Mutagenetix > Incidental Mutation

Incidental Mutation 'R6853:Or2h2c'

535118

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

044956-MU

Accession Numbers

Essential gene?

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

Stock #

R6853 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37421934-37422872 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 37422400 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 158 (T158I)

Ref Sequence

ENSEMBL: ENSMUSP00000150988 (fasta)

Gene Model

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

AlphaFold

L7N475

Predicted Effect

probably benign
Transcript: ENSMUST00000168659
AA Change: T158I

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000128393
Gene: ENSMUSG00000096477
AA Change: T158I

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: T158I

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000216341
AA Change: T158I

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

98% (63/64)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030458C11Rik	G	T	15: 12,818,031 (GRCm39)	D138E	probably benign	Het
Atp13a5	A	G	16: 29,140,480 (GRCm39)	S359P	possibly damaging	Het
Bcam	T	C	7: 19,494,331 (GRCm39)	D355G	probably damaging	Het
Bmp8a	C	A	4: 123,236,476 (GRCm39)	W9L	unknown	Het
Cacul1	A	T	19: 60,517,904 (GRCm39)	Y334*	probably null	Het
Ccdc178	A	T	18: 22,242,933 (GRCm39)	N227K	probably benign	Het
Ceacam2	T	C	7: 25,217,561 (GRCm39)	N318S	possibly damaging	Het
Cntrl	T	A	2: 35,019,833 (GRCm39)	S553R	possibly damaging	Het
Ctsa	T	A	2: 164,679,284 (GRCm39)	M331K	probably benign	Het
Cyp2c38	T	A	19: 39,426,748 (GRCm39)	Q184H	probably benign	Het
Cyp2c70	C	T	19: 40,172,364 (GRCm39)	E93K	possibly damaging	Het
D430041D05Rik	C	T	2: 104,071,500 (GRCm39)	V1267M	probably damaging	Het
Ddias	C	T	7: 92,508,773 (GRCm39)	A381T	possibly damaging	Het
Dnhd1	G	A	7: 105,352,935 (GRCm39)	C2696Y	probably benign	Het
Efr3a	G	A	15: 65,701,679 (GRCm39)	V198I	probably benign	Het
Farp2	T	C	1: 93,497,738 (GRCm39)	F256S	probably damaging	Het
Fga	A	G	3: 82,938,219 (GRCm39)	Y198C	probably damaging	Het
Gabpa	T	A	16: 84,657,387 (GRCm39)	C421S	probably damaging	Het
Gm21798	A	T	15: 64,689,714 (GRCm39)		probably benign	Het
Gm21798	A	T	15: 64,689,716 (GRCm39)		probably benign	Het
Gm7145	A	C	1: 117,913,874 (GRCm39)	N252T	possibly damaging	Het
H2-Q6	T	C	17: 35,647,335 (GRCm39)	*327R	probably null	Het
H6pd	T	C	4: 150,066,919 (GRCm39)	D489G	probably benign	Het
Htra2	A	G	6: 83,030,812 (GRCm39)		probably benign	Het
Ice1	T	G	13: 70,751,421 (GRCm39)	E1555A	possibly damaging	Het
Inpp5d	T	A	1: 87,609,402 (GRCm39)		probably null	Het
Itih2	T	C	2: 10,120,077 (GRCm39)	D320G	probably damaging	Het
Kif1a	T	G	1: 92,967,524 (GRCm39)	H1129P	possibly damaging	Het
Kmt2a	G	A	9: 44,729,704 (GRCm39)		probably benign	Het
L3mbtl4	G	A	17: 69,084,915 (GRCm39)	D609N	probably damaging	Het
Lgals9	A	T	11: 78,856,832 (GRCm39)	D248E	probably benign	Het
Lhx9	ACC	ACCC	1: 138,769,544 (GRCm39)		probably null	Het
Msh3	A	G	13: 92,449,080 (GRCm39)		probably null	Het
Mtus2	A	G	5: 148,043,821 (GRCm39)	K803R	probably damaging	Het
Oas1a	T	A	5: 121,045,491 (GRCm39)	I17L	possibly damaging	Het
Or5b121	T	A	19: 13,507,295 (GRCm39)	I130K	possibly damaging	Het
Or5k15	C	T	16: 58,710,121 (GRCm39)	S154N	possibly damaging	Het
Or5k15	T	A	16: 58,710,122 (GRCm39)	S154C	probably damaging	Het
Or7g32	T	G	9: 19,408,102 (GRCm39)	Y19*	probably null	Het
Otof	T	C	5: 30,545,583 (GRCm39)	D539G	probably damaging	Het
Pabpc4	T	C	4: 123,188,536 (GRCm39)	Y382H	possibly damaging	Het
Rag1	T	C	2: 101,472,566 (GRCm39)	T859A	probably damaging	Het
Ralbp1	C	T	17: 66,159,751 (GRCm39)	R504H	possibly damaging	Het
Sdk2	A	G	11: 113,671,755 (GRCm39)	F2131S	probably damaging	Het
Sik1	A	T	17: 32,073,180 (GRCm39)		probably null	Het
Sis	A	G	3: 72,798,759 (GRCm39)	I1763T	possibly damaging	Het
Slc39a6	A	G	18: 24,732,376 (GRCm39)	I304T	possibly damaging	Het
Slc5a12	A	G	2: 110,454,539 (GRCm39)	S367G	probably benign	Het
Smchd1	A	T	17: 71,743,738 (GRCm39)	W476R	probably damaging	Het
Spag17	T	C	3: 99,920,551 (GRCm39)	Y429H	possibly damaging	Het
Stt3a	G	A	9: 36,653,023 (GRCm39)	S553F	possibly damaging	Het
Sult2a1	C	T	7: 13,535,412 (GRCm39)	V214I	possibly damaging	Het
Supt6	T	C	11: 78,123,656 (GRCm39)	E38G	possibly damaging	Het
Tenm4	G	A	7: 96,486,502 (GRCm39)	G990R	possibly damaging	Het
Thop1	T	C	10: 80,911,495 (GRCm39)		probably null	Het
Thumpd2	C	A	17: 81,372,459 (GRCm39)	D11Y	possibly damaging	Het
Tmf1	T	G	6: 97,145,810 (GRCm39)	I574L	probably damaging	Het
Tnfaip3	A	G	10: 18,879,499 (GRCm39)	V623A	probably benign	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Ush2a	T	G	1: 188,643,434 (GRCm39)	Y4265*	probably null	Het
Vamp5	G	A	6: 72,357,424 (GRCm39)		probably benign	Het
Vmn2r12	A	T	5: 109,240,771 (GRCm39)	L114Q	probably damaging	Het
Vmn2r98	A	T	17: 19,286,063 (GRCm39)	Y187F	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
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
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'- TCCCAAAAGCTTTCCTGCG -3'
(R):5'- CATGTCCCTGGGTACAACAG -3'

Sequencing Primer
(F):5'- TGCAGAGCTTATCTTCAGCAC -3'
(R):5'- AGAGTGCATCCTCCTGACTGTAATG -3'

Posted On

2018-09-12