Incidental Mutation 'R9306:Or6c219'
ID 705226
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R9306 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 129780973-129781929 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 129781289 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 99 (S99F)
Ref Sequence ENSEMBL: ENSMUSP00000145108 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074308] [ENSMUST00000205227] [ENSMUST00000215527]
AlphaFold Q8VG46
Predicted Effect probably damaging
Transcript: ENSMUST00000074308
AA Change: S214F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073918
Gene: ENSMUSG00000058071
AA Change: S214F

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 1.4e-47 PFAM
Pfam:7tm_1 39 287 3.5e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000205227
AA Change: S99F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145108
Gene: ENSMUSG00000058071
AA Change: S99F

DomainStartEndE-ValueType
Pfam:7tm_1 1 122 5e-13 PFAM
Pfam:7tm_4 1 123 8.7e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215527
AA Change: S214F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 100% (43/43)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acte1 G T 7: 143,434,902 (GRCm39) probably null Het
Adam18 G A 8: 25,136,420 (GRCm39) S367L possibly damaging Het
Alox12b A T 11: 69,060,396 (GRCm39) I651F possibly damaging Het
Arfgef2 A G 2: 166,723,188 (GRCm39) K1543E probably benign Het
Arhgap24 A G 5: 102,994,008 (GRCm39) I30V possibly damaging Het
Atad2 A T 15: 57,959,994 (GRCm39) Y1343* probably null Het
Clca3a1 A G 3: 144,730,339 (GRCm39) Y169H probably damaging Het
Cspg4b A G 13: 113,506,010 (GRCm39) T2380A unknown Het
Eno1b G A 18: 48,180,922 (GRCm39) V367I probably benign Het
Fbh1 T C 2: 11,772,387 (GRCm39) E98G probably benign Het
Fbxw14 A T 9: 109,100,280 (GRCm39) M458K probably benign Het
Galnt13 A T 2: 54,823,569 (GRCm39) I382F probably benign Het
Hoxa10 T C 6: 52,209,635 (GRCm39) T368A possibly damaging Het
Ism2 C T 12: 87,333,826 (GRCm39) C73Y probably benign Het
Kif15 T C 9: 122,807,056 (GRCm39) V264A probably damaging Het
Lars1 T C 18: 42,358,884 (GRCm39) probably null Het
Lmtk2 T A 5: 144,119,599 (GRCm39) H1353Q probably benign Het
Lrp1b A T 2: 40,518,762 (GRCm39) C157S possibly damaging Het
Map3k7cl A G 16: 87,391,149 (GRCm39) D91G possibly damaging Het
Mapk8ip1 A T 2: 92,219,428 (GRCm39) D134E probably benign Het
Meaf6 A T 4: 124,996,766 (GRCm39) T159S unknown Het
Moxd1 A G 10: 24,128,824 (GRCm39) probably benign Het
Mup8 T A 4: 60,219,682 (GRCm39) E195V possibly damaging Het
Nox4 A T 7: 86,896,781 (GRCm39) Q48L probably benign Het
Or1j19 T A 2: 36,677,407 (GRCm39) I290N probably damaging Het
Or52d3 T A 7: 104,229,128 (GRCm39) W92R probably damaging Het
Otop3 G T 11: 115,237,248 (GRCm39) V571L probably benign Het
Oxr1 A G 15: 41,686,861 (GRCm39) H581R possibly damaging Het
Pappa2 A T 1: 158,764,492 (GRCm39) F340I probably damaging Het
Pcdh10 G A 3: 45,335,804 (GRCm39) G706D probably benign Het
Pdia5 A T 16: 35,250,353 (GRCm39) V202D probably damaging Het
Pdpn G A 4: 143,000,601 (GRCm39) T77M probably damaging Het
Phf11 T A 14: 59,482,294 (GRCm39) D153V probably damaging Het
Pira1 T A 7: 3,740,360 (GRCm39) Q287L probably benign Het
Ptprq T C 10: 107,422,599 (GRCm39) T1598A probably benign Het
Slc27a6 C T 18: 58,742,953 (GRCm39) T547I possibly damaging Het
Smoc1 G A 12: 81,214,430 (GRCm39) V282I possibly damaging Het
Sppl3 C A 5: 115,212,922 (GRCm39) N50K probably benign Het
Taar5 T C 10: 23,846,781 (GRCm39) S60P possibly damaging Het
Tgtp2 G T 11: 48,949,865 (GRCm39) Q236K probably benign Het
Timd5 A C 11: 46,419,519 (GRCm39) M112L probably benign Het
Vmn1r8 T A 6: 57,013,713 (GRCm39) W255R probably benign Het
Vmn2r11 C T 5: 109,196,831 (GRCm39) C547Y probably damaging Het
Vmn2r96 A G 17: 18,803,226 (GRCm39) T187A probably benign Het
Vwa1 G A 4: 155,855,328 (GRCm39) P262S 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
R5799:Or6c219 UTSW 10 129,781,780 (GRCm39) missense possibly damaging 0.95
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
R9752:Or6c219 UTSW 10 129,780,990 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- GCTGGTTCCTCAGGGTATAAATG -3'
(R):5'- GCTCTTGGGACTCAAACTGG -3'

Sequencing Primer
(F):5'- CCACAGAGGTGTTGAGCAC -3'
(R):5'- GACTCAAACTGGATTTCTGTGC -3'
Posted On 2022-03-25