Mutagenetix > Incidental Mutation

Incidental Mutation 'R5374:Olfr472'

428939

Institutional Source

Beutler Lab

Gene Symbol

Olfr472

Ensembl Gene

ENSMUSG00000073893

Gene Name

olfactory receptor 472

Synonyms

MOR204-5, GA_x6K02T2PBJ9-10231953-10232885

MMRRC Submission

042950-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R5374 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107897902-107907762 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107903491 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 258 (I258T)

Ref Sequence

ENSEMBL: ENSMUSP00000150404 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000209670] [ENSMUST00000210420] [ENSMUST00000216937]

AlphaFold

Q8VG43

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084760
AA Change: I258T

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000081815
Gene: ENSMUSG00000063120
AA Change: I258T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	5.6e-49	PFAM
Pfam:7tm_1	41	290	8.1e-19	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209670
AA Change: I258T

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210420
AA Change: I258T

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210856

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216937
AA Change: I258T

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

96% (81/84)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,067,635	S862G	probably benign	Het
2410089E03Rik	T	C	15: 8,270,803	V3198A	unknown	Het
Adgrf1	G	A	17: 43,291,005		probably benign	Het
Adss	T	G	1: 177,796,388	I3L	probably benign	Het
Anapc7	T	A	5: 122,438,217	D302E	probably benign	Het
Ank3	A	G	10: 69,953,476		probably null	Het
Astn2	A	C	4: 65,397,005	V1145G	probably damaging	Het
Babam2	C	T	5: 32,007,230		probably benign	Het
Blvrb	A	G	7: 27,465,846	H238R	possibly damaging	Het
Cacna1b	C	T	2: 24,706,216	V488I	probably damaging	Het
Ccdc88a	C	T	11: 29,463,409	T649M	possibly damaging	Het
Cdh12	A	C	15: 21,583,912	S613R	probably damaging	Het
Cisd2	A	G	3: 135,408,835	V125A	probably benign	Het
Clcn2	C	A	16: 20,709,669	G478W	possibly damaging	Het
Cntnap2	T	A	6: 47,107,969	H1121Q	probably benign	Het
Corin	A	T	5: 72,304,953	C876S	probably damaging	Het
Cox7c	T	C	13: 86,046,620	Y19C	probably benign	Het
Cspp1	T	G	1: 10,134,126	L1038R	probably damaging	Het
Cwc15	A	G	9: 14,504,938	K147E	possibly damaging	Het
Dlgap2	A	G	8: 14,823,614	D739G	probably benign	Het
Dmxl2	A	G	9: 54,369,189		probably benign	Het
Dock5	A	G	14: 67,805,756	V864A	possibly damaging	Het
Dock7	A	G	4: 98,989,038	F1088L	possibly damaging	Het
Dpysl3	T	C	18: 43,361,036	Y193C	probably damaging	Het
Dtna	T	C	18: 23,651,613	Y730H	probably damaging	Het
Dusp3	A	G	11: 101,984,625	Y38H	possibly damaging	Het
Eif3m	A	T	2: 105,012,932	I151N	probably damaging	Het
Entpd2	C	T	2: 25,399,726	T380I	probably damaging	Het
Epb41l3	C	A	17: 69,286,800	H810N	probably damaging	Het
Fcrl5	A	G	3: 87,446,391	T348A	probably benign	Het
Ginm1	A	G	10: 7,779,314	S55P	probably damaging	Het
