Incidental Mutation 'IGL01825:Olfr506'
ID154637
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr506
Ensembl Gene ENSMUSG00000058244
Gene Nameolfactory receptor 506
SynonymsGA_x6K02T2PBJ9-10942040-10942984, MOR204-23
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.075) question?
Stock #IGL01825
Quality Score
Status
Chromosome7
Chromosomal Location108610787-108615340 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 108613054 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Lysine at position 249 (T249K)
Ref Sequence ENSEMBL: ENSMUSP00000147623 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077343] [ENSMUST00000209296]
Predicted Effect probably damaging
Transcript: ENSMUST00000077343
AA Change: T249K

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000076566
Gene: ENSMUSG00000058244
AA Change: T249K

DomainStartEndE-ValueType
Pfam:7tm_4 34 311 1e-53 PFAM
Pfam:7tm_1 44 293 4e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000209296
AA Change: T249K

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; 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
Adam30 A G 3: 98,161,901 E222G probably damaging Het
Aftph T A 11: 20,726,569 I347F possibly damaging Het
Braf T C 6: 39,639,590 D549G probably damaging Het
Cnbd2 T A 2: 156,338,709 L142Q probably damaging Het
Ctbp1 C T 5: 33,259,133 probably null Het
Cuta T C 17: 26,938,464 I98V probably benign Het
Dip2a A T 10: 76,272,680 C1226* probably null Het
Dnah6 T C 6: 73,065,776 E3221G probably damaging Het
Grm3 A G 5: 9,511,600 L750P probably damaging Het
Herc1 T C 9: 66,399,807 Y970H probably benign Het
Hnrnpr T A 4: 136,339,539 Y470* probably null Het
Kmt2c T A 5: 25,310,596 I2750F probably damaging Het
Lrig3 A T 10: 126,010,017 T772S probably damaging Het
Mthfd2 T C 6: 83,310,511 T191A probably benign Het
Pfkp A T 13: 6,620,978 N175K probably damaging Het
Plcz1 T C 6: 140,003,916 D451G probably benign Het
Plxna2 T A 1: 194,788,902 C994S probably damaging Het
Ptdss1 T C 13: 66,987,822 I381T probably benign Het
Scgb2b24 G T 7: 33,739,227 T20K probably damaging Het
Slc23a1 A T 18: 35,624,203 W272R probably damaging Het
Tcf20 G A 15: 82,852,966 T1428I probably benign Het
Tnfsf9 A G 17: 57,107,335 D254G possibly damaging Het
Ttc4 C T 4: 106,671,619 probably null Het
Xdh A G 17: 73,891,245 Y1216H probably damaging Het
Zbtb21 G T 16: 97,952,689 N159K possibly damaging Het
Other mutations in Olfr506
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02480:Olfr506 APN 7 108612811 missense probably benign
IGL02802:Olfr506 UTSW 7 108612462 missense probably damaging 0.99
R0294:Olfr506 UTSW 7 108613150 missense probably damaging 1.00
R0398:Olfr506 UTSW 7 108612955 missense probably benign 0.30
R0452:Olfr506 UTSW 7 108612370 missense possibly damaging 0.62
R3788:Olfr506 UTSW 7 108613073 nonsense probably null
R7065:Olfr506 UTSW 7 108613059 missense probably damaging 0.99
R7345:Olfr506 UTSW 7 108613063 missense probably benign 0.11
R7671:Olfr506 UTSW 7 108612991 missense probably damaging 1.00
R8270:Olfr506 UTSW 7 108612943 missense probably benign 0.21
Posted On2014-02-04