Incidental Mutation 'R0097:Gpr87'
ID |
17218 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gpr87
|
Ensembl Gene |
ENSMUSG00000051431 |
Gene Name |
G protein-coupled receptor 87 |
Synonyms |
|
MMRRC Submission |
038383-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0097 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
59086344-59102525 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 59086506 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 333
(T333I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143683
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040325]
[ENSMUST00000056898]
[ENSMUST00000164225]
[ENSMUST00000199659]
[ENSMUST00000200095]
|
AlphaFold |
Q99MT7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040325
|
SMART Domains |
Protein: ENSMUSP00000042269 Gene: ENSMUSG00000056476
Domain | Start | End | E-Value | Type |
Med12
|
101 |
161 |
1.71e-24 |
SMART |
low complexity region
|
216 |
224 |
N/A |
INTRINSIC |
low complexity region
|
269 |
278 |
N/A |
INTRINSIC |
Pfam:Med12-LCEWAV
|
282 |
730 |
2.6e-207 |
PFAM |
low complexity region
|
744 |
758 |
N/A |
INTRINSIC |
low complexity region
|
853 |
872 |
N/A |
INTRINSIC |
low complexity region
|
1455 |
1466 |
N/A |
INTRINSIC |
low complexity region
|
1728 |
1742 |
N/A |
INTRINSIC |
low complexity region
|
1769 |
1783 |
N/A |
INTRINSIC |
Pfam:Med12-PQL
|
1803 |
2029 |
2.3e-14 |
PFAM |
low complexity region
|
2055 |
2076 |
N/A |
INTRINSIC |
low complexity region
|
2083 |
2101 |
N/A |
INTRINSIC |
low complexity region
|
2116 |
2136 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000056898
AA Change: T334I
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000059272 Gene: ENSMUSG00000051431 AA Change: T334I
Domain | Start | End | E-Value | Type |
Pfam:7tm_1
|
60 |
315 |
1.4e-36 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164225
|
SMART Domains |
Protein: ENSMUSP00000127038 Gene: ENSMUSG00000056476
Domain | Start | End | E-Value | Type |
Med12
|
101 |
161 |
1.71e-24 |
SMART |
low complexity region
|
216 |
224 |
N/A |
INTRINSIC |
low complexity region
|
269 |
278 |
N/A |
INTRINSIC |
Pfam:Med12-LCEWAV
|
283 |
765 |
5e-187 |
PFAM |
low complexity region
|
779 |
793 |
N/A |
INTRINSIC |
low complexity region
|
888 |
907 |
N/A |
INTRINSIC |
low complexity region
|
1490 |
1501 |
N/A |
INTRINSIC |
low complexity region
|
1763 |
1777 |
N/A |
INTRINSIC |
low complexity region
|
1804 |
1818 |
N/A |
INTRINSIC |
Pfam:Med12-PQL
|
1840 |
2063 |
9.7e-66 |
PFAM |
low complexity region
|
2090 |
2111 |
N/A |
INTRINSIC |
low complexity region
|
2118 |
2136 |
N/A |
INTRINSIC |
low complexity region
|
2151 |
2171 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199659
|
SMART Domains |
Protein: ENSMUSP00000142903 Gene: ENSMUSG00000056476
Domain | Start | End | E-Value | Type |
Med12
|
101 |
161 |
1.71e-24 |
SMART |
low complexity region
|
216 |
224 |
N/A |
INTRINSIC |
low complexity region
|
269 |
278 |
N/A |
INTRINSIC |
Pfam:Med12-LCEWAV
|
282 |
765 |
5.5e-209 |
PFAM |
low complexity region
|
