Incidental Mutation 'IGL01469:Olfr514'
ID88198
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr514
Ensembl Gene ENSMUSG00000066241
Gene Nameolfactory receptor 514
SynonymsMOR268-1, GA_x6K02T2PBJ9-11156311-11155379
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.091) question?
Stock #IGL01469
Quality Score
Status
Chromosome7
Chromosomal Location108825065-108825997 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 108825327 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 224 (V224A)
Ref Sequence ENSEMBL: ENSMUSP00000081807 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084754]
Predicted Effect probably benign
Transcript: ENSMUST00000084754
AA Change: V224A

PolyPhen 2 Score 0.295 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000081807
Gene: ENSMUSG00000066241
AA Change: V224A

DomainStartEndE-ValueType
Pfam:7tm_4 30 307 3.9e-57 PFAM
Pfam:7tm_1 40 289 5e-21 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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430007A20Rik A G 4: 144,528,622 Q204R possibly damaging Het
Actn2 C T 13: 12,310,910 E60K possibly damaging Het
Alpk1 T C 3: 127,677,752 probably null Het
Ccdc107 A G 4: 43,495,751 N218S probably benign Het
Cdh23 A T 10: 60,597,725 M60K probably benign Het
Cenpe A G 3: 135,228,806 Q378R probably damaging Het
Dnah8 T A 17: 30,683,714 probably benign Het
Eif2b4 T C 5: 31,187,767 D190G probably benign Het
Fmo5 A G 3: 97,651,568 N448S probably benign Het
Gal3st2c A G 1: 94,009,317 N328S probably benign Het
Gbf1 A T 19: 46,279,364 E1271V probably damaging Het
Ifitm6 A T 7: 141,016,812 V16D probably damaging Het
Ighv2-4 A G 12: 113,653,346 probably null Het
Kng2 T A 16: 22,999,827 K305I probably damaging Het
Lrp1 C T 10: 127,584,414 R900Q probably damaging Het
Maml1 A G 11: 50,266,526 M274T probably damaging Het
Med23 A G 10: 24,882,597 E278G probably damaging Het
Myo1h A G 5: 114,361,269 T164A probably damaging Het
Ncoa2 A T 1: 13,186,869 S135R probably benign Het
Nrbf2 A G 10: 67,270,140 L41P probably damaging Het
Olfr108 T A 17: 37,445,535 S5T probably benign Het
Olfr341 T C 2: 36,479,824 Y102C probably benign Het
Olfr678 T A 7: 105,070,388 M307K probably benign Het
Olfr782 A G 10: 129,350,580 M6V probably benign Het
Otoa T C 7: 121,155,273 probably null Het
Pih1d3 A T 1: 31,223,429 D164V probably damaging Het
Plxnb1 T C 9: 109,105,415 probably benign Het
Ppp1r42 A T 1: 10,003,233 probably null Het
Rad54l2 T A 9: 106,722,758 K100M probably damaging Het
Rnf112 T A 11: 61,451,341 T308S possibly damaging Het
Scaper T C 9: 55,859,767 D466G probably damaging Het
Sgsm2 T A 11: 74,853,871 I796L possibly damaging Het
Shank3 T C 15: 89,521,274 L476P probably damaging Het
Shkbp1 T C 7: 27,355,941 T6A probably benign Het
Slc14a2 A T 18: 78,155,566 I783N probably damaging Het
Stat1 A G 1: 52,147,370 D447G possibly damaging Het
Tekt3 T G 11: 63,073,468 I208S probably damaging Het
Tenm3 A T 8: 48,236,423 V2043E probably damaging Het
Tgm3 T C 2: 130,024,494 Y111H probably damaging Het
Tph2 T A 10: 115,079,759 R459* probably null Het
Vmn2r109 T C 17: 20,541,409 Y562C probably damaging Het
Other mutations in Olfr514
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Olfr514 APN 7 108825073 missense probably benign 0.00
IGL02079:Olfr514 APN 7 108825936 missense probably damaging 0.99
IGL02330:Olfr514 APN 7 108825999 unclassified probably benign
IGL02662:Olfr514 APN 7 108825745 missense probably benign 0.16
IGL02713:Olfr514 APN 7 108825594 missense probably damaging 1.00
R1158:Olfr514 UTSW 7 108825178 missense probably damaging 1.00
R1610:Olfr514 UTSW 7 108825924 missense probably benign
R1638:Olfr514 UTSW 7 108825235 missense probably benign 0.03
R4242:Olfr514 UTSW 7 108825459 missense probably benign
R4630:Olfr514 UTSW 7 108825595 missense probably damaging 1.00
R5042:Olfr514 UTSW 7 108825471 missense possibly damaging 0.72
R5967:Olfr514 UTSW 7 108825714 missense probably benign 0.12
R7180:Olfr514 UTSW 7 108825979 missense probably damaging 0.98
Z1088:Olfr514 UTSW 7 108825896 nonsense probably null
Posted On2013-11-18