Incidental Mutation 'R5669:Gpr37'
ID |
442503 |
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 |
043312-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.141)
|
Stock # |
R5669 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
25668522-25689979 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 25669351 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 498
(C498S)
|
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: C498S
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000052185 Gene: ENSMUSG00000039904 AA Change: C498S
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 |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
Akap9 |
T |
A |
5: 4,100,540 (GRCm39) |
L2734* |
probably null |
Het |
Aldh1a1 |
T |
C |
19: 20,588,284 (GRCm39) |
I25T |
probably damaging |
Het |
Astl |
G |
T |
2: 127,189,199 (GRCm39) |
R175L |
probably damaging |
Het |
BC035947 |
A |
T |
1: 78,474,550 (GRCm39) |
C661S |
probably damaging |
Het |
Cd160 |
C |
T |
3: 96,716,214 (GRCm39) |
|
probably benign |
Het |
Cdc42bpb |
C |
T |
12: 111,268,447 (GRCm39) |
|
probably null |
Het |
Cdip1 |
T |
A |
16: 4,586,679 (GRCm39) |
I149F |
probably damaging |
Het |
Cfap65 |
T |
C |
1: 74,964,127 (GRCm39) |
Y607C |
probably damaging |
Het |
Col6a5 |
A |
G |
9: 105,803,197 (GRCm39) |
I1256T |
unknown |
Het |
Copb1 |
A |
G |
7: 113,836,820 (GRCm39) |
V336A |
probably damaging |
Het |
Ddx42 |
A |
T |
11: 106,132,645 (GRCm39) |
D556V |
probably damaging |
Het |
Dlk1 |
T |
C |
12: 109,425,964 (GRCm39) |
V279A |
probably benign |
Het |
Fbll1 |
T |
C |
11: 35,688,411 (GRCm39) |
N284S |
probably benign |
Het |
Fbxw21 |
A |
T |
9: 108,974,578 (GRCm39) |
I314N |
probably benign |
Het |
Foxa3 |
T |
C |
7: 18,748,176 (GRCm39) |
T317A |
probably benign |
Het |
Hapln3 |
G |
T |
7: 78,767,244 (GRCm39) |
|
probably null |
Het |
Igkv4-54 |
A |
G |
6: 69,608,832 (GRCm39) |
V29A |
possibly damaging |
Het |
Itgb8 |
T |
A |
12: 119,154,363 (GRCm39) |
I225F |
probably damaging |
Het |
Kcnk3 |
A |
G |
5: 30,779,693 (GRCm39) |
T248A |
probably damaging |
Het |
Kcnv1 |
T |
C |
15: 44,977,648 (GRCm39) |
Q130R |
possibly damaging |
Het |
Lrp1b |
T |
C |
2: 41,001,050 (GRCm39) |
H2058R |
probably damaging |
Het |
Macf1 |
T |
A |
4: 123,370,018 (GRCm39) |
E1581V |
probably damaging |
Het |
Mga |
A |
G |
2: 119,733,907 (GRCm39) |
N252D |
probably damaging |
Het |
Nadsyn1 |
C |
T |
7: 143,361,168 (GRCm39) |
G335S |
probably damaging |
Het |
Or10ag53 |
T |
C |
2: 87,082,785 (GRCm39) |
V168A |
probably benign |
Het |
Or7e165 |
T |
C |
9: 19,695,053 (GRCm39) |
F208S |
probably benign |
Het |
Pak5 |
G |
A |
2: 135,958,204 (GRCm39) |
P295S |
probably damaging |
Het |
Pcsk1 |
T |
A |
13: 75,278,221 (GRCm39) |
S595T |
probably benign |
Het |
Pepd |
T |
C |
7: 34,740,099 (GRCm39) |
V324A |
probably benign |
Het |
Pml |
C |
T |
9: 58,154,346 (GRCm39) |
D176N |
probably benign |
Het |
Popdc3 |
T |
A |
10: 45,192,529 (GRCm39) |
I163N |
probably damaging |
Het |
Ppp1r13l |
A |
C |
7: 19,106,947 (GRCm39) |
T481P |
probably benign |
Het |
Pramel13 |
T |
C |
4: 144,122,413 (GRCm39) |
I44V |
probably benign |
Het |
Prlh |
A |
G |
1: 90,880,842 (GRCm39) |
T5A |
probably benign |
Het |
Prom1 |
A |
G |
5: 44,170,285 (GRCm39) |
F638S |
possibly damaging |
Het |
Prpf8 |
T |
A |
11: 75,395,564 (GRCm39) |
L1897H |
probably damaging |
Het |
Ret |
T |
C |
6: 118,161,204 (GRCm39) |
T91A |
probably benign |
Het |
Retsat |
A |
G |
6: 72,582,993 (GRCm39) |
S176G |
probably benign |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rnf213 |
T |
C |
11: 119,349,611 (GRCm39) |
L3823P |
possibly damaging |
Het |
Rnf31 |
C |
T |
14: 55,834,161 (GRCm39) |
A653V |
probably damaging |
Het |
Rps6kl1 |
T |
C |
12: 85,194,641 (GRCm39) |
D90G |
probably damaging |
Het |
Scarb1 |
A |
G |
5: 125,377,451 (GRCm39) |
Y194H |
probably damaging |
Het |
Scube2 |
C |
T |
7: 109,424,646 (GRCm39) |
A556T |
probably benign |
Het |
Serpinb1a |
A |
G |
13: 33,029,299 (GRCm39) |
L243P |
probably damaging |
Het |
Slc39a4 |
A |
C |
15: 76,498,363 (GRCm39) |
L358R |
probably damaging |
Het |
Slitrk5 |
A |
G |
14: 111,919,055 (GRCm39) |
D893G |
probably damaging |
Het |
Srgap1 |
C |
A |
10: 121,640,755 (GRCm39) |
V681L |
probably benign |
Het |
Tmprss6 |
A |
T |
15: 78,339,156 (GRCm39) |
M262K |
possibly damaging |
Het |
Ttf2 |
T |
A |
3: 100,858,433 (GRCm39) |
K719* |
probably null |
Het |
Vmn1r62 |
T |
A |
7: 5,678,736 (GRCm39) |
L139* |
probably null |
Het |
Zfp1004 |
A |
G |
2: 150,034,098 (GRCm39) |
I140V |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCGTTGTCGTCACTGGTCAC -3'
(R):5'- CCTATGATGGTGCAAGGCTTTG -3'
Sequencing Primer
(F):5'- GTGGAAGACTTCTGGATACACTCC -3'
(R):5'- GGCTGCTACTTTTGTCTGCC -3'
|
Posted On |
2016-11-09 |