Incidental Mutation 'IGL01595:Olfr594'
ID93369
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr594
Ensembl Gene ENSMUSG00000073954
Gene Nameolfactory receptor 594
SynonymsGA_x6K02T2PBJ9-5935234-5936169, MOR32-10
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.068) question?
Stock #IGL01595
Quality Score
Status
Chromosome7
Chromosomal Location103216996-103222313 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 103220351 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 211 (D211G)
Ref Sequence ENSEMBL: ENSMUSP00000149847 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098205] [ENSMUST00000214051]
Predicted Effect possibly damaging
Transcript: ENSMUST00000098205
AA Change: D211G

PolyPhen 2 Score 0.506 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000095806
Gene: ENSMUSG00000073954
AA Change: D211G

DomainStartEndE-ValueType
Pfam:7tm_4 33 311 2.6e-130 PFAM
Pfam:7TM_GPCR_Srsx 37 284 4.6e-6 PFAM
Pfam:7tm_1 43 293 3.2e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214051
AA Change: D211G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd5 A G 2: 23,078,169 M111V probably damaging Het
Adamts14 A T 10: 61,205,473 H819Q probably damaging Het
Adamts7 T A 9: 90,193,306 N1072K probably benign Het
Ahnak T A 19: 9,003,501 Y716* probably null Het
Arfgef3 T C 10: 18,594,912 K1702E possibly damaging Het
BB014433 C A 8: 15,042,499 probably null Het
Bdnf A T 2: 109,723,928 K176* probably null Het
C2cd5 C T 6: 143,018,022 R879H probably damaging Het
Capn11 T A 17: 45,639,434 H327L probably benign Het
Ccdc68 A G 18: 69,956,046 N220S probably benign Het
Cftr T C 6: 18,198,239 probably benign Het
Clca2 G A 3: 145,088,007 L296F probably damaging Het
Cubn A T 2: 13,325,216 L2618Q probably benign Het
Gfi1b A G 2: 28,611,417 probably null Het
Gpr37 G T 6: 25,669,573 T424N probably damaging Het
Kank3 G A 17: 33,819,180 probably null Het
Kcnh5 T C 12: 74,898,327 Q716R probably benign Het
Kntc1 G A 5: 123,803,695 M1817I probably benign Het
Krt79 T G 15: 101,931,771 E330A probably damaging Het
Mapk15 C A 15: 75,995,280 P82Q probably benign Het
Myh15 A T 16: 49,172,949 D1649V probably damaging Het
Myo1d T C 11: 80,676,110 I326V probably benign Het
Nek9 A T 12: 85,314,420 W504R probably damaging Het
Nlrp4c T A 7: 6,066,112 C337* probably null Het
Nup160 A G 2: 90,729,737 N1269D probably damaging Het
Olfr250 T C 9: 38,368,050 V168A probably benign Het
Olfr661 T C 7: 104,688,078 M21T possibly damaging Het
Pde6a A G 18: 61,281,528 M36V probably damaging Het
Perp A G 10: 18,855,659 Q122R probably damaging Het
S100a7a T C 3: 90,657,800 Y101H probably benign Het
Sbk2 C A 7: 4,957,713 V153L possibly damaging Het
Serpinb7 A T 1: 107,428,322 N25I probably damaging Het
Tbx5 A T 5: 119,840,838 D105V probably damaging Het
Trip6 T A 5: 137,313,413 T101S probably benign Het
Ush2a T A 1: 188,654,724 probably null Het
Other mutations in Olfr594
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02732:Olfr594 APN 7 103220240 missense probably benign 0.01
IGL03268:Olfr594 APN 7 103220641 missense probably benign 0.09
R0008:Olfr594 UTSW 7 103220351 missense probably damaging 1.00
R0008:Olfr594 UTSW 7 103220377 missense probably benign 0.00
R1056:Olfr594 UTSW 7 103220418 missense probably benign 0.01
R1300:Olfr594 UTSW 7 103220117 missense probably benign 0.10
R1961:Olfr594 UTSW 7 103219997 missense probably benign
R2029:Olfr594 UTSW 7 103219760 missense probably damaging 0.97
R2380:Olfr594 UTSW 7 103220608 missense possibly damaging 0.93
R4616:Olfr594 UTSW 7 103220422 nonsense probably null
R7361:Olfr594 UTSW 7 103220623 missense possibly damaging 0.96
R7366:Olfr594 UTSW 7 103220533 missense probably benign 0.02
R7539:Olfr594 UTSW 7 103220066 missense possibly damaging 0.93
R7593:Olfr594 UTSW 7 103220264 missense probably damaging 1.00
Posted On2013-12-09