Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02340:Hcar1'

289045

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hcar1

Ensembl Gene

ENSMUSG00000049241

Gene Name

hydrocarboxylic acid receptor 1

Synonyms

Gpr81

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

IGL02340

Quality Score

Status

Chromosome

Chromosomal Location

124014802-124018066 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 124017135 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 185 (H185Q)

Ref Sequence

ENSEMBL: ENSMUSP00000129280 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000164267]

AlphaFold

no structure available at present

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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt2	T	A	7: 27,328,824 (GRCm39)	I182N	probably damaging	Het
Alpk3	A	G	7: 80,728,255 (GRCm39)	T462A	probably benign	Het
Amz1	A	G	5: 140,738,014 (GRCm39)	R425G	probably damaging	Het
Aoc2	A	G	11: 101,217,201 (GRCm39)	E428G	probably damaging	Het
Car4	C	T	11: 84,856,593 (GRCm39)	P294S	probably damaging	Het
Chchd6	A	T	6: 89,396,762 (GRCm39)	H216Q	probably damaging	Het
Chl1	A	G	6: 103,675,086 (GRCm39)	Y591C	probably damaging	Het
Cln8	T	C	8: 14,945,178 (GRCm39)	L164S	probably damaging	Het
Dscaml1	T	C	9: 45,581,474 (GRCm39)	I431T	possibly damaging	Het
Fam234b	T	C	6: 135,208,659 (GRCm39)	L524P	probably damaging	Het
Fmo1	T	C	1: 162,660,559 (GRCm39)	N410S	probably benign	Het
Ftsj3	G	A	11: 106,143,972 (GRCm39)	R251*	probably null	Het
Greb1l	A	T	18: 10,515,200 (GRCm39)	D555V	probably damaging	Het
Kcnj12	G	A	11: 60,960,319 (GRCm39)	V206I	probably benign	Het
Lamc3	G	A	2: 31,808,469 (GRCm39)	G742S	probably damaging	Het
Lipg	T	C	18: 75,093,946 (GRCm39)		probably null	Het
Ltbp2	A	G	12: 84,839,729 (GRCm39)		probably null	Het
Mcm3ap	T	G	10: 76,332,386 (GRCm39)	Y1234*	probably null	Het
Myh6	T	A	14: 55,194,612 (GRCm39)	D719V	possibly damaging	Het
Myo9b	A	G	8: 71,743,689 (GRCm39)	N250S	probably damaging	Het
Nherf1	A	G	11: 115,070,858 (GRCm39)	E270G	probably benign	Het
Notch2	G	A	3: 98,054,652 (GRCm39)	W2438*	probably null	Het
Nphp1	G	A	2: 127,621,987 (GRCm39)	Q47*	probably null	Het
Nptx2	T	C	5: 144,493,056 (GRCm39)	L381P	probably damaging	Het
Nrxn3	A	G	12: 90,171,402 (GRCm39)	N911S	possibly damaging	Het
Or10j2	A	T	1: 173,097,972 (GRCm39)	I77F	probably benign	Het
Or5d46	T	C	2: 88,169,906 (GRCm39)		probably benign	Het
P4ha1	T	A	10: 59,188,023 (GRCm39)	F260Y	probably benign	Het
Pitpnm2	T	C	5: 124,268,676 (GRCm39)	D504G	probably damaging	Het
Prss54	A	G	8: 96,292,237 (GRCm39)	V114A	probably benign	Het
Ptprc	G	A	1: 137,998,957 (GRCm39)	T1031M	probably damaging	Het
Rtf2	T	C	2: 172,310,511 (GRCm39)		probably benign	Het
Ryr3	A	G	2: 112,777,349 (GRCm39)		probably benign	Het
Slc14a2	C	T	18: 78,206,341 (GRCm39)	E492K	probably damaging	Het
Stab1	G	T	14: 30,862,367 (GRCm39)	N2322K	probably damaging	Het
Thsd7b	A	G	1: 130,087,369 (GRCm39)	N1162S	probably benign	Het
Tmprss11b	T	C	5: 86,810,090 (GRCm39)	I297V	probably benign	Het
Tnn	T	C	1: 159,972,775 (GRCm39)	N276D	probably benign	Het
Trhde	A	T	10: 114,428,118 (GRCm39)		probably benign	Het
Vmn1r115	T	A	7: 20,578,453 (GRCm39)	H153L	possibly damaging	Het
Vmn1r203	T	A	13: 22,708,997 (GRCm39)	C259*	probably null	Het
Xpot	T	A	10: 121,451,109 (GRCm39)	E97V	probably damaging	Het
Zbtb2	T	C	10: 4,318,712 (GRCm39)	D438G	probably damaging	Het

Other mutations in Hcar1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1860:Hcar1	UTSW	5	124,017,092 (GRCm39)	missense	probably damaging	1.00
R1874:Hcar1	UTSW	5	124,017,328 (GRCm39)	missense	probably damaging	1.00
R2262:Hcar1	UTSW	5	124,016,649 (GRCm39)	missense	probably benign	0.00
R3981:Hcar1	UTSW	5	124,016,683 (GRCm39)	missense	probably benign	0.03
R4851:Hcar1	UTSW	5	124,016,731 (GRCm39)	missense	probably benign	0.00
R5034:Hcar1	UTSW	5	124,017,732 (GRCm39)	start gained	probably benign
R6805:Hcar1	UTSW	5	124,017,193 (GRCm39)	missense	probably benign	0.01
R7259:Hcar1	UTSW	5	124,017,275 (GRCm39)	missense	possibly damaging	0.92
R7346:Hcar1	UTSW	5	124,017,693 (GRCm39)	start gained	probably benign
R7410:Hcar1	UTSW	5	124,017,161 (GRCm39)	missense	possibly damaging	0.82
R8120:Hcar1	UTSW	5	124,017,068 (GRCm39)	missense	probably damaging	0.99
R8171:Hcar1	UTSW	5	124,017,152 (GRCm39)	missense	probably damaging	0.99
R8465:Hcar1	UTSW	5	124,017,109 (GRCm39)	missense	probably damaging	1.00
R8767:Hcar1	UTSW	5	124,017,113 (GRCm39)	missense	probably damaging	1.00
Z1176:Hcar1	UTSW	5	124,017,804 (GRCm39)	start gained	probably benign

Posted On

2015-04-16