Mutagenetix > Incidental Mutation

Incidental Mutation 'R0374:Or6c6c'

38528

Institutional Source

Beutler Lab

Gene Symbol

Or6c6c

Ensembl Gene

ENSMUSG00000095401

Gene Name

olfactory receptor family 6 subfamily C member 6C

Synonyms

GA_x6K02T2PULF-11383575-11384519, MOR110-7, Olfr804

MMRRC Submission

038580-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R0374 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129540749-129541693 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 129541516 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 256 (M256I)

Ref Sequence

ENSEMBL: ENSMUSP00000150132 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077312] [ENSMUST00000213331]

AlphaFold

Q7TRH7

Predicted Effect

probably benign
Transcript: ENSMUST00000077312
AA Change: M256I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000076540
Gene: ENSMUSG00000095401
AA Change: M256I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	6e-48	PFAM
Pfam:7tm_1	39	288	3.3e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213331
AA Change: M256I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216747

Meta Mutation Damage Score

0.1498

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.9%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano9	A	G	7: 140,687,727 (GRCm39)	I267T	probably damaging	Het
Anxa6	T	A	11: 54,896,654 (GRCm39)	N168I	probably benign	Het
Apbb1ip	A	G	2: 22,709,717 (GRCm39)		probably benign	Het
Aqr	G	A	2: 113,961,092 (GRCm39)	H723Y	probably damaging	Het
Bbx	C	T	16: 50,100,755 (GRCm39)	E47K	probably benign	Het
Car13	A	G	3: 14,721,357 (GRCm39)		probably benign	Het
Casp9	T	A	4: 141,534,484 (GRCm39)	I298N	possibly damaging	Het
Ccdc66	T	C	14: 27,220,430 (GRCm39)	E261G	probably damaging	Het
Cep192	T	A	18: 67,951,954 (GRCm39)	Y376*	probably null	Het
Cped1	T	A	6: 22,222,545 (GRCm39)		probably benign	Het
Ctbp2	A	T	7: 132,601,073 (GRCm39)	S563R	possibly damaging	Het
Ctdp1	A	G	18: 80,490,637 (GRCm39)		probably null	Het
Dgka	G	C	10: 128,556,952 (GRCm39)		probably benign	Het
Drd2	A	G	9: 49,311,084 (GRCm39)	T112A	probably benign	Het
Dusp1	A	G	17: 26,727,143 (GRCm39)	V52A	probably damaging	Het
Eea1	T	A	10: 95,875,634 (GRCm39)		probably benign	Het
Etfrf1	T	C	6: 145,161,288 (GRCm39)	V86A	probably benign	Het
Fbn1	A	T	2: 125,163,596 (GRCm39)	C2087S	possibly damaging	Het
Fosb	T	G	7: 19,041,075 (GRCm39)	R139S	probably damaging	Het
Foxm1	C	T	6: 128,349,566 (GRCm39)	R362W	probably damaging	Het
Frem2	A	G	3: 53,561,381 (GRCm39)	V1042A	probably damaging	Het
Gbe1	A	G	16: 70,280,802 (GRCm39)	H401R	probably benign	Het
Gm10549	C	T	18: 33,597,235 (GRCm39)		probably benign	Het
Golga7b	A	T	19: 42,251,758 (GRCm39)		probably benign	Het
H2-DMb1	T	C	17: 34,378,399 (GRCm39)	V235A	probably benign	Het
Hr	A	G	14: 70,793,916 (GRCm39)	T59A	probably benign	Het
Itpr2	C	A	6: 146,260,890 (GRCm39)	A588S	probably benign	Het
Kmt2c	G	A	5: 25,514,706 (GRCm39)	P3046S	probably damaging	Het
Lamc1	G	A	1: 153,126,811 (GRCm39)		probably benign	Het
Lrp2	A	G	2: 69,260,651 (GRCm39)	Y4527H	probably damaging	Het
Map3k2	G	A	18: 32,345,226 (GRCm39)		probably null	Het
Mroh2a	C	A	1: 88,170,142 (GRCm39)	A685D	possibly damaging	Het
Nfs1	C	G	2: 155,974,580 (GRCm39)	G212R	probably damaging	Het
Nol8	C	T	13: 49,815,923 (GRCm39)	A677V	possibly damaging	Het
Nrap	T	A	19: 56,340,054 (GRCm39)	Y740F	probably damaging	Het
Nup205	T	A	6: 35,185,772 (GRCm39)	M859K	probably damaging	Het
Nxf1	T	C	19: 8,745,103 (GRCm39)	F451S	possibly damaging	Het
Or5an1c	A	T	19: 12,218,505 (GRCm39)	N173K	probably damaging	Het
Pcdhac2	T	C	18: 37,278,720 (GRCm39)	Y567H	probably damaging	Het
Phlpp2	C	T	8: 110,634,145 (GRCm39)	R242W	probably damaging	Het
Pi4ka	A	G	16: 17,100,796 (GRCm39)		probably benign	Het
Pmpcb	A	G	5: 21,953,829 (GRCm39)	D359G	probably damaging	Het
Poll	T	G	19: 45,546,309 (GRCm39)	S244R	probably benign	Het
Prkd3	T	C	17: 79,264,644 (GRCm39)	D657G	probably null	Het
Prune2	G	A	19: 17,098,274 (GRCm39)	M1259I	probably benign	Het
Ptpra	T	A	2: 130,379,541 (GRCm39)	M329K	probably damaging	Het
Rbm10	GGGAGGAGGAGGAGGAGGAGGATGAGGAGGAGGAGGAGGAG	GGGAGGAGGAGGAGGAGGATGAGGAGGAGGAGGAGGAG	X: 20,503,798 (GRCm39)		probably benign	Het
Rbm15	G	T	3: 107,237,880 (GRCm39)	D839E	probably damaging	Het
Sap30bp	T	A	11: 115,855,103 (GRCm39)	I271N	probably damaging	Het
Scart2	T	A	7: 139,828,874 (GRCm39)	C178S	probably damaging	Het
Scn3a	A	T	2: 65,338,918 (GRCm39)	V587E	probably damaging	Het
Setdb1	A	T	3: 95,232,164 (GRCm39)		probably benign	Het
Sgk3	T	A	1: 9,949,306 (GRCm39)		probably null	Het
Shox2	A	T	3: 66,881,184 (GRCm39)	H265Q	probably damaging	Het
Slc9a2	T	C	1: 40,783,017 (GRCm39)	F427S	possibly damaging	Het
Smarca5	T	A	8: 81,463,360 (GRCm39)	Q69H	probably benign	Het
Specc1l	T	A	10: 75,084,293 (GRCm39)	F672Y	probably damaging	Het
Ssh2	T	A	11: 77,298,969 (GRCm39)	S105R	probably damaging	Het
Syne2	C	T	12: 75,968,000 (GRCm39)	R917*	probably null	Het
Tbc1d2	G	A	4: 46,649,913 (GRCm39)	T41M	possibly damaging	Het
Tbx18	T	A	9: 87,606,408 (GRCm39)	I246F	probably damaging	Het
Tcf4	T	A	18: 69,814,883 (GRCm39)		probably benign	Het
Tmed2	C	A	5: 124,679,502 (GRCm39)		probably null	Het
Tmem243	A	T	5: 9,151,361 (GRCm39)	D15V	possibly damaging	Het
Vmn2r87	T	A	10: 130,307,848 (GRCm39)	S797C	probably damaging	Het
Vps13c	T	A	9: 67,793,528 (GRCm39)		probably benign	Het
Wls	T	A	3: 159,603,074 (GRCm39)	C162*	probably null	Het
Zbtb7c	C	T	18: 76,270,464 (GRCm39)	T184I	probably benign	Het
Zc3h13	A	G	14: 75,546,405 (GRCm39)	K169E	probably damaging	Het

Other mutations in Or6c6c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01613:Or6c6c	APN	10	129,541,492 (GRCm39)	missense	probably benign	0.01
IGL02041:Or6c6c	APN	10	129,541,104 (GRCm39)	missense	probably damaging	1.00
IGL02245:Or6c6c	APN	10	129,541,608 (GRCm39)	missense	probably damaging	1.00
IGL02341:Or6c6c	APN	10	129,541,358 (GRCm39)	missense	probably damaging	0.99
IGL02433:Or6c6c	APN	10	129,541,445 (GRCm39)	missense	probably benign	0.01
authen	UTSW	10	129,541,668 (GRCm39)	missense	probably benign	0.00
R0111:Or6c6c	UTSW	10	129,541,146 (GRCm39)	missense	probably damaging	1.00
R0309:Or6c6c	UTSW	10	129,541,008 (GRCm39)	missense	probably benign	0.38
R0326:Or6c6c	UTSW	10	129,541,638 (GRCm39)	missense	possibly damaging	0.69
R1573:Or6c6c	UTSW	10	129,541,487 (GRCm39)	missense	probably damaging	1.00
R1663:Or6c6c	UTSW	10	129,541,160 (GRCm39)	missense	probably benign	0.44
R1778:Or6c6c	UTSW	10	129,541,574 (GRCm39)	missense	probably benign	0.01
R1789:Or6c6c	UTSW	10	129,541,476 (GRCm39)	missense	possibly damaging	0.82
R1906:Or6c6c	UTSW	10	129,541,365 (GRCm39)	missense	probably benign	0.00
R2108:Or6c6c	UTSW	10	129,541,490 (GRCm39)	missense	probably benign
R2211:Or6c6c	UTSW	10	129,541,320 (GRCm39)	missense	probably benign
R2432:Or6c6c	UTSW	10	129,540,794 (GRCm39)	missense	possibly damaging	0.91
R2902:Or6c6c	UTSW	10	129,541,320 (GRCm39)	missense	probably benign
R4114:Or6c6c	UTSW	10	129,541,668 (GRCm39)	missense	probably benign	0.00
R5149:Or6c6c	UTSW	10	129,541,377 (GRCm39)	missense	probably benign	0.00
R5153:Or6c6c	UTSW	10	129,541,026 (GRCm39)	missense	probably benign	0.05
R5846:Or6c6c	UTSW	10	129,540,756 (GRCm39)	missense	probably damaging	0.99
R6553:Or6c6c	UTSW	10	129,540,932 (GRCm39)	missense	probably benign	0.07
R7676:Or6c6c	UTSW	10	129,541,155 (GRCm39)	missense	possibly damaging	0.63
R8161:Or6c6c	UTSW	10	129,540,753 (GRCm39)	missense	possibly damaging	0.94
R9266:Or6c6c	UTSW	10	129,541,547 (GRCm39)	missense	probably benign	0.17
R9318:Or6c6c	UTSW	10	129,541,283 (GRCm39)	missense	probably benign	0.00
R9334:Or6c6c	UTSW	10	129,541,683 (GRCm39)	missense	probably benign	0.00
R9746:Or6c6c	UTSW	10	129,541,208 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AAAGTGTGCCACCAACTCGTCC -3'
(R):5'- GGAACGGAGTTACAGGGTTCTTCAG -3'

Sequencing Primer
(F):5'- ATTTTACAGATCTCCTGCACAGAC -3'
(R):5'- ACAGGGTTCTTCAGAAGCATC -3'

Posted On

2013-05-23