Mutagenetix > Incidental Mutation

Incidental Mutation 'R1917:Or6c2'

212621

Institutional Source

Beutler Lab

Gene Symbol

Or6c2

Ensembl Gene

ENSMUSG00000047626

Gene Name

olfactory receptor family 6 subfamily C member 2

Synonyms

MOR114-1, Olfr791, GA_x6K02T2PULF-11205096-11206034

MMRRC Submission

039935-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R1917 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129362098-129363036 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129362918 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 274 (V274D)

Ref Sequence

ENSEMBL: ENSMUSP00000150497 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057477] [ENSMUST00000217228]

AlphaFold

Q8VGJ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000057477
AA Change: V274D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000052722
Gene: ENSMUSG00000047626
AA Change: V274D

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	307	7.6e-45	PFAM
Pfam:7TM_GPCR_Srsx	33	303	4.3e-6	PFAM
Pfam:7tm_1	39	288	4.7e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000217228
AA Change: V274D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Meta Mutation Damage Score

0.6635

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.8%
20x: 93.6%

Validation Efficiency

100% (83/83)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	G	11: 109,982,341 (GRCm39)		probably benign	Het
Adgre5	A	G	8: 84,455,738 (GRCm39)	V190A	probably damaging	Het
Akap6	A	G	12: 53,151,395 (GRCm39)	N1153S	probably benign	Het
Aldh1a7	G	A	19: 20,704,819 (GRCm39)	H20Y	probably benign	Het
B430306N03Rik	A	G	17: 48,631,176 (GRCm39)	E278G	probably benign	Het
Cacna1b	C	A	2: 24,506,891 (GRCm39)	R72L	probably null	Het
Cc2d2a	C	G	5: 43,863,564 (GRCm39)	S675R	probably damaging	Het
Ccdc88b	T	A	19: 6,826,594 (GRCm39)	E1040D	probably damaging	Het
Cmtm7	A	G	9: 114,592,432 (GRCm39)	V55A	probably damaging	Het
Coq4	A	C	2: 29,679,938 (GRCm39)	T77P	probably damaging	Het
Cyp2j11	C	A	4: 96,228,211 (GRCm39)	W136L	probably damaging	Het
Dctn2	T	A	10: 127,110,918 (GRCm39)	Y86*	probably null	Het
Ddx56	A	G	11: 6,213,937 (GRCm39)		probably null	Het
Dop1b	T	C	16: 93,513,150 (GRCm39)	S30P	probably damaging	Het
Ep400	T	C	5: 110,851,441 (GRCm39)	K1347R	unknown	Het
Fat3	T	A	9: 15,908,353 (GRCm39)	T2550S	possibly damaging	Het
Fcrla	G	T	1: 170,755,095 (GRCm39)	C5*	probably null	Het
Fem1al	A	G	11: 29,774,039 (GRCm39)	S473P	probably benign	Het
Fermt1	T	A	2: 132,764,762 (GRCm39)	D365V	probably damaging	Het
Fhod3	A	G	18: 25,123,022 (GRCm39)		probably benign	Het
Fhod3	A	G	18: 25,218,658 (GRCm39)	D807G	probably benign	Het
Fnip1	C	T	11: 54,371,510 (GRCm39)	T177I	probably damaging	Het
Gart	T	C	16: 91,425,037 (GRCm39)	Y662C	probably damaging	Het
Gda	A	T	19: 21,375,004 (GRCm39)		probably benign	Het
Gk	A	G	X: 84,804,186 (GRCm39)	I85T	probably damaging	Het
Gm3476	A	G	14: 6,118,358 (GRCm38)	L255P	possibly damaging	Het
Gm9966	T	C	7: 95,607,684 (GRCm39)	C2R	unknown	Het
Gnpda1	T	C	18: 38,466,243 (GRCm39)		probably null	Het
Gtf2h4	G	A	17: 35,981,090 (GRCm39)	L246F	possibly damaging	Het
Hao1	A	T	2: 134,364,980 (GRCm39)	S216T	probably benign	Het
Hnrnpr	C	A	4: 136,059,799 (GRCm39)	S301*	probably null	Het
Hsd3b2	A	G	3: 98,619,342 (GRCm39)	I201T	probably benign	Het
Jade2	T	C	11: 51,709,365 (GRCm39)	E548G	possibly damaging	Het
Katnbl1	T	C	2: 112,239,524 (GRCm39)	I241T	probably benign	Het
Keap1	G	T	9: 21,145,102 (GRCm39)	Q299K	probably benign	Het
Kif1a	T	C	1: 92,946,753 (GRCm39)	I1650V	possibly damaging	Het
Lrba	G	A	3: 86,571,808 (GRCm39)	G275R	probably damaging	Het
Map3k9	C	A	12: 81,827,564 (GRCm39)	E29*	probably null	Het
Mat1a	G	A	14: 40,843,394 (GRCm39)	V307I	probably damaging	Het
Mcm2	A	T	6: 88,868,785 (GRCm39)	M324K	possibly damaging	Het
Metap1d	T	C	2: 71,341,871 (GRCm39)	V155A	probably damaging	Het
Mtbp	A	G	15: 55,428,073 (GRCm39)		probably benign	Het
Myh14	T	C	7: 44,307,349 (GRCm39)	T231A	probably benign	Het
Mylk4	A	T	13: 32,908,836 (GRCm39)	D90E	probably benign	Het
Myo15b	T	A	11: 115,773,080 (GRCm39)	I1837K	possibly damaging	Het
Myo3a	T	A	2: 22,296,733 (GRCm39)	H242Q	probably damaging	Het
Nxn	A	G	11: 76,152,498 (GRCm39)		probably benign	Het
Pak3	C	A	X: 142,574,298 (GRCm39)	A553E	possibly damaging	Het
Pdia2	T	A	17: 26,417,079 (GRCm39)	T122S	possibly damaging	Het
Pira12	C	T	7: 3,900,637 (GRCm39)	V38M	probably damaging	Het
Plod2	A	G	9: 92,463,310 (GRCm39)	T132A	probably benign	Het
Ptprz1	T	A	6: 23,035,039 (GRCm39)		probably benign	Het
Rad54b	A	C	4: 11,601,693 (GRCm39)	N416T	probably damaging	Het
Recql4	A	T	15: 76,588,037 (GRCm39)	Y1142*	probably null	Het
Rnf216	A	G	5: 142,978,561 (GRCm39)	V859A	probably benign	Het
Scnm1	G	T	3: 95,037,584 (GRCm39)	P161T	possibly damaging	Het
Serpinb6b	A	G	13: 33,162,223 (GRCm39)	I222V	probably benign	Het
Serpinf1	A	G	11: 75,301,833 (GRCm39)	I274T	possibly damaging	Het
Slc28a1	T	C	7: 80,819,334 (GRCm39)	F641L	probably benign	Het
Slc8a2	A	G	7: 15,886,845 (GRCm39)	I657V	probably benign	Het
Smchd1	A	G	17: 71,714,232 (GRCm39)	I877T	possibly damaging	Het
Spata31	T	C	13: 65,068,679 (GRCm39)	Y276H	possibly damaging	Het
Spire2	A	G	8: 124,089,810 (GRCm39)	D447G	probably benign	Het
Stk3	G	A	15: 35,073,363 (GRCm39)	T119I	probably damaging	Het
Stxbp5	C	A	10: 9,688,042 (GRCm39)	V420F	possibly damaging	Het
Sult2a5	T	C	7: 13,404,609 (GRCm39)	F282S	probably damaging	Het
Syk	A	T	13: 52,776,744 (GRCm39)	D248V	probably damaging	Het
Thoc6	C	T	17: 23,888,364 (GRCm39)		probably benign	Het
Timd5	A	G	11: 46,419,358 (GRCm39)	D58G	possibly damaging	Het
Tll2	T	A	19: 41,116,936 (GRCm39)	D293V	possibly damaging	Het
Umodl1	G	A	17: 31,203,017 (GRCm39)	V457M	probably damaging	Het
Usp19	T	A	9: 108,376,524 (GRCm39)	C689*	probably null	Het
Usp24	T	G	4: 106,267,483 (GRCm39)	V1955G	probably damaging	Het
Vmn1r226	T	C	17: 20,907,842 (GRCm39)	S25P	probably damaging	Het
Vmn2r69	C	T	7: 85,060,891 (GRCm39)	C231Y	probably damaging	Het
Wdr73	C	T	7: 80,543,081 (GRCm39)	D176N	probably benign	Het
Wnt7b	T	A	15: 85,443,281 (GRCm39)	I41F	probably damaging	Het
Zfhx3	T	C	8: 109,682,880 (GRCm39)	S3440P	unknown	Het
Zfp52	T	G	17: 21,780,426 (GRCm39)	N91K	probably benign	Het
Zfp930	C	A	8: 69,681,357 (GRCm39)	Q350K	probably benign	Het
Zfp949	T	C	9: 88,452,115 (GRCm39)	S562P	probably damaging	Het

Other mutations in Or6c2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01153:Or6c2	APN	10	129,362,864 (GRCm39)	missense	probably damaging	0.97
IGL03034:Or6c2	APN	10	129,362,527 (GRCm39)	missense	probably benign
IGL03281:Or6c2	APN	10	129,362,272 (GRCm39)	missense	probably benign	0.31
R0555:Or6c2	UTSW	10	129,362,765 (GRCm39)	missense	possibly damaging	0.90
R1474:Or6c2	UTSW	10	129,362,824 (GRCm39)	missense	probably benign	0.03
R1638:Or6c2	UTSW	10	129,362,488 (GRCm39)	missense	probably benign	0.00
R1918:Or6c2	UTSW	10	129,362,918 (GRCm39)	missense	probably damaging	0.99
R1919:Or6c2	UTSW	10	129,362,918 (GRCm39)	missense	probably damaging	0.99
R2303:Or6c2	UTSW	10	129,362,918 (GRCm39)	missense	probably benign	0.10
R3113:Or6c2	UTSW	10	129,363,012 (GRCm39)	missense	probably benign	0.08
R3929:Or6c2	UTSW	10	129,362,100 (GRCm39)	start codon destroyed	probably null	1.00
R4704:Or6c2	UTSW	10	129,362,171 (GRCm39)	missense	possibly damaging	0.90
R4831:Or6c2	UTSW	10	129,362,449 (GRCm39)	missense	probably damaging	1.00
R5207:Or6c2	UTSW	10	129,362,773 (GRCm39)	missense	probably benign	0.08
R5313:Or6c2	UTSW	10	129,362,950 (GRCm39)	missense	probably damaging	1.00
R5644:Or6c2	UTSW	10	129,362,972 (GRCm39)	missense	probably damaging	1.00
R5661:Or6c2	UTSW	10	129,362,618 (GRCm39)	missense	probably benign	0.45
R5894:Or6c2	UTSW	10	129,362,357 (GRCm39)	missense	probably damaging	0.98
R6988:Or6c2	UTSW	10	129,362,542 (GRCm39)	missense	probably benign	0.02
R6996:Or6c2	UTSW	10	129,362,732 (GRCm39)	missense	probably damaging	1.00
R7380:Or6c2	UTSW	10	129,362,530 (GRCm39)	missense	probably benign
R7539:Or6c2	UTSW	10	129,362,974 (GRCm39)	nonsense	probably null
R7552:Or6c2	UTSW	10	129,362,429 (GRCm39)	missense	possibly damaging	0.95
R7635:Or6c2	UTSW	10	129,362,551 (GRCm39)	missense	probably benign	0.00
R8084:Or6c2	UTSW	10	129,362,809 (GRCm39)	missense	probably damaging	1.00
R8260:Or6c2	UTSW	10	129,362,957 (GRCm39)	missense	possibly damaging	0.55
R8755:Or6c2	UTSW	10	129,362,332 (GRCm39)	missense	possibly damaging	0.60
X0066:Or6c2	UTSW	10	129,362,614 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTTGTGGCTGTCTTTGCAC -3'
(R):5'- AGGTTTCCATATGACATGCCAC -3'

Sequencing Primer
(F):5'- GCACTCATTATTACCCTAATCTGTG -3'
(R):5'- AGTTCCATAAGGATAATATCTGGGTG -3'

Posted On

2014-07-14