Incidental Mutation 'IGL02408:Olfr46'
ID 292162
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr46
Ensembl Gene ENSMUSG00000093942
Gene Name olfactory receptor 46
Synonyms ID12, IF5, MOR253-8, GA_x6K02T2PBJ9-42759973-42760905, IB7
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.105) question?
Stock # IGL02408
Quality Score
Status
Chromosome 7
Chromosomal Location 140601269-140617678 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 140610931 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 255 (V255A)
Ref Sequence ENSEMBL: ENSMUSP00000072445 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072655] [ENSMUST00000211771] [ENSMUST00000214180]
AlphaFold Q8VGJ4
Predicted Effect probably damaging
Transcript: ENSMUST00000072655
AA Change: V255A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072445
Gene: ENSMUSG00000093942
AA Change: V255A

DomainStartEndE-ValueType
Pfam:7tm_4 39 315 1.1e-50 PFAM
Pfam:7TM_GPCR_Srsx 43 209 5.9e-8 PFAM
Pfam:7tm_1 49 298 3.4e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000211771
AA Change: V247A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000214180
AA Change: V247A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,644,171 Y278C probably damaging Het
Abcd2 A G 15: 91,178,241 L498P possibly damaging Het
Acot11 A G 4: 106,758,381 F271S probably damaging Het
Acr T A 15: 89,570,014 Y185N probably damaging Het
Adcy10 C T 1: 165,538,380 R489C probably damaging Het
Arsb A G 13: 93,794,162 T213A probably benign Het
Atg2a T A 19: 6,241,828 C11* probably null Het
B3galt6 A T 4: 155,991,695 Y308N probably damaging Het
Cd226 A G 18: 89,207,327 N116S probably benign Het
Crat T A 2: 30,407,134 D269V probably damaging Het
Crim1 T A 17: 78,315,654 I427N possibly damaging Het
Dock3 T C 9: 106,913,099 probably benign Het
Dsg1c T A 18: 20,274,719 V374E probably damaging Het
Dtl A G 1: 191,541,240 S519P probably benign Het
Fastkd1 C T 2: 69,702,601 R474H probably benign Het
Fbxo10 T C 4: 45,058,361 T459A possibly damaging Het
Frmd4b A G 6: 97,295,809 L828P probably damaging Het
Gc T C 5: 89,445,396 S55G probably benign Het
Gm6455 T G 5: 10,867,290 noncoding transcript Het
Gnai2 T C 9: 107,616,194 T280A probably benign Het
Hmgn2 A G 4: 133,965,949 probably null Het
Jmjd1c G T 10: 67,226,382 A1505S probably benign Het
Lrriq1 T C 10: 103,146,281 K1393E probably benign Het
Mcam A G 9: 44,140,250 N469D probably benign Het
Mrpl47 A G 3: 32,736,640 probably null Het
Mslnl C T 17: 25,747,998 A659V possibly damaging Het
Nlrp1a A G 11: 71,122,630 V598A probably benign Het
Npff A T 15: 102,524,565 L15Q probably null Het
Obsl1 G T 1: 75,505,246 Q327K probably damaging Het
Olfr48 T A 2: 89,844,971 M1L probably benign Het
Olfr58 A T 9: 19,783,415 Y94F probably benign Het
Olfr591 T C 7: 103,173,451 Y62C probably damaging Het
Olfr914 G A 9: 38,607,121 G219S possibly damaging Het
Pdzd2 T A 15: 12,375,765 H1428L probably benign Het
Phldb1 T C 9: 44,715,906 E414G possibly damaging Het
Reln T C 5: 21,901,619 D3251G probably benign Het
Secisbp2l G T 2: 125,740,869 S889* probably null Het
Setx T A 2: 29,133,930 C133S probably damaging Het
Slc22a29 A C 19: 8,207,285 S214A probably benign Het
Slc30a5 A C 13: 100,813,724 L285R probably damaging Het
Taar7a T G 10: 23,992,602 I294L probably benign Het
Tfap2b T A 1: 19,234,261 F414I probably damaging Het
Trpc4ap A T 2: 155,671,069 Y129N possibly damaging Het
Vmn2r94 T C 17: 18,253,261 E501G probably benign Het
Xpot T C 10: 121,603,165 H709R probably damaging Het
Zfhx3 T A 8: 108,955,372 probably benign Het
Zscan22 T G 7: 12,906,499 H223Q probably benign Het
Other mutations in Olfr46
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Olfr46 APN 7 140610753 missense probably damaging 1.00
IGL02496:Olfr46 APN 7 140610168 start codon destroyed probably benign
IGL03003:Olfr46 APN 7 140610370 missense probably damaging 1.00
R0538:Olfr46 UTSW 7 140610384 missense probably damaging 1.00
R1350:Olfr46 UTSW 7 140610709 missense probably damaging 0.96
R1466:Olfr46 UTSW 7 140610969 missense probably benign 0.01
R1466:Olfr46 UTSW 7 140610969 missense probably benign 0.01
R2008:Olfr46 UTSW 7 140610585 missense probably damaging 1.00
R4110:Olfr46 UTSW 7 140610264 missense probably benign 0.20
R4110:Olfr46 UTSW 7 140610265 missense possibly damaging 0.89
R4255:Olfr46 UTSW 7 140610587 nonsense probably null
R4622:Olfr46 UTSW 7 140610698 nonsense probably null
R4809:Olfr46 UTSW 7 140611074 missense probably damaging 0.98
R4826:Olfr46 UTSW 7 140610319 missense probably benign 0.02
R4989:Olfr46 UTSW 7 140610391 missense possibly damaging 0.95
R5177:Olfr46 UTSW 7 140610189 missense probably benign 0.00
R5261:Olfr46 UTSW 7 140610663 missense probably benign 0.00
R5770:Olfr46 UTSW 7 140610943 missense probably damaging 1.00
R5863:Olfr46 UTSW 7 140610631 missense probably damaging 0.97
R6082:Olfr46 UTSW 7 140610681 missense probably benign 0.00
R6705:Olfr46 UTSW 7 140610784 missense probably damaging 0.99
R7216:Olfr46 UTSW 7 140610460 missense possibly damaging 0.87
R7443:Olfr46 UTSW 7 140611048 missense probably damaging 1.00
R7485:Olfr46 UTSW 7 140610178 missense probably benign 0.02
R7806:Olfr46 UTSW 7 140610772 missense probably benign 0.00
R8373:Olfr46 UTSW 7 140610295 missense possibly damaging 0.88
R8884:Olfr46 UTSW 7 140610703 missense probably damaging 1.00
R9278:Olfr46 UTSW 7 140611023 missense probably damaging 1.00
Posted On 2015-04-16