|Institutional Source||Beutler Lab|
|Gene Name||gamma-aminobutyric acid (GABA) A receptor, pi|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0265 (G1)|
|Chromosomal Location||33550781-33578959 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 33552614 bp|
|Amino Acid Change||Tyrosine to Asparagine at position 417 (Y417N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000020366 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000020366]|
|Predicted Effect||probably damaging
AA Change: Y417N
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: Y417N
|Meta Mutation Damage Score||0.4823|
|Coding Region Coverage||
|Validation Efficiency||99% (83/84)|
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. The subunit encoded by this gene is expressed in several non-neuronal tissues including the uterus and ovaries. This subunit can assemble with known GABA A receptor subunits, and the presence of this subunit alters the sensitivity of recombinant receptors to modulatory agents such as pregnanolone. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]
PHENOTYPE: Homozygous mutation of this gene does not appear to result in a phenotype. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gabrp||
(F):5'- GGTCACACTAGGGCTTCTACACAAC -3'
(R):5'- ACACACCTTTTCACGATGCCATCTG -3'
(F):5'- AGCTGAAGTGCACACACA -3'
(R):5'- ACTATTGTCTATGAACCAGGGGC -3'