Mutagenetix > Incidental Mutations

Incidental Mutation 'R0143:Olfr63'

22467

Institutional Source

Beutler Lab

Gene Symbol

Olfr63

Ensembl Gene

ENSMUSG00000054666

Gene Name

olfactory receptor 63

Synonyms

GA_x6K02T2NTC5-9778-8828, M4, MOR267-1

MMRRC Submission

038428-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R0143 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

33264676-33275644 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33269497 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 258 (S258P)

Ref Sequence

ENSEMBL: ENSMUSP00000150323 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067840] [ENSMUST00000217023]

Predicted Effect

probably damaging
Transcript: ENSMUST00000067840
AA Change: S258P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000067207
Gene: ENSMUSG00000054666
AA Change: S258P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	310	1e-51	PFAM
Pfam:7tm_1	42	288	5.9e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215466

Predicted Effect

probably damaging
Transcript: ENSMUST00000217023
AA Change: S258P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.4226

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.6%
20x: 93.6%

Validation Efficiency

97% (76/78)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	A	T	18: 61,855,217	I145N	probably benign	Het
Ankrd1	G	A	19: 36,119,313	A38V	probably benign	Het
Ankrd34b	A	G	13: 92,439,760	E500G	probably damaging	Het
Arhgef12	T	C	9: 43,005,594	T419A	probably damaging	Het
B3galt2	A	T	1: 143,647,334	N403Y	possibly damaging	Het
Bbx	C	T	16: 50,280,392	E47K	probably benign	Het
C4b	G	A	17: 34,734,219		probably benign	Het
Cacna1e	A	T	1: 154,448,947		probably null	Het
Cdh3	T	C	8: 106,511,225	V17A	probably benign	Het
Cog7	A	T	7: 121,951,164	L379Q	probably damaging	Het
Cul9	T	C	17: 46,526,410	N1044S	possibly damaging	Het
Cyp4b1	C	T	4: 115,635,874	D258N	probably damaging	Het
Ddx39	T	C	8: 83,720,550	V113A	probably benign	Het
Dennd4b	A	T	3: 90,272,364	H643L	probably damaging	Het
Dpy19l3	T	C	7: 35,714,215	T334A	probably benign	Het
Dsg3	T	C	18: 20,536,825	L632S	probably damaging	Het
Dtx4	G	A	19: 12,486,482	T312I	probably damaging	Het
Dusp18	C	T	11: 3,897,243	R78C	probably benign	Het
Fes	A	C	7: 80,383,895	F203V	probably benign	Het
Fhad1	C	A	4: 141,929,646		probably benign	Het
Gjb2	T	C	14: 57,100,069		silent	Het
Gm5828	T	C	1: 16,768,355		noncoding transcript	Het
Gsdma	A	C	11: 98,666,254	E65A	probably damaging	Het
Hck	T	A	2: 153,134,220		probably null	Het
Henmt1	A	T	3: 108,953,802	H47L	probably damaging	Het
Hivep2	T	C	10: 14,129,355	F566L	probably damaging	Het
Hnrnpl	T	C	7: 28,814,192		probably benign	Het
Igsf3	T	C	3: 101,435,601	I518T	probably damaging	Het
Ireb2	T	C	9: 54,885,909	F223L	probably benign	Het
Isoc2a	T	C	7: 4,891,332		probably null	Het
Krt73	T	A	15: 101,800,773	R200W	probably damaging	Het
Lgals9	T	A	11: 78,963,535	I308F	probably damaging	Het
Lrp1	A	G	10: 127,593,942	F420L	probably damaging	Het
Mep1b	T	C	18: 21,095,107		probably benign	Het
Mex3a	G	T	3: 88,536,255	A213S	probably benign	Het
Mmp13	T	C	9: 7,276,558	F218L	probably damaging	Het
Ncf1	G	T	5: 134,227,137		probably benign	Het
Notch2	A	G	3: 98,146,117	D2032G	probably damaging	Het
Olfr1505	A	C	19: 13,919,250	I77L	probably damaging	Het
Olfr491	A	G	7: 108,316,995	I34V	probably benign	Het
Pex16	G	A	2: 92,380,457	G312D	probably damaging	Het
Pex5	A	T	6: 124,398,489	W525R	probably damaging	Het
Plcb4	T	A	2: 135,976,211	I799N	probably damaging	Het
Poldip3	G	A	15: 83,127,943	L372F	probably damaging	Het
Polg2	C	A	11: 106,777,526	V174L	probably benign	Het
Prrt4	C	G	6: 29,170,671	G594A	probably damaging	Het
Prss1	A	G	6: 41,463,588	D199G	probably damaging	Het
Rbms2	T	A	10: 128,137,954	Q207L	probably benign	Het
Retreg2	A	G	1: 75,146,430	D334G	possibly damaging	Het
Slc6a15	T	G	10: 103,418,068	C622G	probably benign	Het
Spdya	T	A	17: 71,558,640	D84E	probably damaging	Het
Stat3	A	T	11: 100,895,156	S432T	possibly damaging	Het
Tiam1	A	T	16: 89,898,200	V123E	probably benign	Het
Tnpo3	A	G	6: 29,565,652		probably benign	Het
Tnrc6c	A	C	11: 117,752,985	N1481H	probably damaging	Het
Top3b	T	C	16: 16,883,525	S234P	probably damaging	Het
Tor1aip2	A	T	1: 156,059,548	T10S	probably benign	Het
Tpsab1	T	A	17: 25,343,444	H303L	probably benign	Het
Traf3	T	A	12: 111,261,576	V407D	probably damaging	Het
Trim33	T	A	3: 103,352,101	D1035E	probably benign	Het
Ttc38	T	C	15: 85,853,719	V402A	possibly damaging	Het
Ube4b	C	T	4: 149,355,457	R646H	possibly damaging	Het
Usp8	C	A	2: 126,755,089		probably benign	Het
Zdbf2	A	T	1: 63,308,074	I1871F	probably benign	Het
Zfp345	T	A	2: 150,472,555	Q354L	probably benign	Het
Zfp462	C	A	4: 55,023,402		probably benign	Het
Zfp81	G	A	17: 33,335,121	H240Y	possibly damaging	Het
Zfp830	A	G	11: 82,765,168	D266G	possibly damaging	Het

