Incidental Mutation 'R6760:Gpr37'
| ID |
531189 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpr37
|
| Ensembl Gene |
ENSMUSG00000039904 |
| Gene Name |
G protein-coupled receptor 37 |
| Synonyms |
parkin-associated endothelin B-like receptor, Pael-R |
| MMRRC Submission |
044876-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.157)
|
| Stock # |
R6760 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
25668522-25689979 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25669168 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 559
(I559V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052185
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054867]
[ENSMUST00000200812]
|
| AlphaFold |
Q9QY42 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054867
AA Change: I559V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000052185
Gene: ENSMUSG00000039904
AA Change: I559V
| 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 benign
Transcript: ENSMUST00000200812
|
| SMART Domains |
Protein: ENSMUSP00000144683
Gene: ENSMUSG00000039904
| 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 |
|
| Meta Mutation Damage Score |
0.0886 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.8%
|
| Validation Efficiency |
97% (35/36) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aco1 |
C |
A |
4: 40,180,210 (GRCm39) |
C370* |
probably null |
Het |
| Akap6 |
C |
T |
12: 53,186,561 (GRCm39) |
S1325L |
probably damaging |
Het |
| Atp2a3 |
A |
G |
11: 72,873,566 (GRCm39) |
D813G |
probably damaging |
Het |
| Baz2b |
T |
A |
2: 59,792,776 (GRCm39) |
I451F |
probably benign |
Het |
| Calm2 |
T |
C |
17: 87,743,123 (GRCm39) |
D65G |
probably benign |
Het |
| Cdh23 |
C |
T |
10: 60,141,947 (GRCm39) |
V3049M |
probably damaging |
Het |
| Cfap46 |
A |
G |
7: 139,232,356 (GRCm39) |
L869P |
probably damaging |
Het |
| Chrna9 |
T |
A |
5: 66,128,571 (GRCm39) |
Y260N |
probably damaging |
Het |
| Clock |
G |
A |
5: 76,374,823 (GRCm39) |
P782L |
unknown |
Het |
| Coro2a |
A |
G |
4: 46,540,572 (GRCm39) |
M449T |
probably benign |
Het |
| Crispld1 |
T |
G |
1: 17,821,025 (GRCm39) |
V355G |
possibly damaging |
Het |
| Dnah7c |
C |
A |
1: 46,688,500 (GRCm39) |
T1890K |
probably benign |
Het |
| Dnah7c |
A |
G |
1: 46,688,511 (GRCm39) |
S1894G |
probably benign |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Grik5 |
A |
G |
7: 24,758,364 (GRCm39) |
|
probably null |
Het |
| Itga8 |
T |
C |
2: 12,306,451 (GRCm39) |
Y48C |
probably damaging |
Het |
| Manba |
T |
C |
3: 135,248,212 (GRCm39) |
V367A |
probably damaging |
Het |
| Mrgpra1 |
G |
A |
7: 46,984,789 (GRCm39) |
R297W |
probably benign |
Het |
| Myh7b |
C |
A |
2: 155,462,038 (GRCm39) |
Y311* |
probably null |
Het |
| Nmd3 |
T |
A |
3: 69,654,170 (GRCm39) |
|
probably null |
Het |
| Or5m9 |
T |
A |
2: 85,877,358 (GRCm39) |
C177* |
probably null |
Het |
| Pakap |
T |
C |
4: 57,856,026 (GRCm39) |
W493R |
probably damaging |
Het |
| Pcdhb11 |
A |
T |
18: 37,554,637 (GRCm39) |
|
probably benign |
Het |
| Plcb1 |
C |
T |
2: 135,313,980 (GRCm39) |
T1144M |
possibly damaging |
Het |
| Sfrp1 |
A |
G |
8: 23,901,904 (GRCm39) |
D35G |
probably damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Timeless |
A |
G |
10: 128,081,986 (GRCm39) |
K537R |
probably benign |
Het |
| Tnrc6a |
T |
A |
7: 122,771,222 (GRCm39) |
V1004E |
probably damaging |
Het |
| Tubb4a |
T |
C |
17: 57,387,796 (GRCm39) |
E410G |
possibly damaging |
Het |
| U2surp |
G |
A |
9: 95,375,764 (GRCm39) |
A143V |
probably benign |
Het |
| Vmn2r118 |
T |
A |
17: 55,899,714 (GRCm39) |
H730L |
possibly damaging |
Het |
| Vmn2r28 |
G |
A |
7: 5,484,229 (GRCm39) |
T657I |
probably damaging |
Het |
| Ybey |
A |
T |
10: 76,304,033 (GRCm39) |
N56K |
probably benign |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTGTGCATTGTTCCCCTG -3'
(R):5'- ACATTGTCACTGCCTACATGG -3'
Sequencing Primer
(F):5'- GTTCCCCTGTAAGGAAAAATATGG -3'
(R):5'- GCCACGGGCGTCTCTCAG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation