Incidental Mutation 'IGL02340:Hcar1'
ID289045
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hcar1
Ensembl Gene ENSMUSG00000049241
Gene Namehydrocarboxylic acid receptor 1
SynonymsGpr81
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.095) question?
Stock #IGL02340
Quality Score
Status
Chromosome5
Chromosomal Location123876736-123880020 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 123879072 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 185 (H185Q)
Ref Sequence ENSEMBL: ENSMUSP00000129280 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164267]
Predicted Effect probably damaging
Transcript: ENSMUST00000164267
AA Change: H185Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129280
Gene: ENSMUSG00000049241
AA Change: H185Q

DomainStartEndE-ValueType
Pfam:7tm_1 40 286 1.4e-33 PFAM
low complexity region 306 317 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] G protein-coupled receptors (GPCRs, or GPRs), such as GPR81, contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins.[supplied by OMIM, Feb 2005]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit resistance to lactate-induced suppression of lipolysis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt2 T A 7: 27,629,399 I182N probably damaging Het
Alpk3 A G 7: 81,078,507 T462A probably benign Het
Amz1 A G 5: 140,752,259 R425G probably damaging Het
Aoc2 A G 11: 101,326,375 E428G probably damaging Het
Car4 C T 11: 84,965,767 P294S probably damaging Het
Chchd6 A T 6: 89,419,780 H216Q probably damaging Het
Chl1 A G 6: 103,698,125 Y591C probably damaging Het
Cln8 T C 8: 14,895,178 L164S probably damaging Het
Dscaml1 T C 9: 45,670,176 I431T possibly damaging Het
Fam234b T C 6: 135,231,661 L524P probably damaging Het
Fmo1 T C 1: 162,832,990 N410S probably benign Het
Ftsj3 G A 11: 106,253,146 R251* probably null Het
Greb1l A T 18: 10,515,200 D555V probably damaging Het
Kcnj12 G A 11: 61,069,493 V206I probably benign Het
Lamc3 G A 2: 31,918,457 G742S probably damaging Het
Lipg T C 18: 74,960,875 probably null Het
Ltbp2 A G 12: 84,792,955 probably null Het
Mcm3ap T G 10: 76,496,552 Y1234* probably null Het
Myh6 T A 14: 54,957,155 D719V possibly damaging Het
Myo9b A G 8: 71,291,045 N250S probably damaging Het
Notch2 G A 3: 98,147,336 W2438* probably null Het
Nphp1 G A 2: 127,780,067 Q47* probably null Het
Nptx2 T C 5: 144,556,246 L381P probably damaging Het
Nrxn3 A G 12: 90,204,628 N911S possibly damaging Het
Olfr1176 T C 2: 88,339,562 probably benign Het
Olfr418 A T 1: 173,270,405 I77F probably benign Het
P4ha1 T A 10: 59,352,201 F260Y probably benign Het
Pitpnm2 T C 5: 124,130,613 D504G probably damaging Het
Prss54 A G 8: 95,565,609 V114A probably benign Het
Ptprc G A 1: 138,071,219 T1031M probably damaging Het
Rtf2 T C 2: 172,468,591 probably benign Het
Ryr3 A G 2: 112,947,004 probably benign Het
Slc14a2 C T 18: 78,163,126 E492K probably damaging Het
Slc9a3r1 A G 11: 115,180,032 E270G probably benign Het
Stab1 G T 14: 31,140,410 N2322K probably damaging Het
Thsd7b A G 1: 130,159,632 N1162S probably benign Het
Tmprss11b T C 5: 86,662,231 I297V probably benign Het
Tnn T C 1: 160,145,205 N276D probably benign Het
Trhde A T 10: 114,592,213 probably benign Het
Vmn1r115 T A 7: 20,844,528 H153L possibly damaging Het
Vmn1r203 T A 13: 22,524,827 C259* probably null Het
Xpot T A 10: 121,615,204 E97V probably damaging Het
Zbtb2 T C 10: 4,368,712 D438G probably damaging Het
Other mutations in Hcar1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1860:Hcar1 UTSW 5 123879029 missense probably damaging 1.00
R1874:Hcar1 UTSW 5 123879265 missense probably damaging 1.00
R2262:Hcar1 UTSW 5 123878586 missense probably benign 0.00
R3981:Hcar1 UTSW 5 123878620 missense probably benign 0.03
R4851:Hcar1 UTSW 5 123878668 missense probably benign 0.00
R5034:Hcar1 UTSW 5 123879669 start gained probably benign
R6805:Hcar1 UTSW 5 123879130 missense probably benign 0.01
R7259:Hcar1 UTSW 5 123879212 missense possibly damaging 0.92
R7346:Hcar1 UTSW 5 123879630 start gained probably benign
R7410:Hcar1 UTSW 5 123879098 missense possibly damaging 0.82
Z1176:Hcar1 UTSW 5 123879741 start gained probably benign
Posted On2015-04-16