Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02731:Olfr1289'

305451

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Olfr1289

Ensembl Gene

ENSMUSG00000061195

Gene Name

olfactory receptor 1289

Synonyms

GA_x6K02T2Q125-72534883-72535821, MOR245-6

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

IGL02731

Quality Score

Status

Chromosome

Chromosomal Location

111480819-111484615 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 111483528 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 33 (I33L)

Ref Sequence

ENSEMBL: ENSMUSP00000147119 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000104889] [ENSMUST00000120021] [ENSMUST00000207494] [ENSMUST00000214816] [ENSMUST00000217611]

Predicted Effect

probably benign
Transcript: ENSMUST00000104889

SMART Domains

Protein: ENSMUSP00000100485
Gene: ENSMUSG00000044039

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	304	1.3e-43	PFAM
Pfam:7tm_1	41	287	2.5e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120021
AA Change: I61L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000207494
AA Change: I33L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000214816

Predicted Effect

probably benign
Transcript: ENSMUST00000217611

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225425

Coding Region Coverage

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap10	A	T	11: 61,893,476	D515E	possibly damaging	Het
Ankrd13b	A	T	11: 77,476,219	S9R	probably damaging	Het
Ano9	G	A	7: 141,107,204	A374V	probably damaging	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Cep78	T	A	19: 15,956,306	H636L	probably benign	Het
Chd2	A	G	7: 73,493,456	V563A	probably damaging	Het
Cndp1	G	T	18: 84,631,958	D203E	probably damaging	Het
Col16a1	G	A	4: 130,053,530		probably benign	Het
Copa	T	C	1: 172,102,218	V284A	possibly damaging	Het
Dlec1	A	G	9: 119,147,120	T1656A	probably benign	Het
Dopey1	T	C	9: 86,487,381	I89T	probably damaging	Het
Eif2ak4	T	C	2: 118,388,814	S36P	probably benign	Het
Ep300	A	T	15: 81,648,414	I1618F	unknown	Het
Fan1	G	A	7: 64,372,993	L171F	possibly damaging	Het
Fancm	A	G	12: 65,088,305	T291A	probably benign	Het
Gm14325	T	C	2: 177,832,986	K101R	probably damaging	Het
Hmx3	A	T	7: 131,543,963		probably null	Het
Htt	G	T	5: 34,803,793	V255L	probably benign	Het
L3mbtl3	C	T	10: 26,344,176		probably null	Het
Lmbr1l	A	G	15: 98,917,896	L9P	probably damaging	Het
Lyzl6	A	T	11: 103,635,077	Y72*	probably null	Het
Mib1	A	G	18: 10,800,115	E818G	possibly damaging	Het
Neb	T	C	2: 52,160,703	T6405A	probably damaging	Het
Npas3	A	G	12: 54,067,795	D482G	probably benign	Het
Nuak2	C	A	1: 132,316,357	A43E	probably damaging	Het
Olfr1123	G	A	2: 87,418,707	V220I	probably benign	Het
Olfr1242	T	C	2: 89,493,457	Y285C	probably damaging	Het
Olfr1434	T	C	19: 12,283,842	S265P	probably damaging	Het
Pde11a	C	A	2: 75,991,239	A899S	probably benign	Het
Ppfibp2	A	T	7: 107,746,422	I884F	possibly damaging	Het
Pus7l	A	G	15: 94,523,464	V655A	probably benign	Het
Rad51ap2	A	G	12: 11,456,896	D273G	probably damaging	Het
Rc3h2	T	C	2: 37,382,811	D751G	probably benign	Het
Sdk1	C	T	5: 142,172,544	A1863V	probably damaging	Het
Spns3	T	C	11: 72,529,577	Y361C	probably damaging	Het
Srp72	T	A	5: 76,994,215	I372N	probably damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Tcf20	A	G	15: 82,853,237	S1338P	probably benign	Het
Tcte1	G	A	17: 45,539,886	V363I	probably benign	Het
Vmn1r42	T	C	6: 89,845,425	K54R	probably benign	Het
Vps13b	A	G	15: 35,917,128	N3706S	probably benign	Het
Vwde	T	C	6: 13,192,614	Y430C	probably damaging	Het
Wdr55	A	G	18: 36,763,382	E375G	probably benign	Het
Zfp959	G	A	17: 55,895,956		probably benign	Het

Other mutations in Olfr1289

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01149:Olfr1289	APN	2	111484101	missense	probably damaging	1.00
IGL01682:Olfr1289	APN	2	111483843	missense	probably damaging	1.00
IGL02028:Olfr1289	APN	2	111483471	missense	probably benign	0.01
IGL03035:Olfr1289	APN	2	111483823	missense	probably benign	0.04
R1214:Olfr1289	UTSW	2	111483892	missense	probably damaging	1.00
R1471:Olfr1289	UTSW	2	111484006	missense	probably damaging	1.00
R1714:Olfr1289	UTSW	2	111483663	missense	probably damaging	1.00
R2088:Olfr1289	UTSW	2	111484278	missense	probably damaging	1.00
R2136:Olfr1289	UTSW	2	111483616	missense	probably damaging	1.00
R2141:Olfr1289	UTSW	2	111483630	missense	probably benign	0.23
R3945:Olfr1289	UTSW	2	111483687	nonsense	probably null
R4276:Olfr1289	UTSW	2	111483504	missense	probably damaging	1.00
R4562:Olfr1289	UTSW	2	111483564	missense	probably benign	0.00
R4896:Olfr1289	UTSW	2	111483660	missense	possibly damaging	0.82
R4946:Olfr1289	UTSW	2	111483966	missense	possibly damaging	0.93
R5004:Olfr1289	UTSW	2	111483660	missense	possibly damaging	0.82
R5686:Olfr1289	UTSW	2	111484143	missense	probably damaging	1.00
R6032:Olfr1289	UTSW	2	111483850	missense	probably damaging	1.00
R6032:Olfr1289	UTSW	2	111483850	missense	probably damaging	1.00
R6960:Olfr1289	UTSW	2	111483726	missense	possibly damaging	0.70
R7293:Olfr1289	UTSW	2	111483354	splice site	probably null
R7642:Olfr1289	UTSW	2	111483478	missense	probably damaging	0.96
R8429:Olfr1289	UTSW	2	111483495	missense	possibly damaging	0.55
R8447:Olfr1289	UTSW	2	111483756	missense	probably damaging	1.00

Posted On

2015-04-16