Mutagenetix > Incidental Mutation

Incidental Mutation 'R8084:Or6c2'

629532

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

067517-MU

Accession Numbers

Essential gene?

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

Stock #

R8084 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129362098-129363036 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 129362809 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 238 (T238S)

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: T238S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000052722
Gene: ENSMUSG00000047626
AA Change: T238S

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: T238S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 98.9%
20x: 96.2%

Validation Efficiency

100% (75/75)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	T	A	2: 25,323,979 (GRCm39)	Y190N	probably benign	Het
Acsl3	G	A	1: 78,669,844 (GRCm39)	D238N	probably damaging	Het
Acss1	T	A	2: 150,484,701 (GRCm39)	I181F	probably damaging	Het
Ano5	A	G	7: 51,229,287 (GRCm39)	I610V	probably benign	Het
Anxa6	A	T	11: 54,894,834 (GRCm39)	F256I	probably damaging	Het
Ash2l	A	G	8: 26,321,322 (GRCm39)	S273P	probably benign	Het
Baz2b	T	G	2: 59,792,580 (GRCm39)	E516A	probably benign	Het
Bbs2	G	T	8: 94,814,056 (GRCm39)	D187E	probably damaging	Het
Cacna1b	T	A	2: 24,575,808 (GRCm39)	M747L	probably benign	Het
Cacna2d4	C	A	6: 119,277,313 (GRCm39)	D675E	probably damaging	Het
Calcr	G	A	6: 3,687,615 (GRCm39)	T461M	probably benign	Het
Catip	A	G	1: 74,403,515 (GRCm39)	K126E	probably damaging	Het
Chga	T	C	12: 102,528,328 (GRCm39)	I273T	probably benign	Het
Clasp2	G	A	9: 113,676,823 (GRCm39)	V185I	probably benign	Het
Cracr2a	A	G	6: 127,616,135 (GRCm39)	N370S	probably benign	Het
Crygc	A	T	1: 65,110,981 (GRCm39)	V102D	probably benign	Het
Ddx23	A	G	15: 98,556,145 (GRCm39)	S58P	unknown	Het
Dlgap5	C	T	14: 47,645,298 (GRCm39)	G281D	probably benign	Het
Dnah5	A	T	15: 28,388,099 (GRCm39)	Y3186F	probably damaging	Het
Dpp6	A	C	5: 27,836,397 (GRCm39)	I296L	probably benign	Het
Elfn2	C	T	15: 78,556,660 (GRCm39)	R629H	probably damaging	Het
Eml2	G	T	7: 18,915,149 (GRCm39)		probably null	Het
Fitm1	T	A	14: 55,813,906 (GRCm39)	V134E	probably damaging	Het
Flnb	A	G	14: 7,907,243 (GRCm38)	N1272S	probably benign	Het
Fuca1	G	A	4: 135,662,114 (GRCm39)	W347*	probably null	Het
Gabbr2	C	T	4: 46,736,349 (GRCm39)		probably null	Het
Gls2	G	A	10: 128,035,125 (GRCm39)	R86H	probably damaging	Het
Grin2b	T	C	6: 135,710,486 (GRCm39)	K1020R	probably benign	Het
H2-DMb1	T	A	17: 34,376,327 (GRCm39)	W149R	probably damaging	Het
Herc1	T	A	9: 66,383,217 (GRCm39)	S3629R	probably benign	Het
Itih4	A	T	14: 30,621,400 (GRCm39)	N821I	possibly damaging	Het
Kmt2d	A	T	15: 98,739,945 (GRCm39)	L4731Q	unknown	Het
