Mutagenetix > Incidental Mutation

Incidental Mutation 'R1165:Or6c76'

100954

Institutional Source

Beutler Lab

Gene Symbol

Or6c76

Ensembl Gene

ENSMUSG00000050251

Gene Name

olfactory receptor family 6 subfamily C member 76

Synonyms

GA_x6K02T2PULF-11454600-11455541, Olfr809, MOR108-4

MMRRC Submission

039238-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R1165 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129611740-129612726 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129612302 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 188 (D188G)

Ref Sequence

ENSEMBL: ENSMUSP00000151711 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059891] [ENSMUST00000203236] [ENSMUST00000203598] [ENSMUST00000204622] [ENSMUST00000218237]

AlphaFold

Q8VEX8

Predicted Effect

probably damaging
Transcript: ENSMUST00000059891
AA Change: D173G

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000054949
Gene: ENSMUSG00000050251
AA Change: D173G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	44	321	3.5e-49	PFAM
Pfam:7tm_1	54	303	1.3e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203236

SMART Domains

Protein: ENSMUSP00000145315
Gene: ENSMUSG00000049894

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	308	1.8e-53	PFAM
Pfam:7tm_1	39	288	7.7e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203598

SMART Domains

Protein: ENSMUSP00000145037
Gene: ENSMUSG00000050251

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	148	8.1e-20	PFAM
Pfam:7tm_1	39	149	1.8e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204622
AA Change: D188G

SMART Domains

Protein: ENSMUSP00000145260
Gene: ENSMUSG00000052818
AA Change: D188G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	44	321	3.5e-49	PFAM
Pfam:7tm_1	54	303	1.3e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000218237
AA Change: D188G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Meta Mutation Damage Score

0.5123

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.4%

Validation Efficiency

98% (50/51)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	G	13: 77,482,406 (GRCm39)	C1209G	probably benign	Het
Abcg2	C	A	6: 58,655,285 (GRCm39)	L407I	probably benign	Het
Adtrp	A	G	13: 41,967,779 (GRCm39)	V56A	probably damaging	Het
Angptl6	T	G	9: 20,789,604 (GRCm39)	N96T	probably benign	Het
Ank3	C	A	10: 69,734,132 (GRCm39)	N780K	possibly damaging	Het
AU040320	A	T	4: 126,717,433 (GRCm39)		probably benign	Het
Best2	C	T	8: 85,737,789 (GRCm39)	R202H	probably benign	Het
Bod1l	A	T	5: 41,978,396 (GRCm39)	S973T	probably benign	Het
Brca2	T	A	5: 150,466,212 (GRCm39)	V1992E	probably damaging	Het
Casp8ap2	C	T	4: 32,640,563 (GRCm39)	P539L	probably benign	Het
Ccr1	A	T	9: 123,763,531 (GRCm39)	V333E	possibly damaging	Het
Celf5	A	T	10: 81,307,172 (GRCm39)	V83E	probably damaging	Het
Col15a1	T	C	4: 47,257,275 (GRCm39)		probably benign	Het
Coro1b	C	A	19: 4,199,901 (GRCm39)	H81N	probably damaging	Het
Cwc22	A	T	2: 77,734,242 (GRCm39)	S686T	probably damaging	Het
Cyp2d26	C	A	15: 82,678,242 (GRCm39)	G45W	probably damaging	Het
Dysf	T	A	6: 84,044,051 (GRCm39)	N297K	probably damaging	Het
Edem1	T	A	6: 108,828,214 (GRCm39)	L513Q	probably damaging	Het
Erich1	G	A	8: 14,140,530 (GRCm39)		probably benign	Het
Fam91a1	T	C	15: 58,302,518 (GRCm39)	V286A	possibly damaging	Het
Fdxr	C	A	11: 115,162,608 (GRCm39)		probably benign	Het
Gas7	T	C	11: 67,561,512 (GRCm39)		probably benign	Het
Glb1l2	T	C	9: 26,705,397 (GRCm39)	D151G	probably damaging	Het
Gm14410	A	C	2: 176,885,282 (GRCm39)	Y327*	probably null	Het
Grep1	A	C	17: 23,929,489 (GRCm39)		probably benign	Het
H6pd	A	G	4: 150,080,413 (GRCm39)	I136T	possibly damaging	Het
Hectd1	A	T	12: 51,810,947 (GRCm39)		probably benign	Het
Hipk1	T	C	3: 103,668,840 (GRCm39)	T519A	possibly damaging	Het
Hpd	A	G	5: 123,314,153 (GRCm39)		probably null	Het
Insyn2b	A	G	11: 34,352,740 (GRCm39)	T261A	probably benign	Het
Or7c19	T	A	8: 85,957,400 (GRCm39)	I92N	probably damaging	Het
Pcdha11	A	G	18: 37,140,757 (GRCm39)		probably benign	Het
Pdgfrb	T	C	18: 61,197,074 (GRCm39)	I170T	probably benign	Het
Rasgrp1	A	T	2: 117,115,420 (GRCm39)	F723I	possibly damaging	Het
Retnlg	A	G	16: 48,694,017 (GRCm39)	T58A	possibly damaging	Het
Rrs1	G	A	1: 9,615,992 (GRCm39)	E82K	probably damaging	Het
Rtel1	A	G	2: 180,976,732 (GRCm39)	K243E	probably benign	Het
Slc19a2	G	A	1: 164,091,014 (GRCm39)	G274D	probably damaging	Het
Slc22a27	T	C	19: 7,887,059 (GRCm39)		probably null	Het
Slc6a1	T	C	6: 114,288,790 (GRCm39)	F266L	probably damaging	Het
Snx25	T	G	8: 46,488,752 (GRCm39)	I868L	probably damaging	Het
Spag16	A	G	1: 70,036,036 (GRCm39)	I355V	probably benign	Het
Tmem198	A	T	1: 75,456,576 (GRCm39)		probably benign	Het
Traf3ip3	A	C	1: 192,866,786 (GRCm39)	S349A	probably damaging	Het
Trim17	A	G	11: 58,862,041 (GRCm39)	N358D	possibly damaging	Het
Trmu	A	G	15: 85,776,875 (GRCm39)	T196A	probably damaging	Het
Tsen2	A	G	6: 115,538,396 (GRCm39)	Y291C	probably damaging	Het
Vps13d	A	G	4: 144,853,041 (GRCm39)	F2358L	probably benign	Het
Wnt2	T	C	6: 17,989,946 (GRCm39)	H317R	probably benign	Het
Zfp120	A	T	2: 149,961,849 (GRCm39)	V33E	probably damaging	Het
Zfp407	C	T	18: 84,577,898 (GRCm39)	A1072T	probably benign	Het

