Incidental Mutation 'IGL01328:Olfr1285'
ID74361
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: 0.059) question?
Stock #IGL01328
Quality Score
Status
Chromosome2
Chromosomal Location111408376-111409331 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 111409219 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 268 (Y268C)
Gene Model predicted gene model for transcript(s):
Predicted Effect probably damaging
Transcript: ENSMUST00000150164
AA Change: Y268C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000121467
Gene: ENSMUSG00000062280
AA Change: Y268C

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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 C T 18: 59,048,882 S1131F possibly damaging Het
Alg14 G A 3: 121,361,583 V151I probably benign Het
Ano5 G A 7: 51,556,271 probably null Het
Arhgef28 A T 13: 97,970,323 C698S probably damaging Het
Cacnb4 T C 2: 52,464,625 H247R probably damaging Het
Clec12b A T 6: 129,379,554 W216R probably damaging Het
Clnk C T 5: 38,784,528 S35N possibly damaging Het
Cnot4 T A 6: 35,078,114 N80I probably damaging Het
Cntn5 C T 9: 9,781,768 M635I probably damaging Het
Dlg5 A G 14: 24,202,351 V107A probably damaging Het
Dsc2 A T 18: 20,048,286 F155I probably damaging Het
Dtwd1 A G 2: 126,164,819 I254V probably damaging Het
Dzip3 A T 16: 48,972,258 D221E probably damaging Het
F13b T A 1: 139,508,082 probably benign Het
Fam131b G A 6: 42,318,272 L324F probably damaging Het
Fam83a A T 15: 57,986,505 R148S probably damaging Het
Farsb T C 1: 78,471,092 I236V probably benign Het
Fat4 T A 3: 38,980,658 F2820I probably damaging Het
Fat4 T A 3: 38,889,991 V1011E probably damaging Het
Fgf7 A G 2: 126,088,244 E99G probably damaging Het
Fign T C 2: 63,978,872 T685A probably damaging Het
Fubp1 G A 3: 152,220,218 G289E probably damaging Het
Gata6 G T 18: 11,064,530 M477I probably damaging Het
Gm14496 A G 2: 181,995,880 Y249C probably damaging Het
Hectd1 T C 12: 51,761,121 D1768G probably damaging Het
Htatip2 T A 7: 49,770,949 probably null Het
Irs2 C A 8: 11,004,792 Q1213H probably damaging Het
Jak3 C T 8: 71,679,620 R210C probably damaging Het
Klk1b27 T C 7: 44,055,879 S157P probably damaging Het
Klri1 T C 6: 129,698,837 S157G probably damaging Het
Mtmr2 G T 9: 13,801,927 G395* probably null Het
Mx1 T A 16: 97,455,632 I116F probably damaging Het
Oip5 A C 2: 119,611,833 M200R possibly damaging Het
Olfr1118 T A 2: 87,309,581 L284Q possibly damaging Het
Olfr1512 T C 14: 52,372,510 D181G probably damaging Het
Olfr32 T C 2: 90,139,074 K22E probably benign Het
Pamr1 T A 2: 102,642,137 S594T probably benign Het
Phf13 C T 4: 151,995,828 E13K probably benign Het
Plekha6 A T 1: 133,272,336 probably null Het
Rad17 A C 13: 100,617,803 N636K probably benign Het
Rad21 T A 15: 51,973,124 D217V probably damaging Het
Slc7a10 A G 7: 35,186,492 D4G possibly damaging Het
Stc1 A G 14: 69,038,277 D173G probably benign Het
Supt16 C T 14: 52,177,032 E438K probably benign Het
Tex15 C T 8: 33,571,396 Q559* probably null Het
Trim44 T A 2: 102,400,020 E222V probably benign Het
Ubr5 T C 15: 37,981,523 E2343G possibly damaging Het
Vmn2r86 T C 10: 130,452,496 T379A possibly damaging Het
Vmn2r93 A G 17: 18,325,557 T564A probably benign Het
Vsir C A 10: 60,367,760 probably benign Het
Vwc2l T A 1: 70,729,004 probably null Het
Xrn2 T C 2: 147,029,930 V396A possibly damaging Het
Zbbx T A 3: 75,093,075 K208* probably null Het
Zfhx4 C A 3: 5,244,284 L857M probably damaging Het
Zfp180 A G 7: 24,101,479 D53G probably benign Het
Other mutations in Olfr1285
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01819:Olfr1285 APN 2 111408733 missense probably damaging 0.99
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 On2013-10-07