Incidental Mutation 'IGL00944:Olfr1089'
ID26933
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1089
Ensembl Gene ENSMUSG00000111711
Gene Nameolfactory receptor 1089
SynonymsMOR193-1, GA_x6K02T2Q125-48226321-48225386
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.308) question?
Stock #IGL00944
Quality Score
Status
Chromosome2
Chromosomal Location86732584-86733701 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 86733561 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 17 (I17T)
Ref Sequence ENSEMBL: ENSMUSP00000149509 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000214317]
Predicted Effect possibly damaging
Transcript: ENSMUST00000099876
AA Change: I17T

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000097461
Gene: ENSMUSG00000075173
AA Change: I17T

DomainStartEndE-ValueType
Pfam:7tm_4 31 310 4.7e-47 PFAM
Pfam:7tm_1 41 290 2e-20 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000214317
AA Change: I17T

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
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
Atp10b A G 11: 43,202,161 N441S probably damaging Het
Bod1l A G 5: 41,816,823 C2383R probably benign Het
Dapk3 G T 10: 81,184,076 probably null Het
Dock6 T C 9: 21,846,634 D58G possibly damaging Het
Elmsan1 A G 12: 84,160,548 probably benign Het
Etl4 G A 2: 20,530,054 V107I possibly damaging Het
Fam163b A G 2: 27,113,585 L19P probably damaging Het
Fbxl20 A C 11: 98,113,242 F73L probably damaging Het
Foxj2 T C 6: 122,839,635 L492P probably damaging Het
Hfm1 A T 5: 106,902,130 V391E possibly damaging Het
Ift74 T C 4: 94,693,022 Y586H probably damaging Het
Klhl12 A G 1: 134,483,753 N280S probably benign Het
Lctl T A 9: 64,133,129 Y292* probably null Het
Ltb C A 17: 35,194,666 Q49K possibly damaging Het
Mapk1 T A 16: 17,035,458 D289E probably benign Het
Mpp6 T C 6: 50,163,456 V152A possibly damaging Het
Mroh2b C T 15: 4,951,127 probably benign Het
Myot T C 18: 44,337,114 S53P possibly damaging Het
Olfr1447 A T 19: 12,901,355 Y142N probably benign Het
Opn5 G A 17: 42,611,228 L28F probably damaging Het
Pld1 T A 3: 28,045,098 probably null Het
Rc3h2 A G 2: 37,398,238 probably benign Het
Robo2 T A 16: 73,933,697 H1009L possibly damaging Het
Setd7 T A 3: 51,533,038 D194V probably damaging Het
Sh3bp1 A T 15: 78,905,114 D288V possibly damaging Het
Smpd4 T C 16: 17,642,757 I809T probably benign Het
Spata6 C T 4: 111,805,928 probably benign Het
Trnau1ap C A 4: 132,328,506 V30L possibly damaging Het
Trpm4 T C 7: 45,318,349 H386R probably benign Het
Ttc3 T G 16: 94,426,761 probably null Het
Ufd1 T C 16: 18,825,031 V180A possibly damaging Het
Vmn2r102 A G 17: 19,678,892 I499V probably damaging Het
Zfp112 C A 7: 24,125,596 Q330K probably benign Het
Zfp668 G A 7: 127,867,907 R166W probably damaging Het
Other mutations in Olfr1089
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Olfr1089 APN 2 86733235 missense possibly damaging 0.90
IGL01478:Olfr1089 APN 2 86733329 nonsense probably null
IGL01636:Olfr1089 APN 2 86733601 nonsense probably null
IGL01887:Olfr1089 APN 2 86732686 missense probably benign 0.03
IGL02008:Olfr1089 APN 2 86733177 missense possibly damaging 0.90
IGL02470:Olfr1089 APN 2 86733585 missense probably damaging 0.97
IGL02560:Olfr1089 APN 2 86733234 missense probably damaging 1.00
R1782:Olfr1089 UTSW 2 86732682 missense probably benign 0.03
R2234:Olfr1089 UTSW 2 86733577 missense possibly damaging 0.94
R2866:Olfr1089 UTSW 2 86733429 missense possibly damaging 0.95
R3027:Olfr1089 UTSW 2 86733586 missense possibly damaging 0.79
R4275:Olfr1089 UTSW 2 86733592 missense probably damaging 1.00
R4799:Olfr1089 UTSW 2 86732674 splice site probably null
R5016:Olfr1089 UTSW 2 86732746 missense probably benign 0.17
R5154:Olfr1089 UTSW 2 86732777 nonsense probably null
R5355:Olfr1089 UTSW 2 86733336 missense probably damaging 1.00
R5624:Olfr1089 UTSW 2 86732805 missense probably benign 0.45
R6265:Olfr1089 UTSW 2 86732955 missense probably damaging 0.99
R7382:Olfr1089 UTSW 2 86732785 missense probably benign 0.02
R8009:Olfr1089 UTSW 2 86733504 missense probably damaging 0.99
R8850:Olfr1089 UTSW 2 86732958 missense probably damaging 0.99
X0028:Olfr1089 UTSW 2 86732748 missense probably damaging 0.99
Posted On2013-04-17