Mutagenetix > Incidental Mutation

Incidental Mutation 'R4393:Or2h2c'

326499

Institutional Source

Beutler Lab

Gene Symbol

Or2h2c

Ensembl Gene

ENSMUSG00000096477

Gene Name

olfactory receptor family 2 subfamily H member 2C

Synonyms

MOR256-29, Olfr92, GA_x6K02T2PSCP-1552066-1551128

MMRRC Submission

041128-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R4393 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37421934-37422872 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 37424971 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000150988 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168659] [ENSMUST00000214994] [ENSMUST00000216341]

AlphaFold

L7N475

Predicted Effect

probably benign
Transcript: ENSMUST00000168659

SMART Domains

Protein: ENSMUSP00000128393
Gene: ENSMUSG00000096477

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srv	23	304	5.1e-7	PFAM
Pfam:7tm_4	29	306	3.4e-50	PFAM
Pfam:7tm_1	39	288	1.1e-26	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174626

Predicted Effect

probably benign
Transcript: ENSMUST00000214994

Predicted Effect

probably benign
Transcript: ENSMUST00000216341

Coding Region Coverage

1x: 99.6%
3x: 98.7%
10x: 96.5%
20x: 92.4%

Validation Efficiency

95% (71/75)

MGI Phenotype

FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433N12Rik	C	A	9: 3,134,944 (GRCm39)		noncoding transcript	Het
Adgrg4	T	G	X: 55,977,703 (GRCm39)	L2193V	probably damaging	Het
Adgrl1	T	C	8: 84,665,222 (GRCm39)	V1353A	probably benign	Het
Cep68	A	T	11: 20,188,544 (GRCm39)	N620K	probably benign	Het
Clcnkb	A	G	4: 141,139,547 (GRCm39)	S152P	probably benign	Het
Crybg3	A	G	16: 59,380,458 (GRCm39)		probably benign	Het
Cyp26c1	G	A	19: 37,675,105 (GRCm39)	R142H	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dlg5	T	A	14: 24,228,057 (GRCm39)		probably null	Het
Dnai7	T	C	6: 145,140,304 (GRCm39)	T166A	possibly damaging	Het
Ebf3	C	T	7: 136,826,886 (GRCm39)	R342H	probably damaging	Het
Ece2	T	C	16: 20,451,598 (GRCm39)	V380A	probably damaging	Het
Epb41l4a	C	T	18: 34,024,473 (GRCm39)		probably null	Het
Erbb3	G	T	10: 128,408,639 (GRCm39)	Q815K	probably damaging	Het
Ercc3	T	A	18: 32,398,674 (GRCm39)	M651K	probably benign	Het
Fam3b	C	A	16: 97,282,986 (GRCm39)		probably null	Het
Foxp2	A	C	6: 15,377,689 (GRCm39)		probably benign	Het
Gdf10	T	C	14: 33,654,695 (GRCm39)	Y401H	probably damaging	Het
Gm21738	G	C	14: 19,417,178 (GRCm38)	L117V	probably benign	Het
Gm6408	A	T	5: 146,419,147 (GRCm39)	D54V	probably damaging	Het
H2-T5	C	A	17: 36,472,861 (GRCm39)		probably benign	Het
Hcn4	A	G	9: 58,751,583 (GRCm39)	E403G	unknown	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hjurp	A	G	1: 88,194,283 (GRCm39)		probably benign	Het
Hyou1	T	A	9: 44,293,169 (GRCm39)	V125E	probably damaging	Het
Il11ra1	T	C	4: 41,768,577 (GRCm39)		probably null	Het
Immt	T	A	6: 71,849,784 (GRCm39)	S435T	probably benign	Het
Kcnip2	A	G	19: 45,800,669 (GRCm39)	L19P	probably benign	Het
Kctd2	T	C	11: 115,320,326 (GRCm39)		probably benign	Het
Mdga1	T	C	17: 30,069,491 (GRCm39)	D185G	probably damaging	Het
Mdn1	C	T	4: 32,754,482 (GRCm39)	T4666M	possibly damaging	Het
Mfsd13a	C	T	19: 46,360,431 (GRCm39)	R328C	probably damaging	Het
Msl2	A	G	9: 100,978,676 (GRCm39)	E350G	probably damaging	Het
Muc4	C	A	16: 32,754,529 (GRCm38)	H1468N	probably benign	Het
Myo3a	A	T	2: 22,467,866 (GRCm39)	K373N	probably damaging	Het
Nr5a1	T	C	2: 38,584,231 (GRCm39)	E396G	probably damaging	Het
Ogdh	G	A	11: 6,266,772 (GRCm39)	G141D	probably damaging	Het
Or10q1b	T	C	19: 13,682,554 (GRCm39)	I121T	possibly damaging	Het
Or5w1b	A	T	2: 87,476,256 (GRCm39)	C70*	probably null	Het
Orc2	C	A	1: 58,506,809 (GRCm39)		probably null	Het
P4ha3	C	T	7: 99,954,814 (GRCm39)	P291S	probably benign	Het
Pign	T	C	1: 105,449,751 (GRCm39)	K925R	probably benign	Het
Plekhm1	A	G	11: 103,267,791 (GRCm39)	S727P	possibly damaging	Het
Prr36	G	T	8: 4,264,901 (GRCm39)		probably benign	Het
Prrt3	A	G	6: 113,471,907 (GRCm39)	L755P	probably benign	Het
Secisbp2	A	G	13: 51,808,502 (GRCm39)	H89R	probably damaging	Het
Sgms2	A	T	3: 131,135,466 (GRCm39)		probably null	Het
Slc35d3	T	C	10: 19,725,352 (GRCm39)		probably null	Het
Slu7	T	A	11: 43,330,096 (GRCm39)	N174K	possibly damaging	Het
Teddm1a	G	T	1: 153,768,192 (GRCm39)	D219Y	probably damaging	Het
Tgtp1	C	A	11: 48,878,450 (GRCm39)	G85V	probably damaging	Het
Tmem51	T	C	4: 141,759,242 (GRCm39)	T169A	probably benign	Het
Tmem69	C	T	4: 116,411,964 (GRCm39)		probably null	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Ugt1a10	C	T	1: 88,142,845 (GRCm39)	P113L	probably damaging	Het
Vmn2r79	A	G	7: 86,651,099 (GRCm39)	H166R	possibly damaging	Het
Vwa3b	T	C	1: 37,084,259 (GRCm39)	V144A	probably damaging	Het
Zdhhc21	A	G	4: 82,765,891 (GRCm39)	C15R	possibly damaging	Het
Zfp142	T	C	1: 74,611,219 (GRCm39)	T756A	probably benign	Het
Zfp606	C	T	7: 12,226,776 (GRCm39)	S241F	probably damaging	Het
Zfp804a	A	T	2: 82,087,265 (GRCm39)	T365S	probably benign	Het

