Incidental Mutation 'R4119:Gpr37'
| ID |
315222 |
| 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 |
040992-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.157)
|
| Stock # |
R4119 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
25668522-25689979 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 25688425 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 224
(R224H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144683
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054867]
[ENSMUST00000200812]
|
| AlphaFold |
Q9QY42 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000054867
AA Change: R224H
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000052185
Gene: ENSMUSG00000039904
AA Change: R224H
| 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 |
possibly damaging
Transcript: ENSMUST00000200812
AA Change: R224H
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000144683
Gene: ENSMUSG00000039904
AA Change: R224H
| 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 |
0.0896 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
98% (46/47) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013D24Rik |
A |
G |
6: 124,333,863 (GRCm39) |
L39P |
probably damaging |
Het |
| Abcc1 |
A |
G |
16: 14,211,877 (GRCm39) |
M138V |
probably benign |
Het |
| Abl1 |
T |
A |
2: 31,691,739 (GRCm39) |
I1067N |
probably damaging |
Het |
| Adam6a |
C |
T |
12: 113,508,194 (GRCm39) |
T189I |
probably benign |
Het |
| Ankfy1 |
G |
A |
11: 72,605,310 (GRCm39) |
|
probably null |
Het |
| Aplnr |
T |
C |
2: 84,967,310 (GRCm39) |
Y112H |
possibly damaging |
Het |
| Arhgap17 |
A |
G |
7: 122,906,217 (GRCm39) |
F313S |
probably damaging |
Het |
| Arid1b |
T |
C |
17: 5,046,069 (GRCm39) |
|
probably benign |
Het |
| Bcas1 |
G |
C |
2: 170,220,735 (GRCm39) |
P394A |
probably benign |
Het |
| Ccdc116 |
A |
G |
16: 16,960,051 (GRCm39) |
S213P |
probably damaging |
Het |
| Cdh15 |
T |
C |
8: 123,590,162 (GRCm39) |
V365A |
probably damaging |
Het |
| Cenpf |
A |
G |
1: 189,385,242 (GRCm39) |
I2346T |
probably benign |
Het |
| Chd7 |
A |
G |
4: 8,785,658 (GRCm39) |
|
probably benign |
Het |
| Ezh2 |
A |
C |
6: 47,521,482 (GRCm39) |
N390K |
probably benign |
Het |
| Fbxo7 |
C |
A |
10: 85,857,759 (GRCm39) |
|
probably benign |
Het |
| Fibin |
A |
G |
2: 110,193,035 (GRCm39) |
Y36H |
probably damaging |
Het |
| Hars2 |
A |
T |
18: 36,923,541 (GRCm39) |
N363I |
probably damaging |
Het |
| Ip6k2 |
G |
A |
9: 108,682,847 (GRCm39) |
R319Q |
probably benign |
Het |
| Itpr1 |
G |
A |
6: 108,371,316 (GRCm39) |
D1140N |
probably benign |
Het |
| Lrig2 |
A |
G |
3: 104,374,511 (GRCm39) |
V190A |
probably benign |
Het |
| Ltk |
T |
A |
2: 119,588,429 (GRCm39) |
|
probably benign |
Het |
| Morc2a |
C |
A |
11: 3,633,868 (GRCm39) |
T660N |
probably benign |
Het |
| Msh3 |
A |
G |
13: 92,490,519 (GRCm39) |
|
probably benign |
Het |
| Myo15b |
T |
C |
11: 115,764,318 (GRCm39) |
S1311P |
probably benign |
Het |
| Nbeal1 |
A |
T |
1: 60,331,029 (GRCm39) |
I2213L |
probably damaging |
Het |
| Or10ag57 |
T |
A |
2: 87,218,187 (GRCm39) |
M46K |
possibly damaging |
Het |
| Or5d16 |
A |
G |
2: 87,773,787 (GRCm39) |
Y62H |
probably damaging |
Het |
| P2ry12 |
T |
C |
3: 59,125,262 (GRCm39) |
T138A |
probably benign |
Het |
| Pirb |
T |
C |
7: 3,720,574 (GRCm39) |
D308G |
probably damaging |
Het |
| Pkn3 |
A |
G |
2: 29,973,049 (GRCm39) |
|
probably benign |
Het |
| Ripor1 |
T |
A |
8: 106,345,489 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,794,153 (GRCm39) |
T942A |
probably benign |
Het |
| Spata31e5 |
A |
T |
1: 28,817,054 (GRCm39) |
V326D |
probably damaging |
Het |
| Sptbn5 |
T |
A |
2: 119,895,010 (GRCm39) |
D798V |
possibly damaging |
Het |
| Synpo2 |
T |
A |
3: 122,910,799 (GRCm39) |
D282V |
probably damaging |
Het |
| Tnik |
T |
C |
3: 28,720,324 (GRCm39) |
F1287L |
probably damaging |
Het |
| Tshz1 |
T |
G |
18: 84,032,314 (GRCm39) |
K698T |
probably benign |
Het |
| Ttc23l |
A |
C |
15: 10,540,006 (GRCm39) |
V159G |
probably damaging |
Het |
| Urb2 |
T |
A |
8: 124,773,979 (GRCm39) |
D1503E |
probably benign |
Het |
| Usp29 |
T |
A |
7: 6,965,805 (GRCm39) |
N549K |
probably benign |
Het |
| Vmn2r39 |
G |
A |
7: 9,026,673 (GRCm39) |
H443Y |
probably benign |
Het |
| Zfp24 |
A |
G |
18: 24,147,626 (GRCm39) |
Y229H |
possibly damaging |
Het |
| Zfp472 |
T |
A |
17: 33,197,189 (GRCm39) |
Y421* |
probably null |
Het |
| Zkscan3 |
T |
C |
13: 21,578,119 (GRCm39) |
E256G |
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 |
|
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 |
|
|
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'- GATGCTCCTCATGTAGTAATTGTGAC -3'
(R):5'- AGAGATGAGTTCCAAGCGCG -3'
Sequencing Primer
(F):5'- GTAATTGTGACACACGATGCAC -3'
(R):5'- TTCCAAGCGCGATGGGATTC -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation