Incidental Mutation 'IGL03215:Olfr193'
ID413439
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr193
Ensembl Gene ENSMUSG00000060057
Gene Nameolfactory receptor 193
SynonymsOlfr1540-ps1, MOR183-7P, GA_x54KRFPKG5P-55338697-55337768, MOR113-7P, MOR113-7P
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.057) question?
Stock #IGL03215
Quality Score
Status
Chromosome16
Chromosomal Location59107924-59111881 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 59109962 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 216 (V216D)
Ref Sequence ENSEMBL: ENSMUSP00000146393 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076262] [ENSMUST00000207935] [ENSMUST00000208455]
Predicted Effect possibly damaging
Transcript: ENSMUST00000076262
AA Change: V216D

PolyPhen 2 Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000075611
Gene: ENSMUSG00000060057
AA Change: V216D

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 2.3e-48 PFAM
Pfam:7tm_1 41 290 5.4e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207935
Predicted Effect possibly damaging
Transcript: ENSMUST00000208455
AA Change: V216D

PolyPhen 2 Score 0.460 (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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd3 C T 1: 180,745,105 A310V possibly damaging Het
Acmsd C A 1: 127,758,013 S197* probably null Het
Adgrg4 A T X: 56,977,596 N2761I probably damaging Het
Amy1 G A 3: 113,556,000 A507V probably benign Het
Apob T C 12: 8,013,818 F316S possibly damaging Het
Arhgap10 T C 8: 77,277,152 T675A probably benign Het
Bbx A G 16: 50,202,572 I675T probably damaging Het
Cep126 C A 9: 8,100,530 E668* probably null Het
Cnga2 A G X: 72,009,166 D549G probably damaging Het
Dnah1 T A 14: 31,274,391 I2663F probably damaging Het
Fmo5 A G 3: 97,641,806 M257V probably benign Het
Galntl6 T C 8: 58,911,402 I25V probably benign Het
Il17ra A G 6: 120,472,114 N54S probably damaging Het
Mthfd1l A T 10: 4,041,826 T593S probably benign Het
Olfr1019 A T 2: 85,841,381 S137T probably damaging Het
Olfr1123 G A 2: 87,418,068 V7I probably benign Het
Olfr390 G T 11: 73,787,385 W149L probably damaging Het
Rnasel T A 1: 153,758,555 L578Q probably damaging Het
Serpinb1a A G 13: 32,850,369 L13S probably damaging Het
Slf1 G A 13: 77,049,977 P726L probably benign Het
Spta1 T C 1: 174,218,743 M1630T probably damaging Het
Stk16 T C 1: 75,212,592 probably benign Het
Tnxb T C 17: 34,692,525 F1724L possibly damaging Het
Vmn1r58 T C 7: 5,410,836 I132V probably benign Het
Zbtb41 T C 1: 139,446,950 I716T probably damaging Het
Other mutations in Olfr193
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00335:Olfr193 APN 16 59110598 missense probably benign
IGL01613:Olfr193 APN 16 59109921 missense probably damaging 1.00
IGL02280:Olfr193 APN 16 59110332 missense probably damaging 1.00
IGL02533:Olfr193 APN 16 59109684 missense probably benign
IGL02544:Olfr193 APN 16 59110144 missense probably damaging 1.00
IGL02576:Olfr193 APN 16 59109771 missense probably benign
IGL02719:Olfr193 APN 16 59110173 missense probably benign 0.01
IGL03272:Olfr193 APN 16 59110556 missense probably benign 0.01
PIT4802001:Olfr193 UTSW 16 59110601 missense probably benign
R0544:Olfr193 UTSW 16 59110225 missense probably benign 0.03
R0783:Olfr193 UTSW 16 59110169 nonsense probably null
R1070:Olfr193 UTSW 16 59109819 missense probably benign 0.08
R1211:Olfr193 UTSW 16 59110160 missense possibly damaging 0.68
R1662:Olfr193 UTSW 16 59110604 missense probably benign 0.00
R1754:Olfr193 UTSW 16 59110581 missense probably benign 0.03
R1765:Olfr193 UTSW 16 59109755 missense probably damaging 1.00
R1937:Olfr193 UTSW 16 59109794 missense probably benign 0.11
R2875:Olfr193 UTSW 16 59109802 missense probably benign 0.01
R2910:Olfr193 UTSW 16 59110181 missense probably benign 0.00
R2911:Olfr193 UTSW 16 59110181 missense probably benign 0.00
R5084:Olfr193 UTSW 16 59110073 missense possibly damaging 0.90
R5700:Olfr193 UTSW 16 59109993 missense probably damaging 0.99
R7018:Olfr193 UTSW 16 59110607 start codon destroyed probably null 0.98
R7083:Olfr193 UTSW 16 59110037 missense probably damaging 1.00
R7572:Olfr193 UTSW 16 59110430 missense probably damaging 1.00
R7720:Olfr193 UTSW 16 59109771 missense probably benign
R8045:Olfr193 UTSW 16 59110039 missense probably benign 0.01
Posted On2016-08-02