Incidental Mutation 'IGL03399:Olfr478'
ID421338
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr478
Ensembl Gene ENSMUSG00000094426
Gene Nameolfactory receptor 478
SynonymsGA_x6K02T2PBJ9-10361879-10360935, MOR204-13
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.116) question?
Stock #IGL03399
Quality Score
Status
Chromosome7
Chromosomal Location108029965-108033989 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 108031582 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 254 (F254L)
Ref Sequence ENSEMBL: ENSMUSP00000147713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049719] [ENSMUST00000210173]
Predicted Effect probably benign
Transcript: ENSMUST00000049719
AA Change: F254L

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000058931
Gene: ENSMUSG00000094426
AA Change: F254L

DomainStartEndE-ValueType
Pfam:7tm_4 34 311 1.1e-54 PFAM
Pfam:7tm_1 44 293 1e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000210173
AA Change: F254L

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830411N06Rik G A 7: 140,247,956 E26K probably benign Het
Acss1 C T 2: 150,637,878 G303D probably damaging Het
Adam6b A T 12: 113,491,108 Y515F probably damaging Het
Birc2 A T 9: 7,821,087 L412Q probably damaging Het
Birc6 T C 17: 74,594,373 I1144T probably benign Het
Dip2b A T 15: 100,175,327 N770I possibly damaging Het
Dmxl2 T C 9: 54,446,672 N671D probably damaging Het
Dpyd A G 3: 119,314,777 D823G probably damaging Het
Eif5 A G 12: 111,544,590 D367G probably damaging Het
Exog T G 9: 119,446,951 S56A possibly damaging Het
Hap1 C A 11: 100,354,267 M39I possibly damaging Het
Hsd17b6 A T 10: 127,993,756 H192Q probably benign Het
Insrr T A 3: 87,809,331 L622Q probably null Het
Kars G T 8: 112,008,294 A20E probably benign Het
Kyat3 A G 3: 142,726,010 D197G probably damaging Het
Mapk9 T A 11: 49,883,299 probably benign Het
Naip1 A T 13: 100,408,918 D1367E probably damaging Het
Oaz1 G A 10: 80,828,342 S84N probably benign Het
Ofcc1 T C 13: 40,142,838 R507G possibly damaging Het
Olfr345 T G 2: 36,640,882 V281G possibly damaging Het
Olfr938 A T 9: 39,078,237 C169* probably null Het
Pclo T A 5: 14,766,731 D4540E unknown Het
Ppp6r1 A G 7: 4,643,252 V150A probably damaging Het
Prdm2 T C 4: 143,135,088 D544G probably benign Het
Rab27b A G 18: 69,986,996 I128T possibly damaging Het
Slc25a1 G T 16: 17,925,820 T195K probably damaging Het
Tex10 T C 4: 48,459,915 N479D probably benign Het
Thsd7b G T 1: 129,628,885 W326L probably damaging Het
Tril T C 6: 53,820,057 D60G probably benign Het
Ttn C T 2: 76,785,281 R14984H probably damaging Het
Uba2 G A 7: 34,144,514 T12I probably damaging Het
Vmn2r107 T C 17: 20,357,958 probably benign Het
Vti1a A G 19: 55,499,271 K183R probably benign Het
Zkscan16 T C 4: 58,956,915 V399A probably benign Het
Other mutations in Olfr478
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01350:Olfr478 APN 7 108031680 missense probably damaging 1.00
IGL01457:Olfr478 APN 7 108032121 missense possibly damaging 0.90
IGL03156:Olfr478 APN 7 108032351 utr 5 prime probably benign
IGL03271:Olfr478 APN 7 108031507 missense probably damaging 0.96
R0660:Olfr478 UTSW 7 108031615 missense probably damaging 1.00
R0722:Olfr478 UTSW 7 108032334 missense probably benign 0.00
R1468:Olfr478 UTSW 7 108032388 intron probably null
R1468:Olfr478 UTSW 7 108032388 intron probably null
R2172:Olfr478 UTSW 7 108031467 missense probably damaging 1.00
R4274:Olfr478 UTSW 7 108031544 missense probably benign 0.01
R5164:Olfr478 UTSW 7 108032280 missense possibly damaging 0.47
R5501:Olfr478 UTSW 7 108032153 nonsense probably null
R7586:Olfr478 UTSW 7 108031921 missense probably benign 0.00
Posted On2016-08-02