Incidental Mutation 'IGL01104:Gpr50'
ID 53331
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpr50
Ensembl Gene ENSMUSG00000056380
Gene Name G-protein-coupled receptor 50
Synonyms H9
Accession Numbers
Essential gene? Not available question?
Stock # IGL01104
Quality Score
Status
Chromosome X
Chromosomal Location 70707273-70712863 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 70710833 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 305 (L305H)
Ref Sequence ENSEMBL: ENSMUSP00000064608 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070449]
AlphaFold O88495
Predicted Effect probably damaging
Transcript: ENSMUST00000070449
AA Change: L305H

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000064608
Gene: ENSMUSG00000056380
AA Change: L305H

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srx 44 228 6.6e-12 PFAM
Pfam:7TM_GPCR_Srsx 47 317 2e-12 PFAM
Pfam:7tm_1 53 302 1.1e-48 PFAM
low complexity region 340 351 N/A INTRINSIC
low complexity region 577 587 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131554
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144712
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a multipass membrane protein that is thought to act as a G protein-coupled receptor. Activity of this protein may be important in neurotransmitter and glucocorticoid signalling. Mutation of this gene causes a decreased ability to maintain a constant body temperature, resulting in torpor, as well as an increased metabolic rate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2015]
PHENOTYPE: Mice homozygous for a targeted disruption of this gene display alterations in energy balance and metabolism. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap1 T A 1: 89,653,797 (GRCm39) probably benign Het
AU015836 A T X: 93,015,493 (GRCm39) D15V probably damaging Het
Capns2 G T 8: 93,628,383 (GRCm39) D91Y probably damaging Het
Chd6 C T 2: 160,803,847 (GRCm39) R2071Q probably damaging Het
Col4a4 G T 1: 82,444,266 (GRCm39) P1334T unknown Het
Dusp12 T G 1: 170,702,042 (GRCm39) H319P probably damaging Het
Emilin3 A T 2: 160,751,703 (GRCm39) V112E probably damaging Het
Eya3 T A 4: 132,439,240 (GRCm39) F455L probably damaging Het
F10 G A 8: 13,105,686 (GRCm39) G417D probably damaging Het
Fat3 A C 9: 16,287,024 (GRCm39) V833G possibly damaging Het
Fat3 A T 9: 15,909,756 (GRCm39) L2082H probably damaging Het
Golga5 T A 12: 102,460,073 (GRCm39) M667K probably damaging Het
Grhl1 A G 12: 24,634,453 (GRCm39) K217R probably damaging Het
Itgb2 A G 10: 77,383,028 (GRCm39) probably null Het
Jag1 T A 2: 136,926,298 (GRCm39) I1035L probably benign Het
Kdm2a A G 19: 4,406,766 (GRCm39) probably benign Het
Lima1 A C 15: 99,741,581 (GRCm39) S32A probably damaging Het
Lmod1 C T 1: 135,292,522 (GRCm39) T459I probably damaging Het
Mtch1 T C 17: 29,555,196 (GRCm39) D284G probably damaging Het
Mtus2 C T 5: 148,013,819 (GRCm39) probably null Het
Or7c19 A G 8: 85,957,813 (GRCm39) T230A probably benign Het
Ppl T C 16: 4,912,355 (GRCm39) Q742R probably benign Het
Reln T C 5: 22,191,965 (GRCm39) R1492G probably damaging Het
Rsad1 T C 11: 94,434,466 (GRCm39) T323A possibly damaging Het
Slc22a8 A G 19: 8,585,329 (GRCm39) T293A possibly damaging Het
Smc4 T C 3: 68,934,917 (GRCm39) I677T possibly damaging Het
Ufd1 T C 16: 18,633,587 (GRCm39) F4S probably damaging Het
Usp9x T C X: 13,027,142 (GRCm39) V16A probably damaging Het
Vmn2r31 A T 7: 7,399,565 (GRCm39) C131S probably damaging Het
Vmn2r65 A G 7: 84,589,996 (GRCm39) I640T possibly damaging Het
Vwf T C 6: 125,660,519 (GRCm39) C2676R probably damaging Het
Posted On 2013-06-21