Incidental Mutation 'R5196:Or6c216'
ID 400265
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 042772-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R5196 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 129677977-129678909 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 129678650 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 87 (D87V)
Ref Sequence ENSEMBL: ENSMUSP00000145482 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057775] [ENSMUST00000203571] [ENSMUST00000205013]
AlphaFold Q8VG64
Predicted Effect possibly damaging
Transcript: ENSMUST00000057775
AA Change: D87V

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000053359
Gene: ENSMUSG00000049052
AA Change: D87V

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 2.3e-50 PFAM
Pfam:7tm_1 39 288 9.5e-25 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000203571
AA Change: D87V

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000145284
Gene: ENSMUSG00000049052
AA Change: D87V

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 2.3e-50 PFAM
Pfam:7tm_1 39 288 9.5e-25 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000205013
AA Change: D87V

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000145482
Gene: ENSMUSG00000049052
AA Change: D87V

DomainStartEndE-ValueType
Pfam:7tm_4 29 307 1.3e-44 PFAM
Pfam:7tm_1 39 288 4.1e-23 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 100% (62/62)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001O22Rik T C 2: 30,686,450 (GRCm39) T281A possibly damaging Het
4930503B20Rik A G 3: 146,352,018 (GRCm39) probably benign Het
6330409D20Rik T A 2: 32,630,552 (GRCm39) probably benign Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Amigo2 A G 15: 97,143,942 (GRCm39) F160S probably damaging Het
Arcn1 A T 9: 44,671,324 (GRCm39) L68M probably damaging Het
Arhgef25 A G 10: 127,020,978 (GRCm39) S303P probably damaging Het
Asph A T 4: 9,607,830 (GRCm39) S163T probably damaging Het
Birc6 T C 17: 74,913,136 (GRCm39) probably benign Het
Bltp3a A G 17: 28,075,737 (GRCm39) I5V probably benign Het
Ccm2 G A 11: 6,511,181 (GRCm39) probably benign Het
Cdc42bpa T C 1: 179,899,978 (GRCm39) V431A probably benign Het
Cdh20 T A 1: 110,065,730 (GRCm39) M668K probably damaging Het
Cfap43 A T 19: 47,814,364 (GRCm39) W157R probably damaging Het
Chrm5 T C 2: 112,310,729 (GRCm39) Y129C probably damaging Het
Chrna5 A G 9: 54,913,803 (GRCm39) I421V possibly damaging Het
Clk1 T A 1: 58,453,772 (GRCm39) T301S probably benign Het
Col6a3 G T 1: 90,744,260 (GRCm39) probably null Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Fbxw19 T C 9: 109,313,496 (GRCm39) Y234C probably benign Het
Fgd4 T A 16: 16,302,006 (GRCm39) N183I probably benign Het
Fnip2 T C 3: 79,479,845 (GRCm39) probably benign Het
Gask1a T G 9: 121,794,727 (GRCm39) S294A probably benign Het
Gm9847 T A 12: 14,545,016 (GRCm39) noncoding transcript Het
H2-T23 A G 17: 36,343,499 (GRCm39) probably null Het
Hdlbp T C 1: 93,347,915 (GRCm39) E613G probably damaging Het
Kat6a G A 8: 23,401,729 (GRCm39) R366H probably damaging Het
Kctd4 A G 14: 76,200,127 (GRCm39) T33A probably benign Het
Klrb1c T A 6: 128,757,262 (GRCm39) S268C probably benign Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lrrfip1 A G 1: 91,042,330 (GRCm39) E245G probably damaging Het
Mast3 A T 8: 71,240,889 (GRCm39) I220N probably damaging Het
Mfap3 A G 11: 57,420,639 (GRCm39) T207A probably damaging Het
Mtdh G T 15: 34,118,150 (GRCm39) K75N probably damaging Het
Mybpc1 A G 10: 88,372,213 (GRCm39) Y806H probably damaging Het
Ntng1 T C 3: 109,842,299 (GRCm39) D158G probably damaging Het
Odr4 T A 1: 150,258,140 (GRCm39) D165V probably damaging Het
Or5d46 A G 2: 88,170,092 (GRCm39) Y61C possibly damaging Het
Pask A G 1: 93,237,805 (GRCm39) probably benign Het
Pif1 G T 9: 65,495,374 (GRCm39) A95S probably benign Het
Plppr2 T C 9: 21,852,428 (GRCm39) F104S probably damaging Het
Prmt9 G A 8: 78,291,626 (GRCm39) V333M probably benign Het
Pten A T 19: 32,792,897 (GRCm39) M239L probably benign Het
Rb1cc1 A G 1: 6,304,454 (GRCm39) D67G probably damaging Het
Reg2 T A 6: 78,382,530 (GRCm39) L12* probably null Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Slc5a7 C A 17: 54,588,750 (GRCm39) probably null Het
Tcaf3 G T 6: 42,570,649 (GRCm39) R368S probably benign Het
Tfcp2 A G 15: 100,418,595 (GRCm39) V189A probably damaging Het
Wdr12 T C 1: 60,126,243 (GRCm39) S191G probably damaging Het
Zfp536 G A 7: 37,180,185 (GRCm39) R807W probably damaging Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably 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
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
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'- AGAATCCAGTTACCCAGGAGC -3'
(R):5'- AGATGACCCTCAGCTACAAATTCTG -3'

Sequencing Primer
(F):5'- TTACCCAGGAGCTGAGGAC -3'
(R):5'- TCAGCTACAAATTCTGATTTTCCTG -3'
Posted On 2016-07-06