Incidental Mutation 'R3839:Glra2'
ID 277086
Institutional Source Beutler Lab
Gene Symbol Glra2
Ensembl Gene ENSMUSG00000018589
Gene Name glycine receptor, alpha 2 subunit
Synonyms
MMRRC Submission 040892-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.243) question?
Stock # R3839 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 163912013-164110389 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 164072612 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 85 (V85I)
Ref Sequence ENSEMBL: ENSMUSP00000060827 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058787]
AlphaFold Q7TNC8
Predicted Effect probably benign
Transcript: ENSMUST00000058787
AA Change: V85I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000060827
Gene: ENSMUSG00000018589
AA Change: V85I

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:Neur_chan_LBD 44 254 1.6e-55 PFAM
Pfam:Neur_chan_memb 261 373 3.4e-35 PFAM
transmembrane domain 424 441 N/A INTRINSIC
Meta Mutation Damage Score 0.1903 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.8%
  • 20x: 96.4%
Validation Efficiency 98% (48/49)
MGI Phenotype 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
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028I16Rik A G 10: 82,648,219 (GRCm39) noncoding transcript Het
Abraxas2 T A 7: 132,484,867 (GRCm39) S303R probably benign Het
Ackr3 G A 1: 90,141,850 (GRCm39) S103N probably damaging Het
Arhgef25 T C 10: 127,025,605 (GRCm39) T12A probably benign Het
Aspm C T 1: 139,405,792 (GRCm39) H1560Y probably benign Het
Atg10 A T 13: 91,085,499 (GRCm39) I150K probably damaging Het
AW551984 T C 9: 39,509,204 (GRCm39) probably benign Het
Cald1 A T 6: 34,722,700 (GRCm39) D122V probably damaging Het
Cc2d2a T C 5: 43,876,056 (GRCm39) V1011A probably benign Het
Cdh9 G T 15: 16,823,524 (GRCm39) E169* probably null Het
Cmbl T C 15: 31,582,144 (GRCm39) V47A probably damaging Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
Ctnnd2 T A 15: 31,009,174 (GRCm39) probably null Het
Cyp4a10 A C 4: 115,382,544 (GRCm39) E278A possibly damaging Het
Ddx56 T C 11: 6,217,712 (GRCm39) D3G probably benign Het
Dnajb2 G A 1: 75,218,124 (GRCm39) probably null Het
Eif3d T A 15: 77,848,300 (GRCm39) T211S probably benign Het
Fam13c C T 10: 70,378,478 (GRCm39) S336L probably damaging Het
Garnl3 C T 2: 32,879,558 (GRCm39) G923S probably benign Het
Gcnt4 A T 13: 97,083,522 (GRCm39) R273* probably null Het
Gldc T A 19: 30,096,075 (GRCm39) probably benign Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Het
Gpam T C 19: 55,068,890 (GRCm39) N450S probably benign Het
Gpr156 T A 16: 37,808,962 (GRCm39) V228D probably damaging Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hmgcr A G 13: 96,795,597 (GRCm39) I324T probably benign Het
Itga3 A G 11: 94,948,095 (GRCm39) probably null Het
Itih1 T A 14: 30,657,785 (GRCm39) N429Y probably damaging Het
Klhl40 A G 9: 121,609,482 (GRCm39) Y453C possibly damaging Het
Mid1ip1 T C X: 10,584,620 (GRCm39) V51A possibly damaging Het
Msn C A X: 95,203,805 (GRCm39) Q303K probably damaging Het
Nap1l1 T A 10: 111,331,183 (GRCm39) probably null Het
Rala A T 13: 18,067,759 (GRCm39) C91S probably damaging Het
Rps9 A G 7: 3,709,823 (GRCm39) probably benign Het
Sdr16c5 C A 4: 4,006,601 (GRCm39) M230I probably damaging Het
Sec14l3 A G 11: 4,021,544 (GRCm39) probably null Het
Senp2 T C 16: 21,828,485 (GRCm39) S32P probably damaging Het
Skor1 A C 9: 63,051,730 (GRCm39) S746R probably damaging Het
Slc17a4 C T 13: 24,085,752 (GRCm39) R387H probably benign Het
Slc47a1 G T 11: 61,243,884 (GRCm39) probably benign Het
Slit3 A T 11: 35,399,064 (GRCm39) N143I probably benign Het
Tpbg T C 9: 85,725,167 (GRCm39) probably benign Het
Tubb2a G T 13: 34,259,294 (GRCm39) N165K probably benign Het
Usp14 A G 18: 10,024,532 (GRCm39) probably null Het
Vmn2r109 A G 17: 20,774,704 (GRCm39) V217A probably damaging Het
Zfp108 A G 7: 23,959,981 (GRCm39) I191V probably benign Het
Other mutations in Glra2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00557:Glra2 APN X 164,072,633 (GRCm39) missense possibly damaging 0.81
IGL01341:Glra2 APN X 164,107,562 (GRCm39) missense probably damaging 0.97
IGL02590:Glra2 APN X 164,037,222 (GRCm39) missense probably benign 0.05
R3837:Glra2 UTSW X 164,072,612 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GATGGCTTCAATGCTCAGTCC -3'
(R):5'- GGAAGTTATCATGCAGTTCTGG -3'

Sequencing Primer
(F):5'- CAGTCCCACTCACCATTGTAG -3'
(R):5'- CCACAGATGTTGATGGAG -3'
Posted On 2015-04-06