Incidental Mutation 'IGL01592:Or6c69b'
ID 91611
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or6c69b
Ensembl Gene ENSMUSG00000069421
Gene Name olfactory receptor family 6 subfamily C member 69B
Synonyms GA_x6K02T2PULF-11470271-11469333, Olfr810, MOR113-4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # IGL01592
Quality Score
Status
Chromosome 10
Chromosomal Location 129626518-129627456 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 129627188 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 90 (I90T)
Ref Sequence ENSEMBL: ENSMUSP00000150364 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091986] [ENSMUST00000214206] [ENSMUST00000214878] [ENSMUST00000217283]
AlphaFold Q8VFH9
Predicted Effect probably damaging
Transcript: ENSMUST00000091986
AA Change: I90T

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000089612
Gene: ENSMUSG00000069421
AA Change: I90T

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 7.3e-50 PFAM
Pfam:7tm_1 39 288 5e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214206
AA Change: I90T

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000214878
AA Change: I90T

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000217283
AA Change: I90T

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 A G 12: 53,188,925 (GRCm39) D2113G probably damaging Het
Atf6b T A 17: 34,868,111 (GRCm39) V125E probably damaging Het
Cdan1 T A 2: 120,556,466 (GRCm39) Y653F probably damaging Het
Ces1d A G 8: 93,921,717 (GRCm39) probably benign Het
Dnah2 G T 11: 69,321,913 (GRCm39) N3802K probably benign Het
Dnah5 A G 15: 28,236,783 (GRCm39) I370V probably benign Het
Dpp10 T C 1: 123,262,099 (GRCm39) E761G probably damaging Het
Dusp19 A G 2: 80,447,825 (GRCm39) E33G probably damaging Het
E2f7 T A 10: 110,582,267 (GRCm39) D25E possibly damaging Het
E2f8 T C 7: 48,517,605 (GRCm39) T733A probably damaging Het
Golga1 T C 2: 38,953,294 (GRCm39) E32G probably damaging Het
Grip1 T A 10: 119,765,908 (GRCm39) V80E probably damaging Het
Igsf6 T C 7: 120,670,016 (GRCm39) Y42C probably damaging Het
Katna1 T G 10: 7,617,218 (GRCm39) M70R probably damaging Het
Limk2 T C 11: 3,309,052 (GRCm39) K102R probably benign Het
Lypla1 T A 1: 4,898,874 (GRCm39) probably null Het
Or2z9 T A 8: 72,854,356 (GRCm39) F251I probably damaging Het
Pgap1 G A 1: 54,560,470 (GRCm39) P444L probably damaging Het
Pigr G A 1: 130,776,795 (GRCm39) V657M probably damaging Het
Plscr1 T A 9: 92,148,803 (GRCm39) Y214* probably null Het
Polq A C 16: 36,855,212 (GRCm39) I436L probably benign Het
Ppfia2 T A 10: 106,671,909 (GRCm39) probably benign Het
Serpina12 A G 12: 104,004,381 (GRCm39) S84P probably damaging Het
Slc30a6 T A 17: 74,726,523 (GRCm39) probably benign Het
Trim38 A G 13: 23,975,410 (GRCm39) T450A possibly damaging Het
Ubqlnl A T 7: 103,799,496 (GRCm39) probably benign Het
Vmn2r24 A G 6: 123,764,445 (GRCm39) K441E probably benign Het
Wnt8a A G 18: 34,677,846 (GRCm39) T85A probably damaging Het
Other mutations in Or6c69b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02365:Or6c69b APN 10 129,627,404 (GRCm39) missense possibly damaging 0.81
IGL02508:Or6c69b APN 10 129,626,660 (GRCm39) missense probably benign 0.44
R0638:Or6c69b UTSW 10 129,627,101 (GRCm39) missense probably damaging 1.00
R0680:Or6c69b UTSW 10 129,626,687 (GRCm39) missense probably damaging 1.00
R0847:Or6c69b UTSW 10 129,627,327 (GRCm39) missense probably damaging 1.00
R1449:Or6c69b UTSW 10 129,626,723 (GRCm39) missense probably damaging 1.00
R1776:Or6c69b UTSW 10 129,627,000 (GRCm39) missense probably benign 0.00
R1938:Or6c69b UTSW 10 129,626,759 (GRCm39) missense probably damaging 1.00
R3836:Or6c69b UTSW 10 129,627,039 (GRCm39) missense probably benign 0.01
R4521:Or6c69b UTSW 10 129,627,050 (GRCm39) missense possibly damaging 0.58
R4816:Or6c69b UTSW 10 129,627,308 (GRCm39) missense probably damaging 1.00
R6287:Or6c69b UTSW 10 129,627,254 (GRCm39) missense probably damaging 1.00
R8080:Or6c69b UTSW 10 129,626,997 (GRCm39) missense probably benign 0.07
R8202:Or6c69b UTSW 10 129,626,518 (GRCm39) makesense probably null
R8696:Or6c69b UTSW 10 129,626,562 (GRCm39) missense possibly damaging 0.94
R9065:Or6c69b UTSW 10 129,626,727 (GRCm39) missense possibly damaging 0.79
R9313:Or6c69b UTSW 10 129,626,789 (GRCm39) missense probably damaging 1.00
R9667:Or6c69b UTSW 10 129,627,022 (GRCm39) missense probably damaging 0.99
R9707:Or6c69b UTSW 10 129,627,444 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-09