Incidental Mutation 'IGL01768:Olfr1427'
ID153989
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1427
Ensembl Gene ENSMUSG00000067525
Gene Nameolfactory receptor 1427
SynonymsMOR239-4, GA_x6K02T2RE5P-2458473-2457538
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.059) question?
Stock #IGL01768
Quality Score
Status
Chromosome19
Chromosomal Location12098006-12103334 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 12099039 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 200 (I200N)
Ref Sequence ENSEMBL: ENSMUSP00000150457 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087825] [ENSMUST00000215374] [ENSMUST00000216069]
Predicted Effect probably damaging
Transcript: ENSMUST00000087825
AA Change: I200N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000085127
Gene: ENSMUSG00000067525
AA Change: I200N

DomainStartEndE-ValueType
Pfam:7tm_4 31 304 1.4e-47 PFAM
Pfam:7tm_1 41 304 6.8e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215374
AA Change: I200N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000216069
AA Change: I200N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216845
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
4931417E11Rik A T 6: 73,468,916 L217M possibly damaging Het
Aifm3 T C 16: 17,506,277 V567A possibly damaging Het
Arnt T C 3: 95,491,016 probably benign Het
C8b G A 4: 104,786,954 E273K probably benign Het
Capn5 C T 7: 98,125,273 R570H probably damaging Het
Ccdc173 A T 2: 69,782,127 probably benign Het
Cdh9 A T 15: 16,778,225 D42V possibly damaging Het
Cdk17 T C 10: 93,208,261 S21P probably damaging Het
Cdkl3 T A 11: 52,025,917 F291I probably damaging Het
Clmn T C 12: 104,781,719 E523G probably damaging Het
Cyp4f14 A T 17: 32,908,002 I318N probably damaging Het
Daam1 T A 12: 71,989,885 F1068L probably benign Het
Ext2 A G 2: 93,791,110 probably benign Het
F5 T A 1: 164,176,345 F236L probably benign Het
Fat2 A G 11: 55,262,568 V3606A probably damaging Het
Gpam G A 19: 55,087,520 T220M probably benign Het
Hyal1 C A 9: 107,579,139 L342I probably damaging Het
Ilvbl C A 10: 78,583,293 P459T possibly damaging Het
Itga5 A G 15: 103,351,570 Y632H probably benign Het
Krt73 T C 15: 101,798,856 D299G probably benign Het
Lcp1 T C 14: 75,224,133 V522A probably benign Het
Lmo3 A G 6: 138,416,497 C53R probably damaging Het
Nsun7 T C 5: 66,278,700 V305A probably benign Het
Olfr1391 G A 11: 49,328,131 C240Y probably damaging Het
Olfr859 G A 9: 19,809,160 V281M possibly damaging Het
Oprm1 T C 10: 6,829,186 S196P probably damaging Het
Ovgp1 T C 3: 105,981,351 probably null Het
Pcdhb20 T C 18: 37,506,715 F765L possibly damaging Het
Ppp4r4 T C 12: 103,581,405 V3A probably benign Het
Ruvbl1 A G 6: 88,497,271 I419V probably benign Het
Scara5 T A 14: 65,689,775 C40* probably null Het
Siglec1 T C 2: 131,074,394 Q1212R probably benign Het
Slc31a1 G A 4: 62,388,036 probably null Het
Sparc G T 11: 55,405,243 N87K probably damaging Het
Tcf12 T C 9: 71,868,996 probably null Het
Timm44 A T 8: 4,266,860 F258I probably benign Het
Tm2d2 G T 8: 25,018,079 V80L possibly damaging Het
Tpr A G 1: 150,444,448 D2249G possibly damaging Het
Trim50 G T 5: 135,363,882 G217V possibly damaging Het
Ugcg T C 4: 59,217,216 probably null Het
Vmn2r107 A T 17: 20,345,606 H61L probably benign Het
Zfp84 A G 7: 29,776,666 H261R probably benign Het
Zswim2 A T 2: 83,917,957 M293K probably benign Het
Other mutations in Olfr1427
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01322:Olfr1427 APN 19 12099405 missense probably benign 0.00
IGL01520:Olfr1427 APN 19 12099636 start codon destroyed probably null 0.98
IGL02060:Olfr1427 APN 19 12099460 missense probably damaging 1.00
IGL02328:Olfr1427 APN 19 12098782 missense probably damaging 1.00
R0346:Olfr1427 UTSW 19 12099439 missense probably damaging 0.96
R1264:Olfr1427 UTSW 19 12098834 missense probably benign 0.42
R1702:Olfr1427 UTSW 19 12099166 missense probably benign 0.25
R1709:Olfr1427 UTSW 19 12098881 missense probably damaging 1.00
R4781:Olfr1427 UTSW 19 12099367 missense probably benign 0.01
R4821:Olfr1427 UTSW 19 12098746 missense probably benign 0.00
R5509:Olfr1427 UTSW 19 12098977 missense possibly damaging 0.94
R5668:Olfr1427 UTSW 19 12098926 missense probably damaging 0.99
R6156:Olfr1427 UTSW 19 12099120 missense possibly damaging 0.87
R6619:Olfr1427 UTSW 19 12099363 missense probably damaging 0.99
R6950:Olfr1427 UTSW 19 12099390 missense probably benign 0.00
R7008:Olfr1427 UTSW 19 12098850 missense possibly damaging 0.68
Posted On2014-02-04