Incidental Mutation 'IGL01700:Olfr818'
ID104422
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr818
Ensembl Gene ENSMUSG00000058071
Gene Nameolfactory receptor 818
SynonymsGA_x6K02T2PULF-11624146-11623190, MOR110-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.053) question?
Stock #IGL01700
Quality Score
Status
Chromosome10
Chromosomal Location129944396-129949100 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 129945941 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 40 (N40K)
Ref Sequence ENSEMBL: ENSMUSP00000149259 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074308] [ENSMUST00000205227] [ENSMUST00000215527]
Predicted Effect probably damaging
Transcript: ENSMUST00000074308
AA Change: N40K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073918
Gene: ENSMUSG00000058071
AA Change: N40K

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 1.4e-47 PFAM
Pfam:7tm_1 39 287 3.5e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205227
SMART Domains Protein: ENSMUSP00000145108
Gene: ENSMUSG00000058071

DomainStartEndE-ValueType
Pfam:7tm_1 1 122 5e-13 PFAM
Pfam:7tm_4 1 123 8.7e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215527
AA Change: N40K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,280,390 M1778L probably benign Het
Aldh6a1 C T 12: 84,439,538 C202Y probably damaging Het
Ankrd36 A G 11: 5,632,198 T276A probably benign Het
Ankrd55 T C 13: 112,381,168 I556T probably benign Het
Aqp4 A G 18: 15,399,865 I57T probably benign Het
Atp1a1 T C 3: 101,594,258 D43G possibly damaging Het
Cyld G A 8: 88,707,099 R172H probably damaging Het
Diexf G A 1: 193,118,265 P416S probably damaging Het
Ear2 A T 14: 44,103,259 R125* probably null Het
Efcab9 T C 11: 32,527,451 R24G probably damaging Het
F7 C A 8: 13,028,685 Q39K probably benign Het
Galntl6 A T 8: 57,958,460 probably benign Het
Kcnj5 A G 9: 32,322,629 V130A probably damaging Het
Magee2 A G X: 104,855,968 I359T possibly damaging Het
Myh1 T G 11: 67,211,412 I843S probably damaging Het
Nfat5 T A 8: 107,339,130 M98K probably damaging Het
Nrip3 T A 7: 109,761,867 N200I possibly damaging Het
Phkb A T 8: 86,017,465 Q581L probably benign Het
Plxdc2 T C 2: 16,512,115 V69A probably benign Het
Pou3f1 G T 4: 124,658,857 W384L probably damaging Het
Prrc2a G A 17: 35,150,667 S1890L possibly damaging Het
Psmc1 C A 12: 100,113,078 P27H probably damaging Het
Pvr C A 7: 19,909,232 A359S probably benign Het
Rasal1 A T 5: 120,676,817 I711F probably benign Het
Ror1 C T 4: 100,409,771 A223V probably damaging Het
Slc22a16 A T 10: 40,603,908 I638L unknown Het
Slfn10-ps C T 11: 83,029,112 noncoding transcript Het
Sptbn4 A G 7: 27,404,268 L1176P probably damaging Het
Usp21 A T 1: 171,283,402 F421I probably damaging Het
Vmn1r61 T A 7: 5,611,203 R37S possibly damaging Het
Vps13a G A 19: 16,744,857 R364* probably null Het
Vps29 A G 5: 122,362,867 Y165C probably damaging Het
Wdfy4 T C 14: 33,020,238 probably benign Het
Wdr24 A G 17: 25,825,828 D219G probably damaging Het
Xpo1 T C 11: 23,276,422 probably benign Het
Zfp831 C A 2: 174,644,918 T462K possibly damaging Het
Zswim5 T C 4: 116,986,461 probably benign Het
Other mutations in Olfr818
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00897:Olfr818 APN 10 129945911 missense possibly damaging 0.95
IGL00951:Olfr818 APN 10 129945712 missense probably damaging 0.99
IGL02313:Olfr818 APN 10 129945903 missense probably damaging 1.00
IGL02373:Olfr818 APN 10 129945465 missense probably benign 0.11
IGL02983:Olfr818 APN 10 129945189 missense probably damaging 1.00
R0730:Olfr818 UTSW 10 129945111 missense probably benign 0.04
R1574:Olfr818 UTSW 10 129945510 missense probably damaging 1.00
R1574:Olfr818 UTSW 10 129945510 missense probably damaging 1.00
R1789:Olfr818 UTSW 10 129945582 nonsense probably null
R1824:Olfr818 UTSW 10 129945337 missense possibly damaging 0.67
R2107:Olfr818 UTSW 10 129945712 missense probably damaging 0.99
R2398:Olfr818 UTSW 10 129945207 missense probably benign 0.04
R5799:Olfr818 UTSW 10 129945911 missense possibly damaging 0.95
R6048:Olfr818 UTSW 10 129945826 missense possibly damaging 0.67
R7027:Olfr818 UTSW 10 129945172 missense possibly damaging 0.60
R7222:Olfr818 UTSW 10 129945889 missense probably damaging 1.00
R7406:Olfr818 UTSW 10 129945566 missense probably benign 0.00
Posted On2014-01-21