Incidental Mutation 'R1158:Olfr514'
Institutional Source Beutler Lab
Gene Symbol Olfr514
Ensembl Gene ENSMUSG00000066241
Gene Nameolfactory receptor 514
SynonymsMOR268-1, GA_x6K02T2PBJ9-11156311-11155379
MMRRC Submission 039231-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.091) question?
Stock #R1158 (G1)
Quality Score225
Status Validated
Chromosomal Location108825065-108825997 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 108825178 bp
Amino Acid Change Serine to Proline at position 274 (S274P)
Ref Sequence ENSEMBL: ENSMUSP00000081807 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084754]
Predicted Effect probably damaging
Transcript: ENSMUST00000084754
AA Change: S274P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000081807
Gene: ENSMUSG00000066241
AA Change: S274P

Pfam:7tm_4 30 307 3.9e-57 PFAM
Pfam:7tm_1 40 289 5e-21 PFAM
Meta Mutation Damage Score 0.4026 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.3%
Validation Efficiency 98% (43/44)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adpgk T C 9: 59,310,283 V193A possibly damaging Het
Ahnak A C 19: 9,013,926 E4191D probably benign Het
BC024139 T A 15: 76,120,342 probably benign Het
Bpifb9a T G 2: 154,262,264 I209S probably benign Het
Bst1 T G 5: 43,840,492 probably null Het
Cacna1c C T 6: 118,612,625 R1446H probably damaging Het
Carf A G 1: 60,147,839 K499E probably benign Het
Casq2 A G 3: 102,116,883 E147G probably damaging Het
Cd8a T A 6: 71,373,728 V59D probably damaging Het
Chrm5 T C 2: 112,479,869 T301A probably benign Het
Cog5 G A 12: 31,870,057 probably benign Het
Csmd3 T C 15: 48,292,774 probably null Het
Dopey1 T C 9: 86,485,556 S31P probably damaging Het
Epb41 T C 4: 132,000,191 probably benign Het
Fhod3 C T 18: 24,985,236 A210V probably damaging Het
Gdpgp1 T C 7: 80,238,502 F94L probably benign Het
Gm10264 A T 12: 88,329,668 I139F unknown Het
Hlx G T 1: 184,731,987 A52D probably damaging Het
Htr3b T C 9: 48,936,090 K375R possibly damaging Het
Inhbe G A 10: 127,351,317 R77W probably damaging Het
Itgb8 T C 12: 119,202,496 E100G probably damaging Het
Jakmip1 T C 5: 37,091,128 V44A possibly damaging Het
Lrp12 A G 15: 39,878,431 V315A probably damaging Het
Lrp1b T A 2: 40,677,494 T305S unknown Het
Map3k2 A G 18: 32,217,158 T354A probably benign Het
Mmp16 T C 4: 17,987,726 probably null Het
Mphosph10 T C 7: 64,388,859 probably benign Het
Olfr1263 T A 2: 90,015,254 I108N possibly damaging Het
Olfr1297 T C 2: 111,621,741 E111G probably damaging Het
Olfr1328 A T 4: 118,934,417 C144S probably damaging Het
Olfr472 G A 7: 107,902,923 V69I possibly damaging Het
Slc43a3 C A 2: 84,937,796 F37L probably benign Het
Slf2 G T 19: 44,931,416 A36S probably damaging Het
Sorcs1 T C 19: 50,144,160 probably benign Het
Thsd7b A C 1: 130,189,935 probably null Het
Tnfrsf18 A C 4: 156,028,282 I142L probably benign Het
Ttn A G 2: 76,802,511 probably benign Het
Tufm T A 7: 126,489,442 probably null Het
Vmn2r69 A T 7: 85,409,850 probably benign Het
Zfp385c T C 11: 100,629,883 probably benign Het
Zfp964 T A 8: 69,663,853 C368S unknown Het
Zswim8 G A 14: 20,721,668 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
IGL02662:Olfr514 APN 7 108825745 missense probably benign 0.16
IGL02713:Olfr514 APN 7 108825594 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
Predicted Primers
Posted On2014-01-15