Incidental Mutation 'IGL03296:Gpr55'
ID 416084
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpr55
Ensembl Gene ENSMUSG00000049608
Gene Name G protein-coupled receptor 55
Synonyms CTFL, LOC227326
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03296
Quality Score
Status
Chromosome 1
Chromosomal Location 85866039-85888729 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85868753 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 276 (L276S)
Ref Sequence ENSEMBL: ENSMUSP00000084196 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086975] [ENSMUST00000129392]
AlphaFold Q3UJF0
Predicted Effect probably damaging
Transcript: ENSMUST00000086975
AA Change: L276S

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000084196
Gene: ENSMUSG00000049608
AA Change: L276S

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srx 27 183 9.7e-9 PFAM
Pfam:7tm_1 37 296 2.7e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129392
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190367
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 belongs to the G-protein-coupled receptor superfamily. The encoded integral membrane protein is a likely cannabinoid receptor. It may be involved in several physiological and pathological processes by activating a variety of signal transduction pathways. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased bone volume due to impaired osteoclast function in male mice. Female mice exhibit a milder phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf1 T C 17: 43,632,044 (GRCm39) probably benign Het
Arhgef26 A G 3: 62,330,926 (GRCm39) T547A probably damaging Het
Cdc14a T A 3: 116,090,807 (GRCm39) H375L probably benign Het
Ddx43 T C 9: 78,306,380 (GRCm39) probably null Het
Dennd6a T C 14: 26,338,115 (GRCm39) probably null Het
Dock4 A T 12: 40,783,256 (GRCm39) E730V possibly damaging Het
Grid1 T C 14: 35,302,524 (GRCm39) F930L possibly damaging Het
Inf2 C T 12: 112,570,642 (GRCm39) Q394* probably null Het
Ints11 T C 4: 155,969,780 (GRCm39) probably null Het
Kcnd2 T C 6: 21,714,208 (GRCm39) V397A probably damaging Het
Lmntd1 A G 6: 145,359,203 (GRCm39) F316L probably benign Het
Loxl4 A T 19: 42,587,262 (GRCm39) probably benign Het
Lrrc37a C T 11: 103,388,499 (GRCm39) E2309K unknown Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Mindy4 T C 6: 55,274,738 (GRCm39) probably null Het
Mybpc2 A T 7: 44,156,308 (GRCm39) I835N probably damaging Het
Myo5a T C 9: 75,023,484 (GRCm39) I15T probably damaging Het
Nfkb2 A T 19: 46,298,367 (GRCm39) D557V probably damaging Het
Or11g27 A T 14: 50,771,402 (GRCm39) I178L possibly damaging Het
Pdk3 T C X: 92,875,503 (GRCm39) Y19C probably damaging Het
Pdpr G T 8: 111,841,430 (GRCm39) V221F probably damaging Het
Rab6a T C 7: 100,283,931 (GRCm39) Y128H probably benign Het
Rars1 A T 11: 35,707,523 (GRCm39) Y429* probably null Het
Rsl24d1 T C 9: 73,025,229 (GRCm39) probably null Het
Slc7a9 T C 7: 35,151,852 (GRCm39) F49S probably damaging Het
St14 C T 9: 31,020,008 (GRCm39) E34K probably damaging Het
Tcp10b A G 17: 13,292,443 (GRCm39) T289A probably damaging Het
Tenm2 T C 11: 35,942,852 (GRCm39) probably null Het
Tshz3 A T 7: 36,470,761 (GRCm39) T917S probably damaging Het
Vrtn T A 12: 84,695,622 (GRCm39) I124N probably damaging Het
Vwa8 A G 14: 79,420,540 (GRCm39) E1747G probably damaging Het
Wdr33 A T 18: 31,960,444 (GRCm39) Q36L probably benign Het
Xpo5 C T 17: 46,532,320 (GRCm39) R452* probably null Het
Zdhhc8 A T 16: 18,044,587 (GRCm39) L311Q possibly damaging Het
Other mutations in Gpr55
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01331:Gpr55 APN 1 85,868,915 (GRCm39) unclassified probably benign
IGL02087:Gpr55 APN 1 85,868,969 (GRCm39) missense probably damaging 1.00
R0119:Gpr55 UTSW 1 85,869,146 (GRCm39) nonsense probably null
R0166:Gpr55 UTSW 1 85,868,858 (GRCm39) missense probably benign 0.01
R0529:Gpr55 UTSW 1 85,869,225 (GRCm39) missense probably benign 0.00
R0664:Gpr55 UTSW 1 85,868,739 (GRCm39) missense probably benign 0.30
R1670:Gpr55 UTSW 1 85,869,137 (GRCm39) missense possibly damaging 0.91
R4490:Gpr55 UTSW 1 85,869,540 (GRCm39) missense probably damaging 1.00
R7719:Gpr55 UTSW 1 85,869,059 (GRCm39) missense probably benign 0.00
R8049:Gpr55 UTSW 1 85,869,419 (GRCm39) missense probably benign 0.00
R8371:Gpr55 UTSW 1 85,868,849 (GRCm39) missense probably damaging 1.00
R9017:Gpr55 UTSW 1 85,868,624 (GRCm39) missense probably benign 0.00
R9480:Gpr55 UTSW 1 85,868,977 (GRCm39) nonsense probably null
Posted On 2016-08-02