Incidental Mutation 'IGL00340:Olfr46'
ID5101
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr46
Ensembl Gene ENSMUSG00000093942
Gene Nameolfactory receptor 46
SynonymsID12, IF5, MOR253-8, GA_x6K02T2PBJ9-42759973-42760905, IB7
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.122) question?
Stock #IGL00340
Quality Score
Status
Chromosome7
Chromosomal Location140601269-140617678 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 140610753 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 196 (S196T)
Ref Sequence ENSEMBL: ENSMUSP00000072445 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072655] [ENSMUST00000211771] [ENSMUST00000214180]
Predicted Effect probably damaging
Transcript: ENSMUST00000072655
AA Change: S196T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072445
Gene: ENSMUSG00000093942
AA Change: S196T

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: S188T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000214180
AA Change: S188T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; 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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430A15Rik G T 2: 111,220,762 L230I probably damaging Het
Adamts3 G A 5: 89,701,666 H632Y probably damaging Het
Adgre5 T A 8: 83,728,401 M221L probably benign Het
Apba2 A T 7: 64,736,941 I439F possibly damaging Het
Arid1b C A 17: 5,321,284 N632K probably damaging Het
Bcas3 A T 11: 85,365,591 I60L probably damaging Het
Brd9 T C 13: 73,938,547 S56P probably damaging Het
Ccdc57 T A 11: 120,860,469 D925V possibly damaging Het
Ccna1 A G 3: 55,050,655 V143A probably damaging Het
Cdhr3 T C 12: 33,052,209 T410A probably benign Het
Ddx60 G T 8: 61,958,646 D511Y probably damaging Het
Drc7 C A 8: 95,056,001 probably benign Het
Dysf A G 6: 84,141,951 E1290G probably benign Het
Fam168b T C 1: 34,836,802 M1V probably null Het
Farsa A G 8: 84,864,257 K208R probably damaging Het
Fnip2 A G 3: 79,518,061 probably benign Het
Gm17535 A T 9: 3,035,111 H170L probably benign Het
Gm4553 T C 7: 142,165,227 S155G unknown Het
Gm5852 T C 3: 93,727,194 noncoding transcript Het
Gnb2 T C 5: 137,530,706 probably benign Het
Gpr158 A G 2: 21,368,683 N143S probably damaging Het
Hcn1 C A 13: 117,602,977 Q92K unknown Het
Helb T C 10: 120,098,245 I678V possibly damaging Het
Hnrnpl C A 7: 28,813,373 A118D probably damaging Het
Klhl14 G A 18: 21,651,864 P169S probably benign Het
Kndc1 T C 7: 139,901,988 probably benign Het
Lmod2 A G 6: 24,598,052 E57G probably damaging Het
Lrch4 T C 5: 137,637,747 I300T possibly damaging Het
Lrp6 A G 6: 134,456,090 V1426A probably benign Het
Lrrc39 A G 3: 116,570,981 probably benign Het
Mamstr G A 7: 45,644,285 V262I probably benign Het
Mob1b A T 5: 88,756,155 T217S probably benign Het
Mocs3 G A 2: 168,231,491 R286H possibly damaging Het
Mpo A T 11: 87,802,617 Q27L probably benign Het
Ncdn A T 4: 126,747,188 D506E probably benign Het
Noxa1 A G 2: 25,094,902 I8T probably benign Het
Olfr514 C T 7: 108,825,073 V309I probably benign Het
Olfr878 A G 9: 37,919,050 Y131C probably damaging Het
Oma1 G T 4: 103,319,368 A110S probably benign Het
Pde4a A C 9: 21,211,061 K694T probably benign Het
Phc1 A G 6: 122,322,999 probably benign Het
Pias1 A G 9: 62,923,296 V187A probably damaging Het
Pifo A G 3: 106,014,508 V33A probably benign Het
Pigf C A 17: 87,020,448 L130F probably null Het
Pkd1 G T 17: 24,580,095 V2763L probably damaging Het
Ppp1r8 T C 4: 132,834,681 Y76C probably damaging Het
Ppp6r3 C A 19: 3,518,324 G158V probably damaging Het
Ptpn13 A G 5: 103,551,058 I1136V probably damaging Het
Ptprq T C 10: 107,576,929 I1770V probably damaging Het
Rhpn2 A T 7: 35,370,760 I148F probably damaging Het
Stard3 T C 11: 98,377,459 Y239H probably damaging Het
Stau1 T C 2: 166,950,809 Y412C probably benign Het
Sucnr1 A G 3: 60,086,632 I194V probably benign Het
Tanc1 A G 2: 59,790,841 T335A possibly damaging Het
Tmem126a T C 7: 90,452,755 T79A probably benign Het
Trav9-2 A T 14: 53,591,383 Y70F probably benign Het
Tspear A G 10: 77,873,236 E432G probably benign Het
Ube2o T C 11: 116,544,754 R403G probably benign Het
Unc80 C A 1: 66,606,459 S1431R possibly damaging Het
Usp24 G A 4: 106,401,139 C1578Y probably damaging Het
Vsig10 A T 5: 117,351,587 M473L probably benign Het
Xpot T A 10: 121,605,644 M559L probably benign Het
Other mutations in Olfr46
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02408:Olfr46 APN 7 140610931 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
Posted On2012-04-20