Incidental Mutation 'IGL00786:Gpr37'
ID 13517
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpr37
Ensembl Gene ENSMUSG00000039904
Gene Name G protein-coupled receptor 37
Synonyms parkin-associated endothelin B-like receptor, Pael-R
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # IGL00786
Quality Score
Status
Chromosome 6
Chromosomal Location 25668522-25689979 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25669317 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 509 (V509A)
Ref Sequence ENSEMBL: ENSMUSP00000052185 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054867] [ENSMUST00000200812]
AlphaFold Q9QY42
Predicted Effect possibly damaging
Transcript: ENSMUST00000054867
AA Change: V509A

PolyPhen 2 Score 0.654 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000052185
Gene: ENSMUSG00000039904
AA Change: V509A

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 101 116 N/A INTRINSIC
Pfam:7tm_1 265 536 5.2e-33 PFAM
low complexity region 549 558 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000200812
SMART Domains Protein: ENSMUSP00000144683
Gene: ENSMUSG00000039904

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 101 116 N/A INTRINSIC
Pfam:7tm_1 265 421 3.4e-26 PFAM
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 is a member of the G protein-coupled receptor family. The encoded protein contains seven transmembrane domains and is found in cell and endoplasmic reticulum membranes. G protein-coupled receptors are involved in translating outside signals into G protein mediated intracellular effects. This gene product interacts with Parkin and is involved in juvenile Parkinson disease. [provided by RefSeq, Oct 2012]
PHENOTYPE: Mice homozygous for disruptions in this gene exhibit reduced striatal dopamine content, enhanced amphetamine sensitivity, reduced motor activity and coordination and increased percentage of body fat in females. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik T C 2: 35,265,851 (GRCm39) N242S probably benign Het
Akap9 C A 5: 4,120,522 (GRCm39) A3646E probably damaging Het
Akt1 C A 12: 112,624,105 (GRCm39) G233V probably damaging Het
B3gat3 A G 19: 8,904,149 (GRCm39) E320G probably benign Het
Bltp3a T A 17: 28,098,266 (GRCm39) I136N probably damaging Het
Bpifa5 G A 2: 154,009,172 (GRCm39) C238Y probably damaging Het
Camkmt T C 17: 85,403,919 (GRCm39) V47A probably damaging Het
Ccnl2 C T 4: 155,905,337 (GRCm39) R284W probably damaging Het
Chl1 G T 6: 103,652,106 (GRCm39) V341F probably damaging Het
Cst3 A T 2: 148,714,797 (GRCm39) C93* probably null Het
Ctsh T C 9: 89,946,291 (GRCm39) V119A probably damaging Het
Dmap1 C T 4: 117,533,593 (GRCm39) R225Q possibly damaging Het
Ehbp1 A G 11: 22,050,460 (GRCm39) S479P possibly damaging Het
Eml2 A G 7: 18,936,507 (GRCm39) Y528C probably damaging Het
Faim G A 9: 98,874,218 (GRCm39) G15R probably damaging Het
G6pc3 A G 11: 102,083,931 (GRCm39) M186V probably benign Het
Heatr5b G T 17: 79,132,063 (GRCm39) H347N possibly damaging Het
Idh1 A G 1: 65,205,402 (GRCm39) S188P probably damaging Het
Mphosph8 T C 14: 56,910,001 (GRCm39) V118A probably benign Het
Mthfsd C T 8: 121,831,207 (GRCm39) R91Q probably damaging Het
Otor G A 2: 142,921,846 (GRCm39) V86I probably damaging Het
Pdk2 T A 11: 94,922,761 (GRCm39) T140S probably benign Het
Pnliprp2 A G 19: 58,748,929 (GRCm39) N78S probably benign Het
Rimbp3 C T 16: 17,029,552 (GRCm39) T992M probably damaging Het
Sdad1 A T 5: 92,451,632 (GRCm39) probably null Het
Sidt2 A G 9: 45,861,101 (GRCm39) S71P possibly damaging Het
Slc44a2 T A 9: 21,257,231 (GRCm39) V390E probably damaging Het
Tmem168 T C 6: 13,602,674 (GRCm39) I231V probably benign Het
Vim T C 2: 13,583,321 (GRCm39) probably null Het
Other mutations in Gpr37
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01595:Gpr37 APN 6 25,669,572 (GRCm39) missense probably damaging 1.00
IGL01670:Gpr37 APN 6 25,669,833 (GRCm39) missense probably damaging 1.00
IGL02552:Gpr37 APN 6 25,688,686 (GRCm39) missense probably benign 0.05
IGL03331:Gpr37 APN 6 25,669,728 (GRCm39) missense probably benign 0.26
R0375:Gpr37 UTSW 6 25,669,290 (GRCm39) missense probably benign 0.08
R0534:Gpr37 UTSW 6 25,669,823 (GRCm39) nonsense probably null
R0892:Gpr37 UTSW 6 25,688,206 (GRCm39) missense probably damaging 1.00
R1481:Gpr37 UTSW 6 25,669,137 (GRCm39) missense probably damaging 0.99
R1700:Gpr37 UTSW 6 25,669,623 (GRCm39) missense probably benign 0.09
R2083:Gpr37 UTSW 6 25,688,416 (GRCm39) missense possibly damaging 0.62
R2089:Gpr37 UTSW 6 25,689,062 (GRCm39) missense possibly damaging 0.73
R2091:Gpr37 UTSW 6 25,689,062 (GRCm39) missense possibly damaging 0.73
R2091:Gpr37 UTSW 6 25,689,062 (GRCm39) missense possibly damaging 0.73
R2112:Gpr37 UTSW 6 25,669,380 (GRCm39) missense possibly damaging 0.91
R2847:Gpr37 UTSW 6 25,666,945 (GRCm39) unclassified probably benign
R2848:Gpr37 UTSW 6 25,666,945 (GRCm39) unclassified probably benign
R4119:Gpr37 UTSW 6 25,688,425 (GRCm39) missense possibly damaging 0.90
R4611:Gpr37 UTSW 6 25,669,623 (GRCm39) missense probably benign 0.09
R4734:Gpr37 UTSW 6 25,689,085 (GRCm39) missense possibly damaging 0.53
R4765:Gpr37 UTSW 6 25,669,107 (GRCm39) missense probably damaging 1.00
R5163:Gpr37 UTSW 6 25,669,614 (GRCm39) missense possibly damaging 0.87
R5669:Gpr37 UTSW 6 25,669,351 (GRCm39) missense probably benign 0.05
R6548:Gpr37 UTSW 6 25,688,812 (GRCm39) missense probably benign 0.32
R6760:Gpr37 UTSW 6 25,669,168 (GRCm39) missense probably benign 0.00
R7030:Gpr37 UTSW 6 25,689,004 (GRCm39) missense possibly damaging 0.92
R7278:Gpr37 UTSW 6 25,669,341 (GRCm39) missense possibly damaging 0.68
R7392:Gpr37 UTSW 6 25,688,786 (GRCm39) missense probably benign 0.34
R7726:Gpr37 UTSW 6 25,669,116 (GRCm39) missense possibly damaging 0.94
R7754:Gpr37 UTSW 6 25,689,049 (GRCm39) missense probably damaging 0.99
R7757:Gpr37 UTSW 6 25,688,207 (GRCm39) missense probably benign 0.26
R8344:Gpr37 UTSW 6 25,669,530 (GRCm39) missense probably damaging 1.00
R8734:Gpr37 UTSW 6 25,688,201 (GRCm39) missense probably benign 0.17
R8839:Gpr37 UTSW 6 25,669,369 (GRCm39) missense probably benign 0.15
V7732:Gpr37 UTSW 6 25,669,122 (GRCm39) missense probably benign 0.01
Posted On 2012-12-06