Incidental Mutation 'IGL01595:Gpr37'
ID |
93381 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gpr37
|
Ensembl Gene |
ENSMUSG00000039904 |
Gene Name |
G protein-coupled receptor 37 |
Synonyms |
parkin-associated endothelin B-like receptor, Pael-R |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.141)
|
Stock # |
IGL01595
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
25668522-25689979 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 25669572 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Asparagine
at position 424
(T424N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000052185
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054867]
[ENSMUST00000200812]
|
AlphaFold |
Q9QY42 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000054867
AA Change: T424N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000052185 Gene: ENSMUSG00000039904 AA Change: T424N
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 |
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acbd5 |
A |
G |
2: 22,968,181 (GRCm39) |
M111V |
probably damaging |
Het |
Adamts14 |
A |
T |
10: 61,041,252 (GRCm39) |
H819Q |
probably damaging |
Het |
Adamts7 |
T |
A |
9: 90,075,359 (GRCm39) |
N1072K |
probably benign |
Het |
Ahnak |
T |
A |
19: 8,980,865 (GRCm39) |
Y716* |
probably null |
Het |
Arfgef3 |
T |
C |
10: 18,470,660 (GRCm39) |
K1702E |
possibly damaging |
Het |
BB014433 |
C |
A |
8: 15,092,499 (GRCm39) |
|
probably null |
Het |
Bdnf |
A |
T |
2: 109,554,273 (GRCm39) |
K176* |
probably null |
Het |
C2cd5 |
C |
T |
6: 142,963,748 (GRCm39) |
R879H |
probably damaging |
Het |
Capn11 |
T |
A |
17: 45,950,360 (GRCm39) |
H327L |
probably benign |
Het |
Ccdc68 |
A |
G |
18: 70,089,117 (GRCm39) |
N220S |
probably benign |
Het |
Cftr |
T |
C |
6: 18,198,238 (GRCm39) |
|
probably benign |
Het |
Clca3a2 |
G |
A |
3: 144,793,768 (GRCm39) |
L296F |
probably damaging |
Het |
Cubn |
A |
T |
2: 13,330,027 (GRCm39) |
L2618Q |
probably benign |
Het |
Gfi1b |
A |
G |
2: 28,501,429 (GRCm39) |
|
probably null |
Het |
Kank3 |
G |
A |
17: 34,038,154 (GRCm39) |
|
probably null |
Het |
Kcnh5 |
T |
C |
12: 74,945,101 (GRCm39) |
Q716R |
probably benign |
Het |
Kntc1 |
G |
A |
5: 123,941,758 (GRCm39) |
M1817I |
probably benign |
Het |
Krt79 |
T |
G |
15: 101,840,206 (GRCm39) |
E330A |
probably damaging |
Het |
Mapk15 |
C |
A |
15: 75,867,129 (GRCm39) |
P82Q |
probably benign |
Het |
Myh15 |
A |
T |
16: 48,993,312 (GRCm39) |
D1649V |
probably damaging |
Het |
Myo1d |
T |
C |
11: 80,566,936 (GRCm39) |
I326V |
probably benign |
Het |
Nek9 |
A |
T |
12: 85,361,194 (GRCm39) |
W504R |
probably damaging |
Het |
Nlrp4c |
T |
A |
7: 6,069,111 (GRCm39) |
C337* |
probably null |
Het |
Nup160 |
A |
G |
2: 90,560,081 (GRCm39) |
N1269D |
probably damaging |
Het |
Or52e3 |
A |
G |
7: 102,869,558 (GRCm39) |
D211G |
probably damaging |
Het |
Or56b2 |
T |
C |
7: 104,337,285 (GRCm39) |
M21T |
possibly damaging |
Het |
Or8c10 |
T |
C |
9: 38,279,346 (GRCm39) |
V168A |
probably benign |
Het |
Pde6a |
A |
G |
18: 61,414,599 (GRCm39) |
M36V |
probably damaging |
Het |
Perp |
A |
G |
10: 18,731,407 (GRCm39) |
Q122R |
probably damaging |
Het |
S100a7a |
T |
C |
3: 90,565,107 (GRCm39) |
Y101H |
probably benign |
Het |
Sbk2 |
C |
A |
7: 4,960,712 (GRCm39) |
V153L |
possibly damaging |
Het |
Serpinb7 |
A |
T |
1: 107,356,052 (GRCm39) |
N25I |
probably damaging |
Het |
Tbx5 |
A |
T |
5: 119,978,903 (GRCm39) |
D105V |
probably damaging |
Het |
Trip6 |
T |
A |
5: 137,311,675 (GRCm39) |
T101S |
probably benign |
Het |
Ush2a |
T |
A |
1: 188,386,921 (GRCm39) |
|
probably null |
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 |
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 |
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 |
|
Posted On |
2013-12-09 |