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 |
Incidental Mutation