Incidental Mutation 'IGL02173:Olfr394'
ID282961
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr394
Ensembl Gene ENSMUSG00000056921
Gene Nameolfactory receptor 394
SynonymsMOR135-8, GA_x6K02T2P1NL-4043306-4042374
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.121) question?
Stock #IGL02173
Quality Score
Status
Chromosome11
Chromosomal Location73883337-73890771 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 73888123 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 83 (M83T)
Ref Sequence ENSEMBL: ENSMUSP00000149527 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071478] [ENSMUST00000214284] [ENSMUST00000216608]
Predicted Effect possibly damaging
Transcript: ENSMUST00000071478
AA Change: M83T

PolyPhen 2 Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000071415
Gene: ENSMUSG00000056921
AA Change: M83T

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 1.4e-55 PFAM
Pfam:7TM_GPCR_Srsx 33 303 4e-7 PFAM
Pfam:7tm_1 39 288 1.9e-24 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000214284
AA Change: M83T

PolyPhen 2 Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216608
AA Change: M83T

PolyPhen 2 Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik A T 10: 87,225,892 H68L possibly damaging Het
4930533K18Rik A G 10: 70,872,230 noncoding transcript Het
4933409G03Rik A G 2: 68,613,057 T182A unknown Het
Abca2 T A 2: 25,441,897 D1340E probably benign Het
Abcc12 G A 8: 86,566,442 A39V probably damaging Het
Acap2 T C 16: 31,108,147 R510G possibly damaging Het
Ace G T 11: 105,988,991 R719L probably benign Het
Adarb1 A C 10: 77,321,825 F263V probably damaging Het
Ambra1 T C 2: 91,917,668 S1130P probably benign Het
Aqp7 A T 4: 41,034,379 L260* probably null Het
Cntn5 G T 9: 9,748,396 S493R probably damaging Het
Crhr2 A G 6: 55,103,180 F138S probably damaging Het
D2hgdh T A 1: 93,829,889 D175E probably benign Het
Dtx4 G T 19: 12,473,257 Y530* probably null Het
Elp4 T A 2: 105,702,743 H419L probably damaging Het
Etv6 A G 6: 134,248,727 D218G possibly damaging Het
Exoc5 A G 14: 49,034,801 probably benign Het
Fyb C T 15: 6,580,695 P250S probably benign Het
Gaa A G 11: 119,274,913 Y84C probably damaging Het
Galns A T 8: 122,598,626 S262R probably damaging Het
Gm4737 T C 16: 46,154,078 N312S probably benign Het
Kctd16 T C 18: 40,530,853 I345T probably benign Het
Lats2 A G 14: 57,697,260 V671A probably damaging Het
Maml3 C A 3: 51,690,787 L179F probably damaging Het
Myo1f T C 17: 33,607,344 L1089P probably damaging Het
Nadsyn1 A T 7: 143,804,006 probably benign Het
Olfr1502 A G 19: 13,862,014 T74A probably benign Het
Olfr39 T C 9: 20,286,395 V240A probably benign Het
Olfr639 G A 7: 104,011,830 P291S probably damaging Het
Otog T C 7: 46,276,741 probably benign Het
Pcbd1 A G 10: 61,092,204 probably benign Het
Pced1a A G 2: 130,422,328 V164A possibly damaging Het
Pgd A G 4: 149,156,753 I233T probably damaging Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Sec24d A T 3: 123,353,681 H733L probably damaging Het
Slc1a2 T A 2: 102,743,861 N205K probably benign Het
Sstr2 G T 11: 113,625,016 V254L probably damaging Het
Tm9sf2 G T 14: 122,143,423 V308F probably benign Het
Tor3a T C 1: 156,674,206 K34E probably benign Het
Tsta3 A G 15: 75,926,185 S233P probably damaging Het
Ubr4 T A 4: 139,437,070 probably null Het
Vmn1r56 A G 7: 5,196,118 S167P probably damaging Het
Zswim3 T A 2: 164,820,839 I413N probably damaging Het
Other mutations in Olfr394
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Olfr394 APN 11 73888249 missense probably damaging 1.00
IGL01655:Olfr394 APN 11 73887927 missense probably benign 0.01
IGL02308:Olfr394 APN 11 73888295 missense probably benign 0.09
IGL02656:Olfr394 APN 11 73888039 missense probably damaging 0.98
R0079:Olfr394 UTSW 11 73887737 missense probably benign 0.22
R0119:Olfr394 UTSW 11 73887830 missense probably benign 0.11
R0136:Olfr394 UTSW 11 73887785 missense probably benign 0.00
R0136:Olfr394 UTSW 11 73887830 missense probably benign 0.11
R0255:Olfr394 UTSW 11 73887829 missense probably benign
R0545:Olfr394 UTSW 11 73888017 nonsense probably null
R0599:Olfr394 UTSW 11 73887904 missense probably benign 0.19
R0655:Olfr394 UTSW 11 73887805 missense possibly damaging 0.88
R0657:Olfr394 UTSW 11 73887785 missense probably benign 0.00
R0657:Olfr394 UTSW 11 73887830 missense probably benign 0.11
R0720:Olfr394 UTSW 11 73887862 missense probably benign 0.12
R1112:Olfr394 UTSW 11 73888234 missense probably damaging 0.99
R2353:Olfr394 UTSW 11 73887834 missense probably benign 0.02
R2924:Olfr394 UTSW 11 73887511 missense probably damaging 0.99
R4583:Olfr394 UTSW 11 73887803 missense probably damaging 1.00
R5231:Olfr394 UTSW 11 73887955 missense probably damaging 1.00
R5537:Olfr394 UTSW 11 73887697 missense probably benign 0.02
R5806:Olfr394 UTSW 11 73887547 missense probably damaging 0.99
R7131:Olfr394 UTSW 11 73887954 nonsense probably null
R7325:Olfr394 UTSW 11 73888275 missense probably benign 0.19
R7361:Olfr394 UTSW 11 73888001 missense probably damaging 1.00
Posted On2015-04-16