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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:7tm_1 60 315 1.4e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164225
SMART Domains Protein: ENSMUSP00000127038
Gene: ENSMUSG00000056476

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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