Other mutations in Or6c76

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01884:Or6c76	APN	10	129,612,697 (GRCm39)	missense	probably benign	0.34
IGL02000:Or6c76	APN	10	129,611,938 (GRCm39)	missense	probably benign	0.03
IGL02146:Or6c76	APN	10	129,612,727 (GRCm39)	utr 3 prime	probably benign
IGL03087:Or6c76	APN	10	129,612,130 (GRCm39)	missense	probably damaging	0.98
IGL03260:Or6c76	APN	10	129,612,521 (GRCm39)	missense	probably damaging	1.00
G1Funyon:Or6c76	UTSW	10	129,612,709 (GRCm39)	missense	probably benign	0.06
PIT4466001:Or6c76	UTSW	10	129,612,142 (GRCm39)	missense	probably benign	0.04
R0564:Or6c76	UTSW	10	129,612,005 (GRCm39)	missense	probably damaging	1.00
R0613:Or6c76	UTSW	10	129,612,131 (GRCm39)	missense	probably damaging	1.00
R1556:Or6c76	UTSW	10	129,612,242 (GRCm39)	missense	probably benign	0.05
R5392:Or6c76	UTSW	10	129,612,184 (GRCm39)	missense	probably benign	0.01
R6665:Or6c76	UTSW	10	129,612,116 (GRCm39)	missense	probably damaging	1.00
R7519:Or6c76	UTSW	10	129,612,091 (GRCm39)	missense	probably benign	0.01
R7804:Or6c76	UTSW	10	129,612,091 (GRCm39)	missense	probably benign	0.01
R8022:Or6c76	UTSW	10	129,612,654 (GRCm39)	missense	possibly damaging	0.47
R8301:Or6c76	UTSW	10	129,612,709 (GRCm39)	missense	probably benign	0.06
R8447:Or6c76	UTSW	10	129,612,371 (GRCm39)	missense	possibly damaging	0.89
R9104:Or6c76	UTSW	10	129,612,521 (GRCm39)	missense	probably damaging	1.00
R9216:Or6c76	UTSW	10	129,611,796 (GRCm39)	missense	probably benign
R9679:Or6c76	UTSW	10	129,611,882 (GRCm39)	missense	probably damaging	1.00
R9720:Or6c76	UTSW	10	129,612,581 (GRCm39)	missense	probably benign	0.07
Z1176:Or6c76	UTSW	10	129,611,911 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2014-01-15