Mutagenetix > Incidental Mutations

Incidental Mutation 'R8301:Olfr472'

639263

Institutional Source

Beutler Lab

Gene Symbol

Olfr472

Ensembl Gene

ENSMUSG00000073893

Gene Name

olfactory receptor 472

Synonyms

MOR204-5, GA_x6K02T2PBJ9-10231953-10232885

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R8301 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107897902-107907762 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107903626 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 303 (K303R)

Ref Sequence

ENSEMBL: ENSMUSP00000147272 (fasta)

AlphaFold

Q8VG43

Predicted Effect

probably benign
Transcript: ENSMUST00000209670

Predicted Effect

probably benign
Transcript: ENSMUST00000210420
AA Change: K303R

PolyPhen 2 Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210856

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (71/71)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	T	5: 87,972,505	I374F	probably benign	Het
9430076C15Rik	A	G	6: 53,681,033	D116G	possibly damaging	Het
Ak9	G	A	10: 41,424,716	V1108I		Het
Aldh16a1	C	T	7: 45,141,982	A790T	possibly damaging	Het
Anks1	A	T	17: 28,059,580		probably benign	Het
Antxr2	T	G	5: 97,977,679	T240P	probably benign	Het
Arfgef1	A	T	1: 10,179,833	M945K	probably damaging	Het
Arhgef17	T	C	7: 100,879,659	T1591A	probably benign	Het
Aurka	A	G	2: 172,356,930	S374P	probably damaging	Het
Bccip	T	C	7: 133,719,204	S236P	probably benign	Het
Cacna1s	T	A	1: 136,073,441		probably benign	Het
Calm1	A	G	12: 100,205,685	E132G	probably benign	Het
Casz1	A	G	4: 148,946,043	D1173G	probably damaging	Het
Cdh17	A	G	4: 11,795,659	D413G	probably damaging	Het
Cfap57	A	G	4: 118,593,074	I617T	possibly damaging	Het
Csnka2ip	A	C	16: 64,478,991	S337A	unknown	Het
Ddx60	A	G	8: 62,000,597	E1250G	probably benign	Het
Dlgap2	T	A	8: 14,823,577	S727T	probably benign	Het
Dpy19l1	T	C	9: 24,485,111		probably benign	Het
Ebf2	A	G	14: 67,238,982	T134A	possibly damaging	Het
Echdc2	A	T	4: 108,172,909	M136L	probably benign	Het
Enpp2	A	G	15: 54,851,407	F598S	probably benign	Het
Extl3	A	C	14: 65,076,284	L483R	probably damaging	Het
Gcat	T	C	15: 79,035,889	V227A	possibly damaging	Het
Hsf2	A	G	10: 57,505,346	D344G	probably damaging	Het
Ighm	C	T	12: 113,421,545	G265D		Het
Igsf9b	T	G	9: 27,334,739		probably benign	Het
Ints6	A	G	14: 62,702,453	V596A	probably benign	Het
Ints8	T	C	4: 11,246,120	E182G	probably damaging	Het
Iqgap2	A	G	13: 95,682,151		probably null	Het
Kalrn	G	T	16: 34,357,100	Q250K	probably benign	Het
Lrrc1	T	A	9: 77,544,488	N46Y	probably damaging	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Naa50	A	G	16: 44,157,131	N74S	probably benign	Het
Neb	T	C	2: 52,288,835	N1303S	probably benign	Het
Nfs1	A	T	2: 156,134,493	C160*	probably null	Het
Olfr591	T	G	7: 103,173,073	K188T	probably damaging	Het
Olfr740	T	A	14: 50,453,564	S171T	probably benign	Het
Olfr809	T	C	10: 129,776,840	S309P	probably benign	Het
Orm2	T	C	4: 63,363,026	F67S	possibly damaging	Het
Pex5	A	G	6: 124,405,183	S180P	probably benign	Het
Phf14	G	C	6: 11,992,062	G746R	probably damaging	Het
Pkm	T	A	9: 59,668,631	V110E	probably damaging	Het
Plekha6	T	G	1: 133,264,687	N78K	probably damaging	Het
Plxna2	G	A	1: 194,790,175	V1076I	probably benign	Het
Polq	C	A	16: 37,061,819	D1448E	probably damaging	Het
Pot1b	T	C	17: 55,687,895	T256A	probably benign	Het
Prkch	C	T	12: 73,702,764	T377I	possibly damaging	Het
Prl3c1	A	C	13: 27,199,185		probably benign	Het
Prl7b1	A	C	13: 27,602,772	V158G	possibly damaging	Het
Prss22	T	C	17: 23,993,981	S261G	probably damaging	Het
Psd	T	C	19: 46,321,102		probably benign	Het
Psg18	A	T	7: 18,353,377	Y119N	probably damaging	Het
Rbm6	T	G	9: 107,852,794	R218S	probably damaging	Het
Rnf213	T	A	11: 119,434,742	S1491T		Het
Rsf1	T	C	7: 97,661,925	S621P		Het
Runx1	C	A	16: 92,605,656	*466L	probably null	Het
Samd4	A	G	14: 47,016,678	I200V	probably benign	Het
Sdsl	C	T	5: 120,459,519	C241Y	probably benign	Het
Sepn1	T	C	4: 134,551,414		probably benign	Het
Setx	C	T	2: 29,145,690	P729L	possibly damaging	Het
Sf1	C	T	19: 6,368,366	Q55*	probably null	Het
Slc12a5	A	T	2: 164,993,691	N833I	probably damaging	Het
Slc1a4	T	C	11: 20,332,286	R63G	probably damaging	Het
Tmeff2	G	T	1: 51,181,837	A324S	probably benign	Het
Tmem217	A	G	17: 29,526,492	I88T	possibly damaging	Het
Tnfsf8	A	T	4: 63,860,878	I61N	probably benign	Het
Tpbgl	G	T	7: 99,625,567	A361E	probably damaging	Het
Trhde	T	A	10: 114,487,006	E667V	probably benign	Het
Unc13b	A	G	4: 43,263,568	T1598A	probably benign	Het
Vmn2r73	A	T	7: 85,858,302	C601S	probably benign	Het
Zfp873	C	A	10: 82,060,879	H481Q	probably damaging	Het

