Mutagenetix > Incidental Mutation

Incidental Mutation 'R9384:Hcar2'

710198

Institutional Source

Beutler Lab

Gene Symbol

Hcar2

Ensembl Gene

ENSMUSG00000045502

Gene Name

hydroxycarboxylic acid receptor 2

Synonyms

HM74, Niacr1, Gpr109a, PUMA-G, Pumag, Gpr109b

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.171) question?

Stock #

R9384 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

124001633-124003562 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 124002597 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 302 (F302Y)

Ref Sequence

ENSEMBL: ENSMUSP00000054104 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057145]

AlphaFold

Q9EP66

Predicted Effect

probably benign
Transcript: ENSMUST00000057145
AA Change: F302Y

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000054104
Gene: ENSMUSG00000045502
AA Change: F302Y

Domain	Start	End	E-Value	Type
Pfam:7tm_1	41	291	4.6e-33	PFAM
low complexity region	293	303	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene showed impaired reductions of free fatty acid (FFA) and triglyceride plasma levels in response to nicotinic acid. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A3galt2	G	A	4: 128,655,851 (GRCm39)	C73Y	probably damaging	Het
Agrn	C	T	4: 156,257,106 (GRCm39)	A1213T	probably damaging	Het
Arhgef10	T	C	8: 15,041,067 (GRCm39)	L1079P	probably damaging	Het
Cdcp3	T	C	7: 130,904,404 (GRCm39)	V2374A	unknown	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Coro6	A	G	11: 77,360,218 (GRCm39)	E436G	probably benign	Het
D430041D05Rik	A	G	2: 104,087,920 (GRCm39)	V352A	probably benign	Het
Dcbld2	C	T	16: 58,285,926 (GRCm39)	T695I	probably damaging	Het
Dclk1	A	C	3: 55,154,936 (GRCm39)	Q122P	possibly damaging	Het
Dsel	C	A	1: 111,787,863 (GRCm39)	E891*	probably null	Het
Eral1	A	T	11: 77,969,130 (GRCm39)	N123K	probably damaging	Het
Fzd6	C	A	15: 38,895,102 (GRCm39)	L423M	probably damaging	Het
Fzd6	T	G	15: 38,895,103 (GRCm39)	L423R	probably damaging	Het
Galntl6	G	T	8: 58,415,461 (GRCm39)	L231I	probably damaging	Het
Gm7137	A	G	10: 77,623,614 (GRCm39)	S141P	unknown	Het
Grm5	T	C	7: 87,723,518 (GRCm39)	Y603H	probably damaging	Het
Hs3st1	T	G	5: 39,771,962 (GRCm39)	D227A	possibly damaging	Het
Igkv7-33	G	T	6: 70,036,174 (GRCm39)	Q4K	possibly damaging	Het
Itprid1	A	T	6: 55,952,613 (GRCm39)	Q852L	probably damaging	Het
Kcp	C	T	6: 29,496,618 (GRCm39)		probably null	Het
Lrrc23	T	C	6: 124,755,189 (GRCm39)	K116R	possibly damaging	Het
Lrriq1	T	A	10: 103,006,458 (GRCm39)	R1222S	probably benign	Het
Nav3	T	A	10: 109,554,158 (GRCm39)	I1735F	probably damaging	Het
Neto1	A	T	18: 86,413,965 (GRCm39)		probably benign	Het
Nlrp9a	T	A	7: 26,258,158 (GRCm39)	L592Q	probably damaging	Het
Or1e30	C	A	11: 73,677,796 (GRCm39)	Q11K	probably benign	Het
Or5t7	T	A	2: 86,507,357 (GRCm39)	T107S	probably benign	Het
Pcdhb20	T	A	18: 37,638,024 (GRCm39)	H183Q	probably benign	Het
Pde4b	A	G	4: 102,112,448 (GRCm39)	T11A	probably benign	Het
Pou2af3	T	C	9: 51,183,638 (GRCm39)	N112S	probably benign	Het
Ptcd3	A	G	6: 71,874,110 (GRCm39)	S234P	possibly damaging	Het
Rtn4	T	C	11: 29,658,471 (GRCm39)	V875A	probably benign	Het
Slc12a8	T	A	16: 33,466,947 (GRCm39)	C485S	probably benign	Het
Smc1b	A	G	15: 84,950,455 (GRCm39)	S1190P	probably damaging	Het
Sorbs2	A	G	8: 46,258,864 (GRCm39)	R1134G	probably benign	Het
Sugt1	T	C	14: 79,866,388 (GRCm39)	Y336H	probably damaging	Het
Tas2r134	A	T	2: 51,518,034 (GRCm39)	Y171F	probably damaging	Het
Tdrd6	A	T	17: 43,937,783 (GRCm39)	D1088E	probably benign	Het
Tgfbrap1	A	T	1: 43,095,912 (GRCm39)	W509R	probably damaging	Het
Tmem115	T	C	9: 107,411,742 (GRCm39)	V22A	possibly damaging	Het
Tmem260	A	G	14: 48,724,276 (GRCm39)	T223A	probably benign	Het
Tmprss6	G	A	15: 78,328,302 (GRCm39)	H565Y	probably damaging	Het
Ubr4	A	G	4: 139,194,631 (GRCm39)	S1175G	unknown	Het
Uspl1	T	C	5: 149,151,349 (GRCm39)	S850P	probably benign	Het
Vmn2r11	C	A	5: 109,201,266 (GRCm39)	A413S	probably damaging	Het
Vmn2r19	T	G	6: 123,292,923 (GRCm39)	S322A	probably benign	Het
Zfp606	T	A	7: 12,227,935 (GRCm39)	C685*	probably null	Het

