Incidental Mutation 'IGL01930:Olfr418'
ID180405
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: 0.113) question?
Stock #IGL01930
Quality Score
Status
Chromosome1
Chromosomal Location173266001-173273994 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 173270610 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 145 (V145A)
Ref Sequence ENSEMBL: ENSMUSP00000150427 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059754] [ENSMUST00000111224] [ENSMUST00000213420]
Predicted Effect probably benign
Transcript: ENSMUST00000059754
AA Change: V145A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000052418
Gene: ENSMUSG00000049605
AA Change: V145A

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 benign
Transcript: ENSMUST00000213420
AA Change: V145A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810011H11Rik G A 14: 32,816,857 E92K probably benign Het
4930433N12Rik C T 9: 3,134,875 noncoding transcript Het
Acsf3 A G 8: 122,780,346 Y126C probably benign Het
Akr1c20 T A 13: 4,507,648 probably benign Het
Cdan1 T C 2: 120,726,582 probably benign Het
Cdc42bpg C T 19: 6,311,368 A308V probably damaging Het
Dek T C 13: 47,088,135 I318V probably benign Het
Dvl1 A G 4: 155,856,188 M422V possibly damaging Het
Erbin G A 13: 103,841,172 L626F probably damaging Het
Fa2h A T 8: 111,349,304 V229E possibly damaging Het
Gfpt1 T A 6: 87,059,415 H193Q possibly damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gpr162 A G 6: 124,861,612 L25P possibly damaging Het
Hsd3b5 T C 3: 98,622,159 T52A probably benign Het
Megf8 T A 7: 25,334,861 V668D probably damaging Het
Prkdc A G 16: 15,698,887 T1042A probably damaging Het
Rasgrf2 A G 13: 91,982,738 S735P probably damaging Het
Serpina3n T A 12: 104,408,972 L101H probably damaging Het
Sipa1l2 T C 8: 125,419,239 D1674G probably damaging Het
Sval3 A G 6: 41,972,521 N98D probably benign Het
Tbc1d16 G A 11: 119,156,075 R449C possibly damaging Het
Tm7sf3 A C 6: 146,610,933 I321S possibly damaging Het
Trappc13 A G 13: 104,148,078 probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wdr60 A G 12: 116,225,963 probably null Het
Wdr76 A G 2: 121,510,822 D116G possibly damaging Het
Zscan18 T C 7: 12,775,348 probably benign 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
IGL01963:Olfr418 APN 1 173270352 missense probably damaging 0.99
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
R7220:Olfr418 UTSW 1 173270244 missense possibly damaging 0.56
R7240:Olfr418 UTSW 1 173270994 missense probably benign 0.27
X0019:Olfr418 UTSW 1 173270557 nonsense probably null
Posted On2014-05-07