Other mutations in Olfr472

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00225:Olfr472	APN	7	107903104	missense	probably damaging	1.00
IGL02002:Olfr472	APN	7	107903290	missense	possibly damaging	0.81
IGL02320:Olfr472	APN	7	107902831	missense	possibly damaging	0.78
IGL02701:Olfr472	APN	7	107903442	missense	probably benign	0.42
IGL03022:Olfr472	APN	7	107902981	missense	probably benign	0.18
IGL03214:Olfr472	APN	7	107902966	missense	probably benign	0.00
IGL03257:Olfr472	APN	7	107902756	missense	probably benign	0.01
IGL03372:Olfr472	APN	7	107903370	missense	probably damaging	1.00
G1Funyon:Olfr472	UTSW	7	107903626	missense	probably benign	0.24
R0081:Olfr472	UTSW	7	107903005	missense	probably benign	0.00
R0669:Olfr472	UTSW	7	107903239	missense	probably damaging	1.00
R0932:Olfr472	UTSW	7	107903190	missense	possibly damaging	0.94
R1158:Olfr472	UTSW	7	107902923	missense	possibly damaging	0.75
R1746:Olfr472	UTSW	7	107902886	missense	probably benign	0.01
R3777:Olfr472	UTSW	7	107902747	missense	probably benign
R3778:Olfr472	UTSW	7	107902747	missense	probably benign
R4605:Olfr472	UTSW	7	107903238	missense	probably benign	0.24
R4661:Olfr472	UTSW	7	107902981	missense	probably benign	0.18
R4675:Olfr472	UTSW	7	107903360	missense	probably damaging	1.00
R5374:Olfr472	UTSW	7	107903491	missense	possibly damaging	0.52
R5686:Olfr472	UTSW	7	107902912	missense	probably damaging	0.99
R6030:Olfr472	UTSW	7	107903413	missense	probably benign	0.06
R6030:Olfr472	UTSW	7	107903413	missense	probably benign	0.06
R6164:Olfr472	UTSW	7	107903388	missense	probably benign	0.01
R6347:Olfr472	UTSW	7	107902950	missense	possibly damaging	0.68
R6995:Olfr472	UTSW	7	107903622	missense	probably benign	0.13
R7035:Olfr472	UTSW	7	107902933	missense	probably benign
R7818:Olfr472	UTSW	7	107903023	missense	probably benign	0.01
R7890:Olfr472	UTSW	7	107903043	missense	probably benign	0.01
R8189:Olfr472	UTSW	7	107902732	missense	probably damaging	0.99
R8965:Olfr472	UTSW	7	107903107	missense	probably damaging	1.00
R9269:Olfr472	UTSW	7	107903320	missense	possibly damaging	0.94
Z1176:Olfr472	UTSW	7	107903058	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCAGTCACTCTCTTCTATGGG -3'
(R):5'- TGCAGAAGTTCAACAGTAGCAATG -3'

Sequencing Primer
(F):5'- ATGGGACCATTACCGTCATTTACG -3'
(R):5'- TTCAGTGACATCAACTAGTCCTAC -3'

Posted On

2020-07-28