Incidental Mutation 'IGL03381:Olfr1462'
ID420680
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1462
Ensembl Gene ENSMUSG00000094721
Gene Nameolfactory receptor 1462
SynonymsGA_x6K02T2RE5P-3517488-3518411, MOR202-13
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.082) question?
Stock #IGL03381
Quality Score
Status
Chromosome19
Chromosomal Location13185734-13193775 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 13191405 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 246 (V246D)
Ref Sequence ENSEMBL: ENSMUSP00000147174 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076832] [ENSMUST00000208533]
Predicted Effect probably damaging
Transcript: ENSMUST00000076832
AA Change: V246D

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000076107
Gene: ENSMUSG00000094721
AA Change: V246D

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 1.3e-51 PFAM
Pfam:7tm_1 39 288 6e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000208533
AA Change: V246D

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; 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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921507P07Rik T C 6: 50,589,136 S120G probably damaging Het
A330017A19Rik T C 17: 46,889,886 probably benign Het
Abca16 T C 7: 120,527,818 F1243S probably benign Het
Adgrv1 A G 13: 81,517,967 V1990A probably damaging Het
Arhgdib G A 6: 136,932,316 T69I probably benign Het
Atf2 G A 2: 73,828,668 A214V probably benign Het
Ccr2 G A 9: 124,106,372 V230I probably benign Het
Cnksr1 T C 4: 134,232,171 E384G probably damaging Het
Epha5 T A 5: 84,331,332 D271V probably damaging Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Gm13083 T C 4: 143,617,055 probably benign Het
Gpr15 A G 16: 58,717,976 F250S probably damaging Het
Gzmf A T 14: 56,206,993 V41E probably benign Het
H2-T10 C T 17: 36,119,354 D232N probably benign Het
H2-T10 T A 17: 36,119,357 K231* probably null Het
Hsd3b6 A G 3: 98,807,812 V88A possibly damaging Het
Kit C T 5: 75,607,128 T57M probably benign Het
Klhl22 A G 16: 17,792,727 D614G possibly damaging Het
Matr3 T A 18: 35,579,025 probably benign Het
Mff A G 1: 82,741,940 Y213C probably damaging Het
Mrnip A G 11: 50,199,590 T194A probably benign Het
Msh6 T C 17: 87,985,109 F431L probably damaging Het
Mttp G A 3: 138,104,943 R637C probably damaging Het
Nlrc3 A G 16: 3,964,315 V410A probably benign Het
Olfr1225 A G 2: 89,171,179 I11T possibly damaging Het
Olfr69 T C 7: 103,767,837 I187V probably benign Het
Psip1 T C 4: 83,485,785 T2A probably benign Het
Rbm33 T C 5: 28,394,392 F961L unknown Het
Rhbdl2 T C 4: 123,822,817 V189A possibly damaging Het
Rpap2 C T 5: 107,620,201 P302S probably benign Het
Sec23ip T A 7: 128,750,305 V32D probably damaging Het
Sh3yl1 T C 12: 30,926,837 I47T possibly damaging Het
Tenm2 A C 11: 36,068,411 S1104A probably benign Het
Ufd1 A G 16: 18,825,757 D190G probably damaging Het
Ugt1a7c T C 1: 88,095,790 F224L probably benign Het
Utp20 G T 10: 88,822,005 F64L probably damaging Het
Vmn1r198 A G 13: 22,354,836 Y164C probably benign Het
Wdcp T A 12: 4,851,926 V594D probably damaging Het
Xirp2 A C 2: 67,514,226 E2270D probably benign Het
Other mutations in Olfr1462
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01114:Olfr1462 APN 19 13191234 missense possibly damaging 0.60
IGL01999:Olfr1462 APN 19 13191560 missense probably damaging 0.99
IGL02326:Olfr1462 APN 19 13191415 nonsense probably null
R1184:Olfr1462 UTSW 19 13191375 missense probably damaging 0.99
R1434:Olfr1462 UTSW 19 13191298 missense probably benign 0.19
R2161:Olfr1462 UTSW 19 13191309 missense probably damaging 0.99
R2399:Olfr1462 UTSW 19 13191345 missense probably benign 0.02
R4583:Olfr1462 UTSW 19 13190698 missense probably damaging 1.00
R5937:Olfr1462 UTSW 19 13191311 missense probably damaging 1.00
Posted On2016-08-02