGCGCCATGCATTTTTAAAAGCAGTCATGTAATATTAAGCCCAAAAAGATGTCAGAAATACCCTAAAATGTGACTTTCTTGTGTTTTCTTGAACTTGGTAACCAATTCCTACTTGTTTATTTTTTGTTTTTCAGGACTACACACTGACTATGTATTTCCAGCAAGCCTGGCGAGATAAACGGCTGTCCTATTCTGAGATTCCTCTTAATCTGACGCTGGATAACCGGGTGGCTGATCAGCTGTGGGTGCCGGACACTTACTTTCTGAACGACAAGAAGT[C/A]ATTTGTACACGGCGTAACAGTGAAGAACAGAATGATACGTCTTCATCCTGATGGCACTGTGCTCTATGGACTCAGGTAACAGTTCTGTTCTAAAACTGTTTTATTTATTCATAATCTAATATAAATACATTTATATCACACTGATCTGAACTAACTTCAACTCTGAAAACTGCACTGAAGCCATTTTAATTTACTAGAACTTCTATATTAAGCTGCTTTGACACAAATCTACTTTGTAAAAGGTCTATAGGAATACAGATGAATATATCTAGACATTTATTTTACATTTTTAGAAATATTTTATACTGCAATTTATTCTGATTTAAAGGTTTTTCAACAGGTTATTCCTGTCTTCAGCGTTAGTGATATTTTAAATTAGCAGGGATTATCTGATCATTTGATGATGAAGAAAAATTCCTGACTGCCAATGTTAAAGGGAAATTGAGCTGTTTTAATATTGTTTTGTGGAAACTGTGAGAGAAAACATTTTATTGTGCCAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa45865
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 > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000020215 Essential Splice Site 172 361 11 16
Genomic Location (Zv9):
Chromosome Zv9_NA555 (position 27920)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 42224822
GRCz11 21 42334280
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACTTCAGGTTATTTATTTTTTAATCCGTATTAATTTCCATAATGCTTTCA[A/T]GGGAGGCAAATTTCAGTACATCTGTCCCCGTGCACACATAAGAAATTTAA
Long Flanking Sequence:
AGGCAGGTAGCCGTCAGAAGCAATTCTGAAACTGCATATCTCGCCTGGTGTACGCATGGGTATGTTTGCATAGGTGTCTTTGACTGCTCTGTGGTTGTGCTCAAGTTAAGAAGATGATATATCTCGAGCACACTTTGCGACGCTTTTAATTGCAGACTAGAAATAGGATTAAAGTAGCTTTGAACCATTGGGATCAAACATTTATGTACACTCATGGAATGCTGGAGATGTTCCCCATTTACATTTGTTTTCCCTTTTTCGAATATCCTAGGTGATTCTACAATATGAATAAGAATTGGAAAATATAACTAGAGGGGCTTTTTTGCCCCTCCAGTTGCACACTGACACTCAGGGTGAAGGTTTTATCCTTTTTTCCCCCTTTCTTCTTTCAGAAGAAAAGCCCTTATTAAGAATTGCCGTGCAGTTCAGACACCACTGAAGTGCATCCTAACTTCAGGTTATTTATTTTTTAATCCGTATTAATTTCCATAATGCTTTCA[A/T]GGGAGGCAAATTTCAGTACATCTGTCCCCGTGCACACATAAGAAATTTAAGCAAATTTCACAGCAGGACTGTTCTCTGATCTTACAAGTCAGGAAGTGGAACAGTCAGAGATGCTGTTCGGAAACTTTGCGAGCTGCCTGTGTAGGCAGCATTTTATGCAATGTACCGTAGGCACACTTTACACATTTTCCAAGATAACCCTTCCTTAATTTATGCTGTTTCTAAGCCAGCGTCTCATGCAAGTGCAGAACGCATTATTGATTGTGAGAAGCACTGTGGAATAAGACAATTAAGCAAATTGATTCTGAAAATGATTGTTATCGTAGCCAGAGGTGGGAAGAGTATCCAAAATCTATACTCATGTAAATGTACAAGTACTTACAGAAATTTTTATTTAAGTAAAAGTAACAATCTAAAAAGTTACATGAGTAAGAGTAAAAAAGTATCTGATGAAATAAGTTCTCAAGTAAATAGTTACTAGTTACTTTTCAATATATATA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa30503
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 > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000020215 Essential Splice Site 173 361 11 16
Genomic Location (Zv9):
Chromosome Zv9_NA555 (position 27913)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 42224815
GRCz11 21 42334287
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTTATTTATTTTTTAATCCGTATTAATTTCCATAATGCTTTCAAGGGAGG[C/T]AAATTTCAGTACATCTGTCCCCGTGCACACATAAGAAATTTAAGCAAATT
Long Flanking Sequence:
TAGCCGTCAGAAGCAATTCTGAAACTGCATATCTCGCCTGGTGTACGCATGGGTATGTTTGCATAGGTGTCTTTGACTGCTCTGTGGTTGTGCTCAAGTTAAGAAGATGATATATCTCGAGCACACTTTGCGACGCTTTTAATTGCAGACTAGAAATAGGATTAAAGTAGCTTTGAACCATTGGGATCAAACATTTATGTACACTCATGGAATGCTGGAGATGTTCCCCATTTACATTTGTTTTCCCTTTTTCGAATATCCTAGGTGATTCTACAATATGAATAAGAATTGGAAAATATAACTAGAGGGGCTTTTTTGCCCCTCCAGTTGCACACTGACACTCAGGGTGAAGGTTTTATCCTTTTTTCCCCCTTTCTTCTTTCAGAAGAAAAGCCCTTATTAAGAATTGCCGTGCAGTTCAGACACCACTGAAGTGCATCCTAACTTCAGGTTATTTATTTTTTAATCCGTATTAATTTCCATAATGCTTTCAAGGGAGG[C/T]AAATTTCAGTACATCTGTCCCCGTGCACACATAAGAAATTTAAGCAAATTTCACAGCAGGACTGTTCTCTGATCTTACAAGTCAGGAAGTGGAACAGTCAGAGATGCTGTTCGGAAACTTTGCGAGCTGCCTGTGTAGGCAGCATTTTATGCAATGTACCGTAGGCACACTTTACACATTTTCCAAGATAACCCTTCCTTAATTTATGCTGTTTCTAAGCCAGCGTCTCATGCAAGTGCAGAACGCATTATTGATTGTGAGAAGCACTGTGGAATAAGACAATTAAGCAAATTGATTCTGAAAATGATTGTTATCGTAGCCAGAGGTGGGAAGAGTATCCAAAATCTATACTCATGTAAATGTACAAGTACTTACAGAAATTTTTATTTAAGTAAAAGTAACAATCTAAAAAGTTACATGAGTAAGAGTAAAAAAGTATCTGATGAAATAAGTTCTCAAGTAAATAGTTACTAGTTACTTTTCAATATATATATATATAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa24816
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:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000020215 Nonsense 342 361 16 16
Genomic Location (Zv9):
Chromosome Zv9_NA555 (position 383)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 42197285
GRCz11 21 42361817
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATGCGCTGGTCAACTACATCTTCTTTGGCAGGGGACCACAGCAACAGAAG[A/T]AAGCTGCAGAGAGAGCCTCCAAAGCCAACAATGAAAAAATGAGAATGGAT
Long Flanking Sequence:
AAAAGGACTTTGATTTATATGTGAACTCTTTAAAATACTCATACAAATACATTGCATGTAAAACTCTTTCTTGGTGTAAATCATTTAAACTTGTTTAGTTTGCTGGAGTTTTATTTATGTAACTCTTTTTGTCTCTTTGTTCATACTGTATCTTTTTAATGTTCTTTCTTGCATAATAAAAAAAATATTTACATCAAAATTTGTTTACTGTACTACAGTGTATATGTTAAATGTAAAAATATCACAAGTATTTATCTTTGGGTTTTACACTATGTGTCTTATGTCCCCCTAACAGTGAATTCCTTTTGAACACAGGCATCACCACTGTGCTGACCATGACCACCATCAACACACATTTGCGGGAGACTCTTCCGAAGATTCCATATGTCAAAGCCATTGACATGTACCTGATGGGCTGTTTCGTCTTCGTCTTCCTGGCTCTGCTGGAGTATGCGCTGGTCAACTACATCTTCTTTGGCAGGGGACCACAGCAACAGAAG[A/T]AAGCTGCAGAGAGAGCCTCCAAAGCCAACAATGAAAAAATGAGAATGGATCCCAACAAAGTATGTTTAACATTTACATGTAAAGTTCATAATAGCTGCACAAGTAATTTCATTATTGTAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATTTAAAAACAATGTTAAGGCTTCACAATAAGGTTCCATTCGTTAAAATAAATAAATAAATGAATAAATAAATCCAAAGAGTGAGAGATGGATGGATGGATATGAACAAGCAAAAAACAAATGAACAAATAAATGAACCAATGAGTAAATAAAAAATTGAATAGTAGATAAATTACAGTATATGTATTTATAAACCAATGCAATTATATATANNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
Associated Phenotype:
Not determined