Incidental Mutation 'IGL02301:Or6c70'
ID 290277
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or6c70
Ensembl Gene ENSMUSG00000059134
Gene Name olfactory receptor family 6 subfamily C member 70
Synonyms MOR113-8, MOR113-5, Olfr814, GA_x6K02T2PULF-11553313-11552381
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # IGL02301
Quality Score
Chromosome 10
Chromosomal Location 129709692-129710624 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 129709948 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 226 (F226S)
Ref Sequence ENSEMBL: ENSMUSP00000150458 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081367] [ENSMUST00000213742] [ENSMUST00000216966]
AlphaFold Q7TRH4
Predicted Effect probably damaging
Transcript: ENSMUST00000081367
AA Change: F226S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000080106
Gene: ENSMUSG00000059134
AA Change: F226S

Pfam:7tm_4 29 306 5.2e-47 PFAM
Pfam:7tm_1 39 288 1.5e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213742
AA Change: F226S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000216966
AA Change: F226S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap8l A G 17: 32,551,900 (GRCm39) probably benign Het
Alk T C 17: 72,181,171 (GRCm39) Q1373R probably damaging Het
Atf7ip2 T G 16: 10,028,911 (GRCm39) S148A probably benign Het
Bpi C T 2: 158,116,734 (GRCm39) S377F probably damaging Het
Ccni A T 5: 93,336,034 (GRCm39) C122S possibly damaging Het
Cd5l A G 3: 87,273,300 (GRCm39) R90G probably benign Het
Ceacam3 C T 7: 16,897,026 (GRCm39) S664F probably damaging Het
Clca3a2 A T 3: 144,512,133 (GRCm39) D534E probably damaging Het
Ep400 A T 5: 110,822,826 (GRCm39) S2524R probably damaging Het
Fhdc1 G A 3: 84,352,042 (GRCm39) A1061V possibly damaging Het
Gart A G 16: 91,418,725 (GRCm39) probably benign Het
Gsdmc4 A G 15: 63,767,113 (GRCm39) V219A probably benign Het
Hus1 T C 11: 8,946,915 (GRCm39) T261A probably benign Het
Lman2l A G 1: 36,482,624 (GRCm39) I84T probably damaging Het
Megf8 G A 7: 25,037,325 (GRCm39) V742M probably damaging Het
Myo1d A G 11: 80,567,679 (GRCm39) V267A probably benign Het
Notch2 A G 3: 98,048,870 (GRCm39) T1803A probably benign Het
Or1e17 T A 11: 73,831,894 (GRCm39) M274K possibly damaging Het
Or4f54 T A 2: 111,123,042 (GRCm39) M143K probably benign Het
Pate11 T C 9: 36,388,483 (GRCm39) probably benign Het
Pde5a G A 3: 122,554,534 (GRCm39) R208Q probably damaging Het
Pla2r1 T C 2: 60,282,780 (GRCm39) N745S probably benign Het
Ptgdr2 T A 19: 10,917,573 (GRCm39) I30N possibly damaging Het
Rap1gap2 G A 11: 74,298,195 (GRCm39) T415I probably damaging Het
Slc6a6 T C 6: 91,703,037 (GRCm39) Y137H probably benign Het
Sptbn1 A T 11: 30,092,129 (GRCm39) D532E probably damaging Het
Stk39 T C 2: 68,042,306 (GRCm39) D543G probably damaging Het
Trpc4 G A 3: 54,198,653 (GRCm39) V526M probably damaging Het
Trrap A G 5: 144,714,727 (GRCm39) I100V probably benign Het
Vmn1r-ps123 A C 13: 23,180,527 (GRCm39) noncoding transcript Het
Vwa5b2 G A 16: 20,423,540 (GRCm39) G1151D probably damaging Het
Zfp358 T A 8: 3,546,858 (GRCm39) I480N probably benign Het
Zfp423 T C 8: 88,508,202 (GRCm39) D714G probably damaging Het
Other mutations in Or6c70
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01831:Or6c70 APN 10 129,709,900 (GRCm39) missense probably damaging 1.00
IGL02045:Or6c70 APN 10 129,710,091 (GRCm39) missense probably benign 0.22
R0277:Or6c70 UTSW 10 129,709,936 (GRCm39) missense probably damaging 0.99
R0281:Or6c70 UTSW 10 129,710,415 (GRCm39) missense possibly damaging 0.88
R0323:Or6c70 UTSW 10 129,709,936 (GRCm39) missense probably damaging 0.99
R0394:Or6c70 UTSW 10 129,709,811 (GRCm39) missense probably benign 0.29
R0546:Or6c70 UTSW 10 129,710,407 (GRCm39) missense possibly damaging 0.94
R3813:Or6c70 UTSW 10 129,709,855 (GRCm39) missense probably damaging 1.00
R4086:Or6c70 UTSW 10 129,710,167 (GRCm39) missense possibly damaging 0.49
R4415:Or6c70 UTSW 10 129,709,826 (GRCm39) missense probably benign 0.00
R4416:Or6c70 UTSW 10 129,709,826 (GRCm39) missense probably benign 0.00
R4453:Or6c70 UTSW 10 129,710,530 (GRCm39) missense probably null 0.30
R5194:Or6c70 UTSW 10 129,709,967 (GRCm39) missense probably benign 0.00
R5306:Or6c70 UTSW 10 129,709,810 (GRCm39) missense probably damaging 0.97
R5362:Or6c70 UTSW 10 129,710,422 (GRCm39) missense probably damaging 1.00
R5609:Or6c70 UTSW 10 129,710,607 (GRCm39) missense probably benign 0.01
R5987:Or6c70 UTSW 10 129,710,390 (GRCm39) missense probably damaging 0.98
R6240:Or6c70 UTSW 10 129,710,546 (GRCm39) missense probably benign
R6896:Or6c70 UTSW 10 129,710,623 (GRCm39) start codon destroyed probably null 0.98
R7432:Or6c70 UTSW 10 129,709,719 (GRCm39) missense probably benign
R7489:Or6c70 UTSW 10 129,710,551 (GRCm39) missense probably damaging 1.00
R7652:Or6c70 UTSW 10 129,710,346 (GRCm39) missense probably damaging 0.99
R8316:Or6c70 UTSW 10 129,709,891 (GRCm39) missense probably damaging 1.00
R8725:Or6c70 UTSW 10 129,710,092 (GRCm39) missense probably damaging 1.00
R8727:Or6c70 UTSW 10 129,710,092 (GRCm39) missense probably damaging 1.00
R9089:Or6c70 UTSW 10 129,710,488 (GRCm39) missense probably damaging 1.00
R9538:Or6c70 UTSW 10 129,709,762 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16