Incidental Mutation 'IGL01697:Or6c8b'
ID 104299
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or6c8b
Ensembl Gene ENSMUSG00000056853
Gene Name olfactory receptor family 6 subfamily C member 8B
Synonyms Olfr765, MOR115-4, GA_x6K02T2PULF-10732607-10731678
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # IGL01697
Quality Score
Status
Chromosome 10
Chromosomal Location 128882001-128882930 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 128882371 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 187 (C187F)
Ref Sequence ENSEMBL: ENSMUSP00000150725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071559] [ENSMUST00000216460]
AlphaFold Q7TRI6
Predicted Effect probably damaging
Transcript: ENSMUST00000071559
AA Change: C187F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000071490
Gene: ENSMUSG00000056853
AA Change: C187F

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 1.4e-49 PFAM
Pfam:7tm_1 39 288 7.8e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216460
AA Change: C187F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430015G10Rik T A 4: 156,203,613 (GRCm39) probably benign Het
Arid2 A C 15: 96,259,453 (GRCm39) probably null Het
Cadm1 C A 9: 47,761,622 (GRCm39) D435E probably damaging Het
Dagla A G 19: 10,248,562 (GRCm39) F33L probably benign Het
Edrf1 A G 7: 133,245,459 (GRCm39) H199R probably benign Het
F5 T A 1: 164,021,621 (GRCm39) N1365K probably benign Het
Gipc2 T G 3: 151,843,245 (GRCm39) I131L probably benign Het
Gpc1 C T 1: 92,786,132 (GRCm39) S507F possibly damaging Het
Grid1 A G 14: 35,031,214 (GRCm39) D269G probably benign Het
Ighv12-3 A T 12: 114,330,573 (GRCm39) M1K probably null Het
Kif5b T C 18: 6,226,871 (GRCm39) H129R possibly damaging Het
Lipo3 A T 19: 33,536,965 (GRCm39) C252S probably damaging Het
Mast4 A C 13: 102,904,401 (GRCm39) N645K probably damaging Het
Megf9 T A 4: 70,351,709 (GRCm39) T471S possibly damaging Het
Mmrn1 A G 6: 60,953,477 (GRCm39) D586G possibly damaging Het
Ninl A T 2: 150,781,867 (GRCm39) L1206Q probably damaging Het
Oog2 T A 4: 143,921,754 (GRCm39) N221K possibly damaging Het
Or13a17 T C 7: 140,271,565 (GRCm39) V249A possibly damaging Het
Or5b96 T A 19: 12,867,831 (GRCm39) T37S probably benign Het
Pik3ap1 G A 19: 41,313,018 (GRCm39) A365V probably damaging Het
Ppwd1 T C 13: 104,356,972 (GRCm39) E181G probably benign Het
Scaf11 A C 15: 96,321,504 (GRCm39) probably benign Het
Skic3 C T 13: 76,276,852 (GRCm39) L479F probably benign Het
Skint7 T A 4: 111,837,654 (GRCm39) probably benign Het
Sox14 T C 9: 99,757,716 (GRCm39) I8V probably benign Het
Spata31f3 T A 4: 42,874,163 (GRCm39) M2L probably benign Het
Stim1 A T 7: 102,075,176 (GRCm39) probably benign Het
Ttll3 T C 6: 113,376,690 (GRCm39) S357P probably benign Het
Vmn1r178 T A 7: 23,593,114 (GRCm39) I54N probably damaging Het
Zdhhc2 T C 8: 40,920,460 (GRCm39) probably benign Het
Other mutations in Or6c8b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01335:Or6c8b APN 10 128,882,380 (GRCm39) missense probably benign 0.06
R0313:Or6c8b UTSW 10 128,882,695 (GRCm39) missense possibly damaging 0.61
R0346:Or6c8b UTSW 10 128,882,342 (GRCm39) missense possibly damaging 0.90
R1114:Or6c8b UTSW 10 128,882,711 (GRCm39) missense possibly damaging 0.95
R1157:Or6c8b UTSW 10 128,882,027 (GRCm39) missense probably benign 0.35
R2351:Or6c8b UTSW 10 128,882,797 (GRCm39) missense probably benign
R5119:Or6c8b UTSW 10 128,882,711 (GRCm39) missense possibly damaging 0.95
R5531:Or6c8b UTSW 10 128,882,433 (GRCm39) missense probably damaging 1.00
R5540:Or6c8b UTSW 10 128,882,364 (GRCm39) missense probably damaging 0.96
R5756:Or6c8b UTSW 10 128,882,095 (GRCm39) missense probably benign 0.04
R6011:Or6c8b UTSW 10 128,882,508 (GRCm39) missense probably benign
R7021:Or6c8b UTSW 10 128,882,899 (GRCm39) missense probably damaging 0.99
R7257:Or6c8b UTSW 10 128,882,324 (GRCm39) missense probably benign 0.13
R7330:Or6c8b UTSW 10 128,882,333 (GRCm39) missense probably damaging 0.97
R9235:Or6c8b UTSW 10 128,882,051 (GRCm39) missense probably benign 0.04
R9335:Or6c8b UTSW 10 128,882,614 (GRCm39) missense probably damaging 1.00
R9594:Or6c8b UTSW 10 128,882,354 (GRCm39) missense probably benign 0.31
Posted On 2014-01-21