Incidental Mutation 'IGL02726:Olfr393'
ID305198
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr393
Ensembl Gene ENSMUSG00000094488
Gene Nameolfactory receptor 393
SynonymsGA_x6K02T2P1NL-4004140-4003208, MOR135-7
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.160) question?
Stock #IGL02726
Quality Score
Status
Chromosome11
Chromosomal Location73844413-73851454 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 73847865 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 87 (S87G)
Ref Sequence ENSEMBL: ENSMUSP00000150031 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102523] [ENSMUST00000213365]
Predicted Effect probably benign
Transcript: ENSMUST00000102523
AA Change: S87G

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000099582
Gene: ENSMUSG00000094488
AA Change: S87G

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 9.5e-57 PFAM
Pfam:7TM_GPCR_Srsx 35 305 2.3e-7 PFAM
Pfam:7tm_1 41 290 4.8e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213365
AA Change: S87G

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933417A18Rik A G 13: 34,952,960 probably benign Het
Anapc1 A T 2: 128,659,785 M779K probably benign Het
Art1 G A 7: 102,110,748 V85M probably damaging Het
Atad2b G T 12: 4,974,003 E43* probably null Het
Clec4a4 A T 6: 122,990,379 I5F probably damaging Het
Cr1l A T 1: 195,129,880 I45N probably damaging Het
Dmbt1 T A 7: 131,074,410 probably benign Het
Dnajb3 A T 1: 88,205,650 V10E probably damaging Het
Dnajc22 A T 15: 99,101,000 H22L probably damaging Het
Dnal4 A G 15: 79,763,544 V40A probably damaging Het
Dsg1b G A 18: 20,399,485 V529I probably benign Het
Fam131c T A 4: 141,382,802 D170E probably benign Het
Gm13088 G T 4: 143,655,385 P247H probably damaging Het
Got1 G A 19: 43,500,412 probably null Het
Herc1 T A 9: 66,441,988 V2043E probably benign Het
Hmcn1 A T 1: 150,656,694 Y3147* probably null Het
Ifi44 T C 3: 151,749,596 probably benign Het
Ikbkap T A 4: 56,767,878 probably null Het
Il1b A T 2: 129,367,322 D129E probably damaging Het
Ino80 A T 2: 119,442,483 I504N probably damaging Het
Itpr2 A G 6: 146,375,921 I655T probably benign Het
Kcnk4 A G 19: 6,927,089 probably null Het
Mrgprb2 T A 7: 48,552,870 R36W probably damaging Het
Mslnl T C 17: 25,744,103 probably null Het
Olfr1008 G T 2: 85,690,210 L260F possibly damaging Het
Olfr1338 T A 4: 118,753,764 Y260F probably benign Het
Olfr694 A C 7: 106,689,370 Y120* probably null Het
Pcnx4 G T 12: 72,574,212 M935I probably benign Het
Pdgfra C T 5: 75,194,957 Q1043* probably null Het
Pf4 T C 5: 90,772,664 V28A probably benign Het
Piezo1 A G 8: 122,487,155 L1689P probably damaging Het
Ppa2 A G 3: 133,370,461 S284G possibly damaging Het
Psd2 T C 18: 35,987,302 probably null Het
Rbm25 G T 12: 83,672,852 G549W probably damaging Het
Ryr2 T C 13: 11,738,320 D1705G probably damaging Het
Shf A T 2: 122,359,488 D96E probably damaging Het
Slc1a1 G A 19: 28,911,769 V481M probably benign Het
Slc4a9 T C 18: 36,539,617 V807A probably benign Het
Syne2 T A 12: 76,015,582 I4226N probably damaging Het
Tkfc A T 19: 10,596,212 V254E possibly damaging Het
Ubr2 A C 17: 46,972,921 Y601D probably damaging Het
Ubr5 A C 15: 38,000,562 probably benign Het
Vmn1r27 A T 6: 58,215,869 I50K possibly damaging Het
Wdr55 A G 18: 36,763,382 E375G probably benign Het
Other mutations in Olfr393
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01485:Olfr393 APN 11 73847210 missense probably benign 0.00
IGL01845:Olfr393 APN 11 73847472 missense probably damaging 1.00
IGL01969:Olfr393 APN 11 73847609 missense possibly damaging 0.56
IGL02288:Olfr393 APN 11 73847381 missense possibly damaging 0.88
R0400:Olfr393 UTSW 11 73848041 missense probably benign 0.15
R1672:Olfr393 UTSW 11 73847955 missense probably benign 0.31
R1816:Olfr393 UTSW 11 73847199 missense probably benign 0.00
R2294:Olfr393 UTSW 11 73847486 missense probably damaging 1.00
R4506:Olfr393 UTSW 11 73847695 nonsense probably null
R4587:Olfr393 UTSW 11 73847219 missense probably benign 0.12
R4593:Olfr393 UTSW 11 73847314 missense probably benign 0.22
R5216:Olfr393 UTSW 11 73847436 missense probably damaging 0.97
R5657:Olfr393 UTSW 11 73847540 missense probably damaging 1.00
R5763:Olfr393 UTSW 11 73847867 missense probably benign 0.01
R5912:Olfr393 UTSW 11 73847675 missense possibly damaging 0.61
R6025:Olfr393 UTSW 11 73847919 missense probably benign 0.23
R6630:Olfr393 UTSW 11 73847876 missense probably benign
R6804:Olfr393 UTSW 11 73847414 missense probably benign 0.00
Posted On2015-04-16