Incidental Mutation 'R6356:Or6c216'
ID 513027
Institutional Source Beutler Lab
Gene Symbol Or6c216
Ensembl Gene ENSMUSG00000049052
Gene Name olfactory receptor family 6 subfamily C member 216
Synonyms GA_x6K02T2PULF-11521598-11520666, Olfr812, MOR110-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R6356 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 129677977-129678909 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 129678477 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 145 (S145C)
Ref Sequence ENSEMBL: ENSMUSP00000145482 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057775] [ENSMUST00000203571] [ENSMUST00000205013]
AlphaFold Q8VG64
Predicted Effect probably benign
Transcript: ENSMUST00000057775
AA Change: S145C

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000053359
Gene: ENSMUSG00000049052
AA Change: S145C

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 2.3e-50 PFAM
Pfam:7tm_1 39 288 9.5e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203571
AA Change: S145C

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000145284
Gene: ENSMUSG00000049052
AA Change: S145C

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 2.3e-50 PFAM
Pfam:7tm_1 39 288 9.5e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205013
AA Change: S145C

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000145482
Gene: ENSMUSG00000049052
AA Change: S145C

DomainStartEndE-ValueType
Pfam:7tm_4 29 307 1.3e-44 PFAM
Pfam:7tm_1 39 288 4.1e-23 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.4%
  • 20x: 91.9%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A T 9: 57,161,292 (GRCm39) S152T probably benign Het
Aass A G 6: 23,093,901 (GRCm39) V140A probably damaging Het
Add1 A G 5: 34,776,740 (GRCm39) N32S probably null Het
Agap2 T C 10: 126,918,865 (GRCm39) S414P unknown Het
Arhgef38 A G 3: 132,846,638 (GRCm39) F376L probably benign Het
Cd22 A T 7: 30,577,127 (GRCm39) I60N probably damaging Het
Cdh23 T A 10: 60,274,626 (GRCm39) D488V probably damaging Het
Cfap251 G A 5: 123,392,729 (GRCm39) probably benign Het
Cox16 T G 12: 81,519,115 (GRCm39) D148A probably damaging Het
Dclre1b G A 3: 103,715,471 (GRCm39) T9I probably damaging Het
Dennd4c T C 4: 86,743,686 (GRCm39) V1176A probably benign Het
Echdc1 A C 10: 29,220,522 (GRCm39) probably null Het
Efcab3 A G 11: 104,784,533 (GRCm39) K2772E probably benign Het
Efnb3 G A 11: 69,446,966 (GRCm39) A248V probably benign Het
Glud1 A G 14: 34,033,173 (GRCm39) R107G probably benign Het
Gtf2h4 A G 17: 35,980,647 (GRCm39) S279P probably damaging Het
Hectd1 A G 12: 51,791,402 (GRCm39) C2579R probably damaging Het
Igkv15-103 A G 6: 68,414,441 (GRCm39) probably benign Het
Ivl CCTGCTGCTGCTGCT CCTGCTGCTGCT 3: 92,479,217 (GRCm39) probably benign Het
Krtap5-2 T C 7: 141,729,119 (GRCm39) probably benign Het
Lcn11 G T 2: 25,668,132 (GRCm39) G97* probably null Het
Lrrtm3 G A 10: 63,765,943 (GRCm39) T548M probably benign Het
Map3k2 A T 18: 32,345,023 (GRCm39) T283S probably damaging Het
Mast4 T C 13: 102,872,493 (GRCm39) K2292E possibly damaging Het
Med23 G T 10: 24,764,311 (GRCm39) C98F probably damaging Het
Morc1 T A 16: 48,257,652 (GRCm39) F26Y probably damaging Het
Muc5ac T A 7: 141,366,416 (GRCm39) M2160K probably benign Het
Myocd T C 11: 65,109,396 (GRCm39) probably null Het
Nup160 T A 2: 90,542,279 (GRCm39) probably null Het
Obi1 A G 14: 104,716,313 (GRCm39) S687P probably damaging Het
Olr1 A T 6: 129,470,522 (GRCm39) L215Q probably benign Het
Or5ak23 T A 2: 85,245,031 (GRCm39) Q64L probably damaging Het
Pik3c2a T C 7: 115,947,440 (GRCm39) K1414R possibly damaging Het
Ppfibp2 T C 7: 107,280,976 (GRCm39) V96A probably benign Het
Prim1 T A 10: 127,859,704 (GRCm39) Y299N probably damaging Het
Rsf1 T C 7: 97,311,141 (GRCm39) S624P probably benign Het
Samd4b A T 7: 28,101,018 (GRCm39) I687N probably damaging Het
Sbf2 A T 7: 109,971,830 (GRCm39) F801L probably damaging Het
St6gal2 T C 17: 55,789,014 (GRCm39) I16T probably damaging Het
Tiam2 CGGG CGGGG 17: 3,464,897 (GRCm39) probably null Het
Trim8 T G 19: 46,503,797 (GRCm39) S450A probably benign Het
Trp53bp2 A G 1: 182,276,562 (GRCm39) T848A probably benign Het
Vmn2r24 A G 6: 123,783,368 (GRCm39) S523G possibly damaging Het
Vmn2r52 T A 7: 9,902,926 (GRCm39) M501L probably benign Het
Vmn2r68 C T 7: 84,883,048 (GRCm39) V235M possibly damaging Het
Zfhx3 G A 8: 109,673,251 (GRCm39) V1434M probably damaging Het
Zmym5 A T 14: 57,031,622 (GRCm39) N495K possibly damaging Het
Other mutations in Or6c216
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Or6c216 APN 10 129,678,342 (GRCm39) missense probably damaging 1.00
IGL01637:Or6c216 APN 10 129,678,479 (GRCm39) missense probably benign 0.14
IGL02035:Or6c216 APN 10 129,678,659 (GRCm39) missense possibly damaging 0.95
IGL02546:Or6c216 APN 10 129,678,416 (GRCm39) missense probably damaging 0.97
R1902:Or6c216 UTSW 10 129,678,375 (GRCm39) missense probably benign
R4583:Or6c216 UTSW 10 129,678,344 (GRCm39) missense probably damaging 1.00
R4598:Or6c216 UTSW 10 129,678,864 (GRCm39) missense possibly damaging 0.92
R4714:Or6c216 UTSW 10 129,678,814 (GRCm39) missense probably damaging 0.99
R5196:Or6c216 UTSW 10 129,678,650 (GRCm39) missense possibly damaging 0.90
R5953:Or6c216 UTSW 10 129,678,483 (GRCm39) missense probably benign 0.22
R6311:Or6c216 UTSW 10 129,678,776 (GRCm39) missense possibly damaging 0.88
R6499:Or6c216 UTSW 10 129,678,453 (GRCm39) missense probably benign 0.00
R9149:Or6c216 UTSW 10 129,678,482 (GRCm39) missense probably damaging 0.99
R9606:Or6c216 UTSW 10 129,678,625 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TCTCCGTTGCTGAGCTGAAG -3'
(R):5'- CCTGATAAGCATTCTCTCAGGAG -3'

Sequencing Primer
(F):5'- CGTTGCTGAGCTGAAGGGAAC -3'
(R):5'- AGCATTCTCTCAGGAGATAGAAC -3'
Posted On 2018-04-27