Incidental Mutation 'R5799:Or6c219'
ID 447410
Institutional Source Beutler Lab
Gene Symbol Or6c219
Ensembl Gene ENSMUSG00000058071
Gene Name olfactory receptor family 6 subfamily C member 219
Synonyms Olfr818, GA_x6K02T2PULF-11624146-11623190, MOR110-2
MMRRC Submission 043388-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R5799 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 129780973-129781929 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 129781780 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 50 (D50E)
Ref Sequence ENSEMBL: ENSMUSP00000149259 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074308] [ENSMUST00000205227] [ENSMUST00000215527]
AlphaFold Q8VG46
Predicted Effect possibly damaging
Transcript: ENSMUST00000074308
AA Change: D50E

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000073918
Gene: ENSMUSG00000058071
AA Change: D50E

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 1.4e-47 PFAM
Pfam:7tm_1 39 287 3.5e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205227
SMART Domains Protein: ENSMUSP00000145108
Gene: ENSMUSG00000058071

DomainStartEndE-ValueType
Pfam:7tm_1 1 122 5e-13 PFAM
Pfam:7tm_4 1 123 8.7e-24 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000215527
AA Change: D50E

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 89% (51/57)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 C T 1: 130,668,908 (GRCm39) Q92* probably null Het
Accsl T C 2: 93,694,748 (GRCm39) probably null Het
Ahnak2 T C 12: 112,745,365 (GRCm39) probably benign Het
Alcam T C 16: 52,130,212 (GRCm39) D46G probably benign Het
Asap2 T C 12: 21,218,247 (GRCm39) S57P probably damaging Het
Atg14 A T 14: 47,784,752 (GRCm39) V314D possibly damaging Het
C230029F24Rik C T 1: 49,377,307 (GRCm39) noncoding transcript Het
Calcr A T 6: 3,707,592 (GRCm39) I236N probably benign Het
Cass4 G A 2: 172,258,107 (GRCm39) G35E probably damaging Het
Chmp6 T C 11: 119,807,517 (GRCm39) I120T probably benign Het
Col13a1 A G 10: 61,684,919 (GRCm39) probably benign Het
Cstdc4 T A 16: 36,004,631 (GRCm39) M1K probably null Het
Ddhd2 T A 8: 26,238,629 (GRCm39) L328F probably damaging Het
Defa40 T A 8: 21,740,359 (GRCm39) probably null Het
Dnmt3l A G 10: 77,887,860 (GRCm39) D123G possibly damaging Het
Eea1 T A 10: 95,838,810 (GRCm39) V287E possibly damaging Het
Efcc1 A G 6: 87,708,164 (GRCm39) N97S probably benign Het
Exd1 A G 2: 119,369,262 (GRCm39) S118P probably benign Het
Ext2 G T 2: 93,642,317 (GRCm39) T184K probably benign Het
Fam186a G A 15: 99,864,705 (GRCm39) Q42* probably null Het
Gbp2 A T 3: 142,337,843 (GRCm39) I320L probably benign Het
Gramd2a G A 9: 59,615,299 (GRCm39) G13R probably benign Het
H2-Q5 T C 17: 35,613,115 (GRCm39) M5T unknown Het
Jak3 C T 8: 72,131,344 (GRCm39) L70F probably damaging Het
Lhpp G A 7: 132,307,364 (GRCm39) V254M probably damaging Het
Lig1 T A 7: 13,030,184 (GRCm39) V387E possibly damaging Het
Lipo3 T C 19: 33,755,093 (GRCm39) probably benign Het
Lrrc8b C T 5: 105,629,208 (GRCm39) S518L probably benign Het
Narf T C 11: 121,135,480 (GRCm39) Y111H probably damaging Het
