Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00264:Olfr539'

5100

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Olfr539

Ensembl Gene

ENSMUSG00000059136

Gene Name

olfactory receptor 539

Synonyms

MOR253-4, GA_x6K02T2PBJ9-42813436-42814368

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

IGL00264

Quality Score

Status

Chromosome

Chromosomal Location

140659930-140678580 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 140667941 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 211 (I211N)

Ref Sequence

ENSEMBL: ENSMUSP00000151522 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078967] [ENSMUST00000210973] [ENSMUST00000218865]

Predicted Effect

probably benign
Transcript: ENSMUST00000078967
AA Change: I218N

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000077990
Gene: ENSMUSG00000059136
AA Change: I218N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	40	316	6.5e-50	PFAM
Pfam:7tm_1	50	299	4.9e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210499

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210973
AA Change: I211N

Predicted Effect

probably benign
Transcript: ENSMUST00000218865
AA Change: I211N

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219579

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219853

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110002H16Rik	T	C	18: 12,179,219	V172A	probably benign	Het
Actr3	T	G	1: 125,397,229	I319L	probably benign	Het
Akap7	C	T	10: 25,171,240	D20N	probably benign	Het
Ambra1	T	A	2: 91,911,589	S1070T	probably benign	Het
Arhgef9	T	C	X: 95,081,631		probably null	Het
Ascc3	T	G	10: 50,714,435	V1083G	probably damaging	Het
Asns	T	A	6: 7,680,179	E312D	probably damaging	Het
Bpifc	A	C	10: 85,960,528	V472G	possibly damaging	Het
Ccdc71	T	A	9: 108,463,038	S17T	probably damaging	Het
Cebpzos	T	C	17: 78,918,348		probably benign	Het
Cfi	T	C	3: 129,873,095	I489T	probably damaging	Het
Chrm2	T	A	6: 36,523,391	F61Y	probably damaging	Het
Cpxm1	T	C	2: 130,395,943	Y149C	probably damaging	Het
Dnah6	A	G	6: 73,195,737	I246T	probably benign	Het
Ereg	C	A	5: 91,074,779	S7Y	probably benign	Het
Ghsr	T	A	3: 27,374,873	L349Q	possibly damaging	Het
Gm10754	A	G	10: 97,682,412		probably benign	Het
Gm8237	A	T	14: 5,864,475	L29H	probably benign	Het
Hexim2	A	G	11: 103,138,455	E111G	probably damaging	Het
Itga1	A	T	13: 114,992,363	N586K	possibly damaging	Het
Kat6b	A	G	14: 21,668,559	D1102G	probably benign	Het
Kif27	A	T	13: 58,337,604	M514K	probably benign	Het
Matn2	T	C	15: 34,428,470	I660T	probably damaging	Het
Mki67	C	A	7: 135,707,820	G301*	probably null	Het
Olfr1451	A	G	19: 12,999,319	Y111C	probably damaging	Het
Olfr1480	A	C	19: 13,529,850	Y103S	probably damaging	Het
Olfr364-ps1	T	C	2: 37,147,067	F285S	probably damaging	Het
Pcdhb8	A	T	18: 37,355,473	H68L	probably benign	Het
Pkhd1l1	T	C	15: 44,491,029	V272A	possibly damaging	Het
Pstpip2	T	C	18: 77,871,559		probably benign	Het
Rdh14	G	T	12: 10,391,134	G99W	probably damaging	Het
Sra1	A	T	18: 36,668,739	S99R	probably benign	Het
Tbrg1	G	T	9: 37,651,041	N280K	probably benign	Het
Ugt8a	A	G	3: 125,914,636		probably null	Het
Usp40	A	T	1: 88,004,238		probably benign	Het
Vmn1r45	T	A	6: 89,933,664	Y108F	probably damaging	Het
Zfp521	A	G	18: 13,846,502	Y285H	probably benign	Het

Other mutations in Olfr539

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01610:Olfr539	APN	7	140667671	missense	probably damaging	1.00
IGL02959:Olfr539	APN	7	140667550	missense	probably damaging	1.00
IGL03406:Olfr539	APN	7	140667511	missense	probably damaging	1.00
R0671:Olfr539	UTSW	7	140667677	missense	probably damaging	1.00
R1771:Olfr539	UTSW	7	140668135	missense	probably benign
R1934:Olfr539	UTSW	7	140668038	nonsense	probably null
R1985:Olfr539	UTSW	7	140667821	missense	probably damaging	1.00
R2962:Olfr539	UTSW	7	140667949	missense	probably benign
R4239:Olfr539	UTSW	7	140667583	missense	probably benign	0.07
R4240:Olfr539	UTSW	7	140667583	missense	probably benign	0.07
R4360:Olfr539	UTSW	7	140667817	missense	probably damaging	0.98
R4841:Olfr539	UTSW	7	140667589	missense	probably damaging	1.00
R4842:Olfr539	UTSW	7	140667589	missense	probably damaging	1.00
R4851:Olfr539	UTSW	7	140667313	missense	probably benign
R5325:Olfr539	UTSW	7	140667792	missense	probably benign	0.33
R5766:Olfr539	UTSW	7	140667353	missense	probably benign	0.02
R6363:Olfr539	UTSW	7	140668082	missense	possibly damaging	0.93
R6836:Olfr539	UTSW	7	140668180	missense	possibly damaging	0.86
R7777:Olfr539	UTSW	7	140667941	missense	probably benign	0.01

Posted On

2012-04-20