Incidental Mutation 'IGL02580:Olfr578'
ID299328
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr578
Ensembl Gene ENSMUSG00000045792
Gene Nameolfactory receptor 578
SynonymsMOR7-1, GA_x6K02T2PBJ9-5696486-5695545
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.106) question?
Stock #IGL02580
Quality Score
Status
Chromosome7
Chromosomal Location102981608-102989324 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 102984702 bp
ZygosityHeterozygous
Amino Acid Change Serine to Asparagine at position 154 (S154N)
Ref Sequence ENSEMBL: ENSMUSP00000149209 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056235] [ENSMUST00000215606]
Predicted Effect probably damaging
Transcript: ENSMUST00000056235
AA Change: S154N

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000058167
Gene: ENSMUSG00000045792
AA Change: S154N

DomainStartEndE-ValueType
Pfam:7tm_4 33 311 5e-130 PFAM
Pfam:7TM_GPCR_Srsx 37 309 1.6e-7 PFAM
Pfam:7tm_1 43 294 3.8e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215606
AA Change: S154N

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acpp A T 9: 104,326,948 I49N probably damaging Het
Aqp8 T C 7: 123,466,730 probably benign Het
Atrnl1 T C 19: 57,714,576 probably benign Het
Cdh1 A G 8: 106,649,018 T63A probably benign Het
Cenpf A G 1: 189,657,441 L1398S probably benign Het
Ctdp1 T A 18: 80,450,090 S397C probably benign Het
Cyp2c37 T A 19: 39,994,498 V177D probably damaging Het
Elmo3 A T 8: 105,308,494 D419V probably damaging Het
Fabp1 T C 6: 71,203,144 S100P probably damaging Het
Hcfc2 A T 10: 82,728,422 N485I probably benign Het
Igkv10-95 A G 6: 68,680,652 T51A probably benign Het
Iqub A G 6: 24,501,399 I184T probably benign Het
Map2k6 G A 11: 110,490,841 R71H probably damaging Het
Mon1b G T 8: 113,638,823 R261L possibly damaging Het
Ncapg2 T C 12: 116,420,689 S257P probably damaging Het
Nusap1 T C 2: 119,648,890 probably benign Het
Nwd2 A G 5: 63,808,169 R1699G probably damaging Het
Olfm3 A G 3: 115,122,508 N363S probably damaging Het
Olfr1158 T C 2: 87,990,513 V134A probably benign Het
Pirb T C 7: 3,714,206 probably null Het
Plch2 G A 4: 154,984,764 T1135I probably benign Het
Riox2 G A 16: 59,486,573 V276I probably benign Het
Slc11a1 A G 1: 74,380,259 D144G probably damaging Het
Usp40 C A 1: 87,980,966 probably null Het
Vars2 G A 17: 35,660,885 A73V possibly damaging Het
Other mutations in Olfr578
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02658:Olfr578 APN 7 102984330 missense probably benign 0.00
R0833:Olfr578 UTSW 7 102984836 missense possibly damaging 0.50
R1470:Olfr578 UTSW 7 102984323 nonsense probably null
R1470:Olfr578 UTSW 7 102984323 nonsense probably null
R2029:Olfr578 UTSW 7 102984271 missense probably damaging 0.99
R2249:Olfr578 UTSW 7 102984440 missense possibly damaging 0.74
R2413:Olfr578 UTSW 7 102984802 missense probably damaging 1.00
R2898:Olfr578 UTSW 7 102984877 missense probably benign 0.19
R4441:Olfr578 UTSW 7 102984309 missense possibly damaging 0.65
R5696:Olfr578 UTSW 7 102984541 missense probably benign 0.02
R6810:Olfr578 UTSW 7 102984835 missense probably damaging 1.00
R7263:Olfr578 UTSW 7 102984317 nonsense probably null
R7366:Olfr578 UTSW 7 102984516 missense probably damaging 1.00
R7952:Olfr578 UTSW 7 102984514 missense probably benign 0.00
X0022:Olfr578 UTSW 7 102985026 missense probably benign 0.02
X0028:Olfr578 UTSW 7 102984343 missense probably benign 0.00
Posted On2015-04-16