Incidental Mutation 'IGL03406:Olfr539'
ID 421588
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
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # IGL03406
Quality Score
Chromosome 7
Chromosomal Location 140659930-140678580 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 140667511 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Methionine at position 68 (L68M)
Ref Sequence ENSEMBL: ENSMUSP00000151522 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078967] [ENSMUST00000210973] [ENSMUST00000218865]
AlphaFold Q8VGL9
Predicted Effect probably damaging
Transcript: ENSMUST00000078967
AA Change: L75M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077990
Gene: ENSMUSG00000059136
AA Change: L75M

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: L68M
Predicted Effect probably damaging
Transcript: ENSMUST00000218865
AA Change: L68M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012P22Rik A G 4: 144,423,844 (GRCm38) Y56H probably damaging Het
A530016L24Rik T A 12: 112,496,883 (GRCm38) probably null Het
Adcy7 C T 8: 88,318,319 (GRCm38) R228* probably null Het
Cdcp1 T C 9: 123,185,313 (GRCm38) H132R probably benign Het
Cyp4a32 T C 4: 115,602,303 (GRCm38) I78T probably benign Het
Fap A T 2: 62,542,122 (GRCm38) probably benign Het
Gad1-ps C T 10: 99,444,779 (GRCm38) noncoding transcript Het
Gli3 T C 13: 15,648,581 (GRCm38) I296T probably damaging Het
H2-Q2 T C 17: 35,342,825 (GRCm38) V97A probably benign Het
Hr T A 14: 70,563,420 (GRCm38) probably null Het
Itgax C T 7: 128,149,198 (GRCm38) T1133I possibly damaging Het
L3mbtl2 G A 15: 81,681,993 (GRCm38) R339H probably damaging Het
Mast4 T C 13: 102,737,107 (GRCm38) K1726E possibly damaging Het
Nlrc5 T C 8: 94,476,855 (GRCm38) Y528H probably benign Het
Nmnat3 G A 9: 98,399,477 (GRCm38) G44D probably damaging Het
Nol8 A T 13: 49,661,568 (GRCm38) D366V probably damaging Het
Pde4d A T 13: 109,954,591 (GRCm38) probably benign Het
Ptpn22 C A 3: 103,912,016 (GRCm38) N795K probably benign Het
Rabgap1l A T 1: 160,722,169 (GRCm38) V289D probably damaging Het
Slc50a1 T C 3: 89,270,101 (GRCm38) D40G possibly damaging Het
Slco6b1 T C 1: 96,947,585 (GRCm38) noncoding transcript Het
Smarcad1 T A 6: 65,092,526 (GRCm38) F530Y probably damaging Het
Spag6 A G 2: 18,742,873 (GRCm38) probably benign Het
Supt16 A T 14: 52,178,141 (GRCm38) I379N possibly damaging Het
Tmem154 A G 3: 84,684,260 (GRCm38) N39S probably benign Het
Ubash3b T A 9: 41,037,479 (GRCm38) Y180F probably damaging Het
Usp48 T A 4: 137,639,295 (GRCm38) D921E possibly damaging Het
Zdhhc20 T C 14: 57,839,099 (GRCm38) T366A probably benign Het
Zfp456 A T 13: 67,366,331 (GRCm38) C419S probably damaging Het
Zfp69 T C 4: 120,931,084 (GRCm38) T345A probably benign Het
Other mutations in Olfr539
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00264:Olfr539 APN 7 140,667,941 (GRCm38) missense probably benign 0.01
IGL01610:Olfr539 APN 7 140,667,671 (GRCm38) missense probably damaging 1.00
IGL02959:Olfr539 APN 7 140,667,550 (GRCm38) missense probably damaging 1.00
R0671:Olfr539 UTSW 7 140,667,677 (GRCm38) missense probably damaging 1.00
R1771:Olfr539 UTSW 7 140,668,135 (GRCm38) missense probably benign
R1934:Olfr539 UTSW 7 140,668,038 (GRCm38) nonsense probably null
R1985:Olfr539 UTSW 7 140,667,821 (GRCm38) missense probably damaging 1.00
R2962:Olfr539 UTSW 7 140,667,949 (GRCm38) missense probably benign
R4239:Olfr539 UTSW 7 140,667,583 (GRCm38) missense probably benign 0.07
R4240:Olfr539 UTSW 7 140,667,583 (GRCm38) missense probably benign 0.07
R4360:Olfr539 UTSW 7 140,667,817 (GRCm38) missense probably damaging 0.98
R4841:Olfr539 UTSW 7 140,667,589 (GRCm38) missense probably damaging 1.00
R4842:Olfr539 UTSW 7 140,667,589 (GRCm38) missense probably damaging 1.00
R4851:Olfr539 UTSW 7 140,667,313 (GRCm38) missense probably benign
R5325:Olfr539 UTSW 7 140,667,792 (GRCm38) missense probably benign 0.33
R5766:Olfr539 UTSW 7 140,667,353 (GRCm38) missense probably benign 0.02
R6363:Olfr539 UTSW 7 140,668,082 (GRCm38) missense possibly damaging 0.93
R6836:Olfr539 UTSW 7 140,668,180 (GRCm38) missense possibly damaging 0.86
R7777:Olfr539 UTSW 7 140,667,941 (GRCm38) missense probably benign 0.01
R7920:Olfr539 UTSW 7 140,667,901 (GRCm38) missense possibly damaging 0.92
R8134:Olfr539 UTSW 7 140,667,767 (GRCm38) missense possibly damaging 0.90
R8712:Olfr539 UTSW 7 140,668,139 (GRCm38) missense possibly damaging 0.89
R9095:Olfr539 UTSW 7 140,667,900 (GRCm38) missense probably damaging 1.00
R9158:Olfr539 UTSW 7 140,667,634 (GRCm38) missense possibly damaging 0.76
R9603:Olfr539 UTSW 7 140,667,881 (GRCm38) missense probably damaging 1.00
Posted On 2016-08-02