779 |
793 |
N/A |
INTRINSIC |
low complexity region
|
888 |
907 |
N/A |
INTRINSIC |
low complexity region
|
1490 |
1501 |
N/A |
INTRINSIC |
low complexity region
|
1761 |
1775 |
N/A |
INTRINSIC |
low complexity region
|
1802 |
1816 |
N/A |
INTRINSIC |
Pfam:Med12-PQL
|
1836 |
2062 |
1.7e-15 |
PFAM |
low complexity region
|
2088 |
2130 |
N/A |
INTRINSIC |
low complexity region
|
2144 |
2164 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199833
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000200095
AA Change: T333I
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000143683 Gene: ENSMUSG00000051431 AA Change: T333I
Domain | Start | End | E-Value | Type |
Pfam:7tm_1
|
59 |
314 |
3.5e-37 |
PFAM |
|
Meta Mutation Damage Score |
0.0865 |
Coding Region Coverage |
- 1x: 89.4%
- 3x: 86.4%
- 10x: 78.0%
- 20x: 64.9%
|
Validation Efficiency |
86% (56/65) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a G protein-coupled receptor and is located in a cluster of G protein-couple receptor genes on chromosome 3. The encoded protein has been shown to be overexpressed in lung squamous cell carcinoma (PMID:18057535) and regulated by p53 (PMID:19602589). [provided by RefSeq, Nov 2011] PHENOTYPE: Mice homozygous for a null allele exhibit decreased mean vertebral and femoral bone measurements. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700006A11Rik |
A |
T |
3: 124,206,129 (GRCm39) |
I353K |
probably benign |
Het |
Albfm1 |
T |
A |
5: 90,732,795 (GRCm39) |
S535R |
probably benign |
Het |
Arfgap2 |
T |
A |
2: 91,105,160 (GRCm39) |
V422E |
probably benign |
Het |
Baz1b |
T |
C |
5: 135,227,113 (GRCm39) |
S105P |
probably benign |
Het |
Cacna1s |
T |
A |
1: 136,028,360 (GRCm39) |
M899K |
possibly damaging |
Het |
Ccnd2 |
G |
A |
6: 127,123,015 (GRCm39) |
A180V |
probably benign |
Het |
Ciao3 |
T |
C |
17: 25,995,976 (GRCm39) |
S67P |
possibly damaging |
Het |
Dmrta1 |
A |
T |
4: 89,577,109 (GRCm39) |
R188S |
probably benign |
Het |
Eml3 |
T |
A |
19: 8,914,015 (GRCm39) |
F465L |
probably benign |
Het |
Gm9938 |
T |
A |
19: 23,701,828 (GRCm39) |
|
probably benign |
Het |
Lzic |
A |
G |
4: 149,572,533 (GRCm39) |
E41G |
probably damaging |
Het |
Mprip |
T |
A |
11: 59,649,317 (GRCm39) |
L1007Q |
possibly damaging |
Het |
Mtfr2 |
T |
A |
10: 20,224,122 (GRCm39) |
S19T |
probably damaging |
Het |
Mycbp2 |
A |
T |
14: 103,393,198 (GRCm39) |
M3121K |
probably damaging |
Het |
Myocd |
T |
A |
11: 65,069,840 (GRCm39) |
M667L |
possibly damaging |
Het |
Neb |
T |
C |
2: 52,094,906 (GRCm39) |
N4882S |
probably damaging |
Het |
Neo1 |
T |
C |
9: 58,882,021 (GRCm38) |
|
probably benign |
Het |
Neu2 |
A |
G |
1: 87,525,188 (GRCm39) |
D391G |
probably benign |
Het |
Nol4 |
C |
A |
18: 22,852,198 (GRCm39) |
A456S |
probably benign |
Het |
Or5m13 |
T |
C |
2: 85,749,184 (GRCm39) |
V305A |
probably benign |
Het |
Padi6 |
C |
T |
4: 140,458,268 (GRCm39) |
V513M |
probably benign |
Het |
Prss38 |
A |
G |
11: 59,266,434 (GRCm39) |
L8S |
possibly damaging |
Het |
Rab5b |
A |
T |
10: 128,518,809 (GRCm39) |
