Incidental Mutation 'IGL02036:Olfr314'
ID184522
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr314
Ensembl Gene ENSMUSG00000059504
Gene Nameolfactory receptor 314
SynonymsMOR278-2, GA_x6K02T2NKPP-622179-621244
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02036
Quality Score
Status
Chromosome11
Chromosomal Location58782952-58788768 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 58787097 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 288 (Y288H)
Ref Sequence ENSEMBL: ENSMUSP00000145387 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076393] [ENSMUST00000205189]
Predicted Effect probably damaging
Transcript: ENSMUST00000076393
AA Change: Y288H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000075729
Gene: ENSMUSG00000059504
AA Change: Y288H

DomainStartEndE-ValueType
Pfam:7tm_4 26 306 2.8e-50 PFAM
Pfam:7TM_GPCR_Srsx 33 249 2.1e-6 PFAM
Pfam:7tm_1 39 288 2.3e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000205189
AA Change: Y288H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145387
Gene: ENSMUSG00000059504
AA Change: Y288H

DomainStartEndE-ValueType
Pfam:7tm_4 26 259 8.9e-42 PFAM
Pfam:7TM_GPCR_Srsx 33 246 9.4e-6 PFAM
Pfam:7tm_1 39 259 1.1e-25 PFAM
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik G A 7: 28,137,525 V290M possibly damaging Het
Cep290 T A 10: 100,558,100 C2056* probably null Het
Cyp2c38 T A 19: 39,460,316 D143V probably null Het
Ddx10 T C 9: 53,204,183 K617R probably benign Het
Dgat2l6 T A X: 100,545,593 I336N probably damaging Het
Dopey1 A G 9: 86,531,765 I1906M probably benign Het
Dpep3 T G 8: 105,973,785 T430P probably benign Het
Dph1 T C 11: 75,184,165 probably null Het
Epha7 T C 4: 28,950,509 S775P probably damaging Het
F5 A G 1: 164,183,002 probably benign Het
Hdx T A X: 111,659,867 T342S probably benign Het
Inpp4a T C 1: 37,377,569 probably benign Het
Itgad A G 7: 128,189,821 T515A possibly damaging Het
Kcnc2 T A 10: 112,455,926 S340T possibly damaging Het
Krba1 C T 6: 48,415,642 T830I possibly damaging Het
Lrch1 G A 14: 74,795,293 probably benign Het
Mag C T 7: 30,908,452 V295M probably damaging Het
Mmp16 T A 4: 18,093,371 D375E probably benign Het
Olfr1216 A G 2: 89,013,479 V195A probably benign Het
Olfr90 A G 17: 37,085,667 F166S probably damaging Het
Pcyox1l T C 18: 61,707,536 probably benign Het
Secisbp2l A G 2: 125,758,207 S403P probably benign Het
Sh3tc2 T A 18: 62,014,907 H1229Q probably benign Het
Svep1 A C 4: 58,088,245 W1735G possibly damaging Het
Tbxas1 T A 6: 39,021,157 C220S probably benign Het
Vmn1r173 G T 7: 23,702,896 M185I probably benign Het
Ywhag A G 5: 135,911,494 V82A probably benign Het
Other mutations in Olfr314
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02268:Olfr314 APN 11 58786725 missense probably benign 0.39
IGL02743:Olfr314 APN 11 58786780 nonsense probably null
R0157:Olfr314 UTSW 11 58787059 missense probably damaging 1.00
R0622:Olfr314 UTSW 11 58786341 missense probably damaging 1.00
R0926:Olfr314 UTSW 11 58787109 missense probably damaging 1.00
R1985:Olfr314 UTSW 11 58786384 missense probably damaging 0.99
R2273:Olfr314 UTSW 11 58786666 missense probably benign 0.00
R2274:Olfr314 UTSW 11 58786666 missense probably benign 0.00
R5642:Olfr314 UTSW 11 58786828 missense probably damaging 1.00
R5770:Olfr314 UTSW 11 58786594 missense probably benign 0.39
R6292:Olfr314 UTSW 11 58786237 start codon destroyed probably null 0.94
R6813:Olfr314 UTSW 11 58786646 missense probably benign 0.06
Posted On2014-05-07