Mutagenetix > Incidental Mutation

Incidental Mutation 'R7240:Olfr476'

563144

Institutional Source

Beutler Lab

Gene Symbol

Olfr476

Ensembl Gene

ENSMUSG00000095301

Gene Name

olfactory receptor 476

Synonyms

MOR204-3, GA_x6K02T2PBJ9-10296787-10297719

MMRRC Submission

045347-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R7240 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107964803-107969514 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107968188 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 264 (S264P)

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: S264P

PolyPhen 2 Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000076485
Gene: ENSMUSG00000095301
AA Change: S264P

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: S264P

PolyPhen 2 Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

96% (50/52)

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
2210017I01Rik	A	G	3: 92,605,075 (GRCm38)	I59T	unknown	Het
Aspm	C	T	1: 139,478,651 (GRCm38)	Q1759*	probably null	Het
Atn1	A	T	6: 124,747,898 (GRCm38)	I124K	unknown	Het
Catsper2	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	2: 121,397,572 (GRCm38)		probably benign	Het
Ccdc88c	C	T	12: 100,944,939 (GRCm38)	V879M	probably benign	Het
Cd300c	A	G	11: 114,959,783 (GRCm38)	C65R	possibly damaging	Het
Cd69	A	T	6: 129,270,042 (GRCm38)	S112T	possibly damaging	Het
Cdh19	T	C	1: 110,893,407 (GRCm38)	T534A	probably benign	Het
Cdk5rap2	T	A	4: 70,291,908 (GRCm38)	D701V	probably damaging	Het
D130052B06Rik	A	G	11: 33,623,874 (GRCm38)	H157R	possibly damaging	Het
Dpf1	T	A	7: 29,311,627 (GRCm38)	F150L	probably benign	Het
Dsg1c	T	C	18: 20,283,109 (GRCm38)	L689P	probably damaging	Het
Dstyk	G	A	1: 132,454,123 (GRCm38)	M538I	probably benign	Het
E4f1	T	A	17: 24,444,325 (GRCm38)	I669F	probably damaging	Het
Gm7138	T	C	10: 77,776,755 (GRCm38)	T64A	unknown	Het
Gnai2	A	C	9: 107,615,773 (GRCm38)	D310E		Het
Iqca	A	G	1: 90,070,550 (GRCm38)	V567A	possibly damaging	Het
Iqgap1	A	T	7: 80,759,839 (GRCm38)	N249K	probably benign	Het
Lamc1	A	G	1: 153,234,650 (GRCm38)	V1093A	possibly damaging	Het
Mfap3	A	G	11: 57,529,756 (GRCm38)	K188E	probably damaging	Het
N4bp2	T	A	5: 65,794,545 (GRCm38)	V431D	probably damaging	Het
Notch4	A	G	17: 34,576,471 (GRCm38)	T792A	probably benign	Het
Ntn4	A	G	10: 93,745,741 (GRCm38)	H592R	probably damaging	Het
Ofcc1	A	G	13: 40,208,841 (GRCm38)	C202R	probably benign	Het
Olfr13	A	G	6: 43,174,501 (GRCm38)	K172E	probably benign	Het
Olfr418	T	C	1: 173,270,994 (GRCm38)	I273T	probably benign	Het
Olfr497	A	G	7: 108,422,933 (GRCm38)	M121V	probably damaging	Het
Olfr922	A	G	9: 38,815,713 (GRCm38)	D70G	probably benign	Het
Olfr938	A	T	9: 39,078,610 (GRCm38)	M45K	probably damaging	Het
Parpbp	G	A	10: 88,124,940 (GRCm38)	T228I	probably damaging	Het
Pcdhgb8	G	A	18: 37,763,703 (GRCm38)	V609M	probably damaging	Het
Pla2g4d	T	C	2: 120,270,349 (GRCm38)	N543S	probably damaging	Het
Puf60	A	G	15: 76,072,539 (GRCm38)		probably benign	Het
Rbm6	A	T	9: 107,852,896 (GRCm38)	D184E	probably damaging	Het
Rnase9	A	C	14: 51,038,979 (GRCm38)	S181A	probably benign	Het
Rnpc3	T	A	3: 113,616,831 (GRCm38)	R270S	probably damaging	Het
Rundc1	T	C	11: 101,431,548 (GRCm38)		probably null	Het
Ryr1	T	C	7: 29,052,015 (GRCm38)	S3715G	possibly damaging	Het
Scn3a	A	T	2: 65,469,042 (GRCm38)	D1373E	possibly damaging	Het
Serpina3k	T	G	12: 104,340,602 (GRCm38)	I31S	probably benign	Het
Sipa1l2	A	G	8: 125,469,860 (GRCm38)	F712L	probably damaging	Het
Slc22a29	A	G	19: 8,161,511 (GRCm38)	V529A	probably damaging	Het
Tdrd3	A	G	14: 87,458,803 (GRCm38)	N58S	probably benign	Het
Tmc2	C	T	2: 130,234,804 (GRCm38)	T350I	possibly damaging	Het
Tpst2	T	C	5: 112,307,678 (GRCm38)	C28R	probably benign	Het
Trbv21	A	T	6: 41,202,958 (GRCm38)	K69N	probably benign	Het
Trpm2	A	G	10: 77,935,876 (GRCm38)		probably null	Het
Ttn	A	G	2: 76,848,990 (GRCm38)	V10796A	unknown	Het
Ush2a	A	G	1: 188,911,661 (GRCm38)	T4407A	possibly damaging	Het
Vmn2r95	A	G	17: 18,451,963 (GRCm38)	H726R	probably benign	Het
Zfp777	A	G	6: 48,044,449 (GRCm38)	S80P	probably benign	Het