Other mutations in Or2h2c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01527:Or2h2c	APN	17	37,422,701 (GRCm39)	missense	probably damaging	1.00
IGL02850:Or2h2c	APN	17	37,422,865 (GRCm39)	missense	probably benign	0.35
IGL03209:Or2h2c	APN	17	37,422,413 (GRCm39)	missense	probably benign	0.04
R0579:Or2h2c	UTSW	17	37,422,347 (GRCm39)	missense	probably benign	0.00
R0580:Or2h2c	UTSW	17	37,422,347 (GRCm39)	missense	probably benign	0.00
R0582:Or2h2c	UTSW	17	37,422,347 (GRCm39)	missense	probably benign	0.00
R0615:Or2h2c	UTSW	17	37,422,347 (GRCm39)	missense	probably benign	0.00
R0669:Or2h2c	UTSW	17	37,422,347 (GRCm39)	missense	probably benign	0.00
R0674:Or2h2c	UTSW	17	37,422,347 (GRCm39)	missense	probably benign	0.00
R0675:Or2h2c	UTSW	17	37,422,347 (GRCm39)	missense	probably benign	0.00
R2424:Or2h2c	UTSW	17	37,422,408 (GRCm39)	missense	probably benign	0.02
R3714:Or2h2c	UTSW	17	37,422,227 (GRCm39)	missense	probably damaging	1.00
R5811:Or2h2c	UTSW	17	37,422,649 (GRCm39)	missense	probably benign	0.00
R6615:Or2h2c	UTSW	17	37,422,494 (GRCm39)	missense	probably damaging	1.00
R6853:Or2h2c	UTSW	17	37,422,400 (GRCm39)	missense	probably benign	0.02
R6876:Or2h2c	UTSW	17	37,422,098 (GRCm39)	missense	probably damaging	1.00
R7665:Or2h2c	UTSW	17	37,422,283 (GRCm39)	missense	probably benign	0.20
R8087:Or2h2c	UTSW	17	37,422,440 (GRCm39)	missense	probably benign
R9224:Or2h2c	UTSW	17	37,422,767 (GRCm39)	missense	possibly damaging	0.53
R9439:Or2h2c	UTSW	17	37,422,205 (GRCm39)	missense	probably damaging	1.00
R9541:Or2h2c	UTSW	17	37,422,824 (GRCm39)	missense	probably benign	0.00
R9559:Or2h2c	UTSW	17	37,422,509 (GRCm39)	missense	possibly damaging	0.84
Z1177:Or2h2c	UTSW	17	37,422,322 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- ATCACCAGAGGAGATATTCAGACC -3'
(R):5'- TTCCACTCCAAAGGGTCCAG -3'

Sequencing Primer
(F):5'- ACAGTCAGTGCCTCAATGATG -3'
(R):5'- AAAGGGTCCAGCTCGATGTC -3'

Posted On

2015-07-06