Incidental Mutation 'IGL01392:Olfr1443'
ID79244
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1443
Ensembl Gene ENSMUSG00000045030
Gene Nameolfactory receptor 1443
SynonymsMOR202-8, GA_x6K02T2RE5P-3006492-3007430
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.057) question?
Stock #IGL01392
Quality Score
Status
Chromosome19
Chromosomal Location12678112-12683851 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 12680803 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 232 (Y232N)
Ref Sequence ENSEMBL: ENSMUSP00000150063 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049724] [ENSMUST00000207341] [ENSMUST00000208494] [ENSMUST00000208657] [ENSMUST00000213486] [ENSMUST00000215134]
Predicted Effect probably benign
Transcript: ENSMUST00000049724
AA Change: Y232N

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000059886
Gene: ENSMUSG00000045030
AA Change: Y232N

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 2.4e-50 PFAM
Pfam:7TM_GPCR_Srsx 33 303 1.5e-6 PFAM
Pfam:7tm_1 39 288 8.6e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207341
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208407
Predicted Effect probably benign
Transcript: ENSMUST00000208494
Predicted Effect probably benign
Transcript: ENSMUST00000208657
Predicted Effect probably benign
Transcript: ENSMUST00000213486
AA Change: Y232N

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000215134
AA Change: Y232N

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1 A G 2: 58,500,546 V2A probably benign Het
Adgrf5 A T 17: 43,450,012 Q866L probably benign Het
Ankrd13a A G 5: 114,797,853 E295G probably benign Het
Arid1a T C 4: 133,681,037 D2053G unknown Het
Calr4 A G 4: 109,253,874 E272G probably benign Het
Cmya5 T C 13: 93,089,206 S3125G probably damaging Het
Dnah7b T C 1: 46,126,788 Y538H probably damaging Het
Eri3 T C 4: 117,589,159 probably null Het
Fmo6 T A 1: 162,930,011 R63* probably null Het
Gm7168 G A 17: 13,948,907 D179N probably benign Het
Gm8979 T C 7: 106,083,755 I98V probably benign Het
Got1l1 T C 8: 27,197,991 T337A probably damaging Het
Igf2r A G 17: 12,704,349 M1191T probably benign Het
Ighv1-54 A G 12: 115,193,937 L30P probably damaging Het
Igkv8-30 A G 6: 70,117,347 S27P probably benign Het
Kcnab2 A T 4: 152,393,797 V335E possibly damaging Het
Klf12 A T 14: 100,149,757 I3N probably damaging Het
Megf8 T C 7: 25,363,749 V2510A probably benign Het
Mme A G 3: 63,362,046 D592G probably damaging Het
Myh1 A G 11: 67,221,301 N1727S probably benign Het
Ncor1 A G 11: 62,340,594 S796P probably damaging Het
Nlrp14 A G 7: 107,197,913 probably benign Het
Olfr508 C T 7: 108,630,678 R229C probably benign Het
Olfr564 T A 7: 102,803,854 Y125* probably null Het
Plekhm2 A G 4: 141,642,426 V86A probably damaging Het
Popdc2 G T 16: 38,374,131 V305L probably benign Het
Prpmp5 T C 6: 132,312,420 N147S unknown Het
Rttn C T 18: 88,995,613 H469Y probably benign Het
Slc2a12 T C 10: 22,664,684 V146A probably damaging Het
Sptlc3 A G 2: 139,546,421 E111G possibly damaging Het
Zfp108 T C 7: 24,258,447 probably benign Het
Zfp719 T A 7: 43,591,130 F714Y probably damaging Het
Other mutations in Olfr1443
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01322:Olfr1443 APN 19 12680749 missense probably benign 0.02
IGL01470:Olfr1443 APN 19 12680671 missense possibly damaging 0.91
IGL03106:Olfr1443 APN 19 12680923 missense possibly damaging 0.61
R2036:Olfr1443 UTSW 19 12680801 missense probably damaging 1.00
R3942:Olfr1443 UTSW 19 12680404 missense probably benign 0.03
R5459:Olfr1443 UTSW 19 12680435 missense probably damaging 1.00
R5643:Olfr1443 UTSW 19 12680972 missense probably damaging 1.00
R5644:Olfr1443 UTSW 19 12680972 missense probably damaging 1.00
R6879:Olfr1443 UTSW 19 12680771 missense probably benign 0.18
R6991:Olfr1443 UTSW 19 12680748 missense probably benign 0.14
R7084:Olfr1443 UTSW 19 12680834 missense probably damaging 0.98
R7352:Olfr1443 UTSW 19 12680751 missense possibly damaging 0.78
R7749:Olfr1443 UTSW 19 12680212 missense probably benign 0.10
Posted On2013-11-05