Incidental Mutation 'IGL00496:Gpr87'
ID |
12647 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gpr87
|
Ensembl Gene |
ENSMUSG00000051431 |
Gene Name |
G protein-coupled receptor 87 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00496
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
59086344-59102525 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 59087211 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Lysine
at position 98
(I98K)
|
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: I99K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000059272 Gene: ENSMUSG00000051431 AA Change: I99K
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: I98K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000143683 Gene: ENSMUSG00000051431 AA Change: I98K
Domain | Start | End | E-Value | Type |
Pfam:7tm_1
|
59 |
314 |
3.5e-37 |
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 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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933434E20Rik |
G |
A |
3: 89,960,400 (GRCm39) |
V14M |
possibly damaging |
Het |
Adgrg6 |
C |
A |
10: 14,326,322 (GRCm39) |
|
probably null |
Het |
Ankmy1 |
A |
G |
1: 92,813,988 (GRCm39) |
L397P |
probably damaging |
Het |
Atp6v1c1 |
A |
G |
15: 38,687,100 (GRCm39) |
K232E |
probably damaging |
Het |
Cnfn |
G |
T |
7: 25,067,385 (GRCm39) |
|
probably benign |
Het |
Copb2 |
A |
G |
9: 98,452,371 (GRCm39) |
T52A |
probably benign |
Het |
Daw1 |
A |
C |
1: 83,174,957 (GRCm39) |
L152F |
probably damaging |
Het |
Il17a |
G |
A |
1: 20,802,507 (GRCm39) |
R72H |
probably damaging |
Het |
Lmtk2 |
A |
G |
5: 144,111,512 (GRCm39) |
Q744R |
probably benign |
Het |
Micall1 |
G |
A |
15: 78,999,221 (GRCm39) |
|
probably benign |
Het |
Micall2 |
T |
C |
5: 139,702,083 (GRCm39) |
T387A |
probably benign |
Het |
Nckap1 |
T |
A |
2: 80,336,546 (GRCm39) |
I1057F |
possibly damaging |
Het |
Nr1h3 |
T |
C |
2: 91,020,544 (GRCm39) |
D263G |
probably damaging |
Het |
Nrip1 |
A |
T |
16: 76,090,591 (GRCm39) |
V322E |
possibly damaging |
Het |
Pck1 |
T |
C |
2: 172,995,911 (GRCm39) |
|
probably null |
Het |
Ppp3r2 |
A |
G |
4: 49,681,773 (GRCm39) |
I59T |
possibly damaging |
Het |
Pradc1 |
A |
G |
6: 85,424,948 (GRCm39) |
|
probably null |
Het |
Psmd14 |
A |
G |
2: 61,591,026 (GRCm39) |
Y32C |
probably damaging |
Het |
Rrp12 |
A |
C |
19: 41,866,466 (GRCm39) |
|
probably null |
Het |
Scaf8 |
A |
T |
17: 3,221,409 (GRCm39) |
I299F |
unknown |
Het |
Selenoo |
A |
G |
15: 88,979,875 (GRCm39) |
D341G |
probably damaging |
Het |
Slc1a6 |
C |
A |
10: 78,629,142 (GRCm39) |
N186K |
probably damaging |
Het |
Smarcc2 |
T |
A |
10: 128,298,924 (GRCm39) |
S102R |
probably damaging |
Het |
Stambpl1 |
T |
A |
19: 34,217,430 (GRCm39) |
V423E |
probably damaging |
Het |
Svep1 |
A |
C |
4: 58,069,001 (GRCm39) |
C2928W |
possibly damaging |
Het |
Tmed9 |
T |
C |
13: 55,741,334 (GRCm39) |
Y43H |
probably benign |
Het |
Ttn |
T |
C |
2: 76,571,091 (GRCm39) |
T24855A |
possibly damaging |
Het |
Usp7 |
A |
G |
16: 8,512,977 (GRCm39) |
V795A |
probably damaging |
Het |
Wdr17 |
A |
C |
8: 55,112,614 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Gpr87 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2012-12-06 |