Incidental Mutation 'IGL02824:Or6c69'
ID 361112
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or6c69
Ensembl Gene ENSMUSG00000063715
Gene Name olfactory receptor family 6 subfamily C member 69
Synonyms MOR113-1, Olfr816, GA_x6K02T2PULF-11590830-11589892
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # IGL02824
Quality Score
Status
Chromosome 10
Chromosomal Location 129747207-129748145 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 129747565 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 194 (E194G)
Ref Sequence ENSEMBL: ENSMUSP00000149515 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071605] [ENSMUST00000213438]
AlphaFold Q8VFU2
Predicted Effect probably damaging
Transcript: ENSMUST00000071605
AA Change: E194G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000071534
Gene: ENSMUSG00000063715
AA Change: E194G

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 6.9e-50 PFAM
Pfam:7tm_1 39 288 1.2e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213438
AA Change: E194G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213618
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530002B09Rik T C 4: 122,596,112 (GRCm39) probably benign Het
Aadat A T 8: 60,969,056 (GRCm39) K93N probably benign Het
Abcb5 A G 12: 118,854,420 (GRCm39) F832L probably benign Het
Abl1 A T 2: 31,690,831 (GRCm39) K783N probably damaging Het
Agxt2 A G 15: 10,393,891 (GRCm39) E423G probably null Het
Alkbh8 T C 9: 3,368,021 (GRCm39) probably null Het
Ankrd36 T C 11: 5,524,246 (GRCm39) I171T possibly damaging Het
Ap1b1 G T 11: 4,983,738 (GRCm39) A664S possibly damaging Het
Cd19 T C 7: 126,009,826 (GRCm39) D446G probably damaging Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Cyp4f39 T C 17: 32,687,659 (GRCm39) probably null Het
Ehbp1l1 T C 19: 5,769,326 (GRCm39) D659G probably benign Het
Eif3l A G 15: 78,960,023 (GRCm39) probably null Het
F5 T C 1: 164,021,916 (GRCm39) S1464P probably benign Het
Fut9 T C 4: 25,620,037 (GRCm39) N259S probably damaging Het
Glb1l3 A T 9: 26,761,405 (GRCm39) I209N probably damaging Het
Gpd2 A G 2: 57,254,339 (GRCm39) E671G probably null Het
Heatr5b T C 17: 79,081,109 (GRCm39) D1381G probably damaging Het
Ifi206 A T 1: 173,309,438 (GRCm39) I186K possibly damaging Het
Izumo1 A G 7: 45,275,072 (GRCm39) D236G probably benign Het
Klhl32 T A 4: 24,682,237 (GRCm39) R149* probably null Het
Lrrn1 T C 6: 107,545,495 (GRCm39) F431S possibly damaging Het
Man2b2 C T 5: 36,979,195 (GRCm39) V282I probably benign Het
Mboat2 A G 12: 24,996,585 (GRCm39) K164R probably benign Het
Mgarp T C 3: 51,296,508 (GRCm39) T165A probably damaging Het
Midn T G 10: 79,989,486 (GRCm39) I43S possibly damaging Het
Ndn A G 7: 61,998,582 (GRCm39) I143V possibly damaging Het
Or8h9 T C 2: 86,789,337 (GRCm39) D155G probably benign Het
Pcnx4 T C 12: 72,602,345 (GRCm39) V278A probably benign Het
Prr30 A G 14: 101,435,954 (GRCm39) F203L probably benign Het
Scd4 T C 19: 44,329,698 (GRCm39) L223P probably damaging Het
Setdb1 T C 3: 95,247,215 (GRCm39) probably benign Het
Smtn A G 11: 3,482,658 (GRCm39) Y105H probably damaging Het
Spata19 A G 9: 27,309,025 (GRCm39) I54M possibly damaging Het
Syk A T 13: 52,777,319 (GRCm39) probably benign Het
Trim44 A G 2: 102,230,540 (GRCm39) F164L possibly damaging Het
Zfp503 C T 14: 22,035,162 (GRCm39) G585S possibly damaging Het
Other mutations in Or6c69
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01448:Or6c69 APN 10 129,748,114 (GRCm39) missense possibly damaging 0.89
IGL01650:Or6c69 APN 10 129,747,550 (GRCm39) missense probably benign 0.00
IGL01766:Or6c69 APN 10 129,747,649 (GRCm39) missense probably damaging 1.00
IGL02738:Or6c69 APN 10 129,747,200 (GRCm39) utr 3 prime probably benign
R0401:Or6c69 UTSW 10 129,747,785 (GRCm39) missense probably benign 0.18
R0688:Or6c69 UTSW 10 129,747,752 (GRCm39) missense probably damaging 0.99
R1589:Or6c69 UTSW 10 129,747,550 (GRCm39) missense probably benign 0.00
R1744:Or6c69 UTSW 10 129,747,262 (GRCm39) missense probably damaging 1.00
R2049:Or6c69 UTSW 10 129,748,036 (GRCm39) missense probably benign 0.30
R3763:Or6c69 UTSW 10 129,747,314 (GRCm39) missense probably damaging 1.00
R3952:Or6c69 UTSW 10 129,747,505 (GRCm39) missense probably benign 0.00
R3971:Or6c69 UTSW 10 129,747,742 (GRCm39) missense probably benign 0.01
R4557:Or6c69 UTSW 10 129,747,398 (GRCm39) missense probably damaging 1.00
R5538:Or6c69 UTSW 10 129,747,871 (GRCm39) missense probably benign 0.13
R6127:Or6c69 UTSW 10 129,747,284 (GRCm39) missense probably damaging 1.00
R6227:Or6c69 UTSW 10 129,747,536 (GRCm39) missense probably damaging 1.00
R6394:Or6c69 UTSW 10 129,747,789 (GRCm39) missense probably damaging 1.00
R6707:Or6c69 UTSW 10 129,747,608 (GRCm39) missense probably benign 0.02
R7257:Or6c69 UTSW 10 129,748,156 (GRCm39) start gained probably benign
R7258:Or6c69 UTSW 10 129,748,156 (GRCm39) start gained probably benign
R7260:Or6c69 UTSW 10 129,748,156 (GRCm39) start gained probably benign
R7409:Or6c69 UTSW 10 129,748,120 (GRCm39) missense possibly damaging 0.74
R7539:Or6c69 UTSW 10 129,747,932 (GRCm39) missense probably damaging 1.00
R7782:Or6c69 UTSW 10 129,747,392 (GRCm39) missense probably damaging 1.00
R7984:Or6c69 UTSW 10 129,747,941 (GRCm39) missense probably benign 0.00
R8879:Or6c69 UTSW 10 129,747,731 (GRCm39) missense probably damaging 1.00
R9533:Or6c69 UTSW 10 129,747,404 (GRCm39) missense probably benign 0.20
R9717:Or6c69 UTSW 10 129,748,048 (GRCm39) missense probably damaging 1.00
X0019:Or6c69 UTSW 10 129,747,964 (GRCm39) missense probably damaging 1.00
Z1191:Or6c69 UTSW 10 129,747,826 (GRCm39) missense possibly damaging 0.94
Posted On 2015-12-18