Mutagenetix > Incidental Mutations

Incidental Mutation 'R1570:Olfr1208'

177164

Institutional Source

Beutler Lab

Gene Symbol

Olfr1208

Ensembl Gene

ENSMUSG00000075114

Gene Name

olfactory receptor 1208

Synonyms

MOR225-4, GA_x6K02T2Q125-50372411-50371485

MMRRC Submission

039609-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R1570 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88895575-88902311 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 88896946 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 217 (I217S)

Ref Sequence

ENSEMBL: ENSMUSP00000149695 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099810] [ENSMUST00000214121] [ENSMUST00000214297]

Predicted Effect

probably damaging
Transcript: ENSMUST00000099810
AA Change: I217S

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

SMART Domains

Protein: ENSMUSP00000097398
Gene: ENSMUSG00000075114
AA Change: I217S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	302	1.9e-48	PFAM
Pfam:7tm_1	38	284	2.6e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214121
AA Change: I217S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000214297
AA Change: I217S

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

Meta Mutation Damage Score

0.0384

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.0%

Validation Efficiency

93% (77/83)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apobec1	A	G	6: 122,591,085		probably null	Het
Arhgap21	G	T	2: 20,880,840	Q348K	probably benign	Het
Arl5c	A	G	11: 97,992,387	V129A	probably benign	Het
Armh1	A	G	4: 117,229,992	S159P	probably damaging	Het
Asb8	A	G	15: 98,136,428	L82P	probably damaging	Het
Bahcc1	G	A	11: 120,272,183	A436T	possibly damaging	Het
Btc	T	C	5: 91,402,717	D2G	unknown	Het
C1s2	G	A	6: 124,625,764	T490M	probably benign	Het
Caap1	C	T	4: 94,556,577	G43D	probably benign	Het
Ccr5	T	C	9: 124,124,963	V201A	probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cdhr5	C	A	7: 141,271,769	G541C	probably damaging	Het
Cep170	A	G	1: 176,755,801	I1004T	possibly damaging	Het
Chd9	A	T	8: 91,036,542	M2332L	probably benign	Het
Clk1	T	A	1: 58,414,425	H334L	probably benign	Het
Cyp4b1	G	A	4: 115,635,963	S228F	probably benign	Het
Dnah9	T	C	11: 66,112,330	N883D	probably benign	Het
Dync2h1	A	G	9: 7,176,926	L11P	probably benign	Het
Ephx4	A	G	5: 107,419,851	E225G	probably damaging	Het
Erich6	C	T	3: 58,630,659		probably null	Het
Espl1	A	G	15: 102,298,367	T89A	probably damaging	Het
Evi2	T	A	11: 79,516,250	K166N	possibly damaging	Het
Glrx5	A	G	12: 105,032,868	T57A	possibly damaging	Het
Gm15448	T	C	7: 3,823,061	E311G	probably benign	Het
Gm884	A	G	11: 103,609,938	Y597H	possibly damaging	Het
Gnptab	T	A	10: 88,419,454	V222E	probably damaging	Het
Gpr155	T	C	2: 73,370,038	Y375C	possibly damaging	Het
Hsd11b1	C	G	1: 193,240,327	E141Q	probably damaging	Het
Ildr2	T	C	1: 166,303,585	F337L	probably damaging	Het
Ino80	C	T	2: 119,447,028	R322Q	possibly damaging	Het
Lcp2	A	G	11: 34,089,601	D467G	probably benign	Het
Lmbr1	A	G	5: 29,254,558	I229T	probably damaging	Het
Lnpep	A	T	17: 17,579,156	M79K	probably damaging	Het
Lpin1	T	C	12: 16,560,998	Q564R	possibly damaging	Het
Lpin2	T	A	17: 71,245,181	L794*	probably null	Het
Lrrc45	T	C	11: 120,720,109		probably null	Het
Mtus1	A	G	8: 41,076,241	S751P	probably damaging	Het
Nbr1	T	C	11: 101,564,830		probably benign	Het
Nup107	A	G	10: 117,763,844	F592S	possibly damaging	Het
Nup133	T	A	8: 123,949,176	M1L	possibly damaging	Het
Olfr1104	A	T	2: 87,022,272	S91T	probably benign	Het
Olfr139	A	C	11: 74,044,807	F156V	possibly damaging	Het
Olfr434	T	C	6: 43,217,351	V146A	probably benign	Het
Olfr548-ps1	C	A	7: 102,541,970	H11Q	probably damaging	Het
Olfr732	T	G	14: 50,281,524	H243P	probably damaging	Het
Otud7b	T	C	3: 96,155,891	C816R	probably damaging	Het
Pi4k2a	T	C	19: 42,100,644	V148A	probably benign	Het
Pih1d2	T	C	9: 50,621,179	M195T	probably benign	Het
Plpp6	T	C	19: 28,964,778	F260L	probably damaging	Het
R3hcc1l	A	T	19: 42,581,954	T663S	probably damaging	Het
Rnf25	T	C	1: 74,595,267	E199G	probably damaging	Het
Scin	G	A	12: 40,084,381		probably benign	Het
Serpinb1c	A	T	13: 32,896,990	S37T	probably benign	Het
Snx19	A	G	9: 30,428,343	D259G	probably damaging	Het
Sorcs3	A	G	19: 48,764,181	K805R	probably damaging	Het
Sox6	C	A	7: 115,777,123	G125W	probably damaging	Het
Spink5	A	G	18: 43,967,107	I64V	probably benign	Het
St6galnac1	A	G	11: 116,766,648		probably benign	Het
Sult1c2	T	C	17: 53,836,963	I105V	probably benign	Het
Tacr3	T	G	3: 134,829,756	S162A	probably damaging	Het
Tex43	T	A	18: 56,594,534	D101E	probably benign	Het
Ttc6	T	C	12: 57,674,763	S1013P	probably damaging	Het
Zbtb11	C	A	16: 55,990,815	N445K	probably benign	Het
Zfp423	A	C	8: 87,782,558	V261G	probably benign	Het
Zfp59	T	C	7: 27,853,591	V156A	probably benign	Het
Zscan2	C	A	7: 80,863,393	A42E	probably damaging	Het