Other mutations in Hcar2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00827:Hcar2	APN	5	124,002,565 (GRCm39)	missense	probably benign	0.24
IGL01682:Hcar2	APN	5	124,002,582 (GRCm39)	missense	probably benign	0.09
R1450:Hcar2	UTSW	5	124,002,813 (GRCm39)	missense	probably damaging	0.98
R3014:Hcar2	UTSW	5	124,002,768 (GRCm39)	missense	probably damaging	1.00
R3853:Hcar2	UTSW	5	124,002,475 (GRCm39)	missense	probably benign
R4539:Hcar2	UTSW	5	124,002,793 (GRCm39)	missense	probably damaging	1.00
R4720:Hcar2	UTSW	5	124,002,752 (GRCm39)	frame shift	probably null
R4784:Hcar2	UTSW	5	124,002,513 (GRCm39)	missense	probably benign	0.02
R4785:Hcar2	UTSW	5	124,002,513 (GRCm39)	missense	probably benign	0.02
R4886:Hcar2	UTSW	5	124,003,260 (GRCm39)	missense	probably benign	0.01
R5632:Hcar2	UTSW	5	124,002,532 (GRCm39)	missense	probably benign	0.17
R6211:Hcar2	UTSW	5	124,003,017 (GRCm39)	missense	probably benign	0.01
R6796:Hcar2	UTSW	5	124,003,330 (GRCm39)	missense	probably benign	0.00
R7341:Hcar2	UTSW	5	124,002,541 (GRCm39)	missense	possibly damaging	0.66
R7483:Hcar2	UTSW	5	124,002,861 (GRCm39)	missense	probably benign	0.33
R7497:Hcar2	UTSW	5	124,003,249 (GRCm39)	missense	probably benign	0.04
R7685:Hcar2	UTSW	5	124,003,396 (GRCm39)	missense	possibly damaging	0.69
R8429:Hcar2	UTSW	5	124,003,538 (GRCm39)	start gained	probably benign
R8984:Hcar2	UTSW	5	124,002,571 (GRCm39)	nonsense	probably null
R9192:Hcar2	UTSW	5	124,003,354 (GRCm39)	missense	possibly damaging	0.95
R9658:Hcar2	UTSW	5	124,002,532 (GRCm39)	missense	possibly damaging	0.83
Z1177:Hcar2	UTSW	5	124,003,269 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTAACGAGATGTGGAAGCCAG -3'
(R):5'- TCAACTTCATCATGGTGGTGG -3'

Sequencing Primer
(F):5'- TTAACGAGATGTGGAAGCCAGATAAG -3'
(R):5'- TCCTACCCAGTGTGGCTGTG -3'

Posted On

2022-04-18