Mutagenetix > Incidental Mutation

Incidental Mutation 'R0636:Olfr476'

56680

Institutional Source

Beutler Lab

Gene Symbol

Olfr476

Ensembl Gene

ENSMUSG00000095301

Gene Name

olfactory receptor 476

Synonyms

MOR204-3, GA_x6K02T2PBJ9-10296787-10297719

MMRRC Submission

038825-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R0636 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107964803-107969514 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107967472 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 25 (V25A)

Ref Sequence

ENSEMBL: ENSMUSP00000149760 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077249] [ENSMUST00000217173]

AlphaFold

Q8VGI4

Predicted Effect

probably benign
Transcript: ENSMUST00000077249
AA Change: V25A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000076485
Gene: ENSMUSG00000095301
AA Change: V25A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.7e-51	PFAM
Pfam:7tm_1	41	290	4.1e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217173
AA Change: V25A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.7%

Validation Efficiency

96% (74/77)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	T	C	4: 103,231,217	Y264C	probably damaging	Het
8030423J24Rik	T	C	13: 70,884,225	F139L	unknown	Het
Aco1	A	G	4: 40,175,697	E146G	probably damaging	Het
Adam2	T	G	14: 66,034,816	D639A	probably benign	Het
Adh4	G	T	3: 138,428,074	R315L	probably damaging	Het
Adprhl1	T	C	8: 13,248,702	D76G	probably damaging	Het
AF366264	T	C	8: 13,837,870	R74G	probably benign	Het
Akip1	T	C	7: 109,707,519		probably benign	Het
Ap3d1	T	A	10: 80,719,382	K370*	probably null	Het
Arfgef1	C	A	1: 10,199,851	V358L	probably benign	Het
Arpp21	A	T	9: 112,183,498	D85E	probably benign	Het
Azi2	A	T	9: 118,062,057	L383F	probably benign	Het
Bpgm	T	A	6: 34,504,287	D206E	probably benign	Het
Bsn	T	C	9: 108,107,834	D3007G	unknown	Het
Ccdc142	T	G	6: 83,107,198		probably benign	Het
Cep135	T	C	5: 76,615,657	V498A	probably benign	Het
Cntn6	A	T	6: 104,863,148	Q1003L	probably benign	Het
Cntnap2	T	A	6: 47,296,708		probably benign	Het
Csf2rb2	G	A	15: 78,291,960	Q139*	probably null	Het
Cyp3a16	A	G	5: 145,463,085	V101A	probably benign	Het
D630045J12Rik	T	C	6: 38,196,778	T152A	probably benign	Het
Def8	G	A	8: 123,454,357	W176*	probably null	Het
Dgkg	A	G	16: 22,579,729		probably benign	Het
Ear10	T	C	14: 43,922,994		probably null	Het
Fbxw2	A	T	2: 34,822,847	Y67*	probably null	Het
Flii	T	A	11: 60,715,552	Y1104F	probably damaging	Het
Gm973	G	A	1: 59,551,144	R270K	probably benign	Het
Gm9833	T	C	3: 10,088,783	L204P	possibly damaging	Het
Gnl3	T	A	14: 31,017,153	K75N	probably damaging	Het
Gpc6	A	T	14: 117,624,493	M274L	probably benign	Het
Ifi47	A	G	11: 49,096,651	E415G	possibly damaging	Het
Ift57	A	G	16: 49,711,896	T130A	probably benign	Het
Itpr2	T	A	6: 146,171,412	D2373V	probably damaging	Het
Kat6a	T	C	8: 22,939,323	S1565P	possibly damaging	Het
Klhl6	A	T	16: 19,948,073		probably benign	Het
Klra2	T	C	6: 131,220,104		probably benign	Het
Lama5	A	G	2: 180,189,331		probably null	Het
Mapk4	A	G	18: 73,930,454	S566P	probably benign	Het
Mindy4	C	A	6: 55,276,585	R480S	possibly damaging	Het
Mterf3	T	C	13: 66,922,753		probably benign	Het
Mtmr2	A	G	9: 13,801,913		probably null	Het
Naip5	T	C	13: 100,219,688	T1140A	probably benign	Het
Nf1	A	G	11: 79,535,703	T1648A	probably damaging	Het
Nlk	A	T	11: 78,695,844	D141E	probably benign	Het
Noxa1	C	A	2: 25,086,094		probably benign	Het
Olfr1279	A	G	2: 111,306,412	N69S	probably benign	Het
Olfr1480	A	T	19: 13,530,249	Y236F	possibly damaging	Het
Otog	G	A	7: 46,264,228		probably null	Het
Pebp4	T	C	14: 70,048,347		probably benign	Het
Phgdh	G	T	3: 98,333,291	N100K	possibly damaging	Het
Pnisr	T	A	4: 21,873,800		probably benign	Het
Ptpn6	T	C	6: 124,725,279	H346R	probably benign	Het
Rsf1	T	C	7: 97,662,019	V652A	possibly damaging	Het
Rubcn	G	A	16: 32,828,686	H624Y	probably damaging	Het
Setdb2	T	C	14: 59,406,704	N656D	probably benign	Het
Slc22a23	T	C	13: 34,299,093	T268A	probably benign	Het
Slc3a1	A	T	17: 85,032,794	T215S	possibly damaging	Het
Srsf2	A	G	11: 116,852,078	S206P	probably benign	Het
Susd2	T	A	10: 75,639,350	D542V	probably damaging	Het
Svep1	G	A	4: 58,073,121	Q2063*	probably null	Het
Syne2	G	A	12: 75,930,983	V1401M	possibly damaging	Het
Tenm2	A	G	11: 36,943,976	L64P	probably damaging	Het
Tigd2	A	G	6: 59,211,287	T380A	possibly damaging	Het
Trmt12	G	T	15: 58,873,985	V411F	probably damaging	Het
Ubr4	T	C	4: 139,436,302		probably null	Het
Ush2a	G	A	1: 188,822,738	C3571Y	probably benign	Het
Usp8	A	G	2: 126,720,110	M75V	possibly damaging	Het
Vcan	C	T	13: 89,704,706	D712N	probably damaging	Het
Vcan	C	A	13: 89,712,267	R327L	probably damaging	Het
Vps8	A	G	16: 21,434,933	E8G	probably benign	Het
Washc5	T	C	15: 59,359,409	D335G	probably benign	Het
Zbtb39	A	G	10: 127,742,835	N426S	probably benign	Het
Zfp184	T	A	13: 21,949,749	D55E	probably damaging	Het
Zfp882	T	C	8: 71,914,337	V336A	probably benign	Het

