Mutagenetix > Incidental Mutation

Incidental Mutation 'R8239:Or4a76'

637490

Institutional Source

Beutler Lab

Gene Symbol

Or4a76

Ensembl Gene

ENSMUSG00000075079

Gene Name

olfactory receptor family 4 subfamily A member 76

Synonyms

Olfr1249, GA_x6K02T2Q125-51072323-51071367, MOR231-16P, Olfr1541-ps1, MOR231-17P, MOR231-25_p, MOR231-16P

MMRRC Submission

067646-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R8239 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89460284-89461240 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 89460907 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 112 (I112F)

Ref Sequence

ENSEMBL: ENSMUSP00000097357 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099769]

AlphaFold

L7MU51

Predicted Effect

probably damaging
Transcript: ENSMUST00000099769
AA Change: I112F

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000097357
Gene: ENSMUSG00000075079
AA Change: I112F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	4.9e-47	PFAM
Pfam:7tm_1	39	285	1.1e-19	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.9%

Validation Efficiency

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	T	C	8: 41,278,106 (GRCm39)	S166P	probably damaging	Het
Appl1	T	A	14: 26,686,914 (GRCm39)	T19S	probably damaging	Het
Arid4b	T	A	13: 14,344,594 (GRCm39)	D557E	probably benign	Het
Aven	C	T	2: 112,390,120 (GRCm39)	R8W	probably benign	Het
C2cd2l	T	C	9: 44,227,502 (GRCm39)	E307G	possibly damaging	Het
Cdh20	A	C	1: 110,027,832 (GRCm39)	T526P	probably benign	Het
Dchs1	C	T	7: 105,414,718 (GRCm39)	V775M	probably benign	Het
Dennd1b	A	G	1: 138,969,673 (GRCm39)	N63S	probably benign	Het
Dtnb	A	T	12: 3,694,056 (GRCm39)	Y248F	unknown	Het
Ehbp1l1	T	A	19: 5,770,089 (GRCm39)	T405S	possibly damaging	Het
Fam149a	A	G	8: 45,803,490 (GRCm39)	Y415H	possibly damaging	Het
Fam186a	A	G	15: 99,839,191 (GRCm39)	L2351P	unknown	Het
Fsip2	T	G	2: 82,819,687 (GRCm39)	I5140S	possibly damaging	Het
Gm8674	T	C	13: 50,054,262 (GRCm39)	T749A	noncoding transcript	Het
Kalrn	A	G	16: 33,870,153 (GRCm39)	V1894A	noncoding transcript	Het
Kpna3	A	T	14: 61,624,919 (GRCm39)	N141K	probably damaging	Het
Lrba	G	A	3: 86,449,882 (GRCm39)	G2067D	probably damaging	Het
Lrp2	G	T	2: 69,311,611 (GRCm39)	Y2622*	probably null	Het
Lrtm2	A	C	6: 119,297,778 (GRCm39)	F88V	probably damaging	Het
Mboat1	T	C	13: 30,429,333 (GRCm39)	S454P	probably damaging	Het
Nkpd1	C	T	7: 19,253,753 (GRCm39)	P40S	probably benign	Het
Or2b7	T	C	13: 21,739,788 (GRCm39)	I135V	probably benign	Het
Or8b54	G	A	9: 38,686,577 (GRCm39)	V9M	noncoding transcript	Het
Or8k27	C	A	2: 86,275,473 (GRCm39)	M284I	noncoding transcript	Het
Patj	A	G	4: 98,570,308 (GRCm39)	E1711G	possibly damaging	Het
Pcdha4	A	T	18: 37,086,128 (GRCm39)	I104F	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Plekhg4	C	T	8: 106,107,546 (GRCm39)	R990*	probably null	Het
Pphln1	T	C	15: 93,386,930 (GRCm39)	S343P	probably benign	Het
Pram1	A	T	17: 33,860,241 (GRCm39)	K269N	probably damaging	Het
Psmd13	T	A	7: 140,466,450 (GRCm39)	I79K	probably damaging	Het
Ptprf	T	C	4: 118,069,309 (GRCm39)	D1586G	possibly damaging	Het
Ptprh	T	A	7: 4,584,090 (GRCm39)	Q167H	probably damaging	Het
Rbm46	C	T	3: 82,772,775 (GRCm39)	R119Q	probably benign	Het
Rreb1	T	C	13: 38,077,848 (GRCm39)	M20T	probably damaging	Het
Scrn2	T	G	11: 96,923,046 (GRCm39)	L163R	probably damaging	Het
Slc36a3	C	T	11: 55,022,433 (GRCm39)	V254I	probably benign	Het
Slc6a6	T	C	6: 91,701,951 (GRCm39)	F120L	probably benign	Het
Slc8a2	A	T	7: 15,879,230 (GRCm39)	H572L	probably benign	Het
Spats2	T	A	15: 99,106,776 (GRCm39)	D357E	probably damaging	Het
Speg	A	T	1: 75,395,677 (GRCm39)	N1816I	probably damaging	Het
Sult2b1	A	G	7: 45,433,361 (GRCm39)	V2A	unknown	Het
Susd3	T	C	13: 49,384,731 (GRCm39)	T231A	probably benign	Het
Tamalin	C	T	15: 101,128,902 (GRCm39)	L217F	probably damaging	Het
Tcp1	A	G	17: 13,139,738 (GRCm39)	D261G	probably benign	Het
Trpm2	C	G	10: 77,771,836 (GRCm39)	S601T	probably benign	Het
Ugt2b38	A	T	5: 87,571,659 (GRCm39)	F124L	probably benign	Het
Unc80	G	T	1: 66,693,178 (GRCm39)	E2522D	probably benign	Het
Usp34	A	G	11: 23,396,750 (GRCm39)	T2365A		Het
Vmn2r92	G	T	17: 18,405,278 (GRCm39)	M807I	probably benign	Het
Vps13b	C	A	15: 35,597,550 (GRCm39)	P1030Q	probably damaging	Het
Wrn	T	G	8: 33,819,213 (GRCm39)	K246N	probably damaging	Het
Zer1	T	A	2: 29,991,147 (GRCm39)		probably null	Het

