Incidental Mutation 'IGL01372:Olfr206'
ID76190
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr206
Ensembl Gene ENSMUSG00000066257
Gene Nameolfactory receptor 206
SynonymsMOR182-4, GA_x54KRFPKG5P-55560552-55559632
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock #IGL01372
Quality Score
Status
Chromosome16
Chromosomal Location59344675-59349246 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 59345161 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 180 (I180T)
Ref Sequence ENSEMBL: ENSMUSP00000146906 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084791] [ENSMUST00000207927]
Predicted Effect probably damaging
Transcript: ENSMUST00000084791
AA Change: I180T

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000081849
Gene: ENSMUSG00000066257
AA Change: I180T

DomainStartEndE-ValueType
Pfam:7tm_4 30 306 6.2e-48 PFAM
Pfam:7TM_GPCR_Srsx 34 295 2.6e-5 PFAM
Pfam:7tm_1 40 289 3.7e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000207927
AA Change: I180T

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130204L05Rik A G 3: 91,088,309 probably benign Het
Abca7 G A 10: 80,006,255 D1049N probably benign Het
Ankdd1a A T 9: 65,504,139 L362Q probably damaging Het
Ankib1 A T 5: 3,772,594 N37K probably damaging Het
Ankrd55 T A 13: 112,323,143 D90E probably damaging Het
Atp1a2 T C 1: 172,278,943 R831G probably damaging Het
Bcar3 A G 3: 122,523,294 D638G probably damaging Het
Cabp4 T A 19: 4,139,323 E78D probably benign Het
Cmtm8 A G 9: 114,790,687 V130A possibly damaging Het
Cyth3 A G 5: 143,692,638 T66A possibly damaging Het
Dmbt1 A T 7: 131,103,679 I1171F possibly damaging Het
Dnah10 G A 5: 124,779,154 G2060D probably damaging Het
Dnah11 T C 12: 118,192,399 H172R probably damaging Het
Dnah5 C T 15: 28,230,490 A178V probably benign Het
Efcab6 T G 15: 84,044,304 M30L possibly damaging Het
Ehbp1l1 T C 19: 5,715,789 probably benign Het
Eps15 G A 4: 109,322,106 E230K probably damaging Het
Fam91a1 A G 15: 58,430,062 I258M probably damaging Het
Gm5581 G A 6: 131,168,403 noncoding transcript Het
Hrh1 G A 6: 114,479,997 V80I probably damaging Het
Ldhd G A 8: 111,628,400 H290Y probably benign Het
Lepr G A 4: 101,735,577 E130K possibly damaging Het
Mycbpap T C 11: 94,506,456 I40V possibly damaging Het
Nrap T A 19: 56,329,102 probably null Het
Olfr342 T A 2: 36,527,451 I13N probably benign Het
Opn5 T A 17: 42,580,544 probably null Het
Otop3 A T 11: 115,345,104 T521S possibly damaging Het
Pcsk5 T G 19: 17,617,744 T409P probably damaging Het
Pde9a T A 17: 31,461,711 F322Y probably benign Het
Pgm5 T A 19: 24,733,621 I406F probably damaging Het
Prrc2b T C 2: 32,223,930 S1998P probably damaging Het
Prune2 T C 19: 17,125,069 Y2531H probably damaging Het
Ptprk T C 10: 28,569,927 V932A probably benign Het
Rapgef6 T A 11: 54,668,611 probably benign Het
Rgsl1 T A 1: 153,826,141 Y224F probably damaging Het
Rps6kl1 A T 12: 85,146,889 C143S probably damaging Het
Slc5a5 G A 8: 70,890,376 probably benign Het
Tfb2m A G 1: 179,542,313 S182P probably damaging Het
Tmc3 A G 7: 83,612,538 H608R probably damaging Het
Trim37 T A 11: 87,184,946 H459Q probably benign Het
Vmn2r71 A T 7: 85,620,814 probably benign Het
Xirp2 T C 2: 67,513,990 S2192P possibly damaging Het
Other mutations in Olfr206
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02106:Olfr206 APN 16 59345024 missense probably benign 0.00
IGL02839:Olfr206 APN 16 59345390 missense probably benign 0.01
IGL03010:Olfr206 APN 16 59344772 utr 3 prime probably benign
R1163:Olfr206 UTSW 16 59345062 missense probably damaging 0.99
R1507:Olfr206 UTSW 16 59345493 missense probably damaging 1.00
R1670:Olfr206 UTSW 16 59345427 missense possibly damaging 0.79
R2881:Olfr206 UTSW 16 59344852 missense probably damaging 1.00
R2925:Olfr206 UTSW 16 59345343 nonsense probably null
R4479:Olfr206 UTSW 16 59344867 missense probably damaging 0.99
R4891:Olfr206 UTSW 16 59345471 missense possibly damaging 0.87
R5085:Olfr206 UTSW 16 59345086 missense probably damaging 0.99
R5099:Olfr206 UTSW 16 59344903 missense probably benign 0.00
R5218:Olfr206 UTSW 16 59344907 missense probably benign
R6019:Olfr206 UTSW 16 59345435 missense possibly damaging 0.48
R6773:Olfr206 UTSW 16 59345216 missense probably damaging 1.00
R7068:Olfr206 UTSW 16 59345204 missense possibly damaging 0.94
R7173:Olfr206 UTSW 16 59345147 missense probably benign 0.00
R7192:Olfr206 UTSW 16 59345179 missense probably benign 0.44
Posted On2013-10-07