Incidental Mutation 'IGL03154:Olfr464'
ID411192
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 #IGL03154
Quality Score
Status
Chromosome11
Chromosomal Location87913268-87920967 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 87914246 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 220 (V220D)
Ref Sequence ENSEMBL: ENSMUSP00000149264 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074874] [ENSMUST00000216461] [ENSMUST00000217112]
Predicted Effect possibly damaging
Transcript: ENSMUST00000074874
AA Change: V220D

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000074415
Gene: ENSMUSG00000060787
AA Change: V220D

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: V220D

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000217112
AA Change: V220D

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1a1 A G 19: 20,630,768 E318G probably benign Het
Alpi A T 1: 87,100,088 W257R probably damaging Het
Arap2 T C 5: 62,642,925 E1253G probably damaging Het
Fam208b A T 13: 3,575,255 M1565K possibly damaging Het
Fbxw13 G T 9: 109,181,465 F368L probably damaging Het
Gm7030 T A 17: 36,127,875 N208I probably benign Het
Herc2 T A 7: 56,202,159 D3655E probably damaging Het
Hkdc1 T A 10: 62,385,705 D858V probably damaging Het
Ifi205 A C 1: 174,017,666 probably benign Het
Ighv10-3 T A 12: 114,523,887 M1L probably benign Het
Igkv4-90 C T 6: 68,807,272 G87R probably damaging Het
Insc G A 7: 114,842,189 G413S probably null Het
Iqch T A 9: 63,454,682 T850S probably damaging Het
Kcnd2 A G 6: 21,216,708 Y137C probably damaging Het
Lhx6 A T 2: 36,094,443 probably null Het
Lrp2 A G 2: 69,549,042 S109P probably damaging Het
Mroh1 T C 15: 76,452,838 L1617P probably damaging Het
Olfr346 A T 2: 36,688,643 I214F possibly damaging Het
Olfr549 G T 7: 102,554,706 V141L probably benign Het
Olfr739 A T 14: 50,424,623 I35F probably benign Het
Prex2 T C 1: 11,153,633 V727A possibly damaging Het
Ralgapb A G 2: 158,432,866 H229R probably damaging Het
Rusc2 G A 4: 43,425,806 G1304S probably benign Het
Sbsn A G 7: 30,751,728 N56S possibly damaging Het
Skint8 T A 4: 111,939,510 probably null Het
Uso1 C A 5: 92,180,618 S358* probably null 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
IGL02977:Olfr464 APN 11 87914130 missense possibly damaging 0.48
IGL03083:Olfr464 APN 11 87914088 missense probably benign 0.00
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