Incidental Mutation 'IGL01637:Or6c216'
ID 93029
Institutional Source Australian Phenomics Network (link to record)
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: 0.051) question?
Stock # IGL01637
Quality Score
Status
Chromosome 10
Chromosomal Location 129677977-129678909 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 129678479 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 144 (L144P)
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: L144P

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000053359
Gene: ENSMUSG00000049052
AA Change: L144P

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: L144P

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000145284
Gene: ENSMUSG00000049052
AA Change: L144P

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: L144P

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000145482
Gene: ENSMUSG00000049052
AA Change: L144P

DomainStartEndE-ValueType
Pfam:7tm_4 29 307 1.3e-44 PFAM
Pfam:7tm_1 39 288 4.1e-23 PFAM
Coding Region Coverage
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn4 A T 7: 28,604,109 (GRCm39) I384N probably damaging Het
Adsl G T 15: 80,832,901 (GRCm39) Q51H probably null Het
Apcdd1 A G 18: 63,070,357 (GRCm39) E208G probably damaging Het
Arrdc4 G A 7: 68,394,580 (GRCm39) R155* probably null Het
Atp9b T C 18: 80,799,670 (GRCm39) E823G probably benign Het
Bmp1 A G 14: 70,729,901 (GRCm39) W468R probably damaging Het
C6 A G 15: 4,789,399 (GRCm39) I281M possibly damaging Het
Ccdc88b T C 19: 6,824,078 (GRCm39) T1392A probably benign Het
Dhx34 G T 7: 15,939,398 (GRCm39) S665Y probably damaging Het
Dock1 A T 7: 134,739,542 (GRCm39) probably null Het
Dpp7 T C 2: 25,244,625 (GRCm39) N252S probably benign Het
Dyrk2 A G 10: 118,696,412 (GRCm39) V282A probably damaging Het
Edrf1 T C 7: 133,252,254 (GRCm39) L401P probably damaging Het
Epc1 A G 18: 6,439,724 (GRCm39) V150A probably benign Het
Fam170a A T 18: 50,414,734 (GRCm39) M127L possibly damaging Het
Gabrg1 T A 5: 70,934,548 (GRCm39) T277S probably damaging Het
Galntl5 T C 5: 25,394,823 (GRCm39) probably benign Het
Gbp2b A G 3: 142,304,073 (GRCm39) N56S probably damaging Het
Gfm2 T A 13: 97,286,917 (GRCm39) V172E probably damaging Het
Gm10419 T C 5: 108,520,224 (GRCm39) probably benign Het
Gm7293 A G 9: 51,534,906 (GRCm39) noncoding transcript Het
Gstm3 T C 3: 107,874,949 (GRCm39) E101G probably damaging Het
Ifnlr1 T C 4: 135,413,856 (GRCm39) W2R possibly damaging Het
Ighv13-1 A T 12: 114,231,353 (GRCm39) probably benign Het
Ighv7-1 T A 12: 113,860,123 (GRCm39) I90F possibly damaging Het
Itga2b A G 11: 102,346,409 (GRCm39) L1009P probably damaging Het
Kif1a A G 1: 92,967,575 (GRCm39) V1112A possibly damaging Het
Kif5a A T 10: 127,081,237 (GRCm39) D232E possibly damaging Het
Klb G A 5: 65,533,022 (GRCm39) probably null Het
Lrriq1 G A 10: 103,051,489 (GRCm39) A421V probably benign Het
Mdga1 G A 17: 30,058,845 (GRCm39) R721C probably damaging Het
Mrpl48 G T 7: 100,199,739 (GRCm39) probably benign Het
Myo18b T A 5: 112,988,495 (GRCm39) R1030S possibly damaging Het
Nf1 T A 11: 79,437,946 (GRCm39) H2101Q probably damaging Het
Nlrp3 C A 11: 59,440,204 (GRCm39) L594I probably damaging Het
Notch2 C T 3: 98,053,376 (GRCm39) T2013I probably damaging Het
Or2ah1 A T 2: 85,653,332 (GRCm39) T6S probably benign Het
Or2y3 G A 17: 38,392,994 (GRCm39) L292F possibly damaging Het
Or52s1 C A 7: 102,861,384 (GRCm39) R95S probably benign Het
Or7g27 T C 9: 19,250,260 (GRCm39) F168S probably damaging Het
Panx3 T C 9: 37,575,352 (GRCm39) D170G probably damaging Het
Pclo A G 5: 14,590,048 (GRCm39) S783G unknown Het
Pde3b T A 7: 114,126,136 (GRCm39) L790* probably null Het
Pik3r2 T C 8: 71,224,992 (GRCm39) probably benign Het
Rassf4 A G 6: 116,618,651 (GRCm39) F211L probably damaging Het
Rbl2 C T 8: 91,833,066 (GRCm39) P666S probably benign Het
Rnf123 A G 9: 107,935,437 (GRCm39) F979L probably damaging Het
Rock2 T A 12: 17,015,172 (GRCm39) D788E probably benign Het
Serpina3b A G 12: 104,099,216 (GRCm39) T244A probably benign Het
Setd1b T C 5: 123,286,576 (GRCm39) S541P unknown Het
Slc12a4 T C 8: 106,687,339 (GRCm39) D60G possibly damaging Het
Stac2 T C 11: 97,932,180 (GRCm39) E241G probably benign Het
Tafa3 C T 3: 104,680,395 (GRCm39) V75M probably damaging Het
Tas2r115 A G 6: 132,714,592 (GRCm39) Y120H probably damaging Het
Tmtc2 A T 10: 105,205,946 (GRCm39) F450I probably benign Het
Txnl1 A T 18: 63,807,262 (GRCm39) I198N probably damaging Het
Ubr2 A T 17: 47,267,580 (GRCm39) M1049K probably damaging Het
Ugt2b5 T C 5: 87,287,759 (GRCm39) E136G probably benign Het
Unc13b C T 4: 43,241,066 (GRCm39) T3623I probably damaging Het
Usp13 T A 3: 32,973,213 (GRCm39) S797T probably benign Het
Vmn1r173 A T 7: 23,402,373 (GRCm39) T203S probably damaging Het
Vwf T A 6: 125,622,699 (GRCm39) I1718N probably damaging Het
Zfr A G 15: 12,159,732 (GRCm39) H676R probably benign Het
Other mutations in Or6c216
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Or6c216 APN 10 129,678,342 (GRCm39) missense probably damaging 1.00
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
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
Posted On 2013-12-09