Incidental Mutation 'IGL01298:Or6c3b'
ID 73200
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or6c3b
Ensembl Gene ENSMUSG00000046041
Gene Name olfactory receptor family 6 subfamily C member 3B
Synonyms GA_x6K02T2PULF-11370664-11369738, MOR111-3, Olfr803
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # IGL01298
Quality Score
Chromosome 10
Chromosomal Location 129690621-129694286 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 129692029 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 4 (Y4C)
Ref Sequence ENSEMBL: ENSMUSP00000145400 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056736] [ENSMUST00000203785] [ENSMUST00000204641] [ENSMUST00000217576]
AlphaFold Q8VFI3
Predicted Effect probably damaging
Transcript: ENSMUST00000056736
AA Change: Y4C

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000055860
Gene: ENSMUSG00000046041
AA Change: Y4C

Pfam:7tm_4 28 306 6.2e-51 PFAM
Pfam:7TM_GPCR_Srsx 33 303 3.8e-6 PFAM
Pfam:7tm_1 39 288 3.2e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157522
Predicted Effect probably benign
Transcript: ENSMUST00000203785
SMART Domains Protein: ENSMUSP00000144741
Gene: ENSMUSG00000093866

Pfam:7tm_4 28 305 6.8e-56 PFAM
Pfam:7tm_1 39 288 2.5e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000204641
AA Change: Y4C

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000145400
Gene: ENSMUSG00000046041
AA Change: Y4C

Pfam:7tm_4 29 307 2.9e-49 PFAM
Pfam:7tm_1 39 288 8.3e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000217576
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adora2a G T 10: 75,333,492 (GRCm38) W263C probably damaging Het
Agtpbp1 G A 13: 59,504,226 (GRCm38) H424Y possibly damaging Het
Angpt2 T G 8: 18,710,528 (GRCm38) N186T probably benign Het
Ank2 A G 3: 126,959,720 (GRCm38) V304A possibly damaging Het
Atg3 T C 16: 45,171,673 (GRCm38) M88T possibly damaging Het
Baz1a G T 12: 54,954,809 (GRCm38) P142Q probably damaging Het
Btbd1 G T 7: 81,794,307 (GRCm38) probably null Het
Cacnb3 T C 15: 98,639,853 (GRCm38) Y70H probably damaging Het
Cd4 G A 6: 124,879,378 (GRCm38) T50I probably benign Het
Cyp7a1 A T 4: 6,275,517 (GRCm38) W19R probably damaging Het
Dock10 T A 1: 80,531,245 (GRCm38) I1610F probably damaging Het
Gm11444 C A 11: 85,848,094 (GRCm38) D58Y unknown Het
Gm7168 A T 17: 13,949,858 (GRCm38) T496S probably benign Het
Gpc5 A G 14: 115,399,188 (GRCm38) S428G probably benign Het
Haus8 T C 8: 71,253,113 (GRCm38) E309G probably damaging Het
Ice1 A G 13: 70,604,904 (GRCm38) L1021P possibly damaging Het
Krtap14 A T 16: 88,825,727 (GRCm38) H121Q probably benign Het
Nwd1 T C 8: 72,662,331 (GRCm38) V170A probably benign Het
Or1j10 T A 2: 36,377,448 (GRCm38) M224K probably benign Het
Or8g24 G A 9: 39,078,724 (GRCm38) T7I possibly damaging Het
Pfpl T C 19: 12,428,673 (GRCm38) M96T possibly damaging Het
Pramel5 A G 4: 144,271,162 (GRCm38) probably benign Het
Proc T C 18: 32,123,552 (GRCm38) N354S probably benign Het
Prss40 T G 1: 34,560,766 (GRCm38) I47L probably benign Het
Tmprss7 T C 16: 45,664,175 (GRCm38) R541G probably benign Het
Togaram2 T C 17: 71,716,513 (GRCm38) V788A possibly damaging Het
Trbv19 T C 6: 41,178,904 (GRCm38) Y70H probably damaging Het
Ttk C T 9: 83,865,142 (GRCm38) S678L probably benign Het
Vmn2r85 T C 10: 130,418,821 (GRCm38) T665A probably benign Het
Other mutations in Or6c3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00922:Or6c3b APN 10 129,691,454 (GRCm38) missense probably benign 0.00
IGL02008:Or6c3b APN 10 129,692,018 (GRCm38) missense probably benign 0.02
IGL02166:Or6c3b APN 10 129,691,913 (GRCm38) missense probably benign 0.12
IGL02598:Or6c3b APN 10 129,691,273 (GRCm38) missense possibly damaging 0.89
IGL03158:Or6c3b APN 10 129,691,718 (GRCm38) missense probably benign 0.01
IGL03393:Or6c3b APN 10 129,691,278 (GRCm38) missense probably damaging 0.99
R2246:Or6c3b UTSW 10 129,691,943 (GRCm38) missense probably damaging 1.00
R3749:Or6c3b UTSW 10 129,691,961 (GRCm38) missense probably benign
R5060:Or6c3b UTSW 10 129,691,830 (GRCm38) missense probably benign
R5116:Or6c3b UTSW 10 129,691,397 (GRCm38) missense probably damaging 1.00
R5253:Or6c3b UTSW 10 129,691,732 (GRCm38) missense probably damaging 0.99
R6166:Or6c3b UTSW 10 129,691,279 (GRCm38) missense probably damaging 1.00
R6543:Or6c3b UTSW 10 129,691,990 (GRCm38) missense probably benign 0.09
R6787:Or6c3b UTSW 10 129,691,522 (GRCm38) missense possibly damaging 0.88
R6828:Or6c3b UTSW 10 129,691,994 (GRCm38) missense probably damaging 1.00
R7284:Or6c3b UTSW 10 129,691,351 (GRCm38) missense probably benign
R7510:Or6c3b UTSW 10 129,691,920 (GRCm38) missense probably damaging 1.00
R8488:Or6c3b UTSW 10 129,691,474 (GRCm38) missense probably damaging 1.00
R8887:Or6c3b UTSW 10 129,691,503 (GRCm38) nonsense probably null
R9257:Or6c3b UTSW 10 129,691,134 (GRCm38) missense probably benign 0.01
R9323:Or6c3b UTSW 10 129,691,960 (GRCm38) missense probably benign 0.42
Posted On 2013-10-07