Incidental Mutation 'IGL01819:Olfr1285'
ID154456
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1285
Ensembl Gene ENSMUSG00000062280
Gene Nameolfactory receptor 1285
SynonymsMOR248-17P, MOR248-25_p, GA_x6K02T2Q125-72459956-72460837
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.073) question?
Stock #IGL01819
Quality Score
Status
Chromosome2
Chromosomal Location111408376-111409331 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 111408733 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 106 (V106E)
Gene Model predicted gene model for transcript(s):
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
0610010F05Rik A G 11: 23,584,561 S105P probably benign Het
Adora2b A G 11: 62,265,184 N153S possibly damaging Het
Afm C T 5: 90,524,906 T200I probably benign Het
Cyp2c67 T C 19: 39,615,721 D397G probably damaging Het
Dnah9 A G 11: 66,108,126 V1032A probably benign Het
Elovl7 T G 13: 108,274,320 V143G probably damaging Het
Fhl4 T C 10: 85,098,870 K16E probably damaging Het
Golga1 C T 2: 39,034,149 C383Y probably benign Het
Gucy1a2 C T 9: 3,865,409 R628* probably null Het
Hectd4 A G 5: 121,328,418 D2432G possibly damaging Het
Iqcf5 T A 9: 106,515,990 *149R probably null Het
Kcnab1 T A 3: 65,319,454 Y185N probably damaging Het
Lars G T 18: 42,202,550 T1167K probably benign Het
Mib2 A T 4: 155,655,258 probably null Het
Mrps2 T C 2: 28,468,336 V46A probably benign Het
Myo18b T C 5: 112,878,050 T45A unknown Het
Myo1e C T 9: 70,343,040 probably benign Het
Olfr1129 A G 2: 87,575,479 I132V probably damaging Het
Osbp2 A T 11: 3,717,127 I8N probably damaging Het
Pcdhb22 A T 18: 37,519,921 N481Y probably damaging Het
Pde3a T C 6: 141,487,537 W765R probably damaging Het
Phf11c T C 14: 59,393,137 T40A probably benign Het
Pih1d2 T A 9: 50,621,877 S268R probably benign Het
Pkd1l2 T C 8: 116,998,174 N2333D probably damaging Het
Prex1 A G 2: 166,621,245 I62T probably damaging Het
Ptcd2 T C 13: 99,326,711 N245S possibly damaging Het
Ripor3 C A 2: 167,980,843 V933F probably damaging Het
Sphk2 A G 7: 45,711,056 probably null Het
Tfcp2 T G 15: 100,504,439 E492D probably benign Het
Ttn C T 2: 76,798,762 V14411I possibly damaging Het
Utp20 T C 10: 88,792,687 Q915R probably damaging Het
Vmn2r45 C A 7: 8,485,557 S158I probably benign Het
Other mutations in Olfr1285
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01328:Olfr1285 APN 2 111409219 missense probably damaging 1.00
IGL02109:Olfr1285 APN 2 111408493 exon noncoding transcript
IGL02407:Olfr1285 APN 2 111408578 exon noncoding transcript
R0054:Olfr1285 UTSW 2 111408795 missense probably benign 0.00
R1665:Olfr1285 UTSW 2 111408753 missense probably damaging 1.00
R2339:Olfr1285 UTSW 2 111409189 missense probably benign 0.36
R3876:Olfr1285 UTSW 2 111408622 missense possibly damaging 0.57
R4260:Olfr1285 UTSW 2 111408505 exon noncoding transcript
R4439:Olfr1285 UTSW 2 111409308 exon noncoding transcript
R4762:Olfr1285 UTSW 2 111408880 exon noncoding transcript
R4821:Olfr1285 UTSW 2 111409225 exon noncoding transcript
R5120:Olfr1285 UTSW 2 111409240 exon noncoding transcript
R5215:Olfr1285 UTSW 2 111409286 exon noncoding transcript
R5244:Olfr1285 UTSW 2 111408554 exon noncoding transcript
R5667:Olfr1285 UTSW 2 111408473 exon noncoding transcript
R5671:Olfr1285 UTSW 2 111408473 exon noncoding transcript
R5687:Olfr1285 UTSW 2 111408688 exon noncoding transcript
Posted On2014-02-04