Ncf4 A G 15: 78,135,177 (GRCm39) K78R probably benign Het
Nrap A T 19: 56,330,601 (GRCm39) C1118* probably null Het
Nubp2 A G 17: 25,104,772 (GRCm39) V23A probably damaging Het
Or4l1 A T 14: 50,166,497 (GRCm39) F168Y probably damaging Het
Or8g55 T C 9: 39,785,392 (GRCm39) S274P possibly damaging Het
Pdzd7 G A 19: 45,025,428 (GRCm39) P356S probably benign Het
Rttn T C 18: 89,056,070 (GRCm39) V984A probably damaging Het
Ryr3 A G 2: 112,516,925 (GRCm39) S3334P probably damaging Het
Senp7 G A 16: 55,959,468 (GRCm39) probably null Het
Slc25a3 A C 10: 90,957,903 (GRCm39) Y50D probably benign Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Slc38a2 A T 15: 96,592,970 (GRCm39) S163T probably benign Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Stam2 A T 2: 52,610,922 (GRCm39) C4* probably null Het
Taf1a A G 1: 183,177,272 (GRCm39) D50G possibly damaging Het
Taf6l A T 19: 8,759,995 (GRCm39) Y106N possibly damaging Het
Taf7l2 T C 10: 115,948,674 (GRCm39) E284G probably damaging Het
Tbx20 G A 9: 24,636,816 (GRCm39) Q424* probably null Het
Tex10 A G 4: 48,433,295 (GRCm39) V829A possibly damaging Het
Tgfbr3 T C 5: 107,257,474 (GRCm39) probably benign Het
Tnfsf10 G T 3: 27,389,742 (GRCm39) V268F probably damaging Het
Trrap A G 5: 144,767,755 (GRCm39) T2571A probably benign Het
Other mutations in Or6c219
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00897:Or6c219 APN 10 129,781,780 (GRCm39) missense possibly damaging 0.95
IGL00951:Or6c219 APN 10 129,781,581 (GRCm39) missense probably damaging 0.99
IGL01700:Or6c219 APN 10 129,781,810 (GRCm39) missense probably damaging 1.00
IGL02313:Or6c219 APN 10 129,781,772 (GRCm39) missense probably damaging 1.00
IGL02373:Or6c219 APN 10 129,781,334 (GRCm39) missense probably benign 0.11
IGL02983:Or6c219 APN 10 129,781,058 (GRCm39) missense probably damaging 1.00
R0730:Or6c219 UTSW 10 129,780,980 (GRCm39) missense probably benign 0.04
R1574:Or6c219 UTSW 10 129,781,379 (GRCm39) missense probably damaging 1.00
R1574:Or6c219 UTSW 10 129,781,379 (GRCm39) missense probably damaging 1.00
R1789:Or6c219 UTSW 10 129,781,451 (GRCm39) nonsense probably null
R1824:Or6c219 UTSW 10 129,781,206 (GRCm39) missense possibly damaging 0.67
R2107:Or6c219 UTSW 10 129,781,581 (GRCm39) missense probably damaging 0.99
R2398:Or6c219 UTSW 10 129,781,076 (GRCm39) missense probably benign 0.04
R6048:Or6c219 UTSW 10 129,781,695 (GRCm39) missense possibly damaging 0.67
R7027:Or6c219 UTSW 10 129,781,041 (GRCm39) missense possibly damaging 0.60
R7222:Or6c219 UTSW 10 129,781,758 (GRCm39) missense probably damaging 1.00
R7406:Or6c219 UTSW 10 129,781,435 (GRCm39) missense probably benign 0.00
R8483:Or6c219 UTSW 10 129,780,998 (GRCm39) missense probably benign 0.02
R9306:Or6c219 UTSW 10 129,781,289 (GRCm39) missense probably damaging 1.00
R9752:Or6c219 UTSW 10 129,780,990 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- AGAACTCTGTGGCCCCTAGTAG -3'
(R):5'- GGCATGTTCAAAGAGTGACTTG -3'

Sequencing Primer
(F):5'- CTGGGAATGCAGACTGTA -3'
(R):5'- TGTTCAAAGAGTGACTTGAATGTTG -3'
Posted On 2016-12-15