Incidental Mutation 'R5459:Gpr87'
ID |
432917 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gpr87
|
Ensembl Gene |
ENSMUSG00000051431 |
Gene Name |
G protein-coupled receptor 87 |
Synonyms |
|
MMRRC Submission |
043022-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5459 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
59086344-59102525 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 59087148 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 119
(V119A)
|
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 |
possibly damaging
Transcript: ENSMUST00000056898
AA Change: V120A
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000059272 Gene: ENSMUSG00000051431 AA Change: V120A
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 |
possibly damaging
Transcript: ENSMUST00000200095
AA Change: V119A
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000143683 Gene: ENSMUSG00000051431 AA Change: V119A
Domain | Start | End | E-Value | Type |
Pfam:7tm_1
|
59 |
314 |
3.5e-37 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2300002M23Rik |
A |
G |
17: 35,879,079 (GRCm39) |
E139G |
possibly damaging |
Het |
Abcc6 |
T |
C |
7: 45,631,607 (GRCm39) |
N1223S |
probably benign |
Het |
Adamts3 |
A |
T |
5: 89,839,332 (GRCm39) |
|
probably null |
Het |
Aloxe3 |
T |
A |
11: 69,023,654 (GRCm39) |
F259Y |
possibly damaging |
Het |
Armc9 |
G |
A |
1: 86,135,694 (GRCm39) |
R550Q |
probably damaging |
Het |
Ctnnd2 |
A |
G |
15: 30,887,334 (GRCm39) |
D787G |
probably damaging |
Het |
Dnah7b |
A |
G |
1: 46,148,472 (GRCm39) |
I283V |
probably null |
Het |
Ebf2 |
A |
G |
14: 67,472,650 (GRCm39) |
M23V |
probably benign |
Het |
Fbxw11 |
T |
C |
11: 32,689,191 (GRCm39) |
V438A |
possibly damaging |
Het |
Fcrla |
G |
A |
1: 170,745,738 (GRCm39) |
T348M |
possibly damaging |
Het |
Gpr179 |
A |
T |
11: 97,227,483 (GRCm39) |
H1557Q |
probably benign |
Het |
Grep1 |
C |
T |
17: 23,930,817 (GRCm39) |
|
probably benign |
Het |
Hfm1 |
A |
G |
5: 107,052,629 (GRCm39) |
S285P |
probably damaging |
Het |
Hs3st5 |
T |
C |
10: 36,704,742 (GRCm39) |
V15A |
possibly damaging |
Het |
Hyal5 |
C |
T |
6: 24,891,250 (GRCm39) |
H355Y |
probably damaging |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Map4k3 |
T |
A |
17: 80,917,216 (GRCm39) |
N587Y |
probably damaging |
Het |
Mcm3ap |
T |
A |
10: 76,332,316 (GRCm39) |
L1211* |
probably null |
Het |
Mcmdc2 |
A |
G |
1: 10,007,309 (GRCm39) |
I620V |
probably benign |
Het |
Mical2 |
C |
T |
7: 111,981,444 (GRCm39) |
H539Y |
probably benign |
Het |
Myo9a |
T |
C |
9: 59,791,803 (GRCm39) |
L1802P |
probably damaging |
Het |
Neto2 |
T |
A |
8: 86,397,112 (GRCm39) |
I47F |
probably benign |
Het |
Oog3 |
G |
A |
4: 143,885,815 (GRCm39) |
T261I |
probably benign |
Het |
Or5b95 |
A |
G |
19: 12,657,799 (GRCm39) |
E109G |
probably damaging |
Het |
Pdilt |
A |
G |
7: 119,086,158 (GRCm39) |
L519P |
probably benign |
Het |
Pnpla6 |
A |
T |
8: 3,585,829 (GRCm39) |
M844L |
probably benign |
Het |
Polk |
C |
T |
13: 96,631,984 (GRCm39) |
G250R |
probably damaging |
Het |
Rasal2 |
A |
G |
1: 156,985,231 (GRCm39) |
S839P |
probably damaging |
Het |
Siae |
T |
C |
9: 37,528,119 (GRCm39) |
Y31H |
probably damaging |
Het |
Slc27a2 |
T |
C |
2: 126,422,912 (GRCm39) |
V379A |
probably damaging |
Het |
Snx9 |
C |
T |
17: 5,970,913 (GRCm39) |
T418M |
probably damaging |
Het |
Spata31e2 |
A |
C |
1: 26,724,272 (GRCm39) |
S303A |
probably damaging |
Het |
Srp72 |
A |
G |
5: 77,132,185 (GRCm39) |
T258A |
probably benign |
Het |
Tango6 |
T |
A |
8: 107,576,921 (GRCm39) |
D1058E |
probably damaging |
Het |
Tecpr1 |
T |
A |
5: 144,144,234 (GRCm39) |
Y656F |
probably damaging |
Het |
Tnik |
T |
A |
3: 28,715,890 (GRCm39) |
I1168K |
probably damaging |
Het |
Togaram1 |
A |
G |
12: 65,014,510 (GRCm39) |
E587G |
probably damaging |
Het |
Tyw1 |
A |
C |
5: 130,303,547 (GRCm39) |
D305A |
probably damaging |
Het |
Vmn1r19 |
T |
A |
6: 57,381,475 (GRCm39) |
Y9* |
probably null |
Het |
Zkscan3 |
A |
T |
13: 21,578,982 (GRCm39) |
V142E |
probably damaging |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TAGTTGGCTGCCCATTAGTCAG -3'
(R):5'- CTTTGTGGCAAGCATCCTG -3'
Sequencing Primer
(F):5'- GCTGCCCATTAGTCAGTATGATG -3'
(R):5'- ATCCTGCTGAACGGTCTGG -3'
|
Posted On |
2016-10-06 |