Incidental Mutation 'R0529:Gpr55'
ID 49027
Institutional Source Beutler Lab
Gene Symbol Gpr55
Ensembl Gene ENSMUSG00000049608
Gene Name G protein-coupled receptor 55
Synonyms CTFL, LOC227326
MMRRC Submission 038721-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0529 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 85866039-85888729 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85869225 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 119 (F119L)
Ref Sequence ENSEMBL: ENSMUSP00000084196 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086975] [ENSMUST00000129392]
AlphaFold Q3UJF0
Predicted Effect probably benign
Transcript: ENSMUST00000086975
AA Change: F119L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000084196
Gene: ENSMUSG00000049608
AA Change: F119L

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
Meta Mutation Damage Score 0.2633 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.3%
Validation Efficiency 97% (58/60)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik G A 17: 9,211,228 (GRCm39) V126I probably benign Het
Aasdh A C 5: 77,024,114 (GRCm39) Y179* probably null Het
Afp A G 5: 90,652,254 (GRCm39) Y415C probably damaging Het
Aldh5a1 G T 13: 25,097,856 (GRCm39) T393K probably benign Het
Arhgef26 T C 3: 62,247,146 (GRCm39) S77P probably benign Het
Axl A G 7: 25,486,712 (GRCm39) probably benign Het
Card10 A G 15: 78,664,675 (GRCm39) probably null Het
Ccdc71l G A 12: 32,429,251 (GRCm39) S90N probably damaging Het
Cebpa A T 7: 34,819,624 (GRCm39) T261S probably benign Het
Cnmd T C 14: 79,879,481 (GRCm39) E219G probably benign Het
Cntln T A 4: 84,986,062 (GRCm39) L1010H probably damaging Het
Cul9 A G 17: 46,831,394 (GRCm39) probably benign Het
Cyld A G 8: 89,456,387 (GRCm39) E479G probably benign Het
Dmp1 A G 5: 104,360,092 (GRCm39) E256G probably benign Het
Dnmt1 T C 9: 20,822,846 (GRCm39) D1140G probably damaging Het
Drd2 A C 9: 49,318,374 (GRCm39) M439L probably benign Het
Drd3 G A 16: 43,643,077 (GRCm39) V438M probably damaging Het
Dyrk3 A G 1: 131,057,858 (GRCm39) I70T probably benign Het
Fbxo38 T C 18: 62,639,057 (GRCm39) K1082E probably damaging Het
Fbxw10 A C 11: 62,750,671 (GRCm39) D428A probably damaging Het
Fmn1 T A 2: 113,538,198 (GRCm39) probably benign Het
Fmnl2 A T 2: 52,932,377 (GRCm39) I119F probably damaging Het
Frmd4a A G 2: 4,610,834 (GRCm39) T995A probably damaging Het
Gda T A 19: 21,402,901 (GRCm39) I82F probably damaging Het
Gpatch4 T A 3: 87,958,583 (GRCm39) H22Q probably damaging Het
Gtf2i A T 5: 134,290,723 (GRCm39) L425* probably null Het
Knstrn T A 2: 118,661,461 (GRCm39) probably benign Het
Lipo2 T A 19: 33,724,335 (GRCm39) I144L probably benign Het
Lrp1 T C 10: 127,377,463 (GRCm39) probably null Het
Mtmr14 T C 6: 113,243,213 (GRCm39) probably benign Het
Nsmce4a A T 7: 130,135,536 (GRCm39) S345R probably benign Het
Oacyl T A 18: 65,875,290 (GRCm39) V385D probably damaging Het
Or6k8-ps1 G A 1: 173,979,696 (GRCm39) A205T probably benign Het
Or8b52 A T 9: 38,576,808 (GRCm39) C111S probably benign Het
Phlpp2 T C 8: 110,603,603 (GRCm39) S55P probably benign Het
Pkhd1l1 T A 15: 44,390,150 (GRCm39) V1422E possibly damaging Het
Plcd3 T G 11: 102,971,013 (GRCm39) H181P probably benign Het
Psmc5 G A 11: 106,151,990 (GRCm39) probably null Het
Psmd11 T C 11: 80,361,515 (GRCm39) probably benign Het
Rab39 T C 9: 53,598,016 (GRCm39) Y83C probably damaging Het
Ric8a A G 7: 140,440,806 (GRCm39) E93G probably damaging Het
Rtp3 T C 9: 110,816,152 (GRCm39) E133G possibly damaging Het
Serpina1e A C 12: 103,915,363 (GRCm39) L281R probably damaging Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Tent5c A G 3: 100,379,686 (GRCm39) Y357H probably benign Het
Tmem63a A T 1: 180,788,659 (GRCm39) E332V probably benign Het
Tnk1 T C 11: 69,745,990 (GRCm39) T312A probably damaging Het
Traf3ip3 G T 1: 192,877,119 (GRCm39) probably benign Het
Trappc11 A G 8: 47,980,014 (GRCm39) V174A possibly damaging Het
Vmn1r174 G A 7: 23,453,622 (GRCm39) R96H probably benign Het
Vmn1r7 T A 6: 57,001,450 (GRCm39) Y270F possibly damaging Het
Vmn2r12 A G 5: 109,240,714 (GRCm39) V133A probably benign Het
Vmn2r18 T A 5: 151,485,988 (GRCm39) E502V probably damaging Het
Wipf3 C A 6: 54,462,348 (GRCm39) P186Q probably damaging Het
Yipf5 A T 18: 40,345,215 (GRCm39) M55K probably benign Het
Zbtb7a G A 10: 80,979,820 (GRCm39) V5M probably damaging Het
Zfy1 G T Y: 726,040 (GRCm39) S575Y probably 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
IGL03296:Gpr55 APN 1 85,868,753 (GRCm39) missense probably damaging 0.98
R0119:Gpr55 UTSW 1 85,869,146 (GRCm39) nonsense probably null
R0166:Gpr55 UTSW 1 85,868,858 (GRCm39) missense probably benign 0.01
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
Predicted Primers PCR Primer
(F):5'- TAGGAACAGAAGCCCATGATGCCC -3'
(R):5'- AGAGGAAGCTGGACTATATCGCCAC -3'

Sequencing Primer
(F):5'- GAAGACACTGGCACTCCAGG -3'
(R):5'- ACTTCTATCTACATGATCAACTTGGC -3'
Posted On 2013-06-12