Incidental Mutation 'R4490:Gpr55'
ID 330660
Institutional Source Beutler Lab
Gene Symbol Gpr55
Ensembl Gene ENSMUSG00000049608
Gene Name G protein-coupled receptor 55
Synonyms CTFL, LOC227326
MMRRC Submission 041746-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4490 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 85866039-85888729 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 85869540 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 14 (V14M)
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: V14M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000084196
Gene: ENSMUSG00000049608
AA Change: V14M

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 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 100% (45/45)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl2 T C 1: 156,461,349 (GRCm39) V417A probably damaging Het
Adgrb2 T C 4: 129,906,121 (GRCm39) V881A possibly damaging Het
Arl5c G A 11: 97,886,662 (GRCm39) R10* probably null Het
Atad1 A G 19: 32,673,197 (GRCm39) C229R probably benign Het
Atp6v0a2 T C 5: 124,784,674 (GRCm39) V319A probably damaging Het
Cage1 A G 13: 38,207,393 (GRCm39) S257P possibly damaging Het
Ccndbp1 A G 2: 120,842,876 (GRCm39) D179G probably damaging Het
Cngb3 T C 4: 19,415,684 (GRCm39) I398T probably benign Het
Crmp1 A G 5: 37,433,675 (GRCm39) D178G probably damaging Het
Csmd3 C T 15: 48,177,429 (GRCm39) V370I possibly damaging Het
Dapk1 A G 13: 60,865,942 (GRCm39) T180A probably benign Het
Dmtf1 A G 5: 9,190,379 (GRCm39) probably benign Het
Dnah12 T C 14: 26,455,758 (GRCm39) L827S possibly damaging Het
F5 T C 1: 164,044,964 (GRCm39) V2084A probably benign Het
Fan1 A T 7: 64,018,928 (GRCm39) S476T possibly damaging Het
Far2 T C 6: 148,074,907 (GRCm39) L380P possibly damaging Het
Gbp2 A G 3: 142,329,525 (GRCm39) N24S probably benign Het
Gm14325 T C 2: 177,474,776 (GRCm39) H101R possibly damaging Het
Herc6 A T 6: 57,631,480 (GRCm39) Y724F probably damaging Het
Impg1 T A 9: 80,301,341 (GRCm39) Q195L probably damaging Het
Inf2 T C 12: 112,566,638 (GRCm39) F68L probably damaging Het
Kcnh8 T C 17: 53,268,905 (GRCm39) probably null Het
Klb A G 5: 65,533,137 (GRCm39) N482S probably benign Het
Kpnb1 A G 11: 97,062,424 (GRCm39) V447A probably benign Het
Nckap5l G A 15: 99,324,011 (GRCm39) P831S probably benign Het
Ncor2 A G 5: 125,113,879 (GRCm39) probably null Het
Or4b1d A T 2: 89,969,261 (GRCm39) V74D probably damaging Het
Pgm3 T C 9: 86,443,893 (GRCm39) Y337C probably damaging Het
Prdm1 G T 10: 44,322,903 (GRCm39) Y197* probably null Het
Prdm4 A T 10: 85,736,763 (GRCm39) C626S probably damaging Het
Prex2 T A 1: 11,232,487 (GRCm39) S851R probably benign Het
Ranbp6 A G 19: 29,787,733 (GRCm39) L873P probably damaging Het
Rin2 A G 2: 145,664,194 (GRCm39) T23A possibly damaging Het
Rxra G T 2: 27,631,207 (GRCm39) R118L probably damaging Het
Spice1 T C 16: 44,202,476 (GRCm39) L750P probably damaging Het
Trpm1 C T 7: 63,858,660 (GRCm39) Q228* probably null Het
Tsc1 A G 2: 28,560,937 (GRCm39) D265G probably damaging Het
Usp29 T C 7: 6,964,949 (GRCm39) I264T possibly damaging Het
Vmn2r26 T C 6: 124,027,697 (GRCm39) L479P possibly damaging Het
Zfp9 A G 6: 118,442,273 (GRCm39) S130P probably benign 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
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
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'- CATGCTGATGAAGTAGAGGCAC -3'
(R):5'- TCTGTGTCTACTGCTTGCAG -3'

Sequencing Primer
(F):5'- TGGCAGGACCATCTTGAATG -3'
(R):5'- CTTGCAGTACATTAAGCATGGGTC -3'
Posted On 2015-07-21