|Institutional Source||Beutler Lab|
|Gene Name||glycine receptor, alpha 2 subunit|
|Is this an essential gene?||Possibly non essential (E-score: 0.290)|
|Stock #||R3837 (G1)|
|Chromosomal Location||165129017-165327393 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 165289616 bp|
|Amino Acid Change||Valine to Isoleucine at position 85 (V85I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000060827 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000058787]|
|Predicted Effect||probably benign
AA Change: V85I
PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
AA Change: V85I
|Meta Mutation Damage Score||0.0704|
|Coding Region Coverage||
|Validation Efficiency||98% (52/53)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The glycine receptor consists of two subunits, alpha and beta, and acts as a pentamer. The protein encoded by this gene is an alpha subunit and can bind strychnine. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for a null allele lack cortical neuron responses to glycine and taurine but are otherwise normal. Mice homozygous for another targeted allele exhibit impaired interneuron migration into the cortical wall. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Glra2||
(F):5'- CGATGGCTTCAATGCTCAGTC -3'
(R):5'- GGGAAGTTATCATGCAGTTCTG -3'
(F):5'- CAGTCCCACTCACCATTGTAG -3'
(R):5'- CGCTAACCACAGATGTTG -3'