Incidental Mutation 'IGL02614:Gpr87'
ID |
300606 |
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 # |
IGL02614
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
59086344-59102525 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 59086738 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 256
(V256L)
|
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: V257L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000059272 Gene: ENSMUSG00000051431 AA Change: V257L
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: V256L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000143683 Gene: ENSMUSG00000051431 AA Change: V256L
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
A |
T |
5: 77,044,215 (GRCm39) |
|
probably benign |
Het |
Acadsb |
A |
G |
7: 131,026,357 (GRCm39) |
T67A |
probably benign |
Het |
Aff2 |
A |
G |
X: 68,907,693 (GRCm39) |
D1225G |
possibly damaging |
Het |
Atp2a2 |
T |
C |
5: 122,627,366 (GRCm39) |
D133G |
probably benign |
Het |
Cacul1 |
A |
T |
19: 60,551,661 (GRCm39) |
M187K |
possibly damaging |
Het |
Celf4 |
A |
G |
18: 25,637,207 (GRCm39) |
Y263H |
probably damaging |
Het |
Cmbl |
G |
T |
15: 31,589,830 (GRCm39) |
V187F |
probably damaging |
Het |
Epha1 |
T |
C |
6: 42,337,491 (GRCm39) |
N896S |
probably benign |
Het |
Fbxo27 |
G |
A |
7: 28,396,201 (GRCm39) |
|
probably null |
Het |
Galnt16 |
T |
C |
12: 80,623,337 (GRCm39) |
S166P |
probably damaging |
Het |
Gm1110 |
A |
G |
9: 26,832,010 (GRCm39) |
V47A |
probably benign |
Het |
Gmnn |
A |
G |
13: 24,944,137 (GRCm39) |
|
probably benign |
Het |
Gpbp1 |
T |
C |
13: 111,573,007 (GRCm39) |
I382V |
probably benign |
Het |
Il4ra |
C |
A |
7: 125,174,962 (GRCm39) |
S390* |
probably null |
Het |
Itprid1 |
A |
T |
6: 55,945,262 (GRCm39) |
D661V |
probably damaging |
Het |
Lrrc47 |
T |
C |
4: 154,103,392 (GRCm39) |
|
probably null |
Het |
Lrriq4 |
A |
T |
3: 30,709,788 (GRCm39) |
L362F |
probably damaging |
Het |
Lrrtm4 |
A |
T |
6: 79,998,827 (GRCm39) |
N79Y |
probably benign |
Het |
Nr1i2 |
T |
A |
16: 38,074,118 (GRCm39) |
H165L |
probably damaging |
Het |
Or10g1b |
T |
C |
14: 52,627,627 (GRCm39) |
E201G |
probably damaging |
Het |
Phf11a |
T |
A |
14: 59,516,817 (GRCm39) |
T214S |
possibly damaging |
Het |
Prr14l |
A |
T |
5: 32,987,887 (GRCm39) |
I536K |
possibly damaging |
Het |
Rpn1 |
T |
A |
6: 88,079,087 (GRCm39) |
I510N |
probably benign |
Het |
Sall4 |
A |
T |
2: 168,597,805 (GRCm39) |
L20Q |
probably null |
Het |
Sema3f |
T |
C |
9: 107,559,710 (GRCm39) |
E759G |
probably benign |
Het |
Slc5a1 |
T |
C |
5: 33,311,945 (GRCm39) |
S446P |
probably benign |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Tcn2 |
C |
A |
11: 3,876,158 (GRCm39) |
S90I |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,542,331 (GRCm39) |
T31806A |
possibly damaging |
Het |
Ubr1 |
T |
C |
2: 120,701,460 (GRCm39) |
|
probably benign |
Het |
Vac14 |
T |
G |
8: 111,361,750 (GRCm39) |
L214R |
probably damaging |
Het |
Vmn2r58 |
T |
C |
7: 41,486,553 (GRCm39) |
K781E |
probably damaging |
Het |
Vmn2r92 |
T |
C |
17: 18,387,503 (GRCm39) |
|
probably benign |
Het |
Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
Zfp609 |
G |
A |
9: 65,610,072 (GRCm39) |
P964S |
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 |
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 |
2015-04-16 |