Incidental Mutation 'R4029:Gpr68'
ID 313135
Institutional Source Beutler Lab
Gene Symbol Gpr68
Ensembl Gene ENSMUSG00000047415
Gene Name G protein-coupled receptor 68
Synonyms OGR1
MMRRC Submission 040959-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4029 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 100842941-100874457 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100845475 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 23 (L23P)
Ref Sequence ENSEMBL: ENSMUSP00000105693 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053668] [ENSMUST00000110065] [ENSMUST00000110066] [ENSMUST00000110070]
AlphaFold Q8BFQ3
Predicted Effect probably damaging
Transcript: ENSMUST00000053668
AA Change: L23P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000057510
Gene: ENSMUSG00000047415
AA Change: L23P

DomainStartEndE-ValueType
low complexity region 26 34 N/A INTRINSIC
Pfam:7tm_1 38 286 2.3e-41 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110065
AA Change: L23P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105692
Gene: ENSMUSG00000047415
AA Change: L23P

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srx 29 162 3e-6 PFAM
Pfam:7tm_1 38 286 1.8e-48 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110066
AA Change: L23P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105693
Gene: ENSMUSG00000047415
AA Change: L23P

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135684
Meta Mutation Damage Score 0.7462 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency 100% (31/31)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 A G 7: 119,293,008 (GRCm39) K46R probably benign Het
Ank A G 15: 27,544,343 (GRCm39) N35D probably damaging Het
Atp9a A T 2: 168,531,245 (GRCm39) I174N probably damaging Het
Bfsp1 G A 2: 143,673,749 (GRCm39) probably benign Het
Cenpq T C 17: 41,238,140 (GRCm39) T125A probably damaging Het
Dcun1d4 A G 5: 73,691,980 (GRCm39) D89G probably damaging Het
Dip2b A G 15: 100,084,053 (GRCm39) Y892C probably damaging Het
Dmrt2 T G 19: 25,655,498 (GRCm39) S366A probably damaging Het
Exoc7 C T 11: 116,197,814 (GRCm39) probably benign Het
Gabra4 G T 5: 71,729,532 (GRCm39) T390K probably benign Het
Krt17 T A 11: 100,148,349 (GRCm39) N364I probably damaging Het
Lefty1 T C 1: 180,765,346 (GRCm39) S305P probably benign Het
Ly6g6d T A 17: 35,290,636 (GRCm39) Q98L probably benign Het
Muc6 G A 7: 141,218,313 (GRCm39) S2120F possibly damaging Het
Nck2 T C 1: 43,593,251 (GRCm39) F153L probably benign Het
Niban1 G A 1: 151,571,441 (GRCm39) V239I probably benign Het
Nme4 T C 17: 26,313,196 (GRCm39) probably null Het
Nup35 A G 2: 80,483,318 (GRCm39) D172G probably benign Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Oog4 A T 4: 143,166,770 (GRCm39) N11K probably benign Het
Phlpp1 T A 1: 106,320,279 (GRCm39) S1425T probably damaging Het
Pkd1l3 T A 8: 110,350,603 (GRCm39) S483T possibly damaging Het
Pld2 A G 11: 70,445,731 (GRCm39) N655S probably damaging Het
Pramel28 T A 4: 143,692,354 (GRCm39) T216S probably benign Het
Psmd2 G A 16: 20,481,955 (GRCm39) G896D probably damaging Het
Rcn1 G T 2: 105,229,395 (GRCm39) Y52* probably null Het
Reck T C 4: 43,922,931 (GRCm39) I402T probably damaging Het
Shisal2a G T 4: 108,240,412 (GRCm39) C43* probably null Het
Ston2 T C 12: 91,615,037 (GRCm39) Q457R possibly damaging Het
Syt10 T C 15: 89,698,741 (GRCm39) E201G probably benign Het
Ube4a G A 9: 44,861,198 (GRCm39) probably benign Het
Wdr49 C A 3: 75,230,972 (GRCm39) L563F probably benign 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
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
R7217:Gpr68 UTSW 12 100,845,058 (GRCm39) missense possibly damaging 0.91
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'- TAGAGGAGGATGCCACACAC -3'
(R):5'- TGATGCCTAGATCCTGATACATTTG -3'

Sequencing Primer
(F):5'- ATAGGTCACCATGGGACCAGTC -3'
(R):5'- AGATCCTGATACATTTGCATCACC -3'
Posted On 2015-04-30