Other mutations in Olfr476

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01063:Olfr476	APN	7	107967534	missense	probably damaging	1.00
IGL01403:Olfr476	APN	7	107967621	missense	possibly damaging	0.64
IGL01564:Olfr476	APN	7	107967991	missense	probably benign	0.11
IGL01615:Olfr476	APN	7	107967937	missense	probably damaging	1.00
IGL01777:Olfr476	APN	7	107967502	missense	probably damaging	1.00
IGL01999:Olfr476	APN	7	107967468	missense	probably benign
IGL02239:Olfr476	APN	7	107968047	missense	probably damaging	1.00
R1986:Olfr476	UTSW	7	107967670	missense	probably benign
R5109:Olfr476	UTSW	7	107967897	missense	probably benign	0.06
R6363:Olfr476	UTSW	7	107967750	missense	possibly damaging	0.57
R6526:Olfr476	UTSW	7	107967462	missense	probably benign	0.03
R6907:Olfr476	UTSW	7	107968252	missense	probably damaging	1.00
R7063:Olfr476	UTSW	7	107968204	missense	probably benign
R7218:Olfr476	UTSW	7	107967667	missense	probably benign
R7240:Olfr476	UTSW	7	107968188	missense	probably benign	0.42
R7444:Olfr476	UTSW	7	107967604	missense	probably damaging	0.99
R7939:Olfr476	UTSW	7	107967779	nonsense	probably null
R8060:Olfr476	UTSW	7	107967405	missense	probably benign
R8953:Olfr476	UTSW	7	107968044	missense	probably benign	0.00
R9159:Olfr476	UTSW	7	107968317	nonsense	probably null
R9438:Olfr476	UTSW	7	107967793	missense	probably damaging	1.00
X0025:Olfr476	UTSW	7	107968188	missense	possibly damaging	0.75

Predicted Primers

PCR Primer
(F):5'- ACCTCAACACTGAGGGAAAGATCTCTG -3'
(R):5'- GCACTCAACTGTCCCAAATGTCACTG -3'

Sequencing Primer
(F):5'- TCCCCAGTTCTTCAAAGCATAG -3'
(R):5'- TTGGGCTATACAAGCAGCTAC -3'

Posted On

2013-07-11