Incidental Mutation 'R0277:Or6c70'
ID 65307
Institutional Source Beutler Lab
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
MMRRC Submission 038499-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R0277 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 129709692-129710624 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 129709936 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 230 (Q230L)
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: Q230L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000080106
Gene: ENSMUSG00000059134
AA Change: Q230L

DomainStartEndE-ValueType
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: Q230L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000216966
AA Change: Q230L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Meta Mutation Damage Score 0.3094 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 95.0%
  • 20x: 89.3%
Validation Efficiency 99% (111/112)
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: 109 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930533L02Rik A G 7: 124,917,815 (GRCm39) K69R unknown Het
Abca13 A C 11: 9,244,701 (GRCm39) D2188A probably benign Het
Acad11 T C 9: 104,001,224 (GRCm39) M708T probably damaging Het
Adam7 T C 14: 68,748,306 (GRCm39) probably null Het
Adgre1 T A 17: 57,751,060 (GRCm39) I578N probably benign Het
Agbl4 T C 4: 111,474,419 (GRCm39) S403P probably damaging Het
Ak3 A G 19: 29,025,192 (GRCm39) M13T possibly damaging Het
Ap2s1 T C 7: 16,481,305 (GRCm39) probably benign Het
Arhgef1 A T 7: 24,623,224 (GRCm39) probably benign Het
Arsk T C 13: 76,223,051 (GRCm39) N182S probably benign Het
Aspscr1 G A 11: 120,569,246 (GRCm39) V15I probably damaging Het
Asxl2 A G 12: 3,492,487 (GRCm39) Y24C probably damaging Het
Atp8b1 A G 18: 64,701,323 (GRCm39) F345S possibly damaging Het
Atp8b3 T C 10: 80,362,743 (GRCm39) K672E probably benign Het
Bltp1 T A 3: 36,997,331 (GRCm39) C1129* probably null Het
Bmp2k A G 5: 97,235,682 (GRCm39) probably benign Het
Casp6 T A 3: 129,704,172 (GRCm39) V86E probably benign Het
Cdca5 A G 19: 6,140,742 (GRCm39) E260G unknown Het
Cpb2 T A 14: 75,502,898 (GRCm39) V159D probably damaging Het
Cylc2 T A 4: 51,228,477 (GRCm39) S183T unknown Het
Dhtkd1 T A 2: 5,919,699 (GRCm39) M561L probably benign Het
Dync2h1 T C 9: 7,129,046 (GRCm39) D1823G probably benign Het
Efcab5 G A 11: 77,031,749 (GRCm39) R42W probably damaging Het
Erc1 T C 6: 119,597,289 (GRCm39) K1003E probably damaging Het
Ezr G A 17: 7,022,164 (GRCm39) Q105* probably null Het
Fam83d T A 2: 158,627,467 (GRCm39) D385E probably benign Het
Fbn2 A G 18: 58,178,389 (GRCm39) C1950R probably damaging Het
Fbxo32 A T 15: 58,047,605 (GRCm39) I236N probably damaging Het
Fcgbp G T 7: 27,784,918 (GRCm39) probably null Het
Foxe3 T C 4: 114,782,805 (GRCm39) N136D probably damaging Het
Fscn2 A T 11: 120,258,837 (GRCm39) I461F probably damaging Het
Gldc A G 19: 30,093,851 (GRCm39) I722T possibly damaging Het
Gm10717 T G 9: 3,025,619 (GRCm39) V68G possibly damaging Het
Gm4841 A G 18: 60,403,718 (GRCm39) L125S possibly damaging Het
Gnl3 A C 14: 30,735,384 (GRCm39) probably null Het
Gsto1 A T 19: 47,846,416 (GRCm39) I88F probably damaging Het
Gucy1b1 T A 3: 81,945,463 (GRCm39) probably null Het
Hhla1 C A 15: 65,820,352 (GRCm39) V133F probably benign Het
Hipk3 T A 2: 104,271,593 (GRCm39) L446F probably damaging Het
Hscb T C 5: 110,982,556 (GRCm39) E177G possibly damaging Het
Hsd17b6 T C 10: 127,827,274 (GRCm39) D266G probably benign Het
Ipo4 T C 14: 55,869,572 (GRCm39) S363G probably benign Het
Kcnip3 A G 2: 127,301,899