Other mutations in Or4a76

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01387:Or4a76	APN	2	89,460,964 (GRCm39)	nonsense	probably null
IGL02127:Or4a76	APN	2	89,461,098 (GRCm39)	missense	probably damaging	0.97
IGL02555:Or4a76	APN	2	89,460,547 (GRCm39)	missense	probably damaging	0.99
IGL02645:Or4a76	APN	2	89,460,679 (GRCm39)	missense	probably benign	0.05
IGL03112:Or4a76	APN	2	89,460,678 (GRCm39)	missense	probably benign	0.11
BB008:Or4a76	UTSW	2	89,460,448 (GRCm39)	missense	possibly damaging	0.78
BB018:Or4a76	UTSW	2	89,460,448 (GRCm39)	missense	possibly damaging	0.78
R1460:Or4a76	UTSW	2	89,460,282 (GRCm39)	splice site	probably null
R1496:Or4a76	UTSW	2	89,460,358 (GRCm39)	missense	possibly damaging	0.96
R4634:Or4a76	UTSW	2	89,460,516 (GRCm39)	missense	possibly damaging	0.93
R4635:Or4a76	UTSW	2	89,460,516 (GRCm39)	missense	possibly damaging	0.93
R4636:Or4a76	UTSW	2	89,460,516 (GRCm39)	missense	possibly damaging	0.93
R5668:Or4a76	UTSW	2	89,460,688 (GRCm39)	missense	probably damaging	1.00
R5787:Or4a76	UTSW	2	89,461,018 (GRCm39)	missense	probably benign	0.05
R5888:Or4a76	UTSW	2	89,461,143 (GRCm39)	missense	probably damaging	0.99
R6267:Or4a76	UTSW	2	89,460,975 (GRCm39)	missense	probably damaging	0.98
R6296:Or4a76	UTSW	2	89,460,975 (GRCm39)	missense	probably damaging	0.98
R7324:Or4a76	UTSW	2	89,460,447 (GRCm39)	missense	possibly damaging	0.78
R7421:Or4a76	UTSW	2	89,460,915 (GRCm39)	missense	probably damaging	0.98
R7459:Or4a76	UTSW	2	89,461,012 (GRCm39)	missense	probably damaging	1.00
R7931:Or4a76	UTSW	2	89,460,448 (GRCm39)	missense	possibly damaging	0.78
R8129:Or4a76	UTSW	2	89,460,792 (GRCm39)	missense	probably damaging	1.00
R9053:Or4a76	UTSW	2	89,461,161 (GRCm39)	missense	probably benign	0.01
R9339:Or4a76	UTSW	2	89,460,555 (GRCm39)	missense	probably damaging	1.00
R9408:Or4a76	UTSW	2	89,460,388 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGTCAATGATATTGGGACCACAG -3'
(R):5'- TGCTCATCGTAGGGACAGTG -3'

Sequencing Primer
(F):5'- TCAATGATATTGGGACCACAGAATGG -3'
(R):5'- CATCGTAGGGACAGTGATTGCC -3'

Posted On

2020-07-13