Incidental Mutation 'IGL01969:Olfr1447'
ID181613
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1447
Ensembl Gene ENSMUSG00000060303
Gene Nameolfactory receptor 1447
SynonymsGA_x6K02T2RE5P-3231251-3230331, MOR202-3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.071) question?
Stock #IGL01969
Quality Score
Status
Chromosome19
Chromosomal Location12899434-12903743 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 12901052 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Serine at position 243 (A243S)
Ref Sequence ENSEMBL: ENSMUSP00000149392 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071484] [ENSMUST00000208343] [ENSMUST00000216989]
Predicted Effect possibly damaging
Transcript: ENSMUST00000071484
AA Change: A243S

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000071419
Gene: ENSMUSG00000060303
AA Change: A243S

DomainStartEndE-ValueType
Pfam:7tm_4 32 309 5.3e-50 PFAM
Pfam:7TM_GPCR_Srsx 36 306 2.1e-7 PFAM
Pfam:7tm_1 42 291 7.4e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000208343
Predicted Effect possibly damaging
Transcript: ENSMUST00000216989
AA Change: A243S

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218013
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220222
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
Afg3l1 C A 8: 123,480,431 P74H probably damaging Het
Aire T A 10: 78,042,982 D77V probably damaging Het
Ank2 T A 3: 126,953,223 H571L possibly damaging Het
Apol10b T C 15: 77,588,685 probably null Het
Cacna2d2 A T 9: 107,509,216 M181L probably benign Het
Ccnl1 T C 3: 65,948,487 probably benign Het
Chd9 A G 8: 91,033,510 E1961G possibly damaging Het
Dnajc12 C A 10: 63,395,830 H42N probably damaging Het
Eml4 T C 17: 83,445,980 V248A possibly damaging Het
Epha10 A C 4: 124,885,877 K172T probably damaging Het
Fat1 T C 8: 44,952,599 Y796H probably damaging Het
Gpr176 A C 2: 118,279,637 F380L probably damaging Het
Guca1a A T 17: 47,400,343 M26K probably damaging Het
Gucy2g T G 19: 55,227,438 M501L probably benign Het
Herc2 T C 7: 56,185,831 probably benign Het
Itgav A G 2: 83,803,283 E1028G probably damaging Het
Itpr1 A G 6: 108,377,691 T179A probably damaging Het
Lpin2 A G 17: 71,231,507 T383A probably benign Het
Midn A G 10: 80,155,259 T325A probably benign Het
Mpdz A G 4: 81,358,724 Y788H probably damaging Het
Muc1 A T 3: 89,232,006 D571V probably damaging Het
Myo3a A T 2: 22,297,688 H316L probably benign Het
Nagpa T C 16: 5,195,889 K362E probably benign Het
Ola1 G A 2: 73,100,146 A266V probably benign Het
Olfr1256 A G 2: 89,835,720 I75T probably benign Het
Olfr393 T C 11: 73,847,609 N172S possibly damaging Het
Otof A G 5: 30,382,483 probably benign Het
Pi4ka A C 16: 17,378,483 V105G probably benign Het
Plppr4 G T 3: 117,328,359 T190K probably damaging Het
Pnpla3 G A 15: 84,179,224 A268T probably benign Het
Ppp6r2 C T 15: 89,275,510 H467Y probably damaging Het
Prkd2 C T 7: 16,865,757 T715M probably damaging Het
Rusc2 A G 4: 43,415,738 N348S probably benign Het
Ska3 A G 14: 57,811,662 V284A probably benign Het
Slc23a1 A T 18: 35,624,754 V199D possibly damaging Het
Slc6a13 T C 6: 121,335,642 L445P probably damaging Het
Smo A T 6: 29,755,172 probably null Het
Tmem131 A G 1: 36,825,460 L564S possibly damaging Het
Ttc23l G A 15: 10,551,434 Q69* probably null Het
Other mutations in Olfr1447
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00944:Olfr1447 APN 19 12901355 missense probably benign 0.40
IGL01704:Olfr1447 APN 19 12901739 missense probably benign 0.01
IGL01767:Olfr1447 APN 19 12901748 missense probably benign 0.12
IGL02435:Olfr1447 APN 19 12901027 missense probably damaging 1.00
IGL02666:Olfr1447 APN 19 12900857 missense probably benign
IGL03034:Olfr1447 APN 19 12901757 missense possibly damaging 0.94
IGL03221:Olfr1447 APN 19 12901541 missense probably damaging 1.00
R0315:Olfr1447 UTSW 19 12901234 missense possibly damaging 0.66
R0550:Olfr1447 UTSW 19 12901800 splice site probably null
R0729:Olfr1447 UTSW 19 12900895 missense probably damaging 0.97
R1381:Olfr1447 UTSW 19 12900956 missense probably benign 0.00
R1669:Olfr1447 UTSW 19 12901288 missense possibly damaging 0.79
R1775:Olfr1447 UTSW 19 12901235 missense probably benign 0.02
R1918:Olfr1447 UTSW 19 12900851 makesense probably null
R2377:Olfr1447 UTSW 19 12900853 missense possibly damaging 0.45
R2406:Olfr1447 UTSW 19 12901627 missense probably benign 0.11
R2471:Olfr1447 UTSW 19 12901315 missense probably benign 0.00
R2484:Olfr1447 UTSW 19 12901641 missense probably benign 0.06
R2656:Olfr1447 UTSW 19 12901666 missense probably benign 0.37
R3888:Olfr1447 UTSW 19 12901133 missense probably benign 0.00
R4250:Olfr1447 UTSW 19 12901004 missense probably benign 0.09
R4545:Olfr1447 UTSW 19 12901268 nonsense probably null
R4895:Olfr1447 UTSW 19 12900887 missense probably damaging 1.00
R4956:Olfr1447 UTSW 19 12901599 missense probably damaging 0.99
R4991:Olfr1447 UTSW 19 12901451 missense probably damaging 0.98
R5044:Olfr1447 UTSW 19 12901001 missense probably damaging 1.00
R5165:Olfr1447 UTSW 19 12901200 missense probably benign 0.00
R6025:Olfr1447 UTSW 19 12901670 missense probably benign 0.10
R6135:Olfr1447 UTSW 19 12901439 missense probably damaging 0.97
R6459:Olfr1447 UTSW 19 12901005 missense possibly damaging 0.94
R6733:Olfr1447 UTSW 19 12901241 missense probably damaging 1.00
R6789:Olfr1447 UTSW 19 12901289 missense probably benign 0.21
R6923:Olfr1447 UTSW 19 12901312 missense probably benign 0.04
R7310:Olfr1447 UTSW 19 12901273 missense probably damaging 1.00
Posted On2014-05-07