Incidental Mutation 'IGL02386:Glra3'
ID291556
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Glra3
Ensembl Gene ENSMUSG00000038257
Gene Nameglycine receptor, alpha 3 subunit
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02386
Quality Score
Status
Chromosome8
Chromosomal Location55940460-56130070 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 56089028 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 269 (M269L)
Ref Sequence ENSEMBL: ENSMUSP00000000275 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000275]
Predicted Effect probably benign
Transcript: ENSMUST00000000275
AA Change: M269L

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000000275
Gene: ENSMUSG00000038257
AA Change: M269L

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Pfam:Neur_chan_LBD 59 269 3.7e-55 PFAM
Pfam:Neur_chan_memb 276 434 1.4e-35 PFAM
PDB:2M6I|E 437 474 1e-12 PDB
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ligand-gated ion channel protein family. The encoded protein is a member of the glycine receptor subfamily. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]
PHENOTYPE: Homozygous null mice are fertile and display decreased inflammatory pain sensitization without any gross abnormalities in the brain or spinal cord. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930555F03Rik G A 8: 49,500,437 noncoding transcript Het
Abhd17b T C 19: 21,680,899 Y167H possibly damaging Het
Ablim1 T C 19: 57,134,654 D167G probably damaging Het
Bpnt1 G T 1: 185,338,175 K21N probably damaging Het
Cables2 A G 2: 180,261,638 V251A probably benign Het
Cyp2b13 T C 7: 26,086,013 L269P probably damaging Het
Dhodh A G 8: 109,594,764 I330T probably damaging Het
Dnah5 T A 15: 28,340,381 D2311E probably damaging Het
Dph1 T C 11: 75,183,602 D128G probably benign Het
Dsg1c T A 18: 20,276,999 I508N probably benign Het
Eftud2 T C 11: 102,851,754 probably null Het
Fstl4 T A 11: 52,773,871 H9Q probably benign Het
Gpatch8 C A 11: 102,508,157 R83L unknown Het
Gss A G 2: 155,573,170 V205A probably benign Het
Ifi30 A G 8: 70,764,760 probably benign Het
Itch T A 2: 155,202,261 Y495* probably null Het
Lilrb4a C T 10: 51,491,226 Q22* probably null Het
Mest T C 6: 30,744,914 F201S possibly damaging Het
Myh8 T A 11: 67,294,440 I839N probably damaging Het
Myo7a C T 7: 98,075,112 G1122E probably damaging Het
Ntan1 T A 16: 13,835,199 M273K probably benign Het
Numa1 A G 7: 102,007,532 K1548R probably benign Het
Obsl1 A G 1: 75,492,517 V1260A probably damaging Het
Olfr1258 T C 2: 89,930,544 V245A probably damaging Het
Olfr1271 T A 2: 90,265,951 I160F probably damaging Het
Pde10a A G 17: 8,953,804 S669G possibly damaging Het
Ppargc1b T C 18: 61,323,151 D79G probably damaging Het
Rnf103 A G 6: 71,509,218 T278A probably benign Het
Slc22a4 C A 11: 53,988,772 probably benign Het
Snx25 A T 8: 46,041,349 M833K possibly damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Susd2 A T 10: 75,640,095 Y357N probably damaging Het
Syne4 C A 7: 30,316,234 S91Y possibly damaging Het
Tgfbrap1 C A 1: 43,075,821 G40C probably damaging Het
Tial1 A G 7: 128,448,345 S94P probably damaging Het
Tle3 A G 9: 61,394,659 T117A possibly damaging Het
Usp48 A C 4: 137,604,523 R73S possibly damaging Het
Utrn G T 10: 12,421,608 D685E possibly damaging Het
Other mutations in Glra3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00835:Glra3 APN 8 55940977 splice site probably benign
IGL01301:Glra3 APN 8 55940962 missense probably benign 0.00
IGL01772:Glra3 APN 8 56089055 missense probably benign 0.22
IGL02280:Glra3 APN 8 55940971 missense possibly damaging 0.67
IGL02508:Glra3 APN 8 56085144 missense probably benign 0.10
IGL03094:Glra3 APN 8 56125172 missense probably benign
ANU18:Glra3 UTSW 8 55940962 missense probably benign 0.00
R0532:Glra3 UTSW 8 56125076 missense probably benign
R0708:Glra3 UTSW 8 56125364 utr 3 prime probably benign
R0710:Glra3 UTSW 8 56125364 utr 3 prime probably benign
R0927:Glra3 UTSW 8 56125204 missense possibly damaging 0.65
R1125:Glra3 UTSW 8 56039754 missense possibly damaging 0.69
R1138:Glra3 UTSW 8 56088976 splice site probably null
R1717:Glra3 UTSW 8 55940907 missense probably benign 0.07
R1718:Glra3 UTSW 8 55940907 missense probably benign 0.07
R1848:Glra3 UTSW 8 55940907 missense probably benign 0.07
R1933:Glra3 UTSW 8 55940907 missense probably benign 0.07
R1934:Glra3 UTSW 8 55940907 missense probably benign 0.07
R2042:Glra3 UTSW 8 56062459 missense probably benign 0.36
R2571:Glra3 UTSW 8 56110481 missense probably benign 0.41
R3123:Glra3 UTSW 8 56125209 missense possibly damaging 0.94
R3124:Glra3 UTSW 8 56125209 missense possibly damaging 0.94
R4585:Glra3 UTSW 8 56088993 missense probably damaging 1.00
R4593:Glra3 UTSW 8 55940881 missense probably damaging 1.00
R4981:Glra3 UTSW 8 55991235 missense possibly damaging 0.69
R5277:Glra3 UTSW 8 55991207 missense possibly damaging 0.79
R5356:Glra3 UTSW 8 55940901 missense probably benign 0.00
R6214:Glra3 UTSW 8 55991256 splice site probably null
R6941:Glra3 UTSW 8 55940926 missense probably benign 0.00
Posted On2015-04-16