Incidental Mutation 'IGL01736:Olfr1394'
ID105688
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1394
Ensembl Gene ENSMUSG00000048378
Gene Nameolfactory receptor 1394
SynonymsMOR280-1, GA_x6K02T2QP88-6274566-6273628
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.050) question?
Stock #IGL01736
Quality Score
Status
Chromosome11
Chromosomal Location49154377-49162854 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 49160527 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 171 (C171Y)
Ref Sequence ENSEMBL: ENSMUSP00000149520 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052668] [ENSMUST00000216273]
Predicted Effect probably damaging
Transcript: ENSMUST00000052668
AA Change: C171Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000063062
Gene: ENSMUSG00000048378
AA Change: C171Y

DomainStartEndE-ValueType
Pfam:7tm_4 30 309 6.5e-53 PFAM
Pfam:7TM_GPCR_Srsx 37 233 3e-5 PFAM
Pfam:7tm_1 43 292 2.1e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216273
AA Change: C171Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A G 5: 114,188,442 T290A possibly damaging Het
Apip G A 2: 103,087,141 V62M probably damaging Het
Appbp2 T C 11: 85,214,317 K141R possibly damaging Het
Arhgef18 T A 8: 3,451,624 probably benign Het
B3galt2 A G 1: 143,646,845 T240A probably benign Het
Bivm A T 1: 44,141,813 N385I probably damaging Het
Brd4 A T 17: 32,198,675 probably benign Het
Cage1 T C 13: 38,022,813 D352G possibly damaging Het
Ceacam10 A G 7: 24,781,110 Y102C probably damaging Het
Diaph3 T C 14: 86,918,846 D677G probably benign Het
Dis3l T C 9: 64,319,254 probably null Het
Dnah6 C T 6: 73,188,377 V582M probably benign Het
Fndc3b A G 3: 27,467,403 L541P probably damaging Het
Folh1 T C 7: 86,742,236 T384A possibly damaging Het
Gdpd3 T C 7: 126,766,523 L18P probably damaging Het
Grxcr2 T A 18: 41,998,982 K7N probably damaging Het
Gulo A G 14: 65,996,876 F246L probably benign Het
Inpp4b A T 8: 81,997,339 D500V probably benign Het
Ints4 C T 7: 97,526,642 L647F probably benign Het
Kif17 T A 4: 138,286,565 L264Q possibly damaging Het
Kif21a T C 15: 90,959,745 N1104S possibly damaging Het
Ly6e T G 15: 74,958,697 L132R probably benign Het
Mis18bp1 T A 12: 65,138,678 H905L probably damaging Het
Nr2f2 A G 7: 70,354,698 S269P probably damaging Het
Olfr1176 T A 2: 88,340,427 N287K probably damaging Het
Olfr1360 C A 13: 21,674,617 C109F probably benign Het
Pde8b T C 13: 95,030,402 I757V probably damaging Het
Psg23 A T 7: 18,612,197 I191N possibly damaging Het
Slc12a4 A T 8: 105,945,843 probably null Het
Snph A T 2: 151,594,173 Y209* probably null Het
Tnfaip3 T C 10: 19,006,901 H256R probably damaging Het
Tnip3 T A 6: 65,596,123 probably benign Het
Ttc3 T A 16: 94,442,527 F1130Y probably damaging Het
Twnk T G 19: 45,010,188 V515G probably damaging Het
Usp24 T A 4: 106,423,461 I2324K probably benign Het
Vwa7 T C 17: 35,019,851 F305S probably damaging Het
Ythdc2 A T 18: 44,850,668 Q567L probably damaging Het
Zbtb11 T A 16: 55,998,160 I649K probably damaging Het
Zbtb49 T C 5: 38,200,860 Y683C probably damaging Het
Zfhx4 A T 3: 5,244,092 M793L possibly damaging Het
Zmym6 T G 4: 127,108,644 I556R probably damaging Het
Zswim8 C T 14: 20,714,712 P717S probably benign Het
Other mutations in Olfr1394
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01525:Olfr1394 APN 11 49160674 missense probably damaging 1.00
IGL01603:Olfr1394 APN 11 49160611 missense probably damaging 1.00
IGL02246:Olfr1394 APN 11 49160094 missense probably benign 0.44
IGL02321:Olfr1394 APN 11 49160775 missense probably damaging 1.00
IGL03405:Olfr1394 APN 11 49160886 unclassified probably null
R0358:Olfr1394 UTSW 11 49160244 missense probably benign 0.00
R1967:Olfr1394 UTSW 11 49160848 missense probably benign 0.06
R2472:Olfr1394 UTSW 11 49160371 missense possibly damaging 0.76
R3824:Olfr1394 UTSW 11 49160793 missense possibly damaging 0.48
R4105:Olfr1394 UTSW 11 49160548 missense possibly damaging 0.51
R4255:Olfr1394 UTSW 11 49160435 nonsense probably null
R4716:Olfr1394 UTSW 11 49160890 missense probably damaging 1.00
R5545:Olfr1394 UTSW 11 49160626 missense probably damaging 1.00
R6894:Olfr1394 UTSW 11 49160359 missense probably benign 0.06
R6999:Olfr1394 UTSW 11 49160412 missense possibly damaging 0.53
Posted On2014-01-21