Incidental Mutation 'IGL01813:Olfr282'
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ID154309
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr282
Ensembl Gene ENSMUSG00000063780
Gene Nameolfactory receptor 282
SynonymsMOR160-2, GA_x6K02T2NBG7-5293798-5292872
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.059) question?
Stock #IGL01813
Quality Score
Status
Chromosome15
Chromosomal Location98431225-98438638 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 98437649 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 60 (Y60C)
Ref Sequence ENSEMBL: ENSMUSP00000151156 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075851] [ENSMUST00000205491] [ENSMUST00000213608] [ENSMUST00000215320]
Predicted Effect possibly damaging
Transcript: ENSMUST00000075851
AA Change: Y60C

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000075248
Gene: ENSMUSG00000063780
AA Change: Y60C

DomainStartEndE-ValueType
Pfam:7tm_4 31 306 7.6e-55 PFAM
Pfam:7TM_GPCR_Srsx 35 217 5.7e-6 PFAM
Pfam:7tm_1 41 288 2.2e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205491
Predicted Effect possibly damaging
Transcript: ENSMUST00000213608
AA Change: Y60C

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215320
AA Change: Y60C

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
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
4932438A13Rik G A 3: 36,928,520 S778N possibly damaging Het
Abcb11 T A 2: 69,287,592 probably benign Het
Adgrb2 T C 4: 130,012,566 V929A probably benign Het
Aldh2 T C 5: 121,572,073 I400V probably benign Het
Atxn2l T C 7: 126,500,253 D84G probably damaging Het
Avpr1a T A 10: 122,449,011 N69K probably damaging Het
BC022687 C T 12: 112,815,559 T272M probably damaging Het
BC034090 G A 1: 155,226,339 Q60* probably null Het
Bub3 T C 7: 131,568,633 S295P probably benign Het
Cacna1b T C 2: 24,609,890 S161G probably damaging Het
Col6a4 T A 9: 106,077,253 S296C probably damaging Het
Cyp4f15 G A 17: 32,686,157 R38H probably benign Het
Dync2h1 T C 9: 7,122,799 I2052M probably damaging Het
Gm11627 T C 11: 102,578,808 probably benign Het
Jmjd8 A T 17: 25,829,238 probably null Het
Kmt2c A G 5: 25,290,804 V629A possibly damaging Het
Kremen1 T C 11: 5,199,667 T335A probably benign Het
Olfr109 A G 17: 37,466,758 E184G probably damaging Het
Oosp2 T C 19: 11,651,483 T85A probably benign Het
Pex5l T C 3: 33,082,055 E5G probably benign Het
Pigk A T 3: 152,742,519 Q173L probably damaging Het
Pik3c2g T A 6: 139,622,409 N174K possibly damaging Het
Plb1 C T 5: 32,329,085 H893Y probably damaging Het
Pus7 T C 5: 23,760,304 probably benign Het
R3hdm1 G A 1: 128,175,233 probably null Het
Samd7 C T 3: 30,754,286 P83S probably benign Het
Supt5 T A 7: 28,323,975 Y293F probably damaging Het
Tbc1d30 T C 10: 121,267,051 D692G probably benign Het
Tmpo G A 10: 91,163,242 R228C probably benign Het
Tnn A T 1: 160,088,438 H1236Q probably damaging Het
Ubr3 T C 2: 69,951,570 I667T probably benign Het
Vmn1r183 T A 7: 24,055,560 F263I probably benign Het
Other mutations in Olfr282
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02724:Olfr282 APN 15 98437779 missense probably benign 0.09
IGL03104:Olfr282 APN 15 98438246 missense possibly damaging 0.93
R0611:Olfr282 UTSW 15 98438287 missense possibly damaging 0.95
R3008:Olfr282 UTSW 15 98437976 missense probably damaging 1.00
R4093:Olfr282 UTSW 15 98437682 missense probably damaging 1.00
R4094:Olfr282 UTSW 15 98437682 missense probably damaging 1.00
R4095:Olfr282 UTSW 15 98437682 missense probably damaging 1.00
R4579:Olfr282 UTSW 15 98437679 missense probably damaging 1.00
R4647:Olfr282 UTSW 15 98437576 missense probably benign 0.00
R5290:Olfr282 UTSW 15 98438332 missense probably damaging 1.00
Posted On2014-02-04