Incidental Mutation 'IGL03268:Olfr594'
ID415169
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: 0.061) question?
Stock #IGL03268
Quality Score
Status
Chromosome7
Chromosomal Location103216996-103222313 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 103220641 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Valine at position 308 (F308V)
Ref Sequence ENSEMBL: ENSMUSP00000095806 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098205] [ENSMUST00000214051]
Predicted Effect probably benign
Transcript: ENSMUST00000098205
AA Change: F308V

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000095806
Gene: ENSMUSG00000073954
AA Change: F308V

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 benign
Transcript: ENSMUST00000214051
AA Change: F308V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500002C15Rik G T 4: 155,734,191 probably benign Het
Acvrl1 A T 15: 101,135,922 I162F possibly damaging Het
Adprhl1 A G 8: 13,246,170 probably benign Het
Anapc7 G A 5: 122,429,606 probably null Het
Ankrd13a T C 5: 114,792,235 L227P probably damaging Het
Anxa5 T C 3: 36,450,679 I245V probably benign Het
Arf1 A T 11: 59,212,837 V123E possibly damaging Het
Catsperg1 G A 7: 29,200,243 R338C probably damaging Het
Cc2d1a A C 8: 84,133,525 L855R probably damaging Het
Cdh18 G A 15: 23,366,867 A220T probably damaging Het
Cep350 T C 1: 155,953,549 H203R probably benign Het
Cep78 G T 19: 15,974,442 S333* probably null Het
Chrna2 T A 14: 66,150,946 probably benign Het
Dact1 T C 12: 71,317,483 V346A probably damaging Het
Dcn A G 10: 97,483,378 I6V probably benign Het
Dlg3 A G X: 100,809,887 Y600C probably damaging Het
Dmd A G X: 83,806,208 E1084G probably damaging Het
Epb41 A C 4: 131,928,495 D825E probably damaging Het
Galc T A 12: 98,222,593 probably benign Het
Hmcn1 T A 1: 150,772,510 D675V probably damaging Het
Igkv2-137 A G 6: 67,556,108 D85G probably benign Het
Kxd1 A G 8: 70,508,486 I78T probably damaging Het
Lama1 G A 17: 67,804,536 G2261R probably damaging Het
Lama2 A T 10: 27,422,653 I149N probably damaging Het
Mbnl2 G T 14: 120,379,157 C61F probably damaging Het
Mcts1 T C X: 38,601,982 I22T possibly damaging Het
Olfr725 T C 14: 50,034,567 T279A probably damaging Het
Pde12 T A 14: 26,668,459 E365V probably benign Het
Prl8a2 A G 13: 27,353,955 K204R probably benign Het
Rnf25 A T 1: 74,599,058 probably benign Het
Rragb A G X: 153,140,497 D5G unknown Het
Rsrc2 T A 5: 123,740,727 K56* probably null Het
Scn5a T C 9: 119,521,231 Q859R probably damaging Het
Sept4 G A 11: 87,589,703 V388M probably damaging Het
Slc29a2 C T 19: 5,024,503 probably benign Het
Slc30a5 G A 13: 100,806,703 T549I probably damaging Het
Slc7a2 A G 8: 40,912,517 T462A probably benign Het
Spsb2 A G 6: 124,809,487 E61G probably damaging Het
Srr A G 11: 74,913,117 Y5H probably benign Het
Suclg2 T C 6: 95,569,592 D301G probably damaging Het
Syt14 A G 1: 192,986,834 V37A probably benign Het
Syt9 A G 7: 107,436,405 N210D probably benign Het
Tenm3 T C 8: 48,235,523 D2343G probably damaging Het
Tma7 A G 9: 109,078,382 probably benign Het
Tor3a T C 1: 156,669,450 D175G probably damaging Het
Tpo G T 12: 30,094,965 A595D possibly damaging Het
Tpst2 T C 5: 112,308,225 V210A probably damaging Het
Uchl1 A T 5: 66,682,481 E122V probably benign Het
Vmn1r210 A T 13: 22,827,235 F294I probably benign Het
Other mutations in Olfr594
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01595:Olfr594 APN 7 103220351 missense probably damaging 1.00
IGL02732:Olfr594 APN 7 103220240 missense probably benign 0.01
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
R8393:Olfr594 UTSW 7 103220192 missense probably benign 0.07
R8809:Olfr594 UTSW 7 103220239 missense probably benign
Posted On2016-08-02