Other mutations in Olfr63

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01517:Olfr63	APN	17	33269655	missense	probably benign	0.00
IGL02313:Olfr63	APN	17	33269665	missense	probably benign
IGL02639:Olfr63	APN	17	33269395	missense	possibly damaging	0.96
IGL02851:Olfr63	APN	17	33269354	missense	probably benign	0.01
IGL03007:Olfr63	APN	17	33268883	missense	probably damaging	0.98
IGL03206:Olfr63	APN	17	33268751	missense	possibly damaging	0.46
R0355:Olfr63	UTSW	17	33269135	missense	probably damaging	0.98
R1115:Olfr63	UTSW	17	33268966	nonsense	probably null
R1117:Olfr63	UTSW	17	33268966	nonsense	probably null
R1567:Olfr63	UTSW	17	33269476	missense	probably benign
R1986:Olfr63	UTSW	17	33269515	missense	probably benign	0.00
R3905:Olfr63	UTSW	17	33268775	missense	probably damaging	1.00
R4612:Olfr63	UTSW	17	33269480	missense	probably benign	0.20
R5650:Olfr63	UTSW	17	33268884	missense	probably benign	0.05
R5855:Olfr63	UTSW	17	33269336	missense	possibly damaging	0.81
R6712:Olfr63	UTSW	17	33269268	missense	possibly damaging	0.76
R7873:Olfr63	UTSW	17	33269374	missense	probably benign
X0026:Olfr63	UTSW	17	33269050	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGTGTCACACCCCTCATAGGATG -3'
(R):5'- AAGTTTCCCCACAAGACCTGATTTCC -3'

Sequencing Primer
(F):5'- ATAGGATGCCTGGTCTTCATTATC -3'
(R):5'- ACACAGTTTCCTGAGACTAAGG -3'

Posted On

2013-04-16