Mutagenetix > Incidental Mutation

Incidental Mutation 'R3771:Or6c69c'

273293

Institutional Source

Beutler Lab

Gene Symbol

Or6c69c

Ensembl Gene

ENSMUSG00000058251

Gene Name

olfactory receptor family 6 subfamily C member 69C

Synonyms

MOR113-2, Olfr822, GA_x6K02T2PULF-11745102-11746040

MMRRC Submission

040747-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R3771 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129910281-129911219 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129911143 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 288 (Y288C)

Ref Sequence

ENSEMBL: ENSMUSP00000150652 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080460] [ENSMUST00000216879]

AlphaFold

Q8VFU1

Predicted Effect

probably damaging
Transcript: ENSMUST00000080460
AA Change: Y288C

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

SMART Domains

Protein: ENSMUSP00000079316
Gene: ENSMUSG00000058251
AA Change: Y288C

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	307	1.1e-49	PFAM
Pfam:7tm_1	39	288	9.3e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216879
AA Change: Y288C

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

99% (69/70)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aanat	G	T	11: 116,487,697 (GRCm39)	G132V	probably damaging	Het
Abcb11	T	A	2: 69,159,720 (GRCm39)		probably benign	Het
Adam26b	T	A	8: 43,973,751 (GRCm39)	D417V	probably damaging	Het
Ank1	T	C	8: 23,613,913 (GRCm39)	S1482P	probably benign	Het
Aoc1l2	T	C	6: 48,908,130 (GRCm39)	Y377H	probably damaging	Het
Armc2	C	T	10: 41,798,223 (GRCm39)	V768M	probably damaging	Het
Ascc3	C	T	10: 50,596,814 (GRCm39)		probably benign	Het
Birc6	T	A	17: 74,925,424 (GRCm39)		probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cdh12	A	T	15: 21,578,640 (GRCm39)		probably benign	Het
Chd1	A	G	17: 17,594,913 (GRCm39)	D16G	probably damaging	Het
Clstn2	A	G	9: 97,464,615 (GRCm39)	I180T	probably damaging	Het
Cxcr6	A	G	9: 123,639,550 (GRCm39)	I184V	probably benign	Het
Dagla	G	A	19: 10,225,831 (GRCm39)	P778S	possibly damaging	Het
Ddx19b	T	C	8: 111,747,613 (GRCm39)	K107R	probably benign	Het
Dpyd	G	A	3: 119,205,927 (GRCm39)		probably null	Het
Elf1	T	C	14: 79,804,650 (GRCm39)	V105A	possibly damaging	Het
Fam13a	T	G	6: 58,964,171 (GRCm39)	K87T	probably benign	Het
Fap	C	A	2: 62,363,354 (GRCm39)	S359I	probably damaging	Het
Fbxo39	T	C	11: 72,208,041 (GRCm39)	I131T	possibly damaging	Het
Fmn1	T	G	2: 113,412,463 (GRCm39)	S996A	probably damaging	Het
Gm5866	T	C	5: 52,740,088 (GRCm39)		noncoding transcript	Het
Hmcn2	C	T	2: 31,250,908 (GRCm39)	T790M	probably damaging	Het
Irf2bp2	T	C	8: 127,318,550 (GRCm39)	K339E	probably damaging	Het
Kat6b	A	G	14: 21,567,166 (GRCm39)	D75G	probably damaging	Het
Kcnab3	A	G	11: 69,219,389 (GRCm39)	T127A	probably damaging	Het
Kdm5b	G	T	1: 134,541,083 (GRCm39)	C725F	probably damaging	Het
Lrp5	G	A	19: 3,662,330 (GRCm39)	R173C	probably damaging	Het
Lrrn3	T	A	12: 41,502,869 (GRCm39)	I483L	probably damaging	Het
Man2c1	C	A	9: 57,047,661 (GRCm39)		probably benign	Het
Med23	G	T	10: 24,778,099 (GRCm39)	G810C	probably damaging	Het
Nhlrc4	T	A	17: 26,162,367 (GRCm39)	K127*	probably null	Het
Numb	T	C	12: 83,846,350 (GRCm39)	D344G	probably damaging	Het
Nup210l	T	G	3: 90,027,201 (GRCm39)	Y194*	probably null	Het
Ogg1	T	C	6: 113,310,804 (GRCm39)	V317A	possibly damaging	Het
Or1o2	T	A	17: 37,542,356 (GRCm39)	I302F	possibly damaging	Het
Pclo	A	T	5: 14,589,422 (GRCm39)		probably null	Het
Pnpt1	T	C	11: 29,088,174 (GRCm39)	M195T	probably benign	Het
Polr3c	T	A	3: 96,633,170 (GRCm39)	T43S	probably damaging	Het
Ptprs	T	C	17: 56,735,978 (GRCm39)	T152A	possibly damaging	Het
Rasl10b	A	T	11: 83,309,349 (GRCm39)	T134S	probably benign	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Rnf39	T	C	17: 37,258,121 (GRCm39)	W96R	probably damaging	Het
Ros1	G	T	10: 52,005,087 (GRCm39)	A949E	probably damaging	Het
Rwdd2a	A	C	9: 86,456,214 (GRCm39)	N130T	possibly damaging	Het
Scn9a	T	C	2: 66,313,992 (GRCm39)	N1909D	probably benign	Het
Shisal1	A	T	15: 84,290,886 (GRCm39)	Y120*	probably null	Het
Ska3	C	T	14: 58,047,534 (GRCm39)	V334I	probably benign	Het
Srebf2	A	G	15: 82,066,309 (GRCm39)	K579R	probably benign	Het
Sun1	A	G	5: 139,224,575 (GRCm39)		probably benign	Het
Tc2n	T	A	12: 101,660,833 (GRCm39)	Q133L	possibly damaging	Het
Tecta	T	C	9: 42,242,292 (GRCm39)	T2094A	probably damaging	Het
Tex2	T	C	11: 106,437,720 (GRCm39)	D650G	unknown	Het
Trio	A	G	15: 27,748,177 (GRCm39)	S2492P	probably damaging	Het
Ttn	T	C	2: 76,601,711 (GRCm39)	T16872A	probably benign	Het
Ugcg	T	C	4: 59,189,690 (GRCm39)	F16S	probably benign	Het
Usp16	T	C	16: 87,255,571 (GRCm39)	M1T	probably null	Het
Vmn1r60	C	A	7: 5,547,710 (GRCm39)	C130F	possibly damaging	Het
Vmn2r101	A	G	17: 19,809,919 (GRCm39)	D235G	probably benign	Het
Vpreb3	A	T	10: 75,775,800 (GRCm39)	V26E	probably benign	Het
Vps39	C	T	2: 120,172,497 (GRCm39)	V179I	possibly damaging	Het
Xrn2	T	C	2: 146,903,207 (GRCm39)	V765A	probably benign	Het
Zfp251	A	G	15: 76,737,836 (GRCm39)	I414T	possibly damaging	Het
Zfp426	A	T	9: 20,384,413 (GRCm39)		probably null	Het
Zfp61	T	C	7: 23,995,406 (GRCm39)	M1V	probably null	Het

Other mutations in Or6c69c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01624:Or6c69c	APN	10	129,910,519 (GRCm39)	missense	probably damaging	1.00
IGL01975:Or6c69c	APN	10	129,911,139 (GRCm39)	missense	probably damaging	1.00
IGL02354:Or6c69c	APN	10	129,911,143 (GRCm39)	missense	probably damaging	1.00
IGL02361:Or6c69c	APN	10	129,911,143 (GRCm39)	missense	probably damaging	1.00
IGL03184:Or6c69c	APN	10	129,910,627 (GRCm39)	missense	possibly damaging	0.82
IGL03197:Or6c69c	APN	10	129,910,548 (GRCm39)	missense	probably damaging	0.99
IGL03343:Or6c69c	APN	10	129,911,125 (GRCm39)	missense	probably damaging	1.00
R0310:Or6c69c	UTSW	10	129,910,692 (GRCm39)	missense	probably benign	0.00
R1288:Or6c69c	UTSW	10	129,911,154 (GRCm39)	missense	probably damaging	1.00
R1502:Or6c69c	UTSW	10	129,910,741 (GRCm39)	missense	probably damaging	0.97
R1527:Or6c69c	UTSW	10	129,911,061 (GRCm39)	missense	probably damaging	1.00
R5022:Or6c69c	UTSW	10	129,910,462 (GRCm39)	missense	probably damaging	1.00
R5472:Or6c69c	UTSW	10	129,910,898 (GRCm39)	missense	probably damaging	0.97
R5552:Or6c69c	UTSW	10	129,911,014 (GRCm39)	missense	probably damaging	0.99
R6451:Or6c69c	UTSW	10	129,911,007 (GRCm39)	missense	probably benign	0.01
R6986:Or6c69c	UTSW	10	129,911,199 (GRCm39)	missense	possibly damaging	0.63
R8101:Or6c69c	UTSW	10	129,910,875 (GRCm39)	missense	probably benign
R8468:Or6c69c	UTSW	10	129,910,303 (GRCm39)	missense	probably benign	0.03
R8785:Or6c69c	UTSW	10	129,910,485 (GRCm39)	missense	probably benign	0.01
R8988:Or6c69c	UTSW	10	129,910,522 (GRCm39)	missense	possibly damaging	0.95
R9083:Or6c69c	UTSW	10	129,910,969 (GRCm39)	missense	probably benign
R9083:Or6c69c	UTSW	10	129,910,941 (GRCm39)	missense	probably benign
R9084:Or6c69c	UTSW	10	129,910,969 (GRCm39)	missense	probably benign
R9084:Or6c69c	UTSW	10	129,910,941 (GRCm39)	missense	probably benign
R9366:Or6c69c	UTSW	10	129,911,067 (GRCm39)	nonsense	probably null
R9773:Or6c69c	UTSW	10	129,910,360 (GRCm39)	missense	possibly damaging	0.65
X0024:Or6c69c	UTSW	10	129,910,594 (GRCm39)	missense	probably damaging	0.99
Z1176:Or6c69c	UTSW	10	129,910,973 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- TTCCTTCAACCAGCCAGAGG -3'
(R):5'- GTTTGATCAATTCCATGTCTTCCAG -3'

Sequencing Primer
(F):5'- GGAAGAAGGCTTTCTCTACATGCTC -3'
(R):5'- ATTTTCTTGGAGATGTGAAAATGAAC -3'

Posted On

2015-03-25