Incidental Mutation 'IGL01353:Olfr464'
ID75450
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr464
Ensembl Gene ENSMUSG00000060787
Gene Nameolfactory receptor 464
SynonymsMOR240-2, GA_x6K02T2PAEV-9555122-9554181
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.122) question?
Stock #IGL01353
Quality Score
Status
Chromosome11
Chromosomal Location87913268-87920967 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 87914172 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 245 (I245V)
Ref Sequence ENSEMBL: ENSMUSP00000149264 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074874] [ENSMUST00000216461] [ENSMUST00000217112]
Predicted Effect probably benign
Transcript: ENSMUST00000074874
AA Change: I245V

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000074415
Gene: ENSMUSG00000060787
AA Change: I245V

DomainStartEndE-ValueType
Pfam:7tm_4 31 304 4.3e-42 PFAM
Pfam:7tm_1 41 287 3.8e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151956
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214754
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215062
Predicted Effect probably benign
Transcript: ENSMUST00000216461
AA Change: I245V

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000217112
AA Change: I245V

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A T 11: 94,352,108 V1304E possibly damaging Het
Acr T C 15: 89,569,492 L78P probably damaging Het
Adamts12 T C 15: 11,292,005 probably benign Het
Adgrb2 T C 4: 130,012,300 S872P probably damaging Het
Adhfe1 T A 1: 9,566,863 N413K probably benign Het
Apoh T A 11: 108,397,385 C110S probably damaging Het
Arhgap11a A G 2: 113,833,524 F805L probably damaging Het
BC049730 G T 7: 24,714,237 S226I probably damaging Het
Bin3 C T 14: 70,134,826 L191F possibly damaging Het
Col3a1 A G 1: 45,333,638 probably benign Het
Dapp1 T C 3: 137,961,480 K107R probably benign Het
Dnah5 T C 15: 28,233,272 V259A probably benign Het
Dnah6 T C 6: 73,173,456 M775V probably benign Het
Dnah9 A G 11: 66,080,571 L1597P probably damaging Het
Elfn2 G A 15: 78,672,418 A643V possibly damaging Het
Epha6 T C 16: 60,424,895 T314A probably damaging Het
Fn1 C A 1: 71,586,939 W2237L probably damaging Het
Foxp4 T A 17: 47,888,153 D97V probably damaging Het
Kcnb2 C A 1: 15,710,824 T640K probably benign Het
Miga2 G A 2: 30,371,233 probably null Het
Nacad T A 11: 6,600,530 Q887L possibly damaging Het
Olfr1058 A T 2: 86,386,021 Y132* probably null Het
Olfr165 C T 16: 19,407,583 M145I probably benign Het
Olfr866 T C 9: 20,027,047 N297S probably damaging Het
Otub2 A T 12: 103,404,322 M288L probably benign Het
Otud4 A G 8: 79,665,021 S432G probably benign Het
Pcca G A 14: 122,582,617 V58I probably damaging Het
Pdpr T A 8: 111,121,278 probably null Het
Pinx1 C A 14: 63,866,115 Q48K probably benign Het
Pkd1l2 G T 8: 117,057,443 S698R probably benign Het
Psg29 A G 7: 17,205,013 R71G possibly damaging Het
Psmd3 T A 11: 98,690,600 V271E probably benign Het
Smarcc1 A G 9: 110,135,666 N97S probably benign Het
Sulf2 C T 2: 166,087,095 G319S probably damaging Het
Tmem67 C A 4: 12,079,895 C132F probably damaging Het
Ttll7 T C 3: 146,961,719 L780P probably damaging Het
Vmn1r223 A G 13: 23,249,256 T7A unknown Het
Vmn1r76 T G 7: 11,930,810 H159P probably damaging Het
Vnn1 G A 10: 23,900,840 C363Y probably damaging Het
Wdr64 T G 1: 175,731,585 L305V probably damaging Het
Zkscan4 T C 13: 21,484,348 L323P probably damaging Het
Zscan10 A T 17: 23,609,600 H295L probably damaging Het
Other mutations in Olfr464
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02011:Olfr464 APN 11 87914882 missense probably benign 0.01
IGL02218:Olfr464 APN 11 87914063 missense probably damaging 1.00
IGL02977:Olfr464 APN 11 87914130 missense possibly damaging 0.48
IGL03083:Olfr464 APN 11 87914088 missense probably benign 0.00
IGL03154:Olfr464 APN 11 87914246 missense possibly damaging 0.90
R0241:Olfr464 UTSW 11 87914034 missense probably damaging 1.00
R0241:Olfr464 UTSW 11 87914034 missense probably damaging 1.00
R4679:Olfr464 UTSW 11 87914310 missense probably benign 0.13
R4734:Olfr464 UTSW 11 87914190 missense probably damaging 1.00
R4939:Olfr464 UTSW 11 87914124 missense probably damaging 1.00
R5917:Olfr464 UTSW 11 87914389 missense probably damaging 1.00
R6729:Olfr464 UTSW 11 87914850 nonsense probably null
R8289:Olfr464 UTSW 11 87914763 missense probably benign 0.07
R8328:Olfr464 UTSW 11 87914159 missense possibly damaging 0.50
R8363:Olfr464 UTSW 11 87914243 missense probably damaging 1.00
Posted On2013-10-07