Incidental Mutation 'IGL03063:Olfr593'
ID409532
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr593
Ensembl Gene ENSMUSG00000073955
Gene Nameolfactory receptor 593
SynonymsGA_x6K02T2PBJ9-5927412-5928362, MOR24-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock #IGL03063
Quality Score
Status
Chromosome7
Chromosomal Location103211862-103212845 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 103212634 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 247 (V247D)
Ref Sequence ENSEMBL: ENSMUSP00000147588 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098206] [ENSMUST00000210686] [ENSMUST00000214051]
Predicted Effect probably damaging
Transcript: ENSMUST00000098206
AA Change: V258D

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000095807
Gene: ENSMUSG00000073955
AA Change: V258D

DomainStartEndE-ValueType
Pfam:7tm_4 44 323 4.9e-106 PFAM
Pfam:7TM_GPCR_Srsx 48 320 2.6e-8 PFAM
Pfam:7tm_1 54 305 6.8e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000210686
AA Change: V247D

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000214051
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 C T 7: 46,016,432 V255I probably benign Het
Arfgef2 T C 2: 166,859,782 probably benign Het
Bpifb2 A T 2: 153,889,124 Q205L probably damaging Het
Ccdc30 C T 4: 119,349,767 R386Q possibly damaging Het
Cdk5rap2 T A 4: 70,354,877 probably null Het
Comtd1 A G 14: 21,847,667 probably null Het
Dao T C 5: 114,021,015 C261R probably damaging Het
Dner A G 1: 84,585,338 V187A possibly damaging Het
Dsg3 T C 18: 20,533,368 probably benign Het
Eif3j2 A G 18: 43,477,379 L123P possibly damaging Het
Esf1 G A 2: 140,154,786 probably benign Het
Exo5 G A 4: 120,921,633 T345I possibly damaging Het
Fancl A T 11: 26,387,299 I29F probably damaging Het
Gadl1 C T 9: 115,966,267 H313Y probably damaging Het
Gm17190 G A 13: 96,082,762 probably benign Het
Gtf3c1 G T 7: 125,646,503 T1580N possibly damaging Het
Gtf3c6 T A 10: 40,251,159 I66L probably benign Het
Hhla1 A G 15: 65,941,790 I231T probably damaging Het
Hk2 A G 6: 82,739,649 Y273H probably damaging Het
Hk2 A G 6: 82,749,232 I83T probably benign Het
Ifit1 T C 19: 34,648,004 V180A possibly damaging Het
Igkv9-129 A T 6: 67,840,188 D92V probably damaging Het
Lrrc1 A G 9: 77,499,269 F36S probably damaging Het
Man1b1 A G 2: 25,334,404 E102G possibly damaging Het
Myh8 A G 11: 67,288,205 S475G probably benign Het
Otud4 T A 8: 79,663,790 M343K probably benign Het
Peg10 A T 6: 4,756,647 probably benign Het
Plet1 T A 9: 50,504,422 N197K probably benign Het
Ppp1r12a C T 10: 108,261,254 R243C probably damaging Het
Serpinb10 A T 1: 107,542,227 K146N possibly damaging Het
Sis A G 3: 72,928,297 F911L probably benign Het
Spon1 G A 7: 114,033,025 V528M possibly damaging Het
Tdrd9 T C 12: 112,044,299 V1100A probably benign Het
Tmtc3 T C 10: 100,447,606 M696V probably benign Het
Triobp A G 15: 78,990,884 E122G probably damaging Het
Wt1 G A 2: 105,170,023 probably null Het
Other mutations in Olfr593
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00929:Olfr593 APN 7 103212685 missense probably damaging 1.00
IGL01636:Olfr593 APN 7 103212177 missense probably benign
IGL01637:Olfr593 APN 7 103212177 missense probably benign
IGL02115:Olfr593 APN 7 103212474 missense probably damaging 1.00
IGL02668:Olfr593 APN 7 103212735 missense possibly damaging 0.88
IGL03070:Olfr593 APN 7 103212697 missense probably benign 0.02
IGL03114:Olfr593 APN 7 103212721 missense probably damaging 1.00
R0144:Olfr593 UTSW 7 103212540 missense probably damaging 1.00
R0238:Olfr593 UTSW 7 103212726 missense possibly damaging 0.93
R0238:Olfr593 UTSW 7 103212726 missense possibly damaging 0.93
R0239:Olfr593 UTSW 7 103212726 missense possibly damaging 0.93
R0239:Olfr593 UTSW 7 103212726 missense possibly damaging 0.93
R0309:Olfr593 UTSW 7 103212721 missense probably damaging 1.00
R0602:Olfr593 UTSW 7 103212580 missense possibly damaging 0.76
R0677:Olfr593 UTSW 7 103212798 nonsense probably null
R0783:Olfr593 UTSW 7 103212670 missense probably damaging 1.00
R1829:Olfr593 UTSW 7 103211886 missense probably benign 0.01
R3840:Olfr593 UTSW 7 103212693 missense probably damaging 1.00
R3841:Olfr593 UTSW 7 103212693 missense probably damaging 1.00
R4449:Olfr593 UTSW 7 103212480 missense probably benign 0.00
R4898:Olfr593 UTSW 7 103212540 missense probably damaging 1.00
R5197:Olfr593 UTSW 7 103212000 missense probably benign 0.02
R5285:Olfr593 UTSW 7 103212798 nonsense probably null
R6548:Olfr593 UTSW 7 103211904 missense probably benign 0.08
R7353:Olfr593 UTSW 7 103212309 missense probably damaging 1.00
R7362:Olfr593 UTSW 7 103212654 missense probably damaging 1.00
R7663:Olfr593 UTSW 7 103212445 missense possibly damaging 0.74
R7799:Olfr593 UTSW 7 103211979 missense probably benign 0.33
X0067:Olfr593 UTSW 7 103212048 missense possibly damaging 0.82
Posted On2016-08-02