Incidental Mutation 'IGL00332:Olfr1089'
ID332291
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? Probably non essential (E-score: 0.246) question?
Stock #IGL00332
Quality Score
Status
Chromosome2
Chromosomal Location86732584-86733701 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 86733235 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 126 (I126V)
Gene Model predicted gene model for transcript(s): [ENSMUST00000214317]
Predicted Effect possibly damaging
Transcript: ENSMUST00000099876
AA Change: I126V

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000097461
Gene: ENSMUSG00000075173
AA Change: I126V

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: I126V

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; 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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp6 T C 3: 97,176,421 Y404H possibly damaging Het
Adgrv1 T A 13: 81,472,877 probably benign Het
Akap13 A G 7: 75,728,919 K2107E probably damaging Het
Ankrd42 A G 7: 92,584,454 probably benign Het
Apba3 C T 10: 81,273,067 P555S probably damaging Het
Aplnr A G 2: 85,137,641 S337G probably benign Het
Arhgef40 A G 14: 51,988,960 N154D probably damaging Het
Asb14 A G 14: 26,912,041 K401R probably benign Het
Aspn C A 13: 49,566,492 T328K probably benign Het
Barhl2 C T 5: 106,455,499 A265T possibly damaging Het
Brca2 T A 5: 150,539,898 H1042Q probably benign Het
C3 A G 17: 57,226,004 L167P probably benign Het
Ccdc33 A G 9: 58,069,974 probably benign Het
Cdk10 T A 8: 123,230,324 M222K possibly damaging Het
Cfap45 C T 1: 172,535,345 probably benign Het
Chil3 T A 3: 106,148,701 N352I probably damaging Het
Chn2 G T 6: 54,295,922 probably null Het
Cpt1b T C 15: 89,420,863 E394G probably benign Het
Fam166b G A 4: 43,428,158 R100W possibly damaging Het
Fcgr2b T A 1: 170,961,230 N273I possibly damaging Het
Fpr-rs7 G A 17: 20,113,218 Q337* probably null Het
Fras1 T A 5: 96,739,358 N2666K possibly damaging Het
Gfra3 C T 18: 34,691,548 probably null Het
Gm4553 T C 7: 142,165,227 S155G unknown Het
Gpr75 C T 11: 30,891,590 T165I probably damaging Het
Gzmd A T 14: 56,130,280 C179S probably damaging Het
Hand1 T G 11: 57,831,749 H13P probably damaging Het
Irak3 C T 10: 120,178,067 probably null Het
Isl2 T A 9: 55,544,969 L275Q possibly damaging Het
Itgb2 T C 10: 77,557,406 V367A probably damaging Het
Katna1 T C 10: 7,762,994 probably benign Het
Myh6 A G 14: 54,946,993 M1627T probably benign Het
Naprt A G 15: 75,893,315 Y187H probably damaging Het
Nedd4 T A 9: 72,735,089 V550E probably damaging Het
Nt5c2 A G 19: 46,896,515 V252A possibly damaging Het
Olfr1504 C T 19: 13,887,581 V210I probably benign Het
P2ry2 A G 7: 100,998,186 V304A probably damaging Het
Pde4dip T C 3: 97,767,277 N108D probably benign Het
Pdgfrl A G 8: 40,985,623 T199A probably damaging Het
Plaa A G 4: 94,582,607 Y431H probably benign Het
Pls1 A T 9: 95,782,419 I177N possibly damaging Het
Plxna2 T C 1: 194,789,830 F1035L probably damaging Het
Ppp6r3 A T 19: 3,514,729 probably null Het
Prpf4b T C 13: 34,883,907 S240P probably benign Het
Reg2 T A 6: 78,406,221 Y50* probably null Het
Rev3l C T 10: 39,806,969 T361I probably benign Het
Rps4l A G 6: 148,354,885 probably benign Het
Scn11a A T 9: 119,769,916 F1183I probably damaging Het
Sh2b2 T C 5: 136,224,419 E327G probably damaging Het
Shank2 A G 7: 144,411,847 K1057R probably damaging Het
Sim2 T A 16: 94,114,944 Y255* probably null Het
Snx9 A G 17: 5,899,361 N112S probably benign Het
Sphkap T A 1: 83,280,516 I169F probably damaging Het
Spink5 A G 18: 43,967,044 T43A probably benign Het
Stac2 C T 11: 98,041,179 S265N probably benign Het
Tbx20 A G 9: 24,758,748 V91A probably damaging Het
Tgfbr2 C T 9: 116,110,189 R190H probably damaging Het
Ubr2 A G 17: 46,990,990 probably null Het
Wdfy3 C T 5: 101,915,338 probably null Het
Wdr82 T C 9: 106,184,250 V166A probably benign Het
Zfhx4 C T 3: 5,242,341 A209V probably damaging Het
Zfp518b T A 5: 38,673,766 T299S possibly damaging Het
Other mutations in Olfr1089
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00944:Olfr1089 APN 2 86733561 missense possibly damaging 0.80
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
X0028:Olfr1089 UTSW 2 86732748 missense probably damaging 0.99
Posted On2015-08-05