Incidental Mutation 'IGL03265:Or2t45'
ID 415065
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or2t45
Ensembl Gene ENSMUSG00000056959
Gene Name olfactory receptor family 2 subfamily T member 45
Synonyms GA_x6K02T2NKPP-630272-629343, MOR278-1, Olfr315
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # IGL03265
Quality Score
Status
Chromosome 11
Chromosomal Location 58668915-58669912 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58669697 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 248 (V248A)
Ref Sequence ENSEMBL: ENSMUSP00000144944 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081533] [ENSMUST00000203256] [ENSMUST00000205189]
AlphaFold Q8VFG7
Predicted Effect probably damaging
Transcript: ENSMUST00000081533
AA Change: V248A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000080248
Gene: ENSMUSG00000056959
AA Change: V248A

DomainStartEndE-ValueType
Pfam:7tm_4 29 308 3.5e-51 PFAM
Pfam:7TM_GPCR_Srsx 34 252 1.3e-7 PFAM
Pfam:7tm_1 41 290 6.1e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000203256
AA Change: V248A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000144944
Gene: ENSMUSG00000056959
AA Change: V248A

DomainStartEndE-ValueType
Pfam:7tm_4 29 126 1.2e-13 PFAM
Pfam:7TM_GPCR_Srsx 35 126 1.8e-5 PFAM
Pfam:7tm_1 41 126 4.4e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205189
SMART Domains Protein: ENSMUSP00000145387
Gene: ENSMUSG00000059504

DomainStartEndE-ValueType
Pfam:7tm_4 26 259 8.9e-42 PFAM
Pfam:7TM_GPCR_Srsx 33 246 9.4e-6 PFAM
Pfam:7tm_1 39 259 1.1e-25 PFAM
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a C A 11: 109,943,929 (GRCm39) M1113I probably benign Het
Acvr1b A G 15: 101,100,959 (GRCm39) R374G probably damaging Het
Akr1a1 A G 4: 116,495,014 (GRCm39) M286T probably benign Het
Anapc1 T C 2: 128,469,117 (GRCm39) S1575G probably damaging Het
Apba2 A G 7: 64,345,071 (GRCm39) D87G probably damaging Het
Arhgap21 A G 2: 20,854,439 (GRCm39) F1641S probably benign Het
Atad2b T A 12: 5,074,628 (GRCm39) H1062Q probably benign Het
Bivm A G 1: 44,181,005 (GRCm39) R396G probably damaging Het
Bltp1 T A 3: 37,102,140 (GRCm39) D4777E probably benign Het
Bmi1 T A 2: 18,686,672 (GRCm39) M17K possibly damaging Het
Bptf T C 11: 106,945,454 (GRCm39) N2480S probably benign Het
Cacna2d3 T C 14: 28,674,243 (GRCm39) E944G probably damaging Het
Ces2a C T 8: 105,464,075 (GRCm39) H236Y possibly damaging Het
Dnah7a T C 1: 53,568,007 (GRCm39) D1863G probably benign Het
Dnajc17 C A 2: 119,016,199 (GRCm39) E91D probably benign Het
Dus2 C A 8: 106,760,423 (GRCm39) probably benign Het
Epha6 T C 16: 59,880,594 (GRCm39) probably benign Het
Erap1 A T 13: 74,812,246 (GRCm39) T354S probably damaging Het
Fbxo11 T C 17: 88,300,259 (GRCm39) H851R probably damaging Het
Gm20532 G A 2: 26,522,696 (GRCm39) C90Y unknown Het
Gpr21 T C 2: 37,408,086 (GRCm39) Y211H probably damaging Het
Hectd4 A G 5: 121,398,002 (GRCm39) probably benign Het
Hephl1 G A 9: 14,972,255 (GRCm39) T895I probably benign Het
Hey1 T C 3: 8,729,974 (GRCm39) Y161C probably benign Het
Kdr A G 5: 76,121,433 (GRCm39) Y526H probably damaging Het
Lpp A G 16: 24,580,737 (GRCm39) Y151C probably damaging Het
Macc1 A G 12: 119,410,711 (GRCm39) N493S probably benign Het
Or52s6 C A 7: 103,091,655 (GRCm39) R225L probably benign Het
Or5m10b T A 2: 85,699,494 (GRCm39) M186K possibly damaging Het
Or5t16 T A 2: 86,819,424 (GRCm39) Y32F probably damaging Het
Or6c1b A T 10: 129,272,794 (GRCm39) T38S possibly damaging Het
Pcdhb21 A G 18: 37,648,206 (GRCm39) D445G probably damaging Het
Prkra T C 2: 76,470,614 (GRCm39) N123D probably benign Het
Slc25a33 A C 4: 149,846,893 (GRCm39) L56R probably damaging Het
Usp36 A G 11: 118,155,635 (GRCm39) V714A possibly damaging Het
Vmn1r174 T A 7: 23,453,898 (GRCm39) L188* probably null Het
Vmn2r12 A G 5: 109,239,936 (GRCm39) V209A probably benign Het
Zfp809 A G 9: 22,154,339 (GRCm39) Y352C probably benign Het
Other mutations in Or2t45
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01526:Or2t45 APN 11 58,669,123 (GRCm39) missense probably benign 0.21
R0395:Or2t45 UTSW 11 58,669,195 (GRCm39) missense probably benign 0.05
R1760:Or2t45 UTSW 11 58,669,195 (GRCm39) missense possibly damaging 0.79
R1782:Or2t45 UTSW 11 58,669,631 (GRCm39) missense probably damaging 1.00
R2330:Or2t45 UTSW 11 58,669,825 (GRCm39) missense probably damaging 1.00
R3831:Or2t45 UTSW 11 58,669,571 (GRCm39) splice site probably null
R4898:Or2t45 UTSW 11 58,669,132 (GRCm39) missense possibly damaging 0.60
R5227:Or2t45 UTSW 11 58,669,705 (GRCm39) missense possibly damaging 0.70
R6257:Or2t45 UTSW 11 58,669,829 (GRCm39) missense probably damaging 0.96
R7253:Or2t45 UTSW 11 58,669,822 (GRCm39) missense probably damaging 1.00
R8751:Or2t45 UTSW 11 58,669,213 (GRCm39) missense probably benign 0.00
R9803:Or2t45 UTSW 11 58,669,595 (GRCm39) missense probably benign 0.10
Posted On 2016-08-02