Incidental Mutation 'IGL00264:Olfr539'
ID5100
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr539
Ensembl Gene ENSMUSG00000059136
Gene Nameolfactory receptor 539
SynonymsMOR253-4, GA_x6K02T2PBJ9-42813436-42814368
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.061) question?
Stock #IGL00264
Quality Score
Status
Chromosome7
Chromosomal Location140659930-140678580 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 140667941 bp
ZygosityHeterozygous
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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 On2012-04-20