Incidental Mutation 'R7217:Gpr68'
ID 561545
Institutional Source Beutler Lab
Gene Symbol Gpr68
Ensembl Gene ENSMUSG00000047415
Gene Name G protein-coupled receptor 68
Synonyms OGR1
MMRRC Submission 045289-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7217 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 100842941-100874457 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100845058 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 162 (V162A)
Ref Sequence ENSEMBL: ENSMUSP00000105692 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053668] [ENSMUST00000110065] [ENSMUST00000110066] [ENSMUST00000110070]
AlphaFold Q8BFQ3
Predicted Effect possibly damaging
Transcript: ENSMUST00000053668
AA Change: V162A

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000057510
Gene: ENSMUSG00000047415
AA Change: V162A

DomainStartEndE-ValueType
low complexity region 26 34 N/A INTRINSIC
Pfam:7tm_1 38 286 2.3e-41 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000110065
AA Change: V162A

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105692
Gene: ENSMUSG00000047415
AA Change: V162A

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srx 29 162 3e-6 PFAM
Pfam:7tm_1 38 286 1.8e-48 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000110066
AA Change: V162A

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105693
Gene: ENSMUSG00000047415
AA Change: V162A

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srx 29 162 3e-6 PFAM
Pfam:7tm_1 38 286 1.8e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110070
SMART Domains Protein: ENSMUSP00000105697
Gene: ENSMUSG00000021185

DomainStartEndE-ValueType
Pfam:DUF1445 115 257 2.8e-51 PFAM
Pfam:DUF4392 298 563 2.5e-87 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124957
SMART Domains Protein: ENSMUSP00000122512
Gene: ENSMUSG00000021185

