Incidental Mutation 'R3837:Glra2'
ID 275727
Institutional Source Beutler Lab
Gene Symbol Glra2
Ensembl Gene ENSMUSG00000018589
Gene Name glycine receptor, alpha 2 subunit
Synonyms
MMRRC Submission 040778-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.254) question?
Stock # R3837 (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: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 98% (52/53)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028I16Rik A G 10: 82,648,219 (GRCm39) noncoding transcript Het
4930474N05Rik G A 14: 35,817,435 (GRCm39) G112S probably benign Het
Adam24 T C 8: 41,133,584 (GRCm39) S351P probably benign Het
Amigo2 T C 15: 97,143,196 (GRCm39) I409V probably damaging Het
Arhgef25 T C 10: 127,025,605 (GRCm39) T12A 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
Cdc20b T C 13: 113,220,542 (GRCm39) W432R probably damaging Het
Cdh9 G T 15: 16,823,524 (GRCm39) E169* probably null Het
Col28a1 C T 6: 8,014,601 (GRCm39) V935M possibly damaging Het
Col6a3 T C 1: 90,707,803 (GRCm39) N1948D unknown Het
Dnajb2 G A 1: 75,218,124 (GRCm39) probably null Het
Fam13c C T 10: 70,378,478 (GRCm39) S336L probably damaging Het
Fn1 A T 1: 71,692,314 (GRCm39) probably null Het
Fryl T C 5: 73,228,608 (GRCm39) T1708A 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
Gm11562 A G 11: 99,511,026 (GRCm39) I58T possibly damaging Het
Gpam T C 19: 55,068,890 (GRCm39) N450S probably benign Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hmcn2 T C 2: 31,303,419 (GRCm39) L3020P probably damaging Het
Hmgcr A G 13: 96,795,597 (GRCm39) I324T probably benign Het
Itih1 T A 14: 30,657,785 (GRCm39) N429Y probably damaging Het
Lamtor1 T C 7: 101,559,315 (GRCm39) probably null Het
Lrrd1 A T 5: 3,900,204 (GRCm39) I170L possibly damaging Het
Magi2 G A 5: 20,420,466 (GRCm39) D301N probably benign Het
Mid1ip1 T C X: 10,584,620 (GRCm39) V51A possibly damaging Het
Mmrn1 G A 6: 60,921,831 (GRCm39) S96N probably benign Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Msh3 C A 13: 92,491,366 (GRCm39) G15C probably damaging Het
Myl12b C A 17: 71,281,480 (GRCm39) E120* probably null Het
Myo3a T G 2: 22,455,121 (GRCm39) probably benign Het
Nagk A T 6: 83,778,139 (GRCm39) H245L possibly damaging Het
Nap1l1 T A 10: 111,331,183 (GRCm39) probably null Het
Nlrc5 A G 8: 95,237,929 (GRCm39) probably benign Het
Ogfrl1 G A 1: 23,409,041 (GRCm39) T395I probably benign Het
Polr1b T A 2: 128,961,027 (GRCm39) F662Y possibly damaging Het
Rrbp1 T C 2: 143,831,478 (GRCm39) K230E probably damaging Het
Shld2 A G 14: 33,971,142 (GRCm39) V581A probably damaging Het
Skap2 C T 6: 51,886,279 (GRCm39) probably null Het
Skint5 A T 4: 113,797,938 (GRCm39) M215K probably damaging Het
Slc17a4 C T 13: 24,085,752 (GRCm39) R387H probably benign Het
Tdp1 A G 12: 99,860,967 (GRCm39) probably null Het
Tlr3 G A 8: 45,849,976 (GRCm39) L898F probably damaging Het
Tmem210 A G 2: 25,178,444 (GRCm39) E35G possibly damaging 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
Vmn1r33 A T 6: 66,588,701 (GRCm39) D284E possibly damaging Het
Wnk1 T C 6: 119,927,004 (GRCm39) E1265G probably damaging Het
Yme1l1 A T 2: 23,081,092 (GRCm39) T455S possibly damaging Het
Zfp111 T C 7: 23,898,891 (GRCm39) N241S possibly damaging 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
R3839:Glra2 UTSW X 164,072,612 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CGATGGCTTCAATGCTCAGTC -3'
(R):5'- GGGAAGTTATCATGCAGTTCTG -3'

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