Mutagenetix > Incidental Mutations

Incidental Mutation 'R1165:Olfr809'

100954

Institutional Source

Beutler Lab

Gene Symbol

Olfr809

Ensembl Gene

ENSMUSG00000050251

Gene Name

olfactory receptor 809

Synonyms

MOR108-4, GA_x6K02T2PULF-11454600-11455541

MMRRC Submission

039238-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R1165 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129774638-129778937 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129776433 bp

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]

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
1520401A03Rik	A	C	17: 23,710,515		probably benign	Het
2210408I21Rik	T	G	13: 77,334,287	C1209G	probably benign	Het
Abcg2	C	A	6: 58,678,300	L407I	probably benign	Het
Adtrp	A	G	13: 41,814,303	V56A	probably damaging	Het
Angptl6	T	G	9: 20,878,308	N96T	probably benign	Het
Ank3	C	A	10: 69,898,302	N780K	possibly damaging	Het
AU040320	A	T	4: 126,823,640		probably benign	Het
Best2	C	T	8: 85,011,160	R202H	probably benign	Het
Bod1l	A	T	5: 41,821,053	S973T	probably benign	Het
Brca2	T	A	5: 150,542,747	V1992E	probably damaging	Het
Casp8ap2	C	T	4: 32,640,563	P539L	probably benign	Het
Ccr1	A	T	9: 123,963,494	V333E	possibly damaging	Het
Celf5	A	T	10: 81,471,338	V83E	probably damaging	Het
Col15a1	T	C	4: 47,257,275		probably benign	Het
Coro1b	C	A	19: 4,149,902	H81N	probably damaging	Het
Cwc22	A	T	2: 77,903,898	S686T	probably damaging	Het
Cyp2d26	C	A	15: 82,794,041	G45W	probably damaging	Het
Dysf	T	A	6: 84,067,069	N297K	probably damaging	Het
Edem1	T	A	6: 108,851,253	L513Q	probably damaging	Het
Erich1	G	A	8: 14,090,530		probably benign	Het
Fam196b	A	G	11: 34,402,740	T261A	probably benign	Het
Fam91a1	T	C	15: 58,430,669	V286A	possibly damaging	Het
Fdxr	C	A	11: 115,271,782		probably benign	Het
Gas7	T	C	11: 67,670,686		probably benign	Het
Glb1l2	T	C	9: 26,794,101	D151G	probably damaging	Het
Gm14410	A	C	2: 177,193,489	Y327*	probably null	Het
H6pd	A	G	4: 149,995,956	I136T	possibly damaging	Het
Hectd1	A	T	12: 51,764,164		probably benign	Het
Hipk1	T	C	3: 103,761,524	T519A	possibly damaging	Het
Hpd	A	G	5: 123,176,090		probably null	Het
Olfr371	T	A	8: 85,230,771	I92N	probably damaging	Het
Pcdha11	A	G	18: 37,007,704		probably benign	Het
Pdgfrb	T	C	18: 61,064,002	I170T	probably benign	Het
Rasgrp1	A	T	2: 117,284,939	F723I	possibly damaging	Het
Retnlg	A	G	16: 48,873,654	T58A	possibly damaging	Het
Rrs1	G	A	1: 9,545,767	E82K	probably damaging	Het
Rtel1	A	G	2: 181,334,939	K243E	probably benign	Het
Slc19a2	G	A	1: 164,263,445	G274D	probably damaging	Het
Slc22a27	T	C	19: 7,909,694		probably null	Het
Slc6a1	T	C	6: 114,311,829	F266L	probably damaging	Het
Snx25	T	G	8: 46,035,715	I868L	probably damaging	Het
Spag16	A	G	1: 69,996,877	I355V	probably benign	Het
Tmem198	A	T	1: 75,479,932		probably benign	Het
Traf3ip3	A	C	1: 193,184,478	S349A	probably damaging	Het
Trim17	A	G	11: 58,971,215	N358D	possibly damaging	Het
Trmu	A	G	15: 85,892,674	T196A	probably damaging	Het
Tsen2	A	G	6: 115,561,435	Y291C	probably damaging	Het
Vps13d	A	G	4: 145,126,471	F2358L	probably benign	Het
Wnt2	T	C	6: 17,989,947	H317R	probably benign	Het
Zfp120	A	T	2: 150,119,929	V33E	probably damaging	Het
Zfp407	C	T	18: 84,559,773	A1072T	probably benign	Het

Other mutations in Olfr809

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01884:Olfr809	APN	10	129776828	missense	probably benign	0.34
IGL02000:Olfr809	APN	10	129776069	missense	probably benign	0.03
IGL02146:Olfr809	APN	10	129776858	utr 3 prime	probably benign
IGL03087:Olfr809	APN	10	129776261	missense	probably damaging	0.98
IGL03260:Olfr809	APN	10	129776652	missense	probably damaging	1.00
PIT4466001:Olfr809	UTSW	10	129776273	missense	probably benign	0.04
R0564:Olfr809	UTSW	10	129776136	missense	probably damaging	1.00
R0613:Olfr809	UTSW	10	129776262	missense	probably damaging	1.00
R1556:Olfr809	UTSW	10	129776373	missense	probably benign	0.05
R5392:Olfr809	UTSW	10	129776315	missense	probably benign	0.01
R6665:Olfr809	UTSW	10	129776247	missense	probably damaging	1.00
R7519:Olfr809	UTSW	10	129776222	missense	probably benign	0.01
R7804:Olfr809	UTSW	10	129776222	missense	probably benign	0.01

Predicted Primers

Posted On

2014-01-15