Incidental Mutation 'IGL02478:Olfr293'
ID295021
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr293
Ensembl Gene ENSMUSG00000063394
Gene Nameolfactory receptor 293
SynonymsGA_x6K02T2NHDJ-9457744-9456734, MOR221-3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.242) question?
Stock #IGL02478
Quality Score
Status
Chromosome7
Chromosomal Location86649061-86666045 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 86664136 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 158 (I158N)
Ref Sequence ENSEMBL: ENSMUSP00000149959 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081474] [ENSMUST00000214401] [ENSMUST00000215280]
Predicted Effect probably damaging
Transcript: ENSMUST00000081474
AA Change: I158N

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000080193
Gene: ENSMUSG00000063394
AA Change: I158N

DomainStartEndE-ValueType
Pfam:7tm_4 35 313 2.1e-45 PFAM
Pfam:7tm_1 45 295 1.6e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214401
AA Change: I158N

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000215280
AA Change: I158N

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; 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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b C A 5: 8,806,018 A42E probably damaging Het
Agmo T A 12: 37,401,986 F247L probably damaging Het
Arap1 C A 7: 101,400,125 probably null Het
Arid1a T C 4: 133,681,274 D1974G unknown Het
Asxl3 C T 18: 22,523,013 A1360V possibly damaging Het
Celsr1 T A 15: 85,941,136 T1599S possibly damaging Het
Chrdl2 T C 7: 100,020,983 probably null Het
Csmd3 T C 15: 47,838,398 probably benign Het
Dis3l C T 9: 64,314,773 E452K probably benign Het
Dnajc2 A T 5: 21,776,790 H45Q probably damaging Het
Eps8 G A 6: 137,522,842 P213L probably benign Het
Erbb3 T A 10: 128,571,358 R978* probably null Het
Exoc2 A T 13: 30,927,420 C142S probably benign Het
Fam184b T C 5: 45,537,697 E735G probably damaging Het
Fam208b T C 13: 3,574,661 E1763G probably benign Het
Fancm T C 12: 65,077,090 V174A probably damaging Het
Fat4 T C 3: 38,888,215 L419P probably damaging Het
Fsip2 G T 2: 82,984,392 V3490L probably benign Het
Ftcd A T 10: 76,581,421 R255* probably null Het
Galc T C 12: 98,213,132 N506S possibly damaging Het
Gm20441 G T 10: 75,772,810 A26E probably damaging Het
Gm21969 T G 4: 139,640,688 probably null Het
Hspb11 T A 4: 107,275,252 S79T probably benign Het
Ifitm3 T A 7: 141,009,874 M89L possibly damaging Het
Inmt T C 6: 55,173,370 E94G probably damaging Het
Insrr G A 3: 87,809,412 G649D probably benign Het
Ivd T C 2: 118,862,091 L24P probably benign Het
Kcnc1 A G 7: 46,435,169 N506D probably benign Het
Krt39 T A 11: 99,520,897 D121V probably benign Het
Lcp1 A G 14: 75,224,096 I510V probably benign Het
Mkx C T 18: 7,002,418 V43M probably damaging Het
Mmp2 A G 8: 92,852,607 N108S possibly damaging Het
Mob1b T C 5: 88,756,088 probably benign Het
Morc3 A G 16: 93,864,956 probably benign Het
Myh13 T G 11: 67,369,378 S1881A probably benign Het
Nalcn T C 14: 123,321,305 E843G probably benign Het
Ngef A G 1: 87,480,579 probably benign Het
Osm A G 11: 4,239,507 Y97C probably damaging Het
Pclo T A 5: 14,766,778 L4556Q unknown Het
Pcyox1l T C 18: 61,697,709 D364G probably benign Het
Plekha6 T A 1: 133,283,293 V467E probably benign Het
Qrsl1 A T 10: 43,882,162 S312T probably damaging Het
Ripk1 T A 13: 34,010,589 L70Q probably damaging Het
Rnaseh1 A T 12: 28,655,663 Y162F probably damaging Het
Ror2 T A 13: 53,121,667 T195S probably damaging Het
Sh3bp2 T C 5: 34,551,662 L33P probably damaging Het
Skil T A 3: 31,097,819 C163* probably null Het
Slc25a37 A T 14: 69,249,434 N133K probably benign Het
Slitrk3 A C 3: 73,050,713 V242G probably damaging Het
Sra1 A G 18: 36,668,792 S82P probably benign Het
Synj2 A G 17: 6,037,924 N1417D probably benign Het
Tas2r122 A G 6: 132,711,615 V105A possibly damaging Het
Ttc21b T C 2: 66,188,280 N1261S probably benign Het
Vmn2r69 A G 7: 85,406,681 S750P probably damaging Het
Wdr95 A G 5: 149,596,321 T568A probably benign Het
Zfp319 T A 8: 95,329,093 I161F possibly damaging Het
Other mutations in Olfr293
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02659:Olfr293 APN 7 86664081 missense probably benign 0.06
IGL02730:Olfr293 APN 7 86664067 missense probably damaging 0.98
IGL02959:Olfr293 APN 7 86664529 missense probably damaging 0.98
R0045:Olfr293 UTSW 7 86664340 missense possibly damaging 0.90
R0094:Olfr293 UTSW 7 86664294 missense probably benign
R0094:Olfr293 UTSW 7 86664294 missense probably benign
R0152:Olfr293 UTSW 7 86664511 missense probably damaging 1.00
R0669:Olfr293 UTSW 7 86664336 missense possibly damaging 0.79
R0942:Olfr293 UTSW 7 86664106 missense probably damaging 0.98
R1467:Olfr293 UTSW 7 86663977 missense possibly damaging 0.90
R1467:Olfr293 UTSW 7 86663977 missense possibly damaging 0.90
R1656:Olfr293 UTSW 7 86664123 missense probably benign 0.04
R2010:Olfr293 UTSW 7 86664603 missense probably benign
R2056:Olfr293 UTSW 7 86664383 missense probably damaging 1.00
R2059:Olfr293 UTSW 7 86664383 missense probably damaging 1.00
R2105:Olfr293 UTSW 7 86664383 missense probably damaging 1.00
R4166:Olfr293 UTSW 7 86664394 missense probably damaging 1.00
R4303:Olfr293 UTSW 7 86663955 missense probably benign 0.16
R4531:Olfr293 UTSW 7 86664271 missense probably benign 0.02
R4808:Olfr293 UTSW 7 86663938 missense probably benign 0.00
R5748:Olfr293 UTSW 7 86664085 missense possibly damaging 0.61
R5937:Olfr293 UTSW 7 86664476 missense probably benign 0.00
R6178:Olfr293 UTSW 7 86664611 missense probably benign 0.45
R6766:Olfr293 UTSW 7 86664085 missense probably damaging 0.98
Posted On2015-04-16