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) question?
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

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: V257L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000059272
Gene: ENSMUSG00000051431
AA Change: V257L

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: V256L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143683
Gene: ENSMUSG00000051431
AA Change: V256L

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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