Incidental Mutation 'R6548:Gpr37'
| ID |
521357 |
| 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 |
044673-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.157)
|
| Stock # |
R6548 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
25668522-25689979 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 25688812 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 95
(T95I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144683
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054867]
[ENSMUST00000200812]
|
| AlphaFold |
Q9QY42 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054867
AA Change: T95I
PolyPhen 2
Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000052185
Gene: ENSMUSG00000039904
AA Change: T95I
| 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
AA Change: T95I
PolyPhen 2
Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000144683
Gene: ENSMUSG00000039904
AA Change: T95I
| 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: 99.3%
- 20x: 97.7%
|
| Validation Efficiency |
93% (38/41) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9030612E09Rik |
T |
C |
10: 43,050,769 (GRCm39) |
L21P |
probably damaging |
Het |
| Ank3 |
C |
T |
10: 69,728,240 (GRCm39) |
A642V |
probably damaging |
Het |
| Bap1 |
A |
G |
14: 30,978,182 (GRCm39) |
N349S |
probably benign |
Het |
| Brca1 |
G |
T |
11: 101,415,591 (GRCm39) |
Q32K |
probably damaging |
Het |
| Ccdc39 |
A |
T |
3: 33,892,108 (GRCm39) |
N121K |
probably benign |
Het |
| Champ1 |
A |
T |
8: 13,930,002 (GRCm39) |
N720I |
probably damaging |
Het |
| Chd3 |
T |
A |
11: 69,252,886 (GRCm39) |
R216* |
probably null |
Het |
| D630003M21Rik |
A |
G |
2: 158,047,619 (GRCm39) |
|
probably null |
Het |
| Exoc2 |
A |
T |
13: 31,010,047 (GRCm39) |
V804E |
possibly damaging |
Het |
| Fcgbp |
A |
G |
7: 27,791,343 (GRCm39) |
N868S |
probably benign |
Het |
| Gm10376 |
T |
C |
14: 42,873,025 (GRCm39) |
M1V |
probably null |
Het |
| Gpc2 |
G |
A |
5: 138,275,533 (GRCm39) |
|
probably null |
Het |
| Ints3 |
G |
A |
3: 90,299,431 (GRCm39) |
|
probably benign |
Het |
| Krt28 |
T |
C |
11: 99,257,839 (GRCm39) |
E334G |
probably damaging |
Het |
| Lrrc75a |
T |
A |
11: 62,496,921 (GRCm39) |
T214S |
probably damaging |
Het |
| Lyar |
A |
G |
5: 38,385,202 (GRCm39) |
I81V |
probably benign |
Het |
| Mon2 |
A |
T |
10: 122,871,998 (GRCm39) |
L342Q |
probably damaging |
Het |
| Mug2 |
C |
T |
6: 122,024,401 (GRCm39) |
A491V |
probably damaging |
Het |
| Myh2 |
A |
G |
11: 67,077,438 (GRCm39) |
T858A |
probably benign |
Het |
| Net1 |
C |
T |
13: 3,936,074 (GRCm39) |
|
probably null |
Het |
| Or52s1 |
T |
A |
7: 102,861,111 (GRCm39) |
Y4N |
probably benign |
Het |
| Or5p76 |
T |
C |
7: 108,122,423 (GRCm39) |
T245A |
probably benign |
Het |
| Platr25 |
A |
T |
13: 62,821,623 (GRCm39) |
I110N |
possibly damaging |
Het |
| Plk5 |
T |
A |
10: 80,198,879 (GRCm39) |
L412H |
probably damaging |
Het |
| Rasal1 |
A |
T |
5: 120,812,790 (GRCm39) |
T605S |
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,683,707 (GRCm39) |
D3119V |
probably damaging |
Het |
| Serpina1a |
G |
T |
12: 103,820,017 (GRCm39) |
H387N |
probably benign |
Het |
| Serpina1d |
G |
T |
12: 103,733,811 (GRCm39) |
N164K |
probably damaging |
Het |
| Smurf1 |
A |
G |
5: 144,836,307 (GRCm39) |
Y69H |
probably damaging |
Het |
| Sod2 |
A |
G |
17: 13,227,250 (GRCm39) |
K68R |
probably benign |
Het |
| Ssbp2 |
A |
G |
13: 91,687,470 (GRCm39) |
N51S |
possibly damaging |
Het |
| Tcl1b1 |
A |
G |
12: 105,130,663 (GRCm39) |
R49G |
probably benign |
Het |
| Tgfb1 |
A |
G |
7: 25,396,350 (GRCm39) |
I214M |
probably benign |
Het |
| Tln1 |
A |
G |
4: 43,547,525 (GRCm39) |
I812T |
probably damaging |
Het |
| Topaz1 |
T |
A |
9: 122,577,419 (GRCm39) |
C110S |
possibly damaging |
Het |
| Ubap2l |
A |
G |
3: 89,930,867 (GRCm39) |
F393L |
probably damaging |
Het |
| Vmn1r62 |
G |
A |
7: 5,678,769 (GRCm39) |
G150D |
probably damaging |
Het |
| Wdr24 |
C |
A |
17: 26,046,899 (GRCm39) |
Q651K |
probably damaging |
Het |
| Wdr7 |
A |
G |
18: 63,911,322 (GRCm39) |
T905A |
possibly damaging |
Het |
| Zfyve26 |
A |
G |
12: 79,285,109 (GRCm39) |
F2382S |
probably 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 |
|
|
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 |
|
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'- TCGCGCTTGGAACTCATCTC -3'
(R):5'- AAGGTTTCTGTCTCTGCTGC -3'
Sequencing Primer
(F):5'- GCTTGGAACTCATCTCTCCCC -3'
(R):5'- CCCAGGAATGGAACTTGTCTG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation