Incidental Mutation 'IGL01670:Gpr37'
ID |
103448 |
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)
|
Stock # |
IGL01670
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
25668522-25689979 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 25669833 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 337
(F337S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144683
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054867]
[ENSMUST00000200812]
|
AlphaFold |
Q9QY42 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000054867
AA Change: F337S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000052185 Gene: ENSMUSG00000039904 AA Change: F337S
Domain | Start | End | E-Value | Type |
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 damaging
Transcript: ENSMUST00000200812
AA Change: F337S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000144683 Gene: ENSMUSG00000039904 AA Change: F337S
Domain | Start | End | E-Value | Type |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acy1 |
A |
C |
9: 106,314,006 (GRCm39) |
|
probably benign |
Het |
Add1 |
C |
A |
5: 34,777,407 (GRCm39) |
Q57K |
probably damaging |
Het |
Alms1 |
A |
G |
6: 85,655,132 (GRCm39) |
E3226G |
probably benign |
Het |
Arl1 |
G |
T |
10: 88,577,884 (GRCm39) |
R151L |
probably damaging |
Het |
Cabs1 |
T |
A |
5: 88,127,869 (GRCm39) |
D173E |
possibly damaging |
Het |
Cdc34b |
T |
C |
11: 94,632,845 (GRCm39) |
L15P |
probably benign |
Het |
Cdyl2 |
A |
G |
8: 117,351,092 (GRCm39) |
V13A |
probably damaging |
Het |
Chd7 |
G |
T |
4: 8,827,033 (GRCm39) |
R1026L |
probably damaging |
Het |
Cldn34b4 |
T |
C |
X: 75,441,195 (GRCm39) |
S151P |
probably damaging |
Het |
Col14a1 |
T |
A |
15: 55,192,662 (GRCm39) |
I25N |
unknown |
Het |
Crisp4 |
T |
A |
1: 18,198,901 (GRCm39) |
T178S |
probably benign |
Het |
Csmd2 |
C |
T |
4: 128,407,164 (GRCm39) |
|
probably benign |
Het |
Csmd3 |
T |
G |
15: 47,475,225 (GRCm39) |
N2454H |
probably damaging |
Het |
Cytip |
A |
T |
2: 58,023,785 (GRCm39) |
I345N |
probably damaging |
Het |
Frem2 |
A |
T |
3: 53,564,358 (GRCm39) |
S50T |
possibly damaging |
Het |
Gm9747 |
C |
T |
1: 82,211,870 (GRCm39) |
|
probably benign |
Het |
Herc1 |
A |
G |
9: 66,394,342 (GRCm39) |
E4182G |
probably damaging |
Het |
Isyna1 |
C |
T |
8: 71,049,706 (GRCm39) |
P511L |
probably benign |
Het |
Kdm4a |
T |
C |
4: 118,017,698 (GRCm39) |
Y456C |
probably damaging |
Het |
Kera |
A |
T |
10: 97,444,939 (GRCm39) |
R99S |
possibly damaging |
Het |
Larp7-ps |
T |
C |
4: 92,079,737 (GRCm39) |
|
probably null |
Het |
Mcm2 |
A |
G |
6: 88,864,614 (GRCm39) |
|
probably benign |
Het |
Myl12a |
T |
C |
17: 71,303,848 (GRCm39) |
T10A |
probably benign |
Het |
Nav3 |
A |
G |
10: 109,550,102 (GRCm39) |
V1876A |
possibly damaging |
Het |
Nkx6-1 |
T |
A |
5: 101,809,806 (GRCm39) |
Q247L |
probably benign |
Het |
Nol8 |
A |
C |
13: 49,814,784 (GRCm39) |
K297N |
possibly damaging |
Het |
Or4c119 |
T |
A |
2: 88,987,261 (GRCm39) |
Y86F |
probably benign |
Het |
Or51e1 |
A |
T |
7: 102,358,772 (GRCm39) |
Q102L |
probably damaging |
Het |
Or5w18 |
A |
G |
2: 87,633,224 (GRCm39) |
T164A |
probably benign |
Het |
Pard3b |
A |
T |
1: 62,250,807 (GRCm39) |
N579Y |
probably damaging |
Het |
Pdcd11 |
T |
A |
19: 47,094,743 (GRCm39) |
L509H |
probably damaging |
Het |
Prss29 |
T |
C |
17: 25,541,437 (GRCm39) |
S266P |
probably benign |
Het |
Rapgef3 |
G |
T |
15: 97,647,543 (GRCm39) |
H766N |
probably benign |
Het |
Rasa1 |
A |
T |
13: 85,373,609 (GRCm39) |
S818T |
probably damaging |
Het |
Rtn4ip1 |
A |
G |
10: 43,804,322 (GRCm39) |
M1V |
probably null |
Het |
Sall1 |
A |
T |
8: 89,758,199 (GRCm39) |
V635D |
probably benign |
Het |
Slc35b4 |
C |
T |
6: 34,147,484 (GRCm39) |
V35I |
probably benign |
Het |
Slc5a11 |
G |
A |
7: 122,869,172 (GRCm39) |
A587T |
probably benign |
Het |
Slc6a21 |
T |
C |
7: 44,937,557 (GRCm39) |
V616A |
possibly damaging |
Het |
Sorl1 |
A |
G |
9: 41,912,788 (GRCm39) |
S1398P |
possibly damaging |
Het |
Srcap |
A |
G |
7: 127,127,604 (GRCm39) |
K390E |
probably damaging |
Het |
Sycp2 |
C |
T |
2: 178,019,843 (GRCm39) |
E558K |
probably benign |
Het |
Tcf20 |
T |
C |
15: 82,739,564 (GRCm39) |
N629S |
possibly damaging |
Het |
Tmem154 |
A |
G |
3: 84,591,537 (GRCm39) |
Y29C |
probably damaging |
Het |
Tmtc3 |
A |
G |
10: 100,282,987 (GRCm39) |
I856T |
probably benign |
Het |
Zswim6 |
A |
G |
13: 107,865,101 (GRCm39) |
|
noncoding transcript |
Het |
|
Other mutations in Gpr37 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00786:Gpr37
|
APN |
6 |
25,669,317 (GRCm39) |
missense |
possibly damaging |
0.65 |
IGL01595:Gpr37
|
APN |
6 |
25,669,572 (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 |
2014-01-21 |