Incidental Mutation 'IGL02480:Olfr506'
ID295137
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 #IGL02480
Quality Score
Status
Chromosome7
Chromosomal Location108610787-108615340 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 108612811 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 168 (T168I)
Ref Sequence ENSEMBL: ENSMUSP00000147623 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077343] [ENSMUST00000209296]
Predicted Effect probably benign
Transcript: ENSMUST00000077343
AA Change: T168I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000076566
Gene: ENSMUSG00000058244
AA Change: T168I

DomainStartEndE-ValueType
Pfam:7tm_4 34 311 1e-53 PFAM
Pfam:7tm_1 44 293 4e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209296
AA Change: T168I

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac T A 3: 60,039,487 I202K probably benign Het
Abcc1 T A 16: 14,404,005 S169T possibly damaging Het
Acsm1 A T 7: 119,656,042 I389F possibly damaging Het
Actn2 T A 13: 12,276,478 Q680L probably benign Het
Ankrd13d G A 19: 4,271,463 P404S possibly damaging Het
Ankrd46 G T 15: 36,483,996 probably benign Het
Arfip1 A G 3: 84,547,932 probably null Het
Asb15 A T 6: 24,570,746 L574F probably damaging Het
Cym T C 3: 107,213,522 I256V probably benign Het
Cyp3a44 C T 5: 145,794,905 E144K possibly damaging Het
Efna1 T C 3: 89,272,595 E109G probably benign Het
Eml1 C A 12: 108,521,696 Q556K probably benign Het
Eml5 T G 12: 98,876,243 T199P probably damaging Het
Etl4 A C 2: 20,788,524 M687L probably damaging Het
Fam199x C A X: 137,050,039 T56K probably damaging Het
Fat4 A G 3: 39,010,430 D4845G probably damaging Het
Gm4987 T A X: 46,456,096 noncoding transcript Het
Gm5828 C A 1: 16,769,542 noncoding transcript Het
Gm5930 T C 14: 44,337,630 Y68C probably benign Het
Gm8994 A T 6: 136,329,215 I225F probably damaging Het
Gucy1a1 C T 3: 82,097,733 V582M probably damaging Het
Haghl G T 17: 25,783,059 A220E probably damaging Het
Hsf5 G A 11: 87,631,657 A359T possibly damaging Het
Igsf9 C A 1: 172,496,913 D799E possibly damaging Het
Igsf9 A T 1: 172,484,778 probably benign Het
Itga1 A T 13: 114,987,648 F703I probably damaging Het
Kcna6 G A 6: 126,738,568 P453S probably damaging Het
Lzic A T 4: 149,486,803 N15I probably damaging Het
Olfr1278 A G 2: 111,292,513 I82V possibly damaging Het
Olfr136 A G 17: 38,335,423 R89G probably benign Het
Olfr338 T G 2: 36,377,492 C239G probably damaging Het
P4ha1 T C 10: 59,343,752 Y141H probably damaging Het
Paxx G A 2: 25,460,012 P164S probably damaging Het
Pgd A G 4: 149,156,618 V278A probably damaging Het
Pik3c2g A G 6: 139,852,800 Y352C probably damaging Het
Pkd2l2 A G 18: 34,438,790 N614S possibly damaging Het
Poli T C 18: 70,525,406 T86A probably benign Het
Psd2 G A 18: 36,006,083 R528H probably damaging Het
Ptchd4 G T 17: 42,502,540 C444F probably benign Het
Ptpra C A 2: 130,504,261 T114K probably benign Het
Rho A G 6: 115,935,544 N123S probably benign Het
Sdccag3 T A 2: 26,385,120 H342L probably damaging Het
Setd5 A G 6: 113,143,809 D993G probably damaging Het
Slc1a2 T C 2: 102,736,066 L38P probably damaging Het
Slc2a7 G A 4: 150,160,112 V346M possibly damaging Het
Slc43a1 A G 2: 84,839,584 I7V probably benign Het
Spag9 C T 11: 94,108,587 Q691* probably null Het
Timmdc1 A T 16: 38,522,401 V45D probably null Het
Tlr8 T A X: 167,244,183 H557L probably damaging Het
Other mutations in Olfr506
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01825:Olfr506 APN 7 108613054 missense probably damaging 0.97
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 On2015-04-16