Incidental Mutation 'IGL01819:Or4k39'
ID 154456
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4k39
Ensembl Gene ENSMUSG00000062280
Gene Name olfactory receptor family 4 subfamily K member 39, pseudogene 1
Synonyms GA_x6K02T2Q125-72459956-72460837, MOR248-25_p, MOR248-17P, Olfr1285
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # IGL01819
Quality Score
Status
Chromosome 2
Chromosomal Location 111238802-111239643 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 111239078 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 106 (V106E)
Gene Model predicted gene model for transcript(s):
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000150164
AA Change: V106E

PolyPhen 2 Score 0.990 (Sensitivity: 0.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000121467
Gene: ENSMUSG00000062280
AA Change: V106E

DomainStartEndE-ValueType
Pfam:7tm_4 24 293 2.9e-40 PFAM
Pfam:7tm_1 34 280 1.8e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208523
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220153
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adora2b A G 11: 62,156,010 (GRCm39) N153S possibly damaging Het
Afm C T 5: 90,672,765 (GRCm39) T200I probably benign Het
Cyp2c67 T C 19: 39,604,165 (GRCm39) D397G probably damaging Het
Dnah9 A G 11: 65,998,952 (GRCm39) V1032A probably benign Het
Elovl7 T G 13: 108,410,854 (GRCm39) V143G probably damaging Het
Fhl4 T C 10: 84,934,734 (GRCm39) K16E probably damaging Het
Golga1 C T 2: 38,924,161 (GRCm39) C383Y probably benign Het
Gucy1a2 C T 9: 3,865,409 (GRCm39) R628* probably null Het
Hectd4 A G 5: 121,466,481 (GRCm39) D2432G possibly damaging Het
Iqcf5 T A 9: 106,393,189 (GRCm39) *149R probably null Het
Kcnab1 T A 3: 65,226,875 (GRCm39) Y185N probably damaging Het
Lars1 G T 18: 42,335,615 (GRCm39) T1167K probably benign Het
Mib2 A T 4: 155,739,715 (GRCm39) probably null Het
Mrps2 T C 2: 28,358,348 (GRCm39) V46A probably benign Het
Myo18b T C 5: 113,025,916 (GRCm39) T45A unknown Het
Myo1e C T 9: 70,250,322 (GRCm39) probably benign Het
Or10ag59 A G 2: 87,405,823 (GRCm39) I132V probably damaging Het
Osbp2 A T 11: 3,667,127 (GRCm39) I8N probably damaging Het
Pcdhb22 A T 18: 37,652,974 (GRCm39) N481Y probably damaging Het
Pde3a T C 6: 141,433,263 (GRCm39) W765R probably damaging Het
Phf11c T C 14: 59,630,586 (GRCm39) T40A probably benign Het
Pih1d2 T A 9: 50,533,177 (GRCm39) S268R probably benign Het
Pkd1l2 T C 8: 117,724,913 (GRCm39) N2333D probably damaging Het
Prex1 A G 2: 166,463,165 (GRCm39) I62T probably damaging Het
Ptcd2 T C 13: 99,463,219 (GRCm39) N245S possibly damaging Het
Ripor3 C A 2: 167,822,763 (GRCm39) V933F probably damaging Het
Sanbr A G 11: 23,534,561 (GRCm39) S105P probably benign Het
Sphk2 A G 7: 45,360,480 (GRCm39) probably null Het
Tfcp2 T G 15: 100,402,320 (GRCm39) E492D probably benign Het
Ttn C T 2: 76,629,106 (GRCm39) V14411I possibly damaging Het
Utp20 T C 10: 88,628,549 (GRCm39) Q915R probably damaging Het
Vmn2r45 C A 7: 8,488,556 (GRCm39) S158I probably benign Het
Other mutations in Or4k39
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01328:Or4k39 APN 2 111,239,564 (GRCm39) missense probably damaging 1.00
IGL02109:Or4k39 APN 2 111,238,838 (GRCm39) exon noncoding transcript
IGL02407:Or4k39 APN 2 111,238,923 (GRCm39) exon noncoding transcript
R0054:Or4k39 UTSW 2 111,239,140 (GRCm39) missense probably benign 0.00
R1665:Or4k39 UTSW 2 111,239,098 (GRCm39) missense probably damaging 1.00
R2339:Or4k39 UTSW 2 111,239,534 (GRCm39) missense probably benign 0.36
R3876:Or4k39 UTSW 2 111,238,967 (GRCm39) missense possibly damaging 0.57
R4260:Or4k39 UTSW 2 111,238,850 (GRCm39) exon noncoding transcript
R4439:Or4k39 UTSW 2 111,239,653 (GRCm39) exon noncoding transcript
R4762:Or4k39 UTSW 2 111,239,225 (GRCm39) exon noncoding transcript
R4821:Or4k39 UTSW 2 111,239,570 (GRCm39) exon noncoding transcript
R5120:Or4k39 UTSW 2 111,239,585 (GRCm39) exon noncoding transcript
R5215:Or4k39 UTSW 2 111,239,631 (GRCm39) exon noncoding transcript
R5244:Or4k39 UTSW 2 111,238,899 (GRCm39) exon noncoding transcript
R5667:Or4k39 UTSW 2 111,238,818 (GRCm39) exon noncoding transcript
R5671:Or4k39 UTSW 2 111,238,818 (GRCm39) exon noncoding transcript
R5687:Or4k39 UTSW 2 111,239,033 (GRCm39) exon noncoding transcript
Posted On 2014-02-04