Incidental Mutation 'R7694:Or14c46'
ID 593548
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 045757-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R7694 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 85917938-85919019 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85918983 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 5 (T5A)
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: T5A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000080589
Gene: ENSMUSG00000057540
AA Change: T5A

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: T5A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afdn T G 17: 14,109,144 (GRCm39) S1571A probably damaging Het
Agbl1 C A 7: 76,348,513 (GRCm39) A870D unknown Het
Alpl C T 4: 137,471,120 (GRCm39) G339R probably damaging Het
Ankrd55 T C 13: 112,504,498 (GRCm39) Y415H probably damaging Het
Cd69 G A 6: 129,247,008 (GRCm39) R111C possibly damaging Het
Cdh26 A T 2: 178,101,896 (GRCm39) T172S probably damaging Het
Cflar T A 1: 58,791,966 (GRCm39) V423E Het
Cgrrf1 A C 14: 47,091,415 (GRCm39) Q313P possibly damaging Het
Chga G A 12: 102,527,606 (GRCm39) A87T probably benign Het
Chrna4 T A 2: 180,660,386 (GRCm39) D102V Het
Cpvl A T 6: 53,909,502 (GRCm39) Y211* probably null Het
Cyp26a1 G A 19: 37,689,512 (GRCm39) D403N possibly damaging Het
Dchs2 T C 3: 83,036,789 (GRCm39) L512P probably damaging Het
Dll3 A C 7: 28,001,170 (GRCm39) M1R probably null Het
Dnah12 A G 14: 26,503,337 (GRCm39) T1564A probably damaging Het
Efhb A G 17: 53,707,836 (GRCm39) S776P probably damaging Het
Eml5 T C 12: 98,758,822 (GRCm39) S1831G probably damaging Het
Fat1 G T 8: 45,441,967 (GRCm39) probably null Het
Fhad1 T C 4: 141,632,375 (GRCm39) K1255E probably benign Het
Fitm2 C T 2: 163,311,892 (GRCm39) C107Y probably damaging Het
Gdpd4 T C 7: 97,621,146 (GRCm39) V153A probably benign Het
Ggnbp2 A G 11: 84,751,539 (GRCm39) V87A possibly damaging Het
Glb1l G T 1: 75,178,436 (GRCm39) A334E probably damaging Het
Gnas T G 2: 174,142,005 (GRCm39) L784R probably damaging Het
Gtf2i C T 5: 134,311,659 (GRCm39) E223K probably damaging Het
H2-M10.5 T C 17: 37,084,641 (GRCm39) Y122H probably damaging Het
Hikeshi G A 7: 89,579,554 (GRCm39) Q6* probably null Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Irak2 A C 6: 113,667,859 (GRCm39) D528A probably damaging Het
Lcn2 A G 2: 32,278,042 (GRCm39) C17R unknown Het
Lcp2 G T 11: 34,000,924 (GRCm39) V36L probably benign Het
Lin7c T C 2: 109,726,617 (GRCm39) S89P probably benign Het
Lrrc37a C T 11: 103,395,204 (GRCm39) A74T probably benign Het
Lrrtm3 T A 10: 63,923,818 (GRCm39) M450L probably benign Het
Lsm11 C T 11: 45,824,768 (GRCm39) R253Q probably benign Het
Map9 A T 3: 82,266,290 (GRCm39) probably benign Het
Mmp2 T A 8: 93,558,358 (GRCm39) D142E possibly damaging Het
Nrn1l A T 8: 106,621,430 (GRCm39) T127S probably damaging Het
Pelp1 G A 11: 70,285,585 (GRCm39) T761I probably damaging Het
Pmm2 T A 16: 8,463,254 (GRCm39) V63E probably damaging Het
Ptprb T A 10: 116,208,853 (GRCm39) L1942H probably damaging Het
Ptprk T A 10: 28,465,366 (GRCm39) C1350S possibly damaging Het
Rnf44 A G 13: 54,829,841 (GRCm39) V381A probably damaging Het
Robo3 G A 9: 37,329,816 (GRCm39) P1167S probably benign Het
Ryk A G 9: 102,775,979 (GRCm39) E489G probably damaging Het
Satb2 T A 1: 56,910,683 (GRCm39) I321L probably benign Het
Sh2b1 A T 7: 126,066,929 (GRCm39) V655E probably benign Het
Slc16a12 G A 19: 34,648,035 (GRCm39) T486M probably damaging Het
Slc34a1 G T 13: 55,561,221 (GRCm39) R562L probably benign Het
Slc4a9 A G 18: 36,669,902 (GRCm39) E779G probably damaging Het
Strc C A 2: 121,207,577 (GRCm39) C598F probably damaging Het
Stxbp6 A T 12: 44,948,810 (GRCm39) F100I probably damaging Het
Tap2 A G 17: 34,424,671 (GRCm39) T135A probably benign Het
Tmcc1 G A 6: 116,110,805 (GRCm39) P159S Het
Tmem106b T A 6: 13,078,105 (GRCm39) M100K probably benign Het
Ttn T A 2: 76,578,039 (GRCm39) T24285S probably damaging Het
Vmn1r116 G A 7: 20,606,337 (GRCm39) V53M possibly damaging Het
Zar1 A T 5: 72,738,193 (GRCm39) S70T probably benign Het
Zfp235 C T 7: 23,841,525 (GRCm39) T648M probably benign Het
Zfp937 C T 2: 150,081,268 (GRCm39) H433Y probably 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
R4291: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
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'- TTCCTGAGGAAGAAGTACATGG -3'
(R):5'- ATACCATACAACTGGACAGATAGG -3'

Sequencing Primer
(F):5'- AGAAGTACATGGGTGTGTTCAG -3'
(R):5'- ATTAAGTTATTCCTTGTCC -3'
Posted On 2019-11-12