|Institutional Source||Beutler Lab|
|Gene Name||gamma-aminobutyric acid (GABA) A receptor, subunit beta 1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5407 (G1)|
|Chromosomal Location||71658113-72149037 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 72122021 bp|
|Amino Acid Change||Valine to Alanine at position 303 (V303A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000031122 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000031122]|
|Predicted Effect||possibly damaging
AA Change: V303A
PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: V303A
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 1 subunit. It is mapped to chromosome 4p12 in a cluster comprised of genes encoding alpha 4, alpha 2 and gamma 1 subunits of the GABA A receptor. Alteration of this gene is implicated in the pathogenetics of schizophrenia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice heterozygous for an ENU or spontaneous mutation exhibit alcohol preference with increased tonic inhibition, female infertility and hypothalamic pituitary axis dysfunction. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gabrb1||
(F):5'- GGTCCTGCCATCAATTGTACTG -3'
(R):5'- GACGGGATTAGCAATATACAATGCC -3'
(F):5'- CATCAATTGTACTGCACTGTGGCAG -3'
(R):5'- ACAATGCCTTACTTGGACTTTG -3'