Incidental Mutation 'R8839:Gpr37'
ID |
674313 |
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 |
068667-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.141)
|
Stock # |
R8839 (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 G
at 25669369 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 492
(I492L)
|
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: I492L
PolyPhen 2
Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000052185 Gene: ENSMUSG00000039904 AA Change: I492L
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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (51/51) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ace3 |
T |
C |
11: 105,889,194 (GRCm39) |
Y475H |
probably damaging |
Het |
Ankfy1 |
T |
C |
11: 72,621,392 (GRCm39) |
I226T |
probably benign |
Het |
Anln |
G |
A |
9: 22,267,468 (GRCm39) |
S825L |
probably benign |
Het |
Aoc1l2 |
T |
C |
6: 48,907,974 (GRCm39) |
Y325H |
probably damaging |
Het |
Arb2a |
A |
T |
13: 78,147,781 (GRCm39) |
H283L |
probably benign |
Het |
B3galt4 |
A |
G |
17: 34,169,867 (GRCm39) |
S124P |
possibly damaging |
Het |
Cabin1 |
T |
C |
10: 75,492,650 (GRCm39) |
I1882V |
probably benign |
Het |
Caprin2 |
A |
T |
6: 148,774,525 (GRCm39) |
S262R |
probably benign |
Het |
Csmd2 |
A |
C |
4: 128,336,681 (GRCm39) |
I1420L |
|
Het |
Cyp2b9 |
T |
G |
7: 25,900,185 (GRCm39) |
V331G |
probably damaging |
Het |
Cyp3a59 |
A |
T |
5: 146,045,896 (GRCm39) |
M433L |
probably benign |
Het |
Edrf1 |
A |
G |
7: 133,255,644 (GRCm39) |
D597G |
probably benign |
Het |
Emc3 |
G |
A |
6: 113,496,931 (GRCm39) |
R147C |
possibly damaging |
Het |
Fkbp7 |
T |
C |
2: 76,497,581 (GRCm39) |
|
probably benign |
Het |
Flii |
T |
C |
11: 60,609,433 (GRCm39) |
T665A |
possibly damaging |
Het |
Fxr1 |
A |
G |
3: 34,100,831 (GRCm39) |
|
probably benign |
Het |
Hmg20b |
A |
C |
10: 81,184,749 (GRCm39) |
W108G |
probably damaging |
Het |
Ighv9-3 |
G |
A |
12: 114,104,385 (GRCm39) |
T93I |
possibly damaging |
Het |
Inpp5a |
T |
C |
7: 138,969,349 (GRCm39) |
V15A |
probably benign |
Het |
Inpp5d |
T |
A |
1: 87,619,433 (GRCm39) |
Y376N |
probably damaging |
Het |
Ints6 |
A |
G |
14: 62,931,122 (GRCm39) |
F854L |
probably benign |
Het |
Ipo7 |
A |
T |
7: 109,641,223 (GRCm39) |
K314N |
probably damaging |
Het |
Ltn1 |
C |
A |
16: 87,215,390 (GRCm39) |
C415F |
probably damaging |
Het |
Mfsd9 |
T |
C |
1: 40,813,554 (GRCm39) |
T254A |
probably benign |
Het |
Musk |
A |
G |
4: 58,286,151 (GRCm39) |
T14A |
probably benign |
Het |
Ncapd3 |
T |
C |
9: 27,005,730 (GRCm39) |
V1438A |
|
Het |
Nnt |
A |
T |
13: 119,494,173 (GRCm39) |
V636D |
unknown |
Het |
Or10ak14 |
A |
G |
4: 118,611,411 (GRCm39) |
L110P |
probably damaging |
Het |
Or11h23 |
A |
T |
14: 50,947,957 (GRCm39) |
T57S |
possibly damaging |
Het |
Or52ae9 |
A |
G |
7: 103,390,021 (GRCm39) |
I142T |
probably benign |
Het |
Ost4 |
T |
C |
5: 31,064,935 (GRCm39) |
|
probably benign |
Het |
Pdzph1 |
T |
C |
17: 59,257,237 (GRCm39) |
T934A |
probably benign |
Het |
Plekhn1 |
T |
A |
4: 156,307,046 (GRCm39) |
|
probably benign |
Het |
Prkd1 |
T |
C |
12: 50,389,616 (GRCm39) |
|
probably benign |
Het |
Ptch1 |
A |
T |
13: 63,689,038 (GRCm39) |
L413Q |
probably damaging |
Het |
S100pbp |
A |
G |
4: 129,076,000 (GRCm39) |
|
probably null |
Het |
Sec23a |
T |
C |
12: 59,037,781 (GRCm39) |
K361E |
possibly damaging |
Het |
Sema3b |
C |
T |
9: 107,478,552 (GRCm39) |
|
probably benign |
Het |
Serpina3g |
A |
G |
12: 104,204,038 (GRCm39) |
|
probably benign |
Het |
Slc23a2 |
C |
T |
2: 131,943,392 (GRCm39) |
|
silent |
Het |
Smug1 |
T |
C |
15: 103,064,247 (GRCm39) |
R225G |
possibly damaging |
Het |
Srbd1 |
T |
A |
17: 86,295,849 (GRCm39) |
I854L |
probably benign |
Het |
Tbc1d16 |
G |
A |
11: 119,047,474 (GRCm39) |
R417C |
probably damaging |
Het |
Tiam1 |
A |
G |
16: 89,681,827 (GRCm39) |
Y384H |
probably damaging |
Het |
Trappc9 |
T |
A |
15: 72,930,087 (GRCm39) |
K90* |
probably null |
Het |
Tubgcp6 |
A |
T |
15: 88,987,681 (GRCm39) |
H1097Q |
possibly damaging |
Het |
Ugt2b37 |
A |
G |
5: 87,402,415 (GRCm39) |
L72P |
probably damaging |
Het |
Vmn2r20 |
A |
T |
6: 123,373,515 (GRCm39) |
H442Q |
possibly damaging |
Het |
Vmn2r65 |
A |
T |
7: 84,595,489 (GRCm39) |
Y398* |
probably null |
Het |
Zfhx4 |
A |
G |
3: 5,466,915 (GRCm39) |
T2383A |
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 |
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 |
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'- CAAGGCTTTGGTGGTATTTTGGC -3'
|
Posted On |
2021-07-15 |