Loxhd1	A	T	18: 77,427,845 (GRCm39)	I472F	possibly damaging	Het
Lrp2	C	A	2: 69,339,713 (GRCm39)	C1066F	probably damaging	Het
Mllt10	T	A	2: 18,114,637 (GRCm39)	F114I	probably damaging	Het
N4bp1	T	C	8: 87,587,636 (GRCm39)	E434G	probably benign	Het
N6amt1	T	C	16: 87,151,228 (GRCm39)	F30L	probably damaging	Het
Naca	G	A	10: 127,877,400 (GRCm39)	V811I	unknown	Het
Nobox	A	C	6: 43,282,101 (GRCm39)	I324S	possibly damaging	Het
Nup210l	T	C	3: 90,043,365 (GRCm39)	S442P	probably benign	Het
Osbpl1a	A	T	18: 13,038,099 (GRCm39)	L284Q	probably damaging	Het
Pals1	A	T	12: 78,867,625 (GRCm39)	Q336L	probably benign	Het
Pcdhb20	A	C	18: 37,639,226 (GRCm39)	Y584S	possibly damaging	Het
Pgpep1l	A	T	7: 67,887,519 (GRCm39)	F27Y	probably benign	Het
Pik3cg	T	G	12: 32,245,687 (GRCm39)	I854L	probably benign	Het
Pot1a	C	T	6: 25,771,535 (GRCm39)	V229M	possibly damaging	Het
Prh1	C	T	6: 132,548,822 (GRCm39)	P110S	unknown	Het
Prkag3	C	T	1: 74,786,366 (GRCm39)	C193Y	probably damaging	Het
Prl2c5	T	C	13: 13,360,539 (GRCm39)	F69L	probably benign	Het
Ptprq	T	C	10: 107,444,294 (GRCm39)	T1437A	probably benign	Het
Rabgap1	T	C	2: 37,427,317 (GRCm39)	Y633H	probably damaging	Het
Rad54l2	G	A	9: 106,590,701 (GRCm39)	T475I	possibly damaging	Het
Retreg1	C	A	15: 25,969,885 (GRCm39)	A130E	probably benign	Het
Rps6kb1	G	T	11: 86,426,262 (GRCm39)	H56N	probably benign	Het
Sars2	A	G	7: 28,449,710 (GRCm39)	H385R	probably damaging	Het
Sbpl	T	G	17: 24,172,244 (GRCm39)	N225T	unknown	Het
Scml4	T	C	10: 42,806,602 (GRCm39)		probably null	Het
Scrib	G	A	15: 75,937,940 (GRCm39)	T302M	probably benign	Het
Sdk2	G	A	11: 113,717,915 (GRCm39)	T1483I	possibly damaging	Het
Sh3bgrl3	A	G	4: 133,855,390 (GRCm39)	S19P	probably damaging	Het
Slc10a6	C	T	5: 103,760,327 (GRCm39)	V223I	probably benign	Het
Slc4a3	A	G	1: 75,532,589 (GRCm39)	T950A	probably benign	Het
Spats2	A	T	15: 99,064,961 (GRCm39)	D9V	possibly damaging	Het
Sphk1	A	T	11: 116,425,904 (GRCm39)		probably null	Het
Tex10	A	T	4: 48,431,066 (GRCm39)	S897R	probably benign	Het
Tmco3	T	C	8: 13,353,873 (GRCm39)	V395A	probably damaging	Het
Ttc7b	A	G	12: 100,350,432 (GRCm39)	L478P	probably damaging	Het
Ubac2	T	C	14: 122,220,717 (GRCm39)	M184T	probably benign	Het
Wdr95	T	C	5: 149,511,598 (GRCm39)	S433P	probably damaging	Het
Zfp202	T	A	9: 40,122,538 (GRCm39)	H433Q	probably benign	Het
Zfp526	G	T	7: 24,924,737 (GRCm39)	R332L	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
R1917:Or6c2	UTSW	10	129,362,918 (GRCm39)	missense	probably damaging	0.99
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
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'- TCTGTGACTCCAATGCCATTGATC -3'
(R):5'- AAAGCCTGTTTCACTTGCTTG -3'

Sequencing Primer
(F):5'- TGATGCAGGTCCCCTTCTGAAG -3'
(R):5'- TTGTTCCTTAAGGTATAAATGAAGGG -3'

Posted On

2020-06-30