F108I |
probably damaging |
Het |
Ryr3 |
T |
C |
2: 112,630,400 (GRCm39) |
D2157G |
probably damaging |
Het |
Secisbp2l |
T |
C |
2: 125,613,376 (GRCm39) |
D206G |
probably damaging |
Het |
Sh3pxd2b |
T |
A |
11: 32,353,978 (GRCm39) |
I182N |
probably damaging |
Het |
Slc3a1 |
A |
T |
17: 85,340,288 (GRCm39) |
I237F |
probably damaging |
Het |
St6galnac6 |
T |
C |
2: 32,489,814 (GRCm39) |
L8P |
probably damaging |
Het |
T |
A |
T |
17: 8,658,733 (GRCm39) |
|
probably benign |
Het |
Tenm4 |
A |
T |
7: 96,542,133 (GRCm39) |
D1882V |
probably damaging |
Het |
Tgfbr1 |
T |
A |
4: 47,403,451 (GRCm39) |
L283* |
probably null |
Het |
Ubp1 |
T |
C |
9: 113,802,575 (GRCm39) |
|
probably benign |
Het |
Ushbp1 |
C |
T |
8: 71,843,357 (GRCm39) |
C314Y |
probably damaging |
Het |
Vav2 |
A |
T |
2: 27,189,374 (GRCm39) |
|
probably benign |
Het |
Vmn1r228 |
T |
C |
17: 20,996,625 (GRCm39) |
M298V |
probably benign |
Het |
Zmpste24 |
A |
T |
4: 120,952,740 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Gpr87 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00496:Gpr87
|
APN |
3 |
59,087,211 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02309:Gpr87
|
APN |
3 |
59,086,975 (GRCm39) |
missense |
possibly damaging |
0.74 |
IGL02614:Gpr87
|
APN |
3 |
59,086,738 (GRCm39) |
missense |
probably damaging |
1.00 |
R0097:Gpr87
|
UTSW |
3 |
59,086,506 (GRCm39) |
missense |
probably damaging |
1.00 |
R0113:Gpr87
|
UTSW |
3 |
59,086,932 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1801:Gpr87
|
UTSW |
3 |
59,086,813 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2213:Gpr87
|
UTSW |
3 |
59,086,465 (GRCm39) |
missense |
probably damaging |
0.99 |
R2698:Gpr87
|
UTSW |
3 |
59,086,587 (GRCm39) |
missense |
probably damaging |
1.00 |
R5459:Gpr87
|
UTSW |
3 |
59,087,148 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5490:Gpr87
|
UTSW |
3 |
59,086,747 (GRCm39) |
missense |
probably damaging |
0.99 |
R5963:Gpr87
|
UTSW |
3 |
59,086,690 (GRCm39) |
nonsense |
probably null |
|
R6189:Gpr87
|
UTSW |
3 |
59,086,650 (GRCm39) |
missense |
probably damaging |
1.00 |
R6251:Gpr87
|
UTSW |
3 |
59,086,528 (GRCm39) |
missense |
probably damaging |
0.99 |
R7863:Gpr87
|
UTSW |
3 |
59,087,317 (GRCm39) |
missense |
probably damaging |
1.00 |
R8008:Gpr87
|
UTSW |
3 |
59,087,466 (GRCm39) |
missense |
probably benign |
|
R8065:Gpr87
|
UTSW |
3 |
59,087,308 (GRCm39) |
missense |
probably damaging |
1.00 |
R8067:Gpr87
|
UTSW |
3 |
59,087,308 (GRCm39) |
missense |
probably damaging |
1.00 |
R8096:Gpr87
|
UTSW |
3 |
59,087,229 (GRCm39) |
missense |
possibly damaging |
0.70 |
R8141:Gpr87
|
UTSW |
3 |
59,087,020 (GRCm39) |
missense |
probably damaging |
1.00 |
R8326:Gpr87
|
UTSW |
3 |
59,102,395 (GRCm39) |
start gained |
probably benign |
|
R9326:Gpr87
|
UTSW |
3 |
59,086,609 (GRCm39) |
missense |
probably damaging |
1.00 |
R9485:Gpr87
|
UTSW |
3 |
59,087,005 (GRCm39) |
missense |
possibly damaging |
0.85 |
Z1177:Gpr87
|
UTSW |
3 |
59,087,491 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2013-01-20 |