Incidental Mutation 'IGL02662:Olfr514'
ID302575
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 #IGL02662
Quality Score
Status
Chromosome7
Chromosomal Location108825065-108825997 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 108825745 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 85 (T85A)
Ref Sequence ENSEMBL: ENSMUSP00000081807 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084754]
Predicted Effect probably benign
Transcript: ENSMUST00000084754
AA Change: T85A

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000081807
Gene: ENSMUSG00000066241
AA Change: T85A

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 A G 15: 64,746,895 probably null Het
Ap5z1 G A 5: 142,476,889 probably null Het
Cdhr5 T G 7: 141,274,503 I120L possibly damaging Het
Chd5 C T 4: 152,372,131 S975F probably damaging Het
Cts3 G T 13: 61,568,057 Q132K probably damaging Het
Cylc2 T A 4: 51,216,698 probably benign Het
Defb39 A G 8: 19,052,875 V68A probably benign Het
Dgki A G 6: 36,862,486 probably benign Het
Dhtkd1 G A 2: 5,899,972 P867L probably damaging Het
Gata5 C T 2: 180,327,751 probably benign Het
Glt28d2 T A 3: 85,872,116 I17F probably damaging Het
Gm11397 A G 13: 33,404,530 N366S possibly damaging Het
Gstm2 T C 3: 107,985,062 Y82C possibly damaging Het
Hs6st1 T A 1: 36,103,812 L276* probably null Het
Iqgap1 T C 7: 80,743,079 D712G probably benign Het
Kdm4c T C 4: 74,404,821 S997P probably damaging Het
Ksr1 G A 11: 79,036,725 T289I probably damaging Het
Lingo4 T C 3: 94,401,817 probably benign Het
Ncapd2 A G 6: 125,176,731 S674P probably damaging Het
Nek1 G A 8: 61,104,184 V841I probably benign Het
Olfr1104 T C 2: 87,022,002 T181A probably benign Het
Pigx A G 16: 32,087,383 V40A probably damaging Het
Pla2g2d T G 4: 138,778,695 M5R possibly damaging Het
Ppa2 G T 3: 133,367,883 R234I probably damaging Het
Rbms1 A C 2: 60,762,306 L221R probably damaging Het
Rnasel C A 1: 153,754,111 N124K probably damaging Het
Sigirr T A 7: 141,094,794 probably benign Het
Tas2r136 A T 6: 132,777,708 V152E probably damaging Het
Tlnrd1 C T 7: 83,882,819 V135M possibly damaging Het
Tlnrd1 A G 7: 83,882,536 L229S probably damaging Het
Top1mt A G 15: 75,668,705 V239A probably damaging Het
Tpd52 A T 3: 8,944,715 probably null Het
Trim16 T A 11: 62,840,557 L331Q possibly damaging Het
Ttll4 A G 1: 74,687,231 probably null Het
Vmn1r27 T A 6: 58,215,287 D244V probably damaging Het
Vmn2r72 A C 7: 85,738,183 D724E probably benign Het
Zfp563 T C 17: 33,102,279 W18R probably damaging Het
Zswim8 T C 14: 20,713,074 V347A probably benign Het
Other mutations in Olfr514
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Olfr514 APN 7 108825073 missense probably benign 0.00
IGL01469:Olfr514 APN 7 108825327 missense probably benign 0.29
IGL02079:Olfr514 APN 7 108825936 missense probably damaging 0.99
IGL02330:Olfr514 APN 7 108825999 unclassified probably benign
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 On2015-04-16