Incidental Mutation 'IGL03209:Olfr993'
ID413223
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr993
Ensembl Gene ENSMUSG00000075220
Gene Nameolfactory receptor 993
SynonymsGA_x6K02T2Q125-46891524-46890580, MOR203-2
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.252) question?
Stock #IGL03209
Quality Score
Status
Chromosome2
Chromosomal Location85413933-85414877 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 85414379 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 167 (S167T)
Ref Sequence ENSEMBL: ENSMUSP00000097510 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099926] [ENSMUST00000213749] [ENSMUST00000214895] [ENSMUST00000215617]
Predicted Effect probably benign
Transcript: ENSMUST00000099926
AA Change: S167T

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000097510
Gene: ENSMUSG00000075220
AA Change: S167T

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 3e-51 PFAM
Pfam:7TM_GPCR_Srsx 35 303 1.3e-7 PFAM
Pfam:7tm_1 41 290 2.2e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213749
Predicted Effect probably benign
Transcript: ENSMUST00000214895
Predicted Effect probably benign
Transcript: ENSMUST00000215617
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts13 C T 2: 26,992,961 A841V probably benign Het
Alms1 A G 6: 85,599,973 probably benign Het
Arc A T 15: 74,671,984 L130Q probably damaging Het
Arhgap28 C T 17: 67,868,956 V383I probably damaging Het
Atf6 T C 1: 170,834,894 S266G probably benign Het
Cd59b A G 2: 104,084,560 E101G probably benign Het
Cdc26 T C 4: 62,395,014 K30R possibly damaging Het
Clns1a A G 7: 97,711,730 D103G probably null Het
Crispld2 C A 8: 120,031,098 A394E possibly damaging Het
Cyp51 A T 5: 4,104,195 L38H probably damaging Het
Dnah7a T G 1: 53,686,614 probably benign Het
Fbxw2 T C 2: 34,822,663 R129G probably damaging Het
Fgd3 T C 13: 49,285,818 Q234R probably damaging Het
Gdpgp1 A G 7: 80,239,099 T293A probably damaging Het
Gm4951 T A 18: 60,246,071 I226N probably damaging Het
Hspa12a T G 19: 58,822,061 probably null Het
Ier5l G T 2: 30,473,055 D319E possibly damaging Het
Ikzf1 T C 11: 11,700,226 V3A probably benign Het
Itga2 T C 13: 114,880,632 N180D probably damaging Het
Lipt1 T C 1: 37,875,069 S69P probably damaging Het
Lvrn A G 18: 46,889,498 I734V probably benign Het
Man2c1 A G 9: 57,141,830 T871A probably benign Het
Ndufs1 A T 1: 63,164,737 C129S probably damaging Het
Neb A T 2: 52,290,819 F1232I probably damaging Het
Ngly1 T A 14: 16,281,831 Y362* probably null Het
Olfr92 A T 17: 37,111,521 S154T probably benign Het
Patj A G 4: 98,465,140 D640G probably null Het
Plxnd1 A T 6: 115,962,357 M1502K probably damaging Het
Sccpdh T C 1: 179,686,673 V429A possibly damaging Het
Slc25a48 T C 13: 56,470,459 V303A probably benign Het
Sult2a6 T C 7: 14,225,972 D212G probably benign Het
Tep1 A T 14: 50,840,703 probably benign Het
Tmem65 A G 15: 58,784,902 probably benign Het
Togaram2 T C 17: 71,695,745 probably null Het
Trim36 T C 18: 46,167,508 T687A probably benign Het
Unc13b T A 4: 43,239,351 D3471E probably damaging Het
Urgcp T C 11: 5,717,238 probably null Het
Zfhx4 A T 3: 5,401,171 I2155F probably damaging Het
Zfp831 T A 2: 174,645,266 V578E probably benign Het
Other mutations in Olfr993
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02428:Olfr993 APN 2 85414193 missense probably benign 0.05
R0591:Olfr993 UTSW 2 85414690 missense possibly damaging 0.95
R1437:Olfr993 UTSW 2 85414874 missense probably benign 0.01
R1836:Olfr993 UTSW 2 85414405 missense probably benign 0.36
R2084:Olfr993 UTSW 2 85414615 missense probably benign 0.01
R2902:Olfr993 UTSW 2 85414052 missense possibly damaging 0.79
R2910:Olfr993 UTSW 2 85414351 missense probably damaging 1.00
R3961:Olfr993 UTSW 2 85414872 missense possibly damaging 0.69
R4542:Olfr993 UTSW 2 85413943 missense probably benign
R4635:Olfr993 UTSW 2 85414864 missense probably damaging 1.00
R5464:Olfr993 UTSW 2 85414713 frame shift probably null
R5980:Olfr993 UTSW 2 85414165 missense probably damaging 1.00
R6139:Olfr993 UTSW 2 85414346 missense probably damaging 1.00
R6356:Olfr993 UTSW 2 85414687 missense probably damaging 1.00
R6619:Olfr993 UTSW 2 85414081 missense probably benign 0.05
R6672:Olfr993 UTSW 2 85414604 missense possibly damaging 0.87
R7326:Olfr993 UTSW 2 85414444 missense probably damaging 0.99
R7328:Olfr993 UTSW 2 85414324 missense probably benign 0.32
R7569:Olfr993 UTSW 2 85414135 missense probably damaging 1.00
Z1176:Olfr993 UTSW 2 85414663 missense probably damaging 1.00
Z1176:Olfr993 UTSW 2 85414685 missense possibly damaging 0.90
Posted On2016-08-02