DomainStartEndE-ValueType
Pfam:DUF4392 4 65 9.6e-17 PFAM
Meta Mutation Damage Score 0.0720 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 91% (40/44)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a G protein-coupled receptor for sphingosylphosphorylcholine. The encoded protein is a proton-sensing receptor, inactive at pH 7.8 but active at pH 6.8. Mutations in this gene are a cause of amelogenesis imperfecta. [provided by RefSeq, Feb 2017]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased osteoclastogenesis, abnormal pH-sensitive osteoclast survival, and background sensitive alterations in brown adipose tissue, monocytes, and macrophages. Mice homozygous for a different allele exhibit attenuated glucose-stimulated insulin secretion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik C A 5: 138,645,188 (GRCm39) H358N probably benign Het
Abcg3 A G 5: 105,087,094 (GRCm39) F543L possibly damaging Het
Asnsd1 T C 1: 53,387,352 (GRCm39) T92A probably damaging Het
Atg2a G T 19: 6,303,471 (GRCm39) probably null Het
Aven T A 2: 112,461,191 (GRCm39) N327K possibly damaging Het
Brd9 T C 13: 74,087,063 (GRCm39) V116A probably damaging Het
Car14 A G 3: 95,806,629 (GRCm39) S250P probably damaging Het
Ccdc138 T C 10: 58,345,422 (GRCm39) I138T probably benign Het
Cmya5 A G 13: 93,226,938 (GRCm39) Y2717H probably damaging Het
Eno1b C A 18: 48,180,746 (GRCm39) T308K probably damaging Het
Epha3 T C 16: 63,372,857 (GRCm39) T949A probably benign Het
Fcrl5 C T 3: 87,351,081 (GRCm39) T197M probably damaging Het
Foxp2 A T 6: 15,416,023 (GRCm39) Q664L unknown Het
Fsip2 A T 2: 82,819,412 (GRCm39) K5048N possibly damaging Het
Gcnt4 T C 13: 97,082,818 (GRCm39) L38P probably damaging Het
Grin3a A T 4: 49,770,741 (GRCm39) M677K possibly damaging Het
Grm7 A G 6: 111,335,785 (GRCm39) Y732C probably damaging Het
H2-T15 A C 17: 36,367,235 (GRCm39) M329R probably benign Het
Hoxb4 A G 11: 96,209,906 (GRCm39) E104G probably benign Het
Kat7 A G 11: 95,182,390 (GRCm39) S237P possibly damaging Het
Kif13b T C 14: 65,010,517 (GRCm39) V1272A probably damaging Het
Kif20a T A 18: 34,762,613 (GRCm39) H495Q probably benign Het
Lama1 A T 17: 68,071,668 (GRCm39) T852S Het
Mep1b T A 18: 21,226,600 (GRCm39) D487E probably benign Het
Mki67 T C 7: 135,305,911 (GRCm39) T656A probably damaging Het
Mlh3 A G 12: 85,313,481 (GRCm39) W902R probably benign Het
Muc16 A T 9: 18,555,372 (GRCm39) Y3640* probably null Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Pkd1l2 A G 8: 117,722,536 (GRCm39) I2424T probably benign Het
Prl8a2 A G 13: 27,534,998 (GRCm39) E91G possibly damaging Het
Prpf18 A G 2: 4,650,435 (GRCm39) V65A probably benign Het
Pxmp2 A G 5: 110,433,771 (GRCm39) V34A probably damaging Het
Ranbp2 T G 10: 58,287,839 (GRCm39) Y36D probably damaging Het
Rbm25 G A 12: 83,710,991 (GRCm39) R368Q unknown Het
Rims2 C A 15: 39,339,885 (GRCm39) L860M probably damaging Het
Rsf1 CGGC CGGCGGCGGGGGC 7: 97,229,139 (GRCm39) probably benign Het
Scn8a A T 15: 100,868,108 (GRCm39) M318L probably benign Het
Slc35b2 A G 17: 45,875,955 (GRCm39) T55A probably benign Het
Trnp1 T C 4: 133,225,416 (GRCm39) E118G possibly damaging Het
Ttll13 A C 7: 79,903,911 (GRCm39) K280Q probably damaging Het
Wdfy3 A T 5: 102,049,785 (GRCm39) H1680Q probably damaging Het
Zfp131 A G 13: 120,237,377 (GRCm39) I327T probably damaging Het
Zfp729b A G 13: 67,743,367 (GRCm39) V66A probably damaging Het
Other mutations in Gpr68
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02368:Gpr68 APN 12 100,845,026 (GRCm39) missense probably damaging 1.00
R0581:Gpr68 UTSW 12 100,844,815 (GRCm39) missense probably damaging 1.00
R1800:Gpr68 UTSW 12 100,845,167 (GRCm39) missense probably damaging 1.00
R1819:Gpr68 UTSW 12 100,844,662 (GRCm39) missense possibly damaging 0.55
R1875:Gpr68 UTSW 12 100,845,049 (GRCm39) missense probably damaging 1.00
R4029:Gpr68 UTSW 12 100,845,475 (GRCm39) missense probably damaging 1.00
R4030:Gpr68 UTSW 12 100,845,475 (GRCm39) missense probably damaging 1.00
R4431:Gpr68 UTSW 12 100,865,650 (GRCm39) unclassified probably benign
R5000:Gpr68 UTSW 12 100,844,596 (GRCm39) missense probably benign 0.04
R5770:Gpr68 UTSW 12 100,845,080 (GRCm39) missense probably benign 0.00
R6812:Gpr68 UTSW 12 100,844,670 (GRCm39) missense probably damaging 1.00
R7567:Gpr68 UTSW 12 100,844,623 (GRCm39) missense probably benign
R7814:Gpr68 UTSW 12 100,845,302 (GRCm39) missense probably damaging 0.99
R7869:Gpr68 UTSW 12 100,845,497 (GRCm39) missense probably benign 0.37
R7899:Gpr68 UTSW 12 100,844,707 (GRCm39) missense probably damaging 1.00
R8690:Gpr68 UTSW 12 100,845,292 (GRCm39) missense probably benign 0.25
X0018:Gpr68 UTSW 12 100,845,128 (GRCm39) missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- AAGATGACCACGGTGCTGAG -3'
(R):5'- ACATTTACATCAGCGTGGGC -3'

Sequencing Primer
(F):5'- AGCCGCTGAATCTGGTCCTTG -3'
(R):5'- CGTGGGCTTCCTCTGCTG -3'
Posted On 2019-06-26