Other mutations in Olfr1208

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01340:Olfr1208	APN	2	88896977	missense	probably damaging	1.00
IGL02132:Olfr1208	APN	2	88897159	missense	probably benign
IGL02374:Olfr1208	APN	2	88897459	missense	probably damaging	1.00
R1378:Olfr1208	UTSW	2	88897026	missense	probably benign	0.01
R2056:Olfr1208	UTSW	2	88896761	missense	probably damaging	1.00
R2092:Olfr1208	UTSW	2	88897267	missense	probably damaging	0.99
R2185:Olfr1208	UTSW	2	88896703	missense	probably damaging	0.99
R5223:Olfr1208	UTSW	2	88897334	missense	probably benign	0.03
R5479:Olfr1208	UTSW	2	88896691	missense	probably benign	0.13
R6463:Olfr1208	UTSW	2	88897118	missense	probably benign	0.00
R6859:Olfr1208	UTSW	2	88896934	missense	probably benign
R7347:Olfr1208	UTSW	2	88897271	missense	possibly damaging	0.51
R7352:Olfr1208	UTSW	2	88896718	missense	probably damaging	1.00
R7544:Olfr1208	UTSW	2	88897361	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAGCAAACACCTTGTCGTCCC -3'
(R):5'- TCTCCTACAATGGCTGCATAGCCC -3'

Sequencing Primer
(F):5'- TTGTCGTCCCCAACAGAATC -3'
(R):5'- ACATCCTTGTGATAGGCTCAG -3'

Posted On

2014-04-24