Incidental Mutation 'IGL01697:Olfr45'
ID104297
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr45
Ensembl Gene ENSMUSG00000066122
Gene Nameolfactory receptor 45
SynonymsIB6, GA_x6K02T2PBJ9-42837030-42837962, MOR253-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.057) question?
Stock #IGL01697
Quality Score
Status
Chromosome7
Chromosomal Location140681951-140696845 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 140691652 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 249 (V249A)
Ref Sequence ENSEMBL: ENSMUSP00000149309 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084454] [ENSMUST00000210241] [ENSMUST00000214637]
Predicted Effect possibly damaging
Transcript: ENSMUST00000084454
AA Change: V249A

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000081492
Gene: ENSMUSG00000066122
AA Change: V249A

DomainStartEndE-ValueType
Pfam:7tm_4 32 308 2.8e-50 PFAM
Pfam:7TM_GPCR_Srsx 36 176 1.2e-7 PFAM
Pfam:7tm_1 42 291 3.7e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210241
AA Change: V249A
Predicted Effect possibly damaging
Transcript: ENSMUST00000214637
AA Change: V249A

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430015G10Rik T A 4: 156,119,156 probably benign Het
Arid2 A C 15: 96,361,572 probably null Het
Cadm1 C A 9: 47,850,324 D435E probably damaging Het
Dagla A G 19: 10,271,198 F33L probably benign Het
Edrf1 A G 7: 133,643,730 H199R probably benign Het
F5 T A 1: 164,194,052 N1365K probably benign Het
Fam205c T A 4: 42,874,163 M2L probably benign Het
Gipc2 T G 3: 152,137,608 I131L probably benign Het
Gpc1 C T 1: 92,858,410 S507F possibly damaging Het
Grid1 A G 14: 35,309,257 D269G probably benign Het
Ighv12-3 A T 12: 114,366,953 M1K probably null Het
Kif5b T C 18: 6,226,871 H129R possibly damaging Het
Lipo3 A T 19: 33,559,565 C252S probably damaging Het
Mast4 A C 13: 102,767,893 N645K probably damaging Het
Megf9 T A 4: 70,433,472 T471S possibly damaging Het
Mmrn1 A G 6: 60,976,493 D586G possibly damaging Het
Ninl A T 2: 150,939,947 L1206Q probably damaging Het
Olfr1446 T A 19: 12,890,467 T37S probably benign Het
Olfr765 C A 10: 129,046,502 C187F probably damaging Het
Oog2 T A 4: 144,195,184 N221K possibly damaging Het
Pik3ap1 G A 19: 41,324,579 A365V probably damaging Het
Ppwd1 T C 13: 104,220,464 E181G probably benign Het
Scaf11 A C 15: 96,423,623 probably benign Het
Skint7 T A 4: 111,980,457 probably benign Het
Sox14 T C 9: 99,875,663 I8V probably benign Het
Stim1 A T 7: 102,425,969 probably benign Het
Ttc37 C T 13: 76,128,733 L479F probably benign Het
Ttll3 T C 6: 113,399,729 S357P probably benign Het
Vmn1r178 T A 7: 23,893,689 I54N probably damaging Het
Zdhhc2 T C 8: 40,467,419 probably benign Het
Other mutations in Olfr45
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Olfr45 APN 7 140691436 missense probably damaging 1.00
IGL01434:Olfr45 APN 7 140691618 missense probably damaging 1.00
IGL02167:Olfr45 APN 7 140691751 missense probably damaging 0.98
IGL02388:Olfr45 APN 7 140691111 missense probably benign 0.00
IGL03054:Olfr45 UTSW 7 140691710 missense probably benign 0.10
R0107:Olfr45 UTSW 7 140691345 missense probably benign
R0403:Olfr45 UTSW 7 140691309 missense possibly damaging 0.80
R1344:Olfr45 UTSW 7 140691799 missense probably damaging 0.98
R1859:Olfr45 UTSW 7 140691658 missense possibly damaging 0.80
R2871:Olfr45 UTSW 7 140691285 missense possibly damaging 0.95
R2871:Olfr45 UTSW 7 140691285 missense possibly damaging 0.95
R3611:Olfr45 UTSW 7 140691100 missense probably benign 0.01
R3915:Olfr45 UTSW 7 140690975 missense probably benign
R4551:Olfr45 UTSW 7 140691742 missense probably damaging 1.00
R4552:Olfr45 UTSW 7 140691742 missense probably damaging 1.00
R4627:Olfr45 UTSW 7 140691378 missense probably benign 0.00
R4628:Olfr45 UTSW 7 140691378 missense probably benign 0.00
R4629:Olfr45 UTSW 7 140691378 missense probably benign 0.00
R4990:Olfr45 UTSW 7 140691447 missense probably damaging 0.99
R5503:Olfr45 UTSW 7 140691396 missense probably benign 0.01
R7861:Olfr45 UTSW 7 140691571 missense probably damaging 1.00
R8077:Olfr45 UTSW 7 140691133 missense probably benign 0.16
R8268:Olfr45 UTSW 7 140691517 missense probably damaging 1.00
R8532:Olfr45 UTSW 7 140691799 missense probably damaging 0.98
Posted On2014-01-21