Incidental Mutation 'IGL02309:Gpr87'
ID 287726
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 # IGL02309
Quality Score
Status
Chromosome 3
Chromosomal Location 59086344-59102525 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 59086975 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 178 (I178F)
Ref Sequence ENSEMBL: ENSMUSP00000059272 (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 possibly damaging
Transcript: ENSMUST00000056898
AA Change: I178F

PolyPhen 2 Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000059272
Gene: ENSMUSG00000051431
AA Change: I178F

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 possibly damaging
Transcript: ENSMUST00000200095
AA Change: I177F

PolyPhen 2 Score 0.590 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000143683
Gene: ENSMUSG00000051431
AA Change: I177F

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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 A G 9: 44,193,125 (GRCm39) F111S probably benign Het
Afg1l C A 10: 42,330,374 (GRCm39) V98F possibly damaging Het
Agk T A 6: 40,353,210 (GRCm39) D191E possibly damaging Het
Akap5 A G 12: 76,375,629 (GRCm39) K354E possibly damaging Het
Aplp2 A T 9: 31,078,979 (GRCm39) M323K possibly damaging Het
Arhgap23 T C 11: 97,356,827 (GRCm39) probably benign Het
Asl A G 5: 130,048,622 (GRCm39) Y30H probably damaging Het
Asxl3 T A 18: 22,655,510 (GRCm39) H1173Q probably benign Het
Celsr2 C T 3: 108,303,327 (GRCm39) R2472H probably damaging Het
Clip1 T A 5: 123,755,763 (GRCm39) H950L probably damaging Het
Cx3cl1 A T 8: 95,506,660 (GRCm39) T222S probably benign Het
Cyp4a14 T A 4: 115,348,829 (GRCm39) N273Y probably damaging Het
Ddx52 T A 11: 83,839,304 (GRCm39) S214T probably damaging Het
Dennd2d T A 3: 106,402,284 (GRCm39) M318K probably benign Het
Dock3 A T 9: 106,790,351 (GRCm39) D1E probably damaging Het
Farp1 C T 14: 121,480,928 (GRCm39) T443I probably benign Het
Gm2381 C T 7: 42,472,033 (GRCm39) probably benign Het
Grin2b C T 6: 135,713,470 (GRCm39) E804K probably damaging Het
Gtf2h1 T C 7: 46,465,812 (GRCm39) L421P probably damaging Het
Haghl T G 17: 26,003,638 (GRCm39) H56P probably damaging Het
Heatr3 T C 8: 88,893,700 (GRCm39) L489P probably damaging Het
Ighv6-6 A T 12: 114,398,534 (GRCm39) H77Q probably benign Het
Kdm2b A G 5: 123,085,883 (GRCm39) S243P probably damaging Het
Lamc3 T C 2: 31,804,616 (GRCm39) probably benign Het
Lgr4 T C 2: 109,842,880 (GRCm39) probably benign Het
Lhx3 T C 2: 26,091,385 (GRCm39) Q308R probably benign Het
Lonp2 G A 8: 87,361,491 (GRCm39) E223K probably damaging Het
Lta4h T C 10: 93,310,352 (GRCm39) F407L probably damaging Het
Mndal C T 1: 173,702,021 (GRCm39) G94R probably damaging Het
Nrxn3 A G 12: 89,943,175 (GRCm39) N101S probably damaging Het
Or14c41 T C 7: 86,234,705 (GRCm39) V74A possibly damaging Het
Or51af1 A T 7: 103,141,206 (GRCm39) I293K probably damaging Het
Or8b48 C T 9: 38,492,809 (GRCm39) P79S probably damaging Het
Or8b48 A G 9: 38,492,729 (GRCm39) N52S probably damaging Het
Or8d23 A G 9: 38,842,348 (GRCm39) N294D probably damaging Het
Pknox1 T G 17: 31,809,683 (GRCm39) F96V probably benign Het
Psg25 T G 7: 18,260,349 (GRCm39) Q183P probably damaging Het
Ptgs2 A G 1: 149,981,307 (GRCm39) Y530C probably damaging Het
Sema3e T A 5: 14,274,404 (GRCm39) D218E probably damaging Het
Shank1 G A 7: 43,962,266 (GRCm39) G46R unknown Het
Sidt1 T C 16: 44,075,343 (GRCm39) I672V probably benign Het
Skic3 A G 13: 76,275,166 (GRCm39) T238A possibly damaging Het
Slco1b2 T A 6: 141,618,007 (GRCm39) S486T probably damaging Het
Smchd1 T C 17: 71,750,898 (GRCm39) H340R probably benign Het
Smoc2 C A 17: 14,595,789 (GRCm39) probably benign Het
Snapc1 A G 12: 74,014,801 (GRCm39) Y102C probably damaging Het
Spo11 A G 2: 172,821,744 (GRCm39) R20G probably damaging Het
Tlr1 A T 5: 65,083,290 (GRCm39) L429* probably null Het
Tmem229b-ps T C 10: 53,351,466 (GRCm39) noncoding transcript Het
Trim12c T A 7: 103,994,163 (GRCm39) E230D possibly damaging Het
Ttc17 G T 2: 94,173,006 (GRCm39) N796K probably benign Het
Ttn A G 2: 76,709,443 (GRCm39) probably benign Het
Ublcp1 A T 11: 44,349,155 (GRCm39) probably benign Het
Usf3 C T 16: 44,021,026 (GRCm39) T11M probably benign Het
Vmn2r115 T A 17: 23,564,113 (GRCm39) M95K probably benign Het
Wapl A G 14: 34,466,820 (GRCm39) T1160A probably damaging Het
Other mutations in Gpr87
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00496:Gpr87 APN 3 59,087,211 (GRCm39) missense probably damaging 1.00
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 2015-04-16