Incidental Mutation 'IGL02977:Olfr464'
ID406426
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 #IGL02977
Quality Score
Status
Chromosome11
Chromosomal Location87913268-87920967 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 87914130 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 259 (S259P)
Ref Sequence ENSEMBL: ENSMUSP00000149264 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074874] [ENSMUST00000216461] [ENSMUST00000217112]
Predicted Effect possibly damaging
Transcript: ENSMUST00000074874
AA Change: S259P

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000074415
Gene: ENSMUSG00000060787
AA Change: S259P

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 possibly damaging
Transcript: ENSMUST00000216461
AA Change: S259P

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000217112
AA Change: S259P

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810004N23Rik C T 8: 124,861,191 V57M probably benign Het
4933440M02Rik T A 7: 125,331,702 noncoding transcript Het
9530053A07Rik C T 7: 28,164,372 T2523M possibly damaging Het
Bmp5 A G 9: 75,893,799 T404A probably damaging Het
Cep192 T C 18: 67,852,905 V1660A probably damaging Het
Csmd2 C A 4: 128,493,276 Y2121* probably null Het
Daam1 G A 12: 71,944,172 A187T unknown Het
Dnaja4 T C 9: 54,714,510 L343P possibly damaging Het
Dym T C 18: 75,063,175 probably null Het
F5 A T 1: 164,194,021 D1355V probably damaging Het
Gcnt1 A T 19: 17,329,374 I329N probably damaging Het
Gm10110 T C 14: 89,897,332 noncoding transcript Het
Hdgfl2 A G 17: 56,099,319 N569S possibly damaging Het
Hivep1 T C 13: 42,155,936 S551P possibly damaging Het
Hpse2 G A 19: 42,789,122 probably benign Het
Hspe1 T C 1: 55,091,073 Y88H probably benign Het
Ifi44 A T 3: 151,739,379 M312K probably benign Het
Lrp1b T G 2: 40,730,735 D3577A probably damaging Het
Mapk13 G T 17: 28,776,348 G181V probably damaging Het
Olfr1164 T C 2: 88,093,571 I122V probably benign Het
Oprl1 G T 2: 181,718,511 C115F probably damaging Het
Psg22 A G 7: 18,719,599 D112G probably benign Het
Rp1l1 T A 14: 64,028,150 I395N probably benign Het
Simc1 T C 13: 54,526,307 S823P probably benign Het
Slc9b1 T C 3: 135,397,723 L538P probably damaging Het
Smad2 T A 18: 76,289,164 Y216N possibly damaging Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Tonsl T A 15: 76,632,873 Q882L probably benign Het
Trav13-2 C T 14: 53,635,307 T80I probably damaging Het
Uaca C T 9: 60,866,380 P388S probably benign Het
Vmn2r116 A G 17: 23,388,774 R439G possibly damaging Het
Vmn2r18 C A 5: 151,586,684 A75S probably damaging Het
Other mutations in Olfr464
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01353:Olfr464 APN 11 87914172 missense probably benign 0.09
IGL02011:Olfr464 APN 11 87914882 missense probably benign 0.01
IGL02218:Olfr464 APN 11 87914063 missense probably damaging 1.00
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 On2016-08-02