Other mutations in Olfr476

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01063:Olfr476	APN	7	107,967,534 (GRCm38)	missense	probably damaging	1.00
IGL01403:Olfr476	APN	7	107,967,621 (GRCm38)	missense	possibly damaging	0.64
IGL01564:Olfr476	APN	7	107,967,991 (GRCm38)	missense	probably benign	0.11
IGL01615:Olfr476	APN	7	107,967,937 (GRCm38)	missense	probably damaging	1.00
IGL01777:Olfr476	APN	7	107,967,502 (GRCm38)	missense	probably damaging	1.00
IGL01999:Olfr476	APN	7	107,967,468 (GRCm38)	missense	probably benign
IGL02239:Olfr476	APN	7	107,968,047 (GRCm38)	missense	probably damaging	1.00
R0636:Olfr476	UTSW	7	107,967,472 (GRCm38)	missense	probably benign	0.00
R1986:Olfr476	UTSW	7	107,967,670 (GRCm38)	missense	probably benign
R5109:Olfr476	UTSW	7	107,967,897 (GRCm38)	missense	probably benign	0.06
R6363:Olfr476	UTSW	7	107,967,750 (GRCm38)	missense	possibly damaging	0.57
R6526:Olfr476	UTSW	7	107,967,462 (GRCm38)	missense	probably benign	0.03
R6907:Olfr476	UTSW	7	107,968,252 (GRCm38)	missense	probably damaging	1.00
R7063:Olfr476	UTSW	7	107,968,204 (GRCm38)	missense	probably benign
R7218:Olfr476	UTSW	7	107,967,667 (GRCm38)	missense	probably benign
R7444:Olfr476	UTSW	7	107,967,604 (GRCm38)	missense	probably damaging	0.99
R7939:Olfr476	UTSW	7	107,967,779 (GRCm38)	nonsense	probably null
R8060:Olfr476	UTSW	7	107,967,405 (GRCm38)	missense	probably benign
R8953:Olfr476	UTSW	7	107,968,044 (GRCm38)	missense	probably benign	0.00
R9159:Olfr476	UTSW	7	107,968,317 (GRCm38)	nonsense	probably null
R9438:Olfr476	UTSW	7	107,967,793 (GRCm38)	missense	probably damaging	1.00
X0025:Olfr476	UTSW	7	107,968,188 (GRCm38)	missense	possibly damaging	0.75

Predicted Primers

PCR Primer
(F):5'- ACTTCCCTGCTGTGTTGAAAC -3'
(R):5'- GGTACTAACAGTGGTATGCATACG -3'

Sequencing Primer
(F):5'- GCTGGATCCATCATTGTGATCACAG -3'
(R):5'- ACAGTGGTATGCATACGTAAAATG -3'

Posted On

2019-06-26