|Institutional Source||Beutler Lab|
|Gene Name||gamma-aminobutyric acid (GABA) C receptor, subunit rho 1|
|Is this an essential gene?||Probably non essential (E-score: 0.193)|
|Stock #||R1724 (G1)|
|Chromosomal Location||33132521-33163588 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 33161651 bp|
|Amino Acid Change||Methionine to Lysine at position 325 (M325K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029947 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029947]|
|Predicted Effect||probably damaging
AA Change: M325K
PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: M325K
|Meta Mutation Damage Score||0.39|
|Coding Region Coverage||
|Validation Efficiency||98% (50/51)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA receptors, which are ligand-gated chloride channels. GABRR1 is a member of the rho subunit family. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice homozygous for a knock-out allele display altered visual processing in the retina. Mice homozygous for a different knock-out allele exhibit alterations of mechanical pain sensitivity, GABA-inhibited spinal cord responses, and olfactory function. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gabrr1||
(F):5'- TACTCAAGGTCCTCCTTCTGGACG -3'
(R):5'- GGTAAAGTCACCTTCTCCCGAAGC -3'
(F):5'- CCATGTGCTAAAATGTCTGGAGC -3'
(R):5'- AAGCTTCCGTTCCTTCCG -3'