Incidental Mutation 'IGL01963:Olfr418'
ID182456
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr418
Ensembl Gene ENSMUSG00000049605
Gene Nameolfactory receptor 418
SynonymsGA_x6K02T2P20D-20826777-20827719, MOR267-8, GA_x6K02T2R7CC-581296-580364, Olfr418-ps1, Olfr1403, MOR267-12P
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.136) question?
Stock #IGL01963
Quality Score
Status
Chromosome1
Chromosomal Location173266001-173273994 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 173270352 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 59 (M59K)
Ref Sequence ENSEMBL: ENSMUSP00000150427 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059754] [ENSMUST00000111224] [ENSMUST00000213420]
Predicted Effect probably damaging
Transcript: ENSMUST00000059754
AA Change: M59K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000052418
Gene: ENSMUSG00000049605
AA Change: M59K

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 1.6e-55 PFAM
Pfam:7tm_1 41 289 5.7e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111224
SMART Domains Protein: ENSMUSP00000106855
Gene: ENSMUSG00000079180

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
PTX 20 219 1.93e-94 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000213420
AA Change: M59K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610042L04Rik G A 14: 4,350,856 G130D probably damaging Het
Abca8b T A 11: 109,971,763 D392V probably damaging Het
Clptm1l T A 13: 73,617,569 probably benign Het
Creb3l1 G A 2: 91,993,333 T178I probably benign Het
Ctsd A G 7: 142,376,599 probably null Het
Dcstamp A T 15: 39,760,359 I401F possibly damaging Het
Dnah5 A G 15: 28,370,536 D2874G probably benign Het
Fgfr1op A T 17: 8,192,277 D354V probably damaging Het
Fli1 T A 9: 32,424,207 K310* probably null Het
Fndc4 C T 5: 31,295,212 probably null Het
Fuk A G 8: 110,893,402 F281S probably damaging Het
Gc G A 5: 89,422,122 probably benign Het
Krtap26-1 A G 16: 88,647,668 C22R probably damaging Het
Obscn C T 11: 59,020,541 G6422S probably benign Het
Olfr1444 T A 19: 12,862,382 F202L probably benign Het
Olfr975 C A 9: 39,950,240 C177F probably damaging Het
Pgr C T 9: 8,922,668 P613L probably damaging Het
Pnpla8 C A 12: 44,296,033 A524E possibly damaging Het
Psma2 A T 13: 14,619,363 I105F probably damaging Het
Ptprg A G 14: 12,220,661 R458G probably damaging Het
Rbm44 A G 1: 91,163,108 I755V probably benign Het
Rev3l A G 10: 39,822,737 K1077E possibly damaging Het
Rps20 A C 4: 3,834,494 probably benign Het
Sel1l3 A C 5: 53,200,338 V104G probably damaging Het
Sirpb1c T C 3: 15,838,773 N89S probably benign Het
Slc25a16 G A 10: 62,930,441 probably null Het
Sulf1 C T 1: 12,818,507 R339C probably damaging Het
Tedc2 C T 17: 24,217,952 A270T probably benign Het
Trem3 T C 17: 48,247,852 S2P possibly damaging Het
Vps37a G T 8: 40,540,730 Q255H probably damaging Het
Zfp352 C T 4: 90,224,154 A177V possibly damaging Het
Other mutations in Olfr418
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01413:Olfr418 APN 1 173270708 missense probably damaging 1.00
IGL01418:Olfr418 APN 1 173270708 missense probably damaging 1.00
IGL01930:Olfr418 APN 1 173270610 missense probably benign
IGL02104:Olfr418 APN 1 173271036 missense probably damaging 0.96
IGL02192:Olfr418 APN 1 173270850 missense probably damaging 1.00
IGL02256:Olfr418 APN 1 173270627 missense probably benign 0.04
IGL02340:Olfr418 APN 1 173270405 missense probably benign 0.10
IGL02454:Olfr418 APN 1 173270940 missense probably damaging 0.99
IGL02638:Olfr418 APN 1 173270331 missense probably benign 0.07
FR4737:Olfr418 UTSW 1 173270630 frame shift probably null
FR4976:Olfr418 UTSW 1 173270630 frame shift probably null
R0552:Olfr418 UTSW 1 173270805 missense probably benign 0.05
R0621:Olfr418 UTSW 1 173270675 missense possibly damaging 0.48
R0735:Olfr418 UTSW 1 173271002 missense probably benign 0.05
R1506:Olfr418 UTSW 1 173270769 missense probably benign 0.04
R1670:Olfr418 UTSW 1 173270900 missense probably damaging 1.00
R2111:Olfr418 UTSW 1 173270312 missense probably benign
R2204:Olfr418 UTSW 1 173270136 unclassified probably null
R4475:Olfr418 UTSW 1 173270913 missense probably damaging 0.99
R4909:Olfr418 UTSW 1 173270979 missense probably damaging 0.97
R5457:Olfr418 UTSW 1 173270574 missense probably benign 0.00
R6124:Olfr418 UTSW 1 173270279 missense probably damaging 1.00
R6456:Olfr418 UTSW 1 173270538 missense probably damaging 1.00
X0019:Olfr418 UTSW 1 173270557 nonsense probably null
Posted On2014-05-07