Mutagenetix > Incidental Mutation

Incidental Mutation 'R1494:Or6c8'

163823

Institutional Source

Beutler Lab

Gene Symbol

Or6c8

Ensembl Gene

ENSMUSG00000059762

Gene Name

olfactory receptor family 6 subfamily C member 8

Synonyms

Olfr767, MOR115-1, GA_x6K02T2PULF-10765431-10764502

MMRRC Submission

039545-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R1494 (G1)

Quality Score

216

Status

Validated

Chromosome

Chromosomal Location

128914901-128915830 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 128915484 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 116 (M116K)

Ref Sequence

ENSEMBL: ENSMUSP00000150151 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082131] [ENSMUST00000213579]

AlphaFold

Q8VG33

Predicted Effect

probably damaging
Transcript: ENSMUST00000082131
AA Change: M116K

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

SMART Domains

Protein: ENSMUSP00000080775
Gene: ENSMUSG00000059762
AA Change: M116K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	1.9e-49	PFAM
Pfam:7tm_1	39	288	3.6e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213579
AA Change: M116K

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

Meta Mutation Damage Score

0.5288

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 91.3%

Validation Efficiency

97% (57/59)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	A	G	17: 48,400,991 (GRCm39)	E92G	probably benign	Het
Abca13	C	T	11: 9,416,429 (GRCm39)	Q4064*	probably null	Het
Abca14	G	A	7: 119,815,524 (GRCm39)	M257I	probably benign	Het
Acsm2	T	A	7: 119,174,855 (GRCm39)	C207S	probably damaging	Het
Actr3	A	G	1: 125,344,018 (GRCm39)	I67T	probably benign	Het
Adcy7	T	C	8: 89,046,835 (GRCm39)	V606A	probably benign	Het
Ahnak2	G	A	12: 112,751,570 (GRCm39)	S54F	probably damaging	Het
Ano6	T	C	15: 95,870,388 (GRCm39)	S848P	probably damaging	Het
Atg3	C	T	16: 44,992,123 (GRCm39)		probably benign	Het
Atp8b1	T	A	18: 64,697,597 (GRCm39)	S416C	probably damaging	Het
C2cd5	A	G	6: 142,987,072 (GRCm39)		probably benign	Het
Capn11	A	T	17: 45,954,735 (GRCm39)	V134E	probably damaging	Het
Ccnd3	A	G	17: 47,909,033 (GRCm39)		probably null	Het
Chaf1b	T	A	16: 93,684,998 (GRCm39)	V149E	probably damaging	Het
Col5a2	T	A	1: 45,542,074 (GRCm39)	M1L	unknown	Het
Copa	T	C	1: 171,931,694 (GRCm39)	I315T	probably benign	Het
Cyp3a57	A	G	5: 145,318,077 (GRCm39)	M353V	probably damaging	Het
Dcaf6	T	C	1: 165,160,942 (GRCm39)	M828V	probably damaging	Het
Dock2	T	A	11: 34,232,761 (GRCm39)	K1080*	probably null	Het
Dock6	A	G	9: 21,726,038 (GRCm39)	V1424A	probably benign	Het
Foxa1	T	C	12: 57,588,984 (GRCm39)	D412G	probably damaging	Het
Foxp4	G	C	17: 48,191,278 (GRCm39)		probably benign	Het
Galnt9	T	A	5: 110,736,196 (GRCm39)	S171T	probably damaging	Het
Glt6d1	A	G	2: 25,684,260 (GRCm39)	Y249H	probably damaging	Het
Gm37240	A	T	3: 84,434,998 (GRCm39)	Y104N	probably damaging	Het
Gpx8	C	T	13: 113,182,149 (GRCm39)	E95K	possibly damaging	Het
Grm1	T	C	10: 10,565,450 (GRCm39)	T953A	probably benign	Het
Helz	T	C	11: 107,494,889 (GRCm39)		probably benign	Het
Hif3a	T	C	7: 16,788,647 (GRCm39)	Y108C	probably damaging	Het
Kcnj13	A	T	1: 87,316,939 (GRCm39)	L58Q	probably damaging	Het
Mfsd14b	A	T	13: 65,243,485 (GRCm39)	V53D	probably damaging	Het
Mrps7	G	C	11: 115,494,952 (GRCm39)		probably benign	Het
Mug1	G	A	6: 121,856,259 (GRCm39)	G1013D	probably damaging	Het
Or52h7	T	A	7: 104,214,038 (GRCm39)	Y203*	probably null	Het
Pax6	T	C	2: 105,521,955 (GRCm39)	I19T	probably benign	Het
Pde8b	G	A	13: 95,184,304 (GRCm39)	R416C	probably damaging	Het
Prl2c2	G	C	13: 13,176,786 (GRCm39)	T47R	probably damaging	Het
Pygl	G	A	12: 70,246,504 (GRCm39)	R348W	probably damaging	Het
Ralgapa1	T	A	12: 55,731,309 (GRCm39)	D1874V	probably damaging	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Sncaip	T	C	18: 53,001,958 (GRCm39)	S160P	probably damaging	Het
Sptbn4	A	G	7: 27,133,719 (GRCm39)	V79A	probably damaging	Het
Sptlc3	A	T	2: 139,431,480 (GRCm39)	Y334F	possibly damaging	Het
Supt16	A	G	14: 52,409,916 (GRCm39)	Y764H	probably benign	Het
Syne3	A	T	12: 104,921,841 (GRCm39)	V438E	possibly damaging	Het
Tagap1	T	C	17: 7,224,210 (GRCm39)	D162G	probably damaging	Het
Terb1	T	C	8: 105,225,122 (GRCm39)		probably benign	Het
Themis3	C	A	17: 66,866,949 (GRCm39)	R97L	probably benign	Het
Tnk1	T	A	11: 69,747,372 (GRCm39)	E86D	possibly damaging	Het
Tnpo3	A	G	6: 29,557,043 (GRCm39)	L53P	probably damaging	Het
Trpc6	G	A	9: 8,658,305 (GRCm39)	R725K	probably benign	Het
Ttll11	T	G	2: 35,685,391 (GRCm39)	T566P	probably damaging	Het
Unc5c	A	T	3: 141,533,310 (GRCm39)	T779S	possibly damaging	Het
Zfp42	A	G	8: 43,748,638 (GRCm39)	C288R	possibly damaging	Het
Zfp763	G	A	17: 33,240,477 (GRCm39)	T52I	probably damaging	Het

Other mutations in Or6c8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01784:Or6c8	APN	10	128,915,224 (GRCm39)	missense	probably benign	0.13
IGL01945:Or6c8	APN	10	128,915,172 (GRCm39)	missense	probably damaging	1.00
IGL02341:Or6c8	APN	10	128,915,330 (GRCm39)	nonsense	probably null
IGL02389:Or6c8	APN	10	128,915,099 (GRCm39)	missense	probably damaging	0.97
IGL02516:Or6c8	APN	10	128,915,662 (GRCm39)	missense	possibly damaging	0.95
IGL02755:Or6c8	APN	10	128,915,065 (GRCm39)	missense	probably benign	0.00
R0145:Or6c8	UTSW	10	128,915,232 (GRCm39)	missense	probably damaging	0.97
R0453:Or6c8	UTSW	10	128,915,640 (GRCm39)	missense	probably damaging	0.97
R0578:Or6c8	UTSW	10	128,915,062 (GRCm39)	missense	probably damaging	1.00
R1034:Or6c8	UTSW	10	128,915,830 (GRCm39)	start codon destroyed	probably benign	0.43
R1941:Or6c8	UTSW	10	128,915,823 (GRCm39)	missense	probably damaging	0.99
R3707:Or6c8	UTSW	10	128,915,254 (GRCm39)	missense	probably benign	0.31
R5405:Or6c8	UTSW	10	128,915,265 (GRCm39)	missense	probably damaging	0.99
R5716:Or6c8	UTSW	10	128,915,424 (GRCm39)	missense	probably benign	0.00
R8224:Or6c8	UTSW	10	128,915,304 (GRCm39)	missense	possibly damaging	0.90
R9680:Or6c8	UTSW	10	128,915,358 (GRCm39)	missense	probably benign	0.02
Z1177:Or6c8	UTSW	10	128,915,921 (GRCm39)	critical splice acceptor site	probably benign

Predicted Primers

PCR Primer
(F):5'- TTAGAGTCACCACCAGGGTCACAG -3'
(R):5'- TGGAAACCTGACCATCCTCATCCTC -3'

Sequencing Primer
(F):5'- TCAATGAGGCTTGTGTCAGAAC -3'
(R):5'- ACCCTGCTGGATTCGCAC -3'

Posted On

2014-03-28