Incidental Mutation 'R0534:Gpr37'
| ID |
49361 |
| 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 |
038726-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.157)
|
| Stock # |
R0534 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
25668522-25689979 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 25669823 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 340
(C340*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144683
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054867]
[ENSMUST00000200812]
|
| AlphaFold |
Q9QY42 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000054867
AA Change: C340*
|
| SMART Domains |
Protein: ENSMUSP00000052185
Gene: ENSMUSG00000039904
AA Change: C340*
| 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 null
Transcript: ENSMUST00000200812
AA Change: C340*
|
| SMART Domains |
Protein: ENSMUSP00000144683
Gene: ENSMUSG00000039904
AA Change: C340*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.8%
|
| Validation Efficiency |
96% (47/49) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cand2 |
A |
G |
6: 115,764,197 (GRCm39) |
M324V |
probably damaging |
Het |
| Cap1 |
C |
T |
4: 122,756,512 (GRCm39) |
V340M |
probably benign |
Het |
| Ccdc110 |
T |
C |
8: 46,388,175 (GRCm39) |
V44A |
possibly damaging |
Het |
| Cps1 |
A |
G |
1: 67,183,059 (GRCm39) |
D139G |
probably benign |
Het |
| Cwc27 |
T |
A |
13: 104,768,124 (GRCm39) |
E457V |
unknown |
Het |
| Cxxc1 |
C |
T |
18: 74,351,962 (GRCm39) |
P280S |
probably benign |
Het |
| Dennd2b |
A |
T |
7: 109,140,635 (GRCm39) |
V197D |
probably damaging |
Het |
| Dop1b |
T |
A |
16: 93,559,393 (GRCm39) |
L595Q |
probably benign |
Het |
| Dscam |
G |
T |
16: 96,453,372 (GRCm39) |
S1292R |
possibly damaging |
Het |
| E2f4 |
C |
A |
8: 106,030,851 (GRCm39) |
F353L |
probably damaging |
Het |
| Ep300 |
A |
G |
15: 81,485,097 (GRCm39) |
|
probably benign |
Het |
| Fads1 |
C |
T |
19: 10,160,429 (GRCm39) |
P5L |
probably benign |
Het |
| Fign |
T |
A |
2: 63,811,135 (GRCm39) |
H45L |
probably damaging |
Het |
| Flcn |
T |
A |
11: 59,685,025 (GRCm39) |
|
probably benign |
Het |
| Gm5141 |
A |
T |
13: 62,922,408 (GRCm39) |
F254I |
probably damaging |
Het |
| Gpbp1l1 |
T |
A |
4: 116,448,465 (GRCm39) |
N402K |
probably damaging |
Het |
| Gtf3c2 |
A |
T |
5: 31,315,476 (GRCm39) |
|
probably benign |
Het |
| Hcfc2 |
T |
A |
10: 82,574,242 (GRCm39) |
F139I |
probably damaging |
Het |
| Hectd4 |
T |
C |
5: 121,486,539 (GRCm39) |
L3178P |
possibly damaging |
Het |
| Hrc |
AGAGGAGGAGGAAGAGGAGGAGGA |
AGAGGAGGAGGAGGAAGAGGAGGAGGA |
7: 44,986,659 (GRCm39) |
|
probably benign |
Het |
| Igf2bp1 |
A |
G |
11: 95,857,622 (GRCm39) |
|
probably benign |
Het |
| Igsf9b |
T |
G |
9: 27,244,358 (GRCm39) |
|
probably null |
Het |
| Il23r |
G |
A |
6: 67,403,572 (GRCm39) |
A443V |
probably benign |
Het |
| Kcnv1 |
A |
G |
15: 44,972,645 (GRCm39) |
F413L |
probably damaging |
Het |
| Lipe |
C |
A |
7: 25,087,611 (GRCm39) |
A150S |
possibly damaging |
Het |
| Lrrcc1 |
T |
C |
3: 14,622,333 (GRCm39) |
S557P |
probably damaging |
Het |
| Mrpl54 |
C |
A |
10: 81,102,687 (GRCm39) |
W13L |
probably damaging |
Het |
| Mtcl3 |
T |
A |
10: 29,056,952 (GRCm39) |
|
probably benign |
Het |
| Myrf |
G |
C |
19: 10,195,526 (GRCm39) |
T428S |
probably benign |
Het |
| Npy1r |
C |
A |
8: 67,157,670 (GRCm39) |
Q327K |
probably damaging |
Het |
| Nt5el |
C |
A |
13: 105,218,762 (GRCm39) |
S32* |
probably null |
Het |
| Or51b17 |
C |
T |
7: 103,542,438 (GRCm39) |
R168H |
probably benign |
Het |
| Osbpl10 |
C |
T |
9: 114,996,246 (GRCm39) |
L139F |
probably damaging |
Het |
| P2rx6 |
A |
C |
16: 17,385,768 (GRCm39) |
T199P |
probably damaging |
Het |
| Phyhip |
A |
T |
14: 70,699,199 (GRCm39) |
M1L |
possibly damaging |
Het |
| Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
| Psmc1 |
T |
A |
12: 100,086,389 (GRCm39) |
I342N |
possibly damaging |
Het |
| Reln |
A |
T |
5: 22,152,406 (GRCm39) |
D2353E |
probably damaging |
Het |
| Rmdn3 |
T |
C |
2: 118,976,851 (GRCm39) |
E294G |
probably benign |
Het |
| Scnn1g |
A |
G |
7: 121,366,647 (GRCm39) |
M615V |
probably benign |
Het |
| Shcbp1l |
T |
A |
1: 153,304,314 (GRCm39) |
D124E |
possibly damaging |
Het |
| Sipa1l1 |
T |
C |
12: 82,472,054 (GRCm39) |
S1345P |
possibly damaging |
Het |
| Taf7l2 |
T |
C |
10: 115,948,707 (GRCm39) |
E273G |
possibly damaging |
Het |
| Timp4 |
A |
G |
6: 115,226,802 (GRCm39) |
Y114H |
probably damaging |
Het |
| Tlr9 |
T |
A |
9: 106,102,086 (GRCm39) |
L459Q |
probably benign |
Het |
| Tmem104 |
C |
A |
11: 115,091,654 (GRCm39) |
T59K |
probably damaging |
Het |
| Wdr59 |
GGGTGGTG |
GGGTG |
8: 112,207,172 (GRCm39) |
|
probably benign |
Het |
| Zfp622 |
A |
T |
15: 25,984,654 (GRCm39) |
I7F |
possibly damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTTGCACCATCATAGGTGAGAG -3'
(R):5'- AAAGTCACACAGGACTTGCTGACC -3'
Sequencing Primer
(F):5'- GCCAAAACATAGATTGTGTCCG -3'
(R):5'- ttcccctgctttctgctc -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation