Incidental Mutation 'IGL01595:Gpr37'
ID93381
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpr37
Ensembl Gene ENSMUSG00000039904
Gene NameG protein-coupled receptor 37
Synonymsparkin-associated endothelin B-like receptor, Pael-R
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.130) question?
Stock #IGL01595
Quality Score
Status
Chromosome6
Chromosomal Location25665878-25690729 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 25669573 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Asparagine at position 424 (T424N)
Ref Sequence ENSEMBL: ENSMUSP00000052185 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054867] [ENSMUST00000200812]
Predicted Effect probably damaging
Transcript: ENSMUST00000054867
AA Change: T424N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000052185
Gene: ENSMUSG00000039904
AA Change: T424N

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd5 A G 2: 23,078,169 M111V probably damaging Het
Adamts14 A T 10: 61,205,473 H819Q probably damaging Het
Adamts7 T A 9: 90,193,306 N1072K probably benign Het
Ahnak T A 19: 9,003,501 Y716* probably null Het
Arfgef3 T C 10: 18,594,912 K1702E possibly damaging Het
BB014433 C A 8: 15,042,499 probably null Het
Bdnf A T 2: 109,723,928 K176* probably null Het
C2cd5 C T 6: 143,018,022 R879H probably damaging Het
Capn11 T A 17: 45,639,434 H327L probably benign Het
Ccdc68 A G 18: 69,956,046 N220S probably benign Het
Cftr T C 6: 18,198,239 probably benign Het
Clca2 G A 3: 145,088,007 L296F probably damaging Het
Cubn A T 2: 13,325,216 L2618Q probably benign Het
Gfi1b A G 2: 28,611,417 probably null Het
Kank3 G A 17: 33,819,180 probably null Het
Kcnh5 T C 12: 74,898,327 Q716R probably benign Het
Kntc1 G A 5: 123,803,695 M1817I probably benign Het
Krt79 T G 15: 101,931,771 E330A probably damaging Het
Mapk15 C A 15: 75,995,280 P82Q probably benign Het
Myh15 A T 16: 49,172,949 D1649V probably damaging Het
Myo1d T C 11: 80,676,110 I326V probably benign Het
Nek9 A T 12: 85,314,420 W504R probably damaging Het
Nlrp4c T A 7: 6,066,112 C337* probably null Het
Nup160 A G 2: 90,729,737 N1269D probably damaging Het
Olfr250 T C 9: 38,368,050 V168A probably benign Het
Olfr594 A G 7: 103,220,351 D211G probably damaging Het
Olfr661 T C 7: 104,688,078 M21T possibly damaging Het
Pde6a A G 18: 61,281,528 M36V probably damaging Het
Perp A G 10: 18,855,659 Q122R probably damaging Het
S100a7a T C 3: 90,657,800 Y101H probably benign Het
Sbk2 C A 7: 4,957,713 V153L possibly damaging Het
Serpinb7 A T 1: 107,428,322 N25I probably damaging Het
Tbx5 A T 5: 119,840,838 D105V probably damaging Het
Trip6 T A 5: 137,313,413 T101S probably benign Het
Ush2a T A 1: 188,654,724 probably null Het
Other mutations in Gpr37
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00786:Gpr37 APN 6 25669318 missense possibly damaging 0.65
IGL01670:Gpr37 APN 6 25669834 missense probably damaging 1.00
IGL02552:Gpr37 APN 6 25688687 missense probably benign 0.05
IGL03331:Gpr37 APN 6 25669729 missense probably benign 0.26
R0375:Gpr37 UTSW 6 25669291 missense probably benign 0.08
R0534:Gpr37 UTSW 6 25669824 nonsense probably null
R0892:Gpr37 UTSW 6 25688207 missense probably damaging 1.00
R1481:Gpr37 UTSW 6 25669138 missense probably damaging 0.99
R1700:Gpr37 UTSW 6 25669624 missense probably benign 0.09
R2083:Gpr37 UTSW 6 25688417 missense possibly damaging 0.62
R2089:Gpr37 UTSW 6 25689063 missense possibly damaging 0.73
R2091:Gpr37 UTSW 6 25689063 missense possibly damaging 0.73
R2091:Gpr37 UTSW 6 25689063 missense possibly damaging 0.73
R2112:Gpr37 UTSW 6 25669381 missense possibly damaging 0.91
R2847:Gpr37 UTSW 6 25666946 unclassified probably benign
R2848:Gpr37 UTSW 6 25666946 unclassified probably benign
R4119:Gpr37 UTSW 6 25688426 missense possibly damaging 0.90
R4611:Gpr37 UTSW 6 25669624 missense probably benign 0.09
R4734:Gpr37 UTSW 6 25689086 missense possibly damaging 0.53
R4765:Gpr37 UTSW 6 25669108 missense probably damaging 1.00
R5163:Gpr37 UTSW 6 25669615 missense possibly damaging 0.87
R5669:Gpr37 UTSW 6 25669352 missense probably benign 0.05
R6548:Gpr37 UTSW 6 25688813 missense probably benign 0.32
R6760:Gpr37 UTSW 6 25669169 missense probably benign 0.00
R7030:Gpr37 UTSW 6 25689005 missense possibly damaging 0.92
R7278:Gpr37 UTSW 6 25669342 missense possibly damaging 0.68
R7392:Gpr37 UTSW 6 25688787 missense probably benign 0.34
R7726:Gpr37 UTSW 6 25669117 missense possibly damaging 0.94
R7754:Gpr37 UTSW 6 25689050 missense probably damaging 0.99
R7757:Gpr37 UTSW 6 25688208 missense probably benign 0.26
V7732:Gpr37 UTSW 6 25669123 missense probably benign 0.01
Posted On2013-12-09