Incidental Mutation 'IGL01448:Or6c69'
ID 84494
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: 0.080) question?
Stock # IGL01448
Quality Score
Status
Chromosome 10
Chromosomal Location 129747207-129748145 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 129748114 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 11 (I11T)
Ref Sequence ENSEMBL: ENSMUSP00000149515 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071605] [ENSMUST00000213438]
AlphaFold Q8VFU2
Predicted Effect possibly damaging
Transcript: ENSMUST00000071605
AA Change: I11T

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000071534
Gene: ENSMUSG00000063715
AA Change: I11T

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 6.9e-50 PFAM
Pfam:7tm_1 39 288 1.2e-24 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213438
AA Change: I11T

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020A23Rik A T 2: 130,247,767 (GRCm39) E75D possibly damaging Het
1700084J12Rik A G 15: 33,405,779 (GRCm39) probably benign Het
2610303G11Rik T A 9: 98,068,762 (GRCm39) noncoding transcript Het
4931414P19Rik T C 14: 54,823,417 (GRCm39) D320G possibly damaging Het
Adamts6 G A 13: 104,433,672 (GRCm39) E34K probably damaging Het
Alms1 T A 6: 85,654,881 (GRCm39) N3142K possibly damaging Het
Anapc7 G A 5: 122,566,276 (GRCm39) A62T probably damaging Het
Atp8b3 G A 10: 80,356,256 (GRCm39) P1152L probably benign Het
Cc2d2a C T 5: 43,841,527 (GRCm39) T181I possibly damaging Het
Celsr2 A G 3: 108,300,555 (GRCm39) L2835P probably damaging Het
Ctns A T 11: 73,079,548 (GRCm39) V99D possibly damaging Het
Dchs1 T C 7: 105,421,134 (GRCm39) R429G probably damaging Het
Ddx11 T C 17: 66,441,132 (GRCm39) V218A probably damaging Het
Eftud2 G A 11: 102,756,389 (GRCm39) probably benign Het
Erich1 G T 8: 14,128,853 (GRCm39) T29N possibly damaging Het
Exosc8 T C 3: 54,636,686 (GRCm39) E215G probably damaging Het
Fam184a G T 10: 53,575,045 (GRCm39) A188E probably benign Het
Fign A G 2: 63,810,032 (GRCm39) S413P probably damaging Het
Fkbp6 A G 5: 135,378,550 (GRCm39) S33P probably damaging Het
Glb1 A G 9: 114,279,745 (GRCm39) probably benign Het
H2-Q1 T C 17: 35,542,437 (GRCm39) probably benign Het
Helz2 T C 2: 180,875,770 (GRCm39) T1575A probably damaging Het
Il18r1 A G 1: 40,513,890 (GRCm39) E32G probably damaging Het
Ints5 C T 19: 8,872,851 (GRCm39) P270L possibly damaging Het
Itga7 G T 10: 128,785,337 (GRCm39) E847* probably null Het
Kcns3 A C 12: 11,141,644 (GRCm39) S352A possibly damaging Het
Kiz A G 2: 146,705,721 (GRCm39) K94E probably benign Het
Lin7b C T 7: 45,018,624 (GRCm39) V12M probably damaging Het
Myo18b A T 5: 112,959,570 (GRCm39) I1409N probably damaging Het
Myo5b A G 18: 74,777,161 (GRCm39) H407R probably damaging Het
Nelfa T C 5: 34,056,146 (GRCm39) T506A probably damaging Het
Or10p21 A G 10: 128,847,729 (GRCm39) T192A probably damaging Het
Or4d5 A T 9: 40,012,378 (GRCm39) M136K probably damaging Het
Or5p72 T A 7: 108,022,235 (GRCm39) Y152* probably null Het
Pclo A C 5: 14,726,408 (GRCm39) probably benign Het
Pes1 G A 11: 3,927,979 (GRCm39) E544K possibly damaging Het
Rabgap1l A G 1: 160,568,315 (GRCm39) probably benign Het
Rapgef2 T C 3: 78,976,244 (GRCm39) M1521V probably benign Het
Rapgef2 C T 3: 79,011,269 (GRCm39) probably null Het
Reln A G 5: 22,245,403 (GRCm39) V735A probably benign Het
Slc2a4 A G 11: 69,835,902 (GRCm39) S316P possibly damaging Het
Smarce1 C T 11: 99,101,013 (GRCm39) G373E possibly damaging Het
Spata31d1a T A 13: 59,849,373 (GRCm39) R918S probably benign Het
St3gal4 T C 9: 34,963,627 (GRCm39) K227R probably benign Het
Stra6l T A 4: 45,864,864 (GRCm39) probably null Het
Stxbp5l T C 16: 37,036,341 (GRCm39) I425V probably damaging Het
Tcaf2 T C 6: 42,607,262 (GRCm39) T231A probably benign Het
Tiparp G T 3: 65,460,030 (GRCm39) G442* probably null Het
Tnks A G 8: 35,307,136 (GRCm39) Y1138H probably damaging Het
Vezt T A 10: 93,832,719 (GRCm39) I231F probably damaging Het
Vmn2r4 A T 3: 64,313,816 (GRCm39) N388K probably damaging Het
Zbed3 A G 13: 95,473,142 (GRCm39) K189E possibly damaging Het
Zfp512b T C 2: 181,229,578 (GRCm39) T625A possibly damaging Het
Zfp827 A T 8: 79,787,362 (GRCm39) Q176L possibly damaging Het
Other mutations in Or6c69
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02824:Or6c69 APN 10 129,747,565 (GRCm39) missense probably damaging 1.00
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 2013-11-11