|Institutional Source||Beutler Lab|
|Gene Name||gamma-aminobutyric acid (GABA) A receptor, subunit gamma 3|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7594 (G1)|
|Chromosomal Location||56716465-57387188 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 56982695 bp|
|Amino Acid Change||Asparagine to Lysine at position 168 (N168K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000067632 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000068911]|
|Predicted Effect||possibly damaging
AA Change: N168K
PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: N168K
|Coding Region Coverage||
|Validation Efficiency||98% (62/63)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. The protein encoded by this gene is a gamma subunit, which contains the benzodiazepine binding site. Two transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Aug 2012]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gabrg3||
(F):5'- AGTCTAGAGTAAAAGTCTCCTGATAGC -3'
(R):5'- GGCCCTACTGAGTGAAGCAAAG -3'
(F):5'- CCTGATAGCCTAAGATGTACCTG -3'
(R):5'- AAGTGAGGGCAACATTGTGTTCC -3'