Mutagenetix > Incidental Mutation

Incidental Mutation 'R7665:Or2h2c'

591897

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

045739-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R7665 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37421934-37422872 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37422283 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 197 (M197T)

Ref Sequence

ENSEMBL: ENSMUSP00000150998 (fasta)

Gene Model

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

AlphaFold

L7N475

Predicted Effect

probably benign
Transcript: ENSMUST00000168659
AA Change: M197T

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000128393
Gene: ENSMUSG00000096477
AA Change: M197T

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

probably benign
Transcript: ENSMUST00000214994
AA Change: M197T

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000216341
AA Change: M197T

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (72/72)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519G04Rik	A	G	5: 115,012,384 (GRCm39)		probably null	Het
A830018L16Rik	T	C	1: 12,042,323 (GRCm39)	S448P	probably damaging	Het
Abca4	C	T	3: 121,838,139 (GRCm39)		probably benign	Het
Ackr2	A	G	9: 121,738,374 (GRCm39)	M250V	probably benign	Het
Actn4	A	G	7: 28,615,632 (GRCm39)	I147T	probably damaging	Het
Adgrv1	C	T	13: 81,647,261 (GRCm39)	S3093N	probably damaging	Het
Arid5b	C	T	10: 67,934,417 (GRCm39)	G495E	probably benign	Het
Armh1	C	A	4: 117,070,938 (GRCm39)	A396S	probably benign	Het
Brwd1	G	A	16: 95,842,543 (GRCm39)	T798M	probably benign	Het
Cdk13	G	A	13: 17,947,138 (GRCm39)	T540I	possibly damaging	Het
Cdkn1c	A	G	7: 143,014,371 (GRCm39)	V25A	possibly damaging	Het
Col2a1	T	C	15: 97,874,581 (GRCm39)	E1420G	unknown	Het
Dbf4	G	A	5: 8,447,867 (GRCm39)	P448S	probably damaging	Het
Dnajb7	T	C	15: 81,291,620 (GRCm39)	N239S	probably benign	Het
Dnttip1	A	G	2: 164,596,061 (GRCm39)	D102G	probably damaging	Het
Dpp8	T	A	9: 64,986,000 (GRCm39)	V830D	probably damaging	Het
Eddm13	G	A	7: 6,272,891 (GRCm39)		probably null	Het
Eef1g	T	C	19: 8,945,653 (GRCm39)	V29A	probably benign	Het
Enpp2	T	A	15: 54,702,790 (GRCm39)	Y906F	probably damaging	Het
Epb41l4a	A	G	18: 34,139,069 (GRCm39)	L23P	possibly damaging	Het
Exoc1	T	A	5: 76,691,420 (GRCm39)	M248K	probably benign	Het
Fam83b	T	C	9: 76,398,157 (GRCm39)	Y982C	probably damaging	Het
Fat4	C	T	3: 38,943,327 (GRCm39)	A740V	probably benign	Het
Fsip2	T	A	2: 82,812,149 (GRCm39)	S2823T	probably benign	Het
Gckr	T	C	5: 31,454,899 (GRCm39)			Het
Gpr150	A	T	13: 76,204,093 (GRCm39)	V284E	probably damaging	Het
Grtp1	T	G	8: 13,227,103 (GRCm39)	I344L	probably benign	Het
Heatr5a	T	A	12: 52,008,313 (GRCm39)	N10I	probably damaging	Het
Herc2	C	A	7: 55,802,903 (GRCm39)	L2109I	probably damaging	Het
Hs1bp3	T	A	12: 8,367,935 (GRCm39)	D61E	probably damaging	Het
Ifit1bl1	T	A	19: 34,572,283 (GRCm39)	Y58F	probably benign	Het
Itfg1	A	G	8: 86,490,979 (GRCm39)	F317L	probably benign	Het
Itsn1	T	C	16: 91,638,491 (GRCm39)	I764T	unknown	Het
Med8	A	C	4: 118,268,853 (GRCm39)		probably null	Het
Mpeg1	C	A	19: 12,440,458 (GRCm39)	P639T	probably damaging	Het
Mtcl3	T	A	10: 29,072,393 (GRCm39)	Y562N	probably damaging	Het
Nedd9	A	G	13: 41,469,785 (GRCm39)	L456P	probably benign	Het
Neo1	A	G	9: 58,833,078 (GRCm39)	S556P	probably damaging	Het
Nphp3	T	A	9: 103,882,592 (GRCm39)		probably null	Het
Nup205	T	C	6: 35,154,555 (GRCm39)	V53A	possibly damaging	Het
Nvl	A	T	1: 180,962,509 (GRCm39)	S154T	probably benign	Het
Or10h1	G	T	17: 33,418,603 (GRCm39)	G194*	probably null	Het
Or1e31	A	T	11: 73,689,787 (GRCm39)	N265K	probably benign	Het
Or2ag2	A	T	7: 106,485,880 (GRCm39)	V48D	possibly damaging	Het
Or51ah3	A	T	7: 103,210,523 (GRCm39)	I280F	probably benign	Het
Or9k7	T	A	10: 130,047,130 (GRCm39)		probably null	Het
Parvg	T	C	15: 84,222,002 (GRCm39)	I243T	probably damaging	Het
Paxip1	T	A	5: 27,970,736 (GRCm39)	M538L	unknown	Het
Pgghg	G	T	7: 140,525,382 (GRCm39)	D428Y	probably damaging	Het
Pik3cd	C	T	4: 149,738,507 (GRCm39)	V777M	possibly damaging	Het
Plcl2	A	C	17: 50,914,185 (GRCm39)	K398T	probably benign	Het
Plxna1	A	T	6: 89,301,520 (GRCm39)		probably null	Het
Rbbp6	T	A	7: 122,589,255 (GRCm39)		probably null	Het
Rbbp6	T	C	7: 122,593,909 (GRCm39)	Y514H	possibly damaging	Het
Scin	T	A	12: 40,119,414 (GRCm39)	N538I	probably damaging	Het
Sdcbp	A	G	4: 6,385,144 (GRCm39)	D121G	probably benign	Het
Sgk1	T	C	10: 21,872,561 (GRCm39)	I311T	probably damaging	Het
Shq1	A	C	6: 100,550,717 (GRCm39)	L407W	probably damaging	Het
Sipa1	A	T	19: 5,701,699 (GRCm39)	S979T	probably benign	Het
Slc25a37	G	T	14: 69,487,028 (GRCm39)	T85K	probably benign	Het
Spag9	A	T	11: 93,904,480 (GRCm39)	Q112L	probably damaging	Het
Spg11	A	T	2: 121,896,748 (GRCm39)	V1686E	probably damaging	Het
Stap2	A	G	17: 56,304,909 (GRCm39)	V291A	probably benign	Het
Tnk2	C	T	16: 32,499,344 (GRCm39)	R886C	probably damaging	Het
Tnrc6c	T	A	11: 117,611,777 (GRCm39)	D138E	possibly damaging	Het
Unc13c	A	G	9: 73,587,756 (GRCm39)	S1426P	probably benign	Het
Vav1	G	A	17: 57,604,086 (GRCm39)	V163M	probably damaging	Het
Vmn2r67	T	A	7: 84,801,196 (GRCm39)	K247*	probably null	Het
Zc2hc1c	T	C	12: 85,343,336 (GRCm39)	V491A	possibly damaging	Het
Zfp51	A	G	17: 21,683,843 (GRCm39)	T153A	probably benign	Het
Zyx	A	G	6: 42,333,096 (GRCm39)	E374G	probably damaging	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
R4393:Or2h2c	UTSW	17	37,424,971 (GRCm39)	intron	probably benign
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
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'- ACAGCAATGACTGAGCTGTAG -3'
(R):5'- TGGCCTTTGACCGCTATGTG -3'

Sequencing Primer
(F):5'- CTGAGCTGTAGAAGAGAGTGACCAC -3'
(R):5'- CACCTATGTCGCCAGTTGG -3'

Posted On

2019-11-12