Incidental Mutation 'R4291:Or14c46'
ID 323065
Institutional Source Beutler Lab
Gene Symbol Or14c46
Ensembl Gene ENSMUSG00000057540
Gene Name olfactory receptor family 14 subfamily C member 46
Synonyms GA_x6K02T2NHDJ-9838699-9839697, Olfr310, MOR227-6P
MMRRC Submission 041081-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R4291 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 85917938-85919019 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 85918968 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 10 (F10I)
Ref Sequence ENSEMBL: ENSMUSP00000151989 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081918] [ENSMUST00000217724]
AlphaFold B2RVZ1
Predicted Effect probably damaging
Transcript: ENSMUST00000081918
AA Change: F10I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080589
Gene: ENSMUSG00000057540
AA Change: F10I

DomainStartEndE-ValueType
Pfam:7tm_4 29 307 8.9e-46 PFAM
Pfam:7tm_1 39 289 1.8e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000217724
AA Change: F10I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.4674 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 100% (62/62)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 T C 3: 36,120,337 (GRCm39) F27S probably benign Het
AK157302 T A 13: 21,679,715 (GRCm39) D80E probably damaging Het
Amz2 T C 11: 109,324,881 (GRCm39) probably null Het
Angel1 A G 12: 86,767,057 (GRCm39) Y440H probably damaging Het
Ankrd34c T A 9: 89,611,817 (GRCm39) K175* probably null Het
Arid1b C A 17: 5,090,938 (GRCm39) S546R probably damaging Het
Atf6b T A 17: 34,871,648 (GRCm39) M428K probably benign Het
Brpf3 G A 17: 29,042,949 (GRCm39) V997M probably benign Het
Cckar A G 5: 53,863,839 (GRCm39) S41P probably benign Het
Cd96 T A 16: 45,892,112 (GRCm39) Q292L probably damaging Het
Cdh18 C A 15: 22,714,637 (GRCm39) probably benign Het
Cfb T G 17: 35,080,114 (GRCm39) D122A possibly damaging Het
Copa G T 1: 171,919,964 (GRCm39) probably benign Het
Ctnna2 T A 6: 76,859,728 (GRCm39) K854N probably damaging Het
Cwh43 G A 5: 73,569,275 (GRCm39) V106M probably benign Het
Dact2 C T 17: 14,416,833 (GRCm39) E456K probably benign Het
Dnah8 T C 17: 30,967,533 (GRCm39) S2582P probably benign Het
Eef2 A G 10: 81,015,414 (GRCm39) T312A probably benign Het
Enpep T A 3: 129,063,966 (GRCm39) R934* probably null Het
Fam240b A T 13: 64,629,627 (GRCm39) M63K possibly damaging Het
Fhdc1 C A 3: 84,352,133 (GRCm39) V1031F probably benign Het
Gm6124 A T 7: 38,872,195 (GRCm39) noncoding transcript Het
Gsn G A 2: 35,180,432 (GRCm39) V147I probably benign Het
Gucy1a1 A T 3: 82,002,066 (GRCm39) F671Y possibly damaging Het
Hectd3 A G 4: 116,852,889 (GRCm39) E97G probably damaging Het
Kcnv1 G A 15: 44,977,840 (GRCm39) T66M probably damaging Het
Krba1 C T 6: 48,392,599 (GRCm39) P802S possibly damaging Het
Lca5l C T 16: 95,979,974 (GRCm39) S52N probably damaging Het
Lmf1 T C 17: 25,873,455 (GRCm39) L320P probably damaging Het
Map3k4 G T 17: 12,474,147 (GRCm39) Q845K probably benign Het
Mapkapk3 T C 9: 107,136,131 (GRCm39) probably benign Het
Mccc1 A G 3: 36,044,217 (GRCm39) V203A probably damaging Het
Mcm9 C A 10: 53,423,668 (GRCm39) M677I probably benign Het
Mkrn2 A G 6: 115,594,395 (GRCm39) T369A possibly damaging Het
Mthfr C A 4: 148,139,949 (GRCm39) N623K probably damaging Het
Myh2 T C 11: 67,071,985 (GRCm39) V571A probably benign Het
Nom1 G A 5: 29,651,370 (GRCm39) probably null Het
Nucb1 T A 7: 45,144,704 (GRCm39) D283V probably damaging Het
Or12e8 G A 2: 87,188,419 (GRCm39) M210I probably benign Het
Or2v2 T A 11: 49,004,254 (GRCm39) I100L probably benign Het
Pcdhb1 A C 18: 37,398,470 (GRCm39) L140F probably damaging Het
Ptgs2 G A 1: 149,976,002 (GRCm39) A10T probably benign Het
Rfx3 C T 19: 27,777,632 (GRCm39) R497Q probably damaging Het
Rps6kb1 A T 11: 86,410,702 (GRCm39) probably benign Het
Slc22a21 T C 11: 53,860,329 (GRCm39) D34G probably damaging Het
Spata13 T A 14: 60,947,004 (GRCm39) M684K probably damaging Het
Tet3 T C 6: 83,350,181 (GRCm39) T961A probably damaging Het
Ttc27 T C 17: 75,163,474 (GRCm39) L694P probably damaging Het
Vmn1r238 G A 18: 3,123,214 (GRCm39) Q67* probably null Het
Vmn2r101 A T 17: 19,832,303 (GRCm39) R766S probably damaging Het
Vwf A T 6: 125,619,285 (GRCm39) Y1321F probably damaging Het
Wfdc1 C A 8: 120,406,194 (GRCm39) P103Q probably damaging Het
Zfp488 C A 14: 33,692,851 (GRCm39) C104F possibly damaging Het
Other mutations in Or14c46
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00095:Or14c46 APN 7 85,918,877 (GRCm39) missense probably damaging 1.00
IGL00917:Or14c46 APN 7 85,918,649 (GRCm39) missense probably damaging 1.00
IGL02145:Or14c46 APN 7 85,918,466 (GRCm39) missense probably damaging 1.00
IGL02639:Or14c46 APN 7 85,918,928 (GRCm39) missense probably damaging 0.99
R0139:Or14c46 UTSW 7 85,918,187 (GRCm39) missense probably benign 0.00
R0554:Or14c46 UTSW 7 85,918,865 (GRCm39) missense probably damaging 0.99
R1392:Or14c46 UTSW 7 85,918,063 (GRCm39) missense probably benign 0.01
R1392:Or14c46 UTSW 7 85,918,063 (GRCm39) missense probably benign 0.01
R1474:Or14c46 UTSW 7 85,918,270 (GRCm39) missense probably damaging 1.00
R2379:Or14c46 UTSW 7 85,918,857 (GRCm39) missense probably damaging 1.00
R3692:Or14c46 UTSW 7 85,918,703 (GRCm39) missense probably damaging 1.00
R4290:Or14c46 UTSW 7 85,918,968 (GRCm39) missense probably damaging 1.00
R4295:Or14c46 UTSW 7 85,918,968 (GRCm39) missense probably damaging 1.00
R5071:Or14c46 UTSW 7 85,918,799 (GRCm39) missense probably damaging 0.99
R5072:Or14c46 UTSW 7 85,918,799 (GRCm39) missense probably damaging 0.99
R5074:Or14c46 UTSW 7 85,918,799 (GRCm39) missense probably damaging 0.99
R5828:Or14c46 UTSW 7 85,918,728 (GRCm39) missense probably benign 0.00
R6174:Or14c46 UTSW 7 85,918,009 (GRCm39) missense probably benign
R6207:Or14c46 UTSW 7 85,918,968 (GRCm39) missense probably damaging 1.00
R6493:Or14c46 UTSW 7 85,918,090 (GRCm39) missense probably benign 0.21
R7068:Or14c46 UTSW 7 85,918,745 (GRCm39) missense probably damaging 1.00
R7196:Or14c46 UTSW 7 85,918,649 (GRCm39) missense probably damaging 1.00
R7694:Or14c46 UTSW 7 85,918,983 (GRCm39) missense probably damaging 1.00
R7794:Or14c46 UTSW 7 85,918,341 (GRCm39) missense probably damaging 0.99
R9315:Or14c46 UTSW 7 85,918,495 (GRCm39) nonsense probably null
Z1176:Or14c46 UTSW 7 85,918,155 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTCTAAAATGGACAGATTCCTGAGG -3'
(R):5'- CTGGACAGATAGGTATAACTCTGTG -3'

Sequencing Primer
(F):5'- TTCCTGAGGAAGAAGTACATGG -3'
(R):5'- ATTAAGTTATTCCTTGTCC -3'
Posted On 2015-06-20