Incidental Mutation 'IGL01534:Olfr114'
ID89865
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr114
Ensembl Gene ENSMUSG00000062629
Gene Nameolfactory receptor 114
SynonymsMOR218-10, GA_x6K02T2PSCP-2049802-2048870
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.059) question?
Stock #IGL01534
Quality Score
Status
Chromosome17
Chromosomal Location37589233-37592743 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 37590072 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 94 (Y94N)
Ref Sequence ENSEMBL: ENSMUSP00000149735 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076914] [ENSMUST00000214871] [ENSMUST00000216249]
Predicted Effect possibly damaging
Transcript: ENSMUST00000076914
AA Change: Y94N

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000076181
Gene: ENSMUSG00000062629
AA Change: Y94N

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 2e-43 PFAM
Pfam:7TM_GPCR_Srsx 35 305 3.7e-6 PFAM
Pfam:7tm_1 41 290 3e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000214871
AA Change: Y94N

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216249
AA Change: Y94N

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd5 T C 9: 122,368,081 L111P possibly damaging Het
Adck5 C A 15: 76,594,726 H383Q probably damaging Het
Asns T A 6: 7,675,397 H535L probably benign Het
Atf5 A G 7: 44,813,038 S221P probably damaging Het
Atr T C 9: 95,865,546 Y294H probably damaging Het
B230307C23Rik A G 16: 98,008,761 probably benign Het
C1qtnf6 C T 15: 78,525,216 E144K probably benign Het
Casp8ap2 C T 4: 32,648,134 probably benign Het
Cd48 C A 1: 171,695,739 P50Q possibly damaging Het
Cnnm4 T C 1: 36,499,515 Y593H probably benign Het
Col27a1 G A 4: 63,225,782 R569Q probably benign Het
Cubn A T 2: 13,465,933 C549* probably null Het
Dsg1a T A 18: 20,340,996 M1042K probably benign Het
Dzip1 T A 14: 118,877,239 T835S probably damaging Het
Eif3c T C 7: 126,557,695 T389A probably benign Het
Erlin2 G T 8: 27,031,957 E177* probably null Het
Fam172a T A 13: 77,999,711 probably benign Het
Gabrb1 T A 5: 71,869,429 S91T possibly damaging Het
Grik3 T C 4: 125,686,190 V576A probably damaging Het
Gtpbp2 T A 17: 46,163,504 Y70N probably damaging Het
Idh3a T A 9: 54,601,222 probably benign Het
Ift74 G A 4: 94,679,944 R406H probably benign Het
Kcna7 C A 7: 45,406,511 N50K probably damaging Het
Kcnd2 T C 6: 21,726,145 S546P probably benign Het
Lrp4 G A 2: 91,473,641 D134N probably damaging Het
Mcm2 A G 6: 88,887,718 probably null Het
Nlrp12 T C 7: 3,239,833 Y683C probably benign Het
Olfr1104 A G 2: 87,021,884 I220T probably damaging Het
Olfr1499 T A 19: 13,815,302 H96L probably benign Het
Olfr1502 A T 19: 13,861,919 N42I probably damaging Het
Olfr710 T A 7: 106,944,339 I221F probably damaging Het
P2rx7 A C 5: 122,676,698 I409L probably damaging Het
Pde10a A G 17: 8,944,970 N191S probably damaging Het
Rabggtb A G 3: 153,910,259 probably null Het
Rgs4 A T 1: 169,744,516 C71* probably null Het
Rnase10 T C 14: 51,007,979 F5L probably benign Het
Scn11a T A 9: 119,780,822 T987S probably benign Het
Shox2 A C 3: 66,978,363 D126E probably benign Het
Slc12a1 A G 2: 125,217,910 D910G probably damaging Het
Slc15a1 C T 14: 121,464,952 C594Y possibly damaging Het
Spock2 C T 10: 60,127,061 probably benign Het
Togaram1 G T 12: 64,966,547 D191Y probably damaging Het
Triml2 T C 8: 43,187,623 V172A probably benign Het
Tubb3 C T 8: 123,420,966 R213C probably benign Het
Vmn2r4 A T 3: 64,406,423 V379E probably damaging Het
Zfp446 C T 7: 12,979,566 P153L probably damaging Het
Zfp608 A T 18: 54,898,932 N645K probably damaging Het
Other mutations in Olfr114
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01624:Olfr114 APN 17 37589925 missense probably benign 0.00
IGL02026:Olfr114 APN 17 37589407 utr 3 prime probably benign
IGL02608:Olfr114 APN 17 37590219 missense probably damaging 1.00
IGL02632:Olfr114 APN 17 37590341 missense probably benign 0.00
IGL02990:Olfr114 APN 17 37589668 missense probably benign 0.00
R0114:Olfr114 UTSW 17 37589415 makesense probably null
R1156:Olfr114 UTSW 17 37589517 missense possibly damaging 0.93
R1366:Olfr114 UTSW 17 37589764 missense probably benign 0.03
R3413:Olfr114 UTSW 17 37589696 missense probably benign 0.00
R3701:Olfr114 UTSW 17 37589826 nonsense probably null
R6122:Olfr114 UTSW 17 37589926 missense probably benign 0.12
R6639:Olfr114 UTSW 17 37589931 missense probably damaging 1.00
R7066:Olfr114 UTSW 17 37590143 missense probably damaging 1.00
R7316:Olfr114 UTSW 17 37590135 missense probably damaging 0.99
Posted On2013-12-03