Incidental Mutation 'IGL03396:Olfr1450'
ID421242
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1450
Ensembl Gene ENSMUSG00000062892
Gene Nameolfactory receptor 1450
SynonymsMOR202-33, GA_x6K02T2RE5P-3283121-3284098
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.065) question?
Stock #IGL03396
Quality Score
Status
Chromosome19
Chromosomal Location12950258-12956406 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 12953820 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 77 (V77E)
Ref Sequence ENSEMBL: ENSMUSP00000150243 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082006] [ENSMUST00000213587] [ENSMUST00000213925]
Predicted Effect probably damaging
Transcript: ENSMUST00000082006
AA Change: V77E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000080666
Gene: ENSMUSG00000062892
AA Change: V77E

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 6.8e-52 PFAM
Pfam:7TM_GPCR_Srsx 35 305 2.5e-6 PFAM
Pfam:7tm_1 41 290 2.1e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213587
AA Change: V77E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000213925
AA Change: V77E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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
Acadvl G A 11: 70,011,413 R457* probably null Het
Arl5b C A 2: 15,075,104 T153K probably damaging Het
Arsb A T 13: 93,939,317 Y436F probably benign Het
Azgp1 C T 5: 137,985,183 P40L possibly damaging Het
B020004C17Rik A G 14: 57,016,536 T39A possibly damaging Het
Cacna2d3 G A 14: 29,720,877 Q67* probably null Het
Cdcp2 C A 4: 107,107,172 Y406* probably null Het
Cep89 T A 7: 35,429,178 D585E probably benign Het
Cfap65 A G 1: 74,904,642 F1570S probably damaging Het
Cnfn A G 7: 25,368,358 probably benign Het
Fgd6 G A 10: 94,044,456 V391I probably benign Het
Fra10ac1 C T 19: 38,201,546 probably null Het
Gjc1 T C 11: 102,800,527 K217E probably benign Het
Il20rb T C 9: 100,459,198 E285G probably damaging Het
Ints2 T C 11: 86,213,062 T1086A probably damaging Het
Itih4 A T 14: 30,887,949 I79F probably damaging Het
Jmjd6 A T 11: 116,841,251 L208H probably damaging Het
Lilr4b A G 10: 51,481,157 I30V possibly damaging Het
Limch1 A G 5: 66,953,673 N81S probably damaging Het
Mettl21e A T 1: 44,206,599 N162K possibly damaging Het
Ninl A G 2: 150,966,212 S299P possibly damaging Het
Obscn A G 11: 59,073,578 L3046P probably benign Het
Olfr342 C A 2: 36,527,680 S89R probably benign Het
Olfr780 A G 10: 129,322,047 I141M probably benign Het
Pnpla8 G A 12: 44,283,526 R287H probably benign Het
Pot1a A C 6: 25,745,914 I596R possibly damaging Het
Prkaa1 A G 15: 5,176,650 D329G probably damaging Het
Ptprr T G 10: 116,188,330 V182G probably damaging Het
Rrp1b T A 17: 32,057,263 probably benign Het
Sec24a A G 11: 51,708,967 V837A probably benign Het
Slc17a6 A G 7: 51,669,092 Y494C probably damaging Het
Slc38a10 A T 11: 120,128,475 I360N probably damaging Het
Snrpb2 T C 2: 143,071,457 F194L possibly damaging Het
Tcam1 A G 11: 106,285,386 I313V probably benign Het
Trpv1 A G 11: 73,253,056 N238S probably benign Het
Usp20 T C 2: 31,011,717 V498A probably benign Het
Vmn2r23 T C 6: 123,729,626 S472P probably damaging Het
Vmn2r98 A T 17: 19,069,845 T548S possibly damaging Het
Zfp429 A T 13: 67,396,040 probably benign Het
Other mutations in Olfr1450
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01978:Olfr1450 APN 19 12954042 missense probably benign 0.00
IGL02378:Olfr1450 APN 19 12954383 missense probably benign 0.01
IGL02405:Olfr1450 APN 19 12954459 missense probably damaging 1.00
IGL02493:Olfr1450 APN 19 12953774 missense probably benign 0.12
IGL02496:Olfr1450 APN 19 12954192 missense possibly damaging 0.86
IGL02866:Olfr1450 APN 19 12954355 missense possibly damaging 0.81
IGL02886:Olfr1450 APN 19 12954518 missense probably benign 0.00
IGL03223:Olfr1450 APN 19 12953904 missense probably benign 0.00
IGL03286:Olfr1450 APN 19 12954168 missense probably benign 0.05
R0106:Olfr1450 UTSW 19 12954356 missense probably benign 0.10
R0106:Olfr1450 UTSW 19 12954356 missense probably benign 0.10
R0544:Olfr1450 UTSW 19 12953702 missense possibly damaging 0.79
R1660:Olfr1450 UTSW 19 12953691 missense probably damaging 1.00
R2020:Olfr1450 UTSW 19 12954332 missense possibly damaging 0.61
R4292:Olfr1450 UTSW 19 12954156 missense possibly damaging 0.83
R4647:Olfr1450 UTSW 19 12954077 missense probably benign 0.00
R5964:Olfr1450 UTSW 19 12954531 missense probably benign 0.03
R6398:Olfr1450 UTSW 19 12954317 missense probably damaging 1.00
R6681:Olfr1450 UTSW 19 12954459 missense probably damaging 1.00
R7129:Olfr1450 UTSW 19 12954114 missense possibly damaging 0.94
R7399:Olfr1450 UTSW 19 12954447 missense probably damaging 1.00
R7561:Olfr1450 UTSW 19 12954039 missense probably benign 0.00
R7692:Olfr1450 UTSW 19 12953642 missense possibly damaging 0.59
Posted On2016-08-02