Glt1d1	C	A	5: 127,657,084		probably null	Het
Gm15433	T	A	1: 84,964,112		noncoding transcript	Het
Gm8221	A	G	15: 77,626,152		noncoding transcript	Het
Gramd1c	A	G	16: 43,983,241	V603A	probably benign	Het
Grm1	A	G	10: 11,080,442	S33P	probably benign	Het
Gstp3	T	C	19: 4,057,922	N137S	possibly damaging	Het
Kdm5d	C	T	Y: 927,995	P756S	probably benign	Het
Ly75	A	T	2: 60,311,771	L1332M	possibly damaging	Het
Med1	T	A	11: 98,163,963	K378N	probably damaging	Het
Mn1	A	G	5: 111,421,886		probably null	Het
Mpo	T	C	11: 87,803,611		probably null	Het
Nom1	C	G	5: 29,441,379	R555G	probably damaging	Het
Nsmce4a	C	T	7: 130,538,170	R276Q	probably benign	Het
Nt5c	G	A	11: 115,490,817		probably null	Het
Olfr670	G	T	7: 104,959,996	H245Q	probably damaging	Het
Olfr908	CACAACAACA	CACAACA	9: 38,516,138		probably benign	Het
Pcdhga4	T	C	18: 37,685,596	V66A	probably damaging	Het
Pik3c3	T	C	18: 30,312,561	S534P	probably benign	Het
Pla2g4e	A	T	2: 120,186,395	C222S	probably benign	Het
Plch1	A	C	3: 63,698,078	H1468Q	probably benign	Het
Psd2	T	A	18: 36,007,503	W610R	probably damaging	Het
Ptgs1	A	T	2: 36,251,186	K548N	probably damaging	Het
Ptprz1	T	A	6: 23,007,355	V1639E	probably damaging	Het
Rangap1	A	T	15: 81,706,494	S466T	probably benign	Het
Rgsl1	C	T	1: 153,790,307	V986I	probably benign	Het
Rhobtb3	T	C	13: 75,878,895	Y453C	probably damaging	Het
Rspry1	T	C	8: 94,623,008	V8A	probably benign	Het
Rspry1	C	A	8: 94,654,264	R399S	probably benign	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Rxfp2	A	G	5: 150,070,260	T596A	probably benign	Het
Sap18b	G	A	8: 95,825,370	A3T	unknown	Het
Serpina3j	A	G	12: 104,314,727	D53G	probably damaging	Het
Skint3	T	A	4: 112,298,189	D381E	possibly damaging	Het
Slirp	T	C	12: 87,449,422	S96P	possibly damaging	Het
Snx6	T	C	12: 54,770,728	E128G	probably damaging	Het
Stap1	A	G	5: 86,090,928	T152A	possibly damaging	Het
Tcf20	A	T	15: 82,851,957	N1764K	probably damaging	Het
Thap2	A	T	10: 115,372,839	Y125*	probably null	Het
Ticrr	T	G	7: 79,690,942	Y1031*	probably null	Het
Tnrc18	G	A	5: 142,740,156	R1793C	unknown	Het
Trpm3	C	T	19: 22,926,184	R945*	probably null	Het
Ugt1a10	T	A	1: 88,055,910	D143E	probably damaging	Het
Ush2a	C	T	1: 188,755,206	T3057M	probably benign	Het
Zc3h6	A	T	2: 129,002,156	I207F	possibly damaging	Het
Zfp518a	T	C	19: 40,913,510	S628P	probably benign	Het
Zufsp	T	C	10: 33,927,466	N541D	possibly 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
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
R8301:Olfr472	UTSW	7	107903626	missense	probably benign	0.24
R8965:Olfr472	UTSW	7	107903107	missense	probably damaging	1.00
R9269:Olfr472	UTSW	7	107903320	missense	possibly damaging	0.94
R9478:Olfr472	UTSW	7	107903031	missense	probably damaging	0.99
R9566:Olfr472	UTSW	7	107903202	missense	possibly damaging	0.52
Z1176:Olfr472	UTSW	7	107903058	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTGTCCTGCTCAGATGTCTCC -3'
(R):5'- AGATGCTAGGTGTGACATGG -3'

Sequencing Primer
(F):5'- TGCTCAGATGTCTCCATTATTGG -3'
(R):5'- TGCTAGGTGTGACATGGGTAAAG -3'

Posted On

2016-09-06