Incidental Mutation 'R4240:Olfr539'
ID 320169
Institutional Source Beutler Lab
Gene Symbol Olfr539
Ensembl Gene ENSMUSG00000059136
Gene Name olfactory receptor 539
Synonyms MOR253-4, GA_x6K02T2PBJ9-42813436-42814368
MMRRC Submission 041057-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R4240 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 140659930-140678580 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 140667583 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 99 (N99D)
Ref Sequence ENSEMBL: ENSMUSP00000077990 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078967] [ENSMUST00000210973] [ENSMUST00000218865]
AlphaFold Q8VGL9
Predicted Effect probably benign
Transcript: ENSMUST00000078967
AA Change: N99D

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000077990
Gene: ENSMUSG00000059136
AA Change: N99D

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: N92D
Predicted Effect probably benign
Transcript: ENSMUST00000218865
AA Change: N92D

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219579
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219853
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 93% (50/54)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310050C09Rik T C 3: 92,868,591 (GRCm38) I262V possibly damaging Het
4833420G17Rik C T 13: 119,466,942 (GRCm38) P93S probably benign Het
4930488N24Rik A T 17: 14,105,787 (GRCm38) noncoding transcript Het
Areg A T 5: 91,143,516 (GRCm38) N106I probably damaging Het
Ceacam3 G A 7: 17,160,024 (GRCm38) E487K possibly damaging Het
Cfap46 G T 7: 139,666,287 (GRCm38) Q387K possibly damaging Het
Cfap74 C A 4: 155,463,072 (GRCm38) H1238Q probably benign Het
Cnot6l T C 5: 96,077,362 (GRCm38) T491A probably benign Het
Cog7 C T 7: 121,925,484 (GRCm38) V696M possibly damaging Het
Col22a1 C T 15: 72,007,131 (GRCm38) G59D probably damaging Het
Ddi1 A G 9: 6,265,799 (GRCm38) M190T probably benign Het
Eno1b T A 18: 48,047,840 (GRCm38) S362T probably benign Het
Erbb2 A G 11: 98,428,043 (GRCm38) K549R probably benign Het
Fam170a A T 18: 50,281,667 (GRCm38) M127L possibly damaging Het
Gm17677 T A 9: 35,742,153 (GRCm38) Y84* probably null Het
Gm1979 T C 5: 26,001,121 (GRCm38) T154A probably benign Het
Gm6871 G T 7: 41,545,780 (GRCm38) T511K probably damaging Het
Hsf4 A G 8: 105,274,881 (GRCm38) T378A possibly damaging Het
Irf2bpl C A 12: 86,882,917 (GRCm38) Q327H possibly damaging Het
Klk6 A G 7: 43,829,173 (GRCm38) H168R probably benign Het
Kmt2d G A 15: 98,844,571 (GRCm38) probably benign Het
Lad1 T A 1: 135,827,295 (GRCm38) V103D possibly damaging Het
Mcm4 A T 16: 15,627,706 (GRCm38) Y692* probably null Het
Med15 C T 16: 17,655,494 (GRCm38) R497H probably damaging Het
Mfrp T C 9: 44,102,866 (GRCm38) V177A possibly damaging Het
Mr1 T C 1: 155,136,667 (GRCm38) E167G probably damaging Het
Myo18b A G 5: 112,803,187 (GRCm38) probably null Het
Myom2 A G 8: 15,132,895 (GRCm38) D1444G probably benign Het
Nes C A 3: 87,979,359 (GRCm38) P1598T probably damaging Het
Nlrp4d A T 7: 10,381,316 (GRCm38) H479Q noncoding transcript Het
Nphp4 A G 4: 152,555,684 (GRCm38) D1009G probably benign Het
Phactr1 T A 13: 43,094,887 (GRCm38) N437K possibly damaging Het
Polq G T 16: 37,013,181 (GRCm38) V79F probably damaging Het
Prc1 G A 7: 80,311,216 (GRCm38) probably benign Het
Rdh7 T C 10: 127,885,802 (GRCm38) I202V probably benign Het
Rsf1 C CGGCGGCGGT 7: 97,579,935 (GRCm38) probably benign Het
Sgsm3 A G 15: 81,011,782 (GRCm38) probably benign Het
Sipa1l2 T C 8: 125,491,656 (GRCm38) E314G probably benign Het
Slc8a3 T C 12: 81,315,176 (GRCm38) K290E probably damaging Het
Tbc1d17 T C 7: 44,846,826 (GRCm38) Y84C probably damaging Het
Usp46 T G 5: 74,032,267 (GRCm38) probably benign Het
Vmn2r14 T G 5: 109,216,411 (GRCm38) probably null Het
Vmn2r8 A T 5: 108,797,503 (GRCm38) V746D probably damaging Het
Xdh A G 17: 73,895,795 (GRCm38) V1120A possibly damaging Het
Zfp791 T C 8: 85,109,666 (GRCm38) H523R probably null Het
Zfp870 A G 17: 32,885,736 (GRCm38) I53T 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
IGL03406:Olfr539 APN 7 140,667,511 (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
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-06-12