|Institutional Source||Beutler Lab|
|Gene Name||gamma-aminobutyric acid (GABA) A receptor, subunit delta|
|Is this an essential gene?||Probably non essential (E-score: 0.174)|
|Stock #||R7064 (G1)|
|Chromosomal Location||155384980-155398112 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 155388346 bp|
|Amino Acid Change||Valine to Methionine at position 127 (V127M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000030925 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030925]|
|Predicted Effect||probably damaging
AA Change: V127M
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: V127M
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Gamma-aminobutyric acid (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. The GABA-A receptor is generally pentameric and there are five types of subunits: alpha, beta, gamma, delta, and rho. This gene encodes the delta subunit. Mutations in this gene have been associated with susceptibility to generalized epilepsy with febrile seizures, type 5. Alternatively spliced transcript variants have been described for this gene, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit increased postpartum depression and anxiety behaviors, lethality of pups due to materal neglect, and increased cued and contextual conditional freezing. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gabrd||
(F):5'- CACTGGCTACCATCATGTATCTG -3'
(R):5'- TCAATCGGCTCTCTGGGTTG -3'
(F):5'- GCTACCATCATGTATCTGTGTGG -3'
(R):5'- CTCTCTGGGTTGTGTGCCATC -3'