Incidental Mutation 'IGL02213:Olfr609'
ID284756
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr609
Ensembl Gene ENSMUSG00000046396
Gene Nameolfactory receptor 609
SynonymsMOR9-1, GA_x6K02T2PBJ9-6207735-6206776
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.091) question?
Stock #IGL02213
Quality Score
Status
Chromosome7
Chromosomal Location103490025-103498062 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 103492488 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 130 (H130L)
Ref Sequence ENSEMBL: ENSMUSP00000149804 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055787] [ENSMUST00000216075] [ENSMUST00000216360]
Predicted Effect probably benign
Transcript: ENSMUST00000055787
AA Change: H130L

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000051749
Gene: ENSMUSG00000046396
AA Change: H130L

DomainStartEndE-ValueType
Pfam:7tm_4 30 308 1.4e-119 PFAM
Pfam:7TM_GPCR_Srsx 34 169 2.2e-10 PFAM
Pfam:7tm_1 40 291 3.6e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216075
AA Change: H130L

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000216360
AA Change: H130L

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg1 G A 9: 54,615,970 R458C probably damaging Het
Aldh6a1 T A 12: 84,432,552 probably benign Het
Ankrd13a C T 5: 114,785,968 R42W probably damaging Het
Arhgef17 T C 7: 100,890,426 M73V probably benign Het
Borcs6 A G 11: 69,059,853 E19G probably benign Het
Cacna2d2 C T 9: 107,514,048 R425C probably damaging Het
Cap2 T A 13: 46,635,611 probably benign Het
Ccdc146 C T 5: 21,316,904 R374H probably benign Het
Cdk5rap2 A G 4: 70,317,602 probably benign Het
Cyp3a57 A G 5: 145,381,280 D357G probably damaging Het
Dleu7 C T 14: 62,276,955 V193M probably benign Het
Dmxl1 T A 18: 49,877,674 probably benign Het
Dnah7b T A 1: 46,233,592 F2293L probably damaging Het
Fgf22 G T 10: 79,756,615 V75L probably damaging Het
Fras1 C A 5: 96,645,871 C1017* probably null Het
Frmd3 A C 4: 74,135,872 I173L probably benign Het
Fst T C 13: 114,455,854 N109S possibly damaging Het
Greb1 A G 12: 16,706,232 L801P probably damaging Het
Ift88 A G 14: 57,478,045 D515G probably damaging Het
Kcnh7 T C 2: 62,739,362 D730G probably damaging Het
Mbd1 A T 18: 74,275,382 I231F probably damaging Het
Mre11a T A 9: 14,811,884 F358I probably damaging Het
Mroh9 G T 1: 163,058,079 T328K probably damaging Het
Nostrin T C 2: 69,183,918 L406P probably benign Het
Ntrk3 T A 7: 78,462,931 Q159L probably benign Het
Oca2 T C 7: 56,321,484 probably benign Het
Olfr1299 A T 2: 111,664,675 T150S probably benign Het
Olfr474 T C 7: 107,955,304 I221T probably damaging Het
Pfdn4 C T 2: 170,515,775 Q21* probably null Het
Pkd1l3 T C 8: 109,631,345 F823S probably damaging Het
Rnf212 C T 5: 108,747,410 probably benign Het
Sbspon T C 1: 15,858,926 S214G probably benign Het
Slc12a7 T C 13: 73,797,703 probably null Het
Ugt3a2 A T 15: 9,370,224 M485L probably benign Het
Vav1 T C 17: 57,305,351 V561A possibly damaging Het
Vldlr A G 19: 27,241,326 T485A probably benign Het
Wiz T C 17: 32,367,860 T159A probably benign Het
Other mutations in Olfr609
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02309:Olfr609 APN 7 103491999 missense probably damaging 0.99
R0782:Olfr609 UTSW 7 103492515 missense probably damaging 0.99
R0988:Olfr609 UTSW 7 103492747 missense probably damaging 1.00
R4013:Olfr609 UTSW 7 103492633 missense probably benign
R4600:Olfr609 UTSW 7 103492581 missense probably damaging 0.99
R4735:Olfr609 UTSW 7 103492060 missense possibly damaging 0.61
R4941:Olfr609 UTSW 7 103492251 missense probably damaging 1.00
R5204:Olfr609 UTSW 7 103492540 missense probably damaging 1.00
R5281:Olfr609 UTSW 7 103491973 missense probably benign 0.00
R5941:Olfr609 UTSW 7 103492720 missense possibly damaging 0.95
R6319:Olfr609 UTSW 7 103492725 missense possibly damaging 0.84
R6505:Olfr609 UTSW 7 103492651 missense probably damaging 1.00
R7258:Olfr609 UTSW 7 103492589 missense probably damaging 1.00
X0065:Olfr609 UTSW 7 103491918 makesense probably null
Z1177:Olfr609 UTSW 7 103492610 missense probably benign
Posted On2015-04-16