Incidental Mutation 'R6499:Or6c216'
ID 519637
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
MMRRC Submission 044631-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R6499 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 129677977-129678909 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 129678453 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 153 (I153V)
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: I153V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000053359
Gene: ENSMUSG00000049052
AA Change: I153V

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: I153V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000145284
Gene: ENSMUSG00000049052
AA Change: I153V

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: I153V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000145482
Gene: ENSMUSG00000049052
AA Change: I153V

DomainStartEndE-ValueType
Pfam:7tm_4 29 307 1.3e-44 PFAM
Pfam:7tm_1 39 288 4.1e-23 PFAM
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.7%
Validation Efficiency 98% (43/44)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik C T 3: 137,774,561 (GRCm39) T1250M probably damaging Het
Actn1 C T 12: 80,215,191 (GRCm39) A857T possibly damaging Het
Adam2 C T 14: 66,296,239 (GRCm39) V207I probably damaging Het
Angpt2 T C 8: 18,744,533 (GRCm39) T404A probably benign Het
Ank3 T C 10: 69,827,574 (GRCm39) probably benign Het
Atosa C A 9: 74,930,930 (GRCm39) Q958K probably damaging Het
B4galt4 T A 16: 38,578,184 (GRCm39) D210E probably benign Het
Brinp3 A T 1: 146,777,431 (GRCm39) H626L possibly damaging Het
Ccna2 T G 3: 36,625,112 (GRCm39) D68A probably damaging Het
Cd163 G A 6: 124,281,703 (GRCm39) G2D probably benign Het
Chrm5 A T 2: 112,310,825 (GRCm39) V97D probably benign Het
Dctn5 G A 7: 121,734,320 (GRCm39) V55I probably benign Het
Dnm3 A T 1: 162,141,164 (GRCm39) I365N probably damaging Het
Esyt2 A G 12: 116,284,790 (GRCm39) D184G probably damaging Het
Ifi214 C A 1: 173,352,597 (GRCm39) K277N probably damaging Het
Il11ra1 C T 4: 41,765,412 (GRCm39) P169L probably benign Het
Inhbb C T 1: 119,345,069 (GRCm39) E407K probably damaging Het
Lama2 T A 10: 26,907,154 (GRCm39) T2336S probably damaging Het
Ldhb A T 6: 142,439,847 (GRCm39) V231E possibly damaging Het
Lrit2 T C 14: 36,790,767 (GRCm39) F149L probably damaging Het
Malrd1 T A 2: 15,936,500 (GRCm39) S1575T probably benign Het
Naip5 A G 13: 100,358,102 (GRCm39) C1045R probably benign Het
Nefl A G 14: 68,322,034 (GRCm39) E208G probably damaging Het
Oog4 A C 4: 143,164,548 (GRCm39) S328A probably damaging Het
Or1e1 T A 11: 73,245,011 (GRCm39) L144Q probably damaging Het
Or5p79 G T 7: 108,221,713 (GRCm39) M231I probably benign Het
Or7e168 A G 9: 19,719,847 (GRCm39) I78V probably benign Het
Pbrm1 A G 14: 30,783,466 (GRCm39) N528D probably damaging Het
Pls1 A G 9: 95,636,798 (GRCm39) I558T probably damaging Het
Polq T C 16: 36,881,189 (GRCm39) S839P probably benign Het
Psmg1 A G 16: 95,789,297 (GRCm39) F87L probably damaging Het
Ptprt A G 2: 161,376,507 (GRCm39) M1298T probably benign Het
Rbm27 T A 18: 42,470,076 (GRCm39) W958R probably damaging Het
Skint5 T G 4: 113,396,552 (GRCm39) D1207A unknown Het
Stx17 T A 4: 48,183,478 (GRCm39) probably null Het
Tas2r114 A T 6: 131,666,099 (GRCm39) *310R probably null Het
Tmem130 T A 5: 144,689,224 (GRCm39) N139I probably damaging Het
Trpc1 T C 9: 95,608,490 (GRCm39) E267G probably damaging Het
Trrap T A 5: 144,793,812 (GRCm39) M3398K probably damaging Het
Vrtn T G 12: 84,697,090 (GRCm39) D613E probably benign Het
Vsx1 G T 2: 150,530,441 (GRCm39) T147K probably benign Het
Wdr55 T C 18: 36,895,231 (GRCm39) V103A probably benign Het
Zfp712 A T 13: 67,200,400 (GRCm39) D28E probably benign 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
R6356:Or6c216 UTSW 10 129,678,477 (GRCm39) missense probably benign 0.14
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'- TCCTGATAAGCATTCTCTCAGGAG -3'

Sequencing Primer
(F):5'- CGTTGCTGAGCTGAAGGGAAC -3'
(R):5'- AGCATTCTCTCAGGAGATAGAAC -3'
Posted On 2018-06-06