Incidental Mutation 'IGL02732:Olfr594'
ID305493
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: 0.072) question?
Stock #IGL02732
Quality Score
Status
Chromosome7
Chromosomal Location103216996-103222313 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 103220240 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Threonine at position 174 (N174T)
Ref Sequence ENSEMBL: ENSMUSP00000095806 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098205] [ENSMUST00000214051]
Predicted Effect probably benign
Transcript: ENSMUST00000098205
AA Change: N174T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000095806
Gene: ENSMUSG00000073954
AA Change: N174T

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: N174T

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700007K13Rik T C 2: 28,465,180 N91S probably damaging Het
2410089E03Rik A G 15: 8,179,891 T271A probably benign Het
9230110F15Rik C T 9: 35,839,049 G109D probably damaging Het
Apoo-ps C A 13: 107,414,623 noncoding transcript Het
Ash1l T A 3: 88,966,228 V106E probably damaging Het
Baz2a A G 10: 128,125,175 T1618A possibly damaging Het
Brca1 A G 11: 101,492,219 S1732P probably benign Het
Cdh1 T A 8: 106,666,323 I813N probably damaging Het
Cdk5rap2 G A 4: 70,266,665 R1183* probably null Het
Cep170 C T 1: 176,736,874 E1479K probably damaging Het
Cep68 A T 11: 20,236,109 probably benign Het
Cog7 C T 7: 121,923,367 V750I probably benign Het
Cyb5d1 A C 11: 69,393,809 probably null Het
Dlgap4 A G 2: 156,749,323 K120E probably benign Het
Dmtf1 T C 5: 9,136,098 I75V possibly damaging Het
Fam103a1 T C 7: 81,767,725 probably null Het
Fam208b A G 13: 3,573,626 V2108A probably benign Het
Fnip2 T C 3: 79,465,697 T995A probably damaging Het
Hecw2 G A 1: 53,926,688 probably benign Het
Il17rd T A 14: 27,087,419 F111I probably damaging Het
Itgb8 A C 12: 119,163,353 M722R probably benign Het
Maip1 A G 1: 57,409,955 D165G probably damaging Het
Mcm6 A T 1: 128,359,490 C26S probably benign Het
Mdp1 T C 14: 55,659,221 I128V possibly damaging Het
Myof A T 19: 37,977,716 F385L possibly damaging Het
Nebl C T 2: 17,452,484 probably benign Het
Nusap1 A G 2: 119,635,580 E227G probably damaging Het
Olfr142 A G 2: 90,252,308 S227P probably damaging Het
Olfr631 T G 7: 103,929,129 M102R probably damaging Het
Pamr1 A T 2: 102,642,141 H595L probably benign Het
Pdgfc G A 3: 81,037,557 probably benign Het
Ptpn22 A T 3: 103,886,033 E500V probably damaging Het
Ptprg G T 14: 12,225,617 probably null Het
R3hdm2 T C 10: 127,484,060 F513L probably benign Het
Rhobtb3 C A 13: 75,910,937 L247F probably damaging Het
Scfd1 T C 12: 51,422,973 S434P probably benign Het
Serpinb3d T A 1: 107,082,796 probably null Het
Sin3b T C 8: 72,733,453 F223L possibly damaging Het
Slc9c1 T C 16: 45,550,185 V263A possibly damaging Het
Sntb1 A G 15: 55,792,200 S207P possibly damaging Het
Sqor A T 2: 122,799,762 T1S possibly damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Ssh2 A G 11: 77,437,776 probably null Het
Tmod2 A G 9: 75,586,172 V167A possibly damaging Het
Trak2 G A 1: 58,910,063 T526M probably benign Het
Trdn G A 10: 33,468,199 probably null Het
Trim5 T A 7: 104,278,465 E156V probably benign Het
Twf1 A G 15: 94,581,009 S273P probably damaging Het
Xylt1 T C 7: 117,591,937 V320A possibly damaging Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Other mutations in Olfr594
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01595:Olfr594 APN 7 103220351 missense probably damaging 1.00
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 On2015-04-16