Mutagenetix > Incidental Mutation

Incidental Mutation 'R0111:Or6c6c'

208405

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

038397-MU

Accession Numbers

Essential gene?

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

Stock #

R0111 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

129540749-129541693 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129541146 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 133 (I133N)

Ref Sequence

ENSEMBL: ENSMUSP00000150132 (fasta)

Gene Model

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

AlphaFold

Q7TRH7

Predicted Effect

probably damaging
Transcript: ENSMUST00000077312
AA Change: I133N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000076540
Gene: ENSMUSG00000095401
AA Change: I133N

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 damaging
Transcript: ENSMUST00000213331
AA Change: I133N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216747

Meta Mutation Damage Score

0.1793

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.2%
20x: 92.8%

Validation Efficiency

100% (65/65)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre4	A	T	17: 56,124,073 (GRCm39)	H491L	possibly damaging	Het
Adgrg3	T	C	8: 95,761,738 (GRCm39)		probably benign	Het
Arhgap5	T	C	12: 52,606,743 (GRCm39)		probably benign	Het
Asic1	T	C	15: 99,594,864 (GRCm39)	Y334H	probably damaging	Het
Calcr	T	A	6: 3,717,157 (GRCm39)	D101V	probably damaging	Het
Cdh2	A	T	18: 16,907,566 (GRCm39)	N57K	probably benign	Het
Clec4d	C	A	6: 123,245,006 (GRCm39)	Y95*	probably null	Het
Cracr2a	A	G	6: 127,581,024 (GRCm39)	T67A	probably benign	Het
Dennd5a	A	T	7: 109,533,961 (GRCm39)	V53D	probably damaging	Het
Dnah7a	T	C	1: 53,507,843 (GRCm39)	D3076G	probably benign	Het
Espnl	T	C	1: 91,272,464 (GRCm39)	M608T	probably benign	Het
Fam149a	C	T	8: 45,794,183 (GRCm39)		probably benign	Het
Flnc	T	C	6: 29,454,339 (GRCm39)	V1884A	probably damaging	Het
Helz2	A	C	2: 180,879,595 (GRCm39)	S674R	probably benign	Het
Hoxa2	T	G	6: 52,141,467 (GRCm39)		probably null	Het
Ifi47	T	A	11: 48,986,897 (GRCm39)	N221K	probably damaging	Het
Ipo9	A	G	1: 135,333,662 (GRCm39)	V340A	probably damaging	Het
Kalrn	A	T	16: 33,851,960 (GRCm39)	N373K	probably damaging	Het
Kif26a	T	C	12: 112,129,771 (GRCm39)		probably benign	Het
Kiss1r	A	G	10: 79,754,523 (GRCm39)	T6A	possibly damaging	Het
Lama1	A	T	17: 68,044,493 (GRCm39)	I131F	probably damaging	Het
Nefm	T	C	14: 68,361,991 (GRCm39)	D91G	probably benign	Het
Nos3	C	T	5: 24,577,702 (GRCm39)	T572I	probably damaging	Het
Notch2	T	C	3: 98,046,077 (GRCm39)	F1710L	probably benign	Het
Or13e8	T	C	4: 43,696,648 (GRCm39)	N175S	probably damaging	Het
Ostm1	T	C	10: 42,555,254 (GRCm39)	L92P	probably damaging	Het
Pcdh15	T	A	10: 74,462,651 (GRCm39)	Y1445*	probably null	Het
Pde1b	T	C	15: 103,411,940 (GRCm39)	S14P	probably benign	Het
Pitpna	T	C	11: 75,516,310 (GRCm39)	V265A	probably benign	Het
Plec	G	T	15: 76,062,846 (GRCm39)	T2476K	probably damaging	Het
Pold2	A	G	11: 5,826,760 (GRCm39)	L58P	probably damaging	Het
Ppp3cc	C	T	14: 70,493,808 (GRCm39)		probably null	Het
Prss36	A	G	7: 127,533,717 (GRCm39)	L530P	probably damaging	Het
Ptpn13	T	C	5: 103,728,629 (GRCm39)		probably benign	Het
Ptpn23	T	C	9: 110,214,691 (GRCm39)	D1570G	probably damaging	Het
Rab42	T	C	4: 132,029,676 (GRCm39)	D182G	possibly damaging	Het
Rbm27	T	A	18: 42,438,737 (GRCm39)		probably benign	Het
Rp1	T	C	1: 4,414,983 (GRCm39)	E2043G	probably damaging	Het
Rufy3	C	T	5: 88,778,443 (GRCm39)	S341F	probably damaging	Het
Samd9l	C	T	6: 3,374,946 (GRCm39)	V772I	possibly damaging	Het
Scaper	A	G	9: 55,510,074 (GRCm39)	M654T	probably benign	Het
Shld2	T	C	14: 33,989,686 (GRCm39)	K407E	probably damaging	Het
Sipa1l3	G	A	7: 29,047,743 (GRCm39)	P333S	probably damaging	Het
Slc30a10	C	A	1: 185,187,744 (GRCm39)	R162S	probably benign	Het
Spryd3	A	T	15: 102,036,972 (GRCm39)		probably null	Het
Tas2r110	T	C	6: 132,845,166 (GRCm39)	F66L	probably benign	Het
Tent5c	T	C	3: 100,380,102 (GRCm39)	D218G	probably damaging	Het
Thap2	T	C	10: 115,208,532 (GRCm39)	N196S	probably benign	Het
Themis2	C	A	4: 132,517,236 (GRCm39)	R88L	probably benign	Het
Trip12	A	T	1: 84,736,854 (GRCm39)		probably benign	Het
Ube3b	T	A	5: 114,528,437 (GRCm39)		probably benign	Het
Usp20	T	A	2: 30,892,624 (GRCm39)	H64Q	probably damaging	Het
Vmn2r100	C	A	17: 19,742,382 (GRCm39)	P252Q	possibly damaging	Het
Vmn2r15	T	C	5: 109,435,022 (GRCm39)	R561G	possibly damaging	Het
Vsig10l	A	G	7: 43,117,525 (GRCm39)	D604G	probably damaging	Het
Wdr90	A	G	17: 26,067,418 (GRCm39)		probably benign	Het
Xirp2	A	T	2: 67,338,722 (GRCm39)	N321I	probably damaging	Het
Zfp595	A	G	13: 67,468,984 (GRCm39)	F11S	possibly damaging	Het
Zfp953	T	A	13: 67,491,139 (GRCm39)	H271L	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
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
R0374:Or6c6c	UTSW	10	129,541,516 (GRCm39)	missense	probably benign	0.00
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'- TTGACAGCCATTGTGACTGGAGAC -3'
(R):5'- ACAGACACTCTCTCCCTTGCAGATG -3'

Sequencing Primer
(F):5'- CCATTGTGACTGGAGACAAAACTG -3'
(R):5'- TGTGACTACAAGTGTCACCACTG -3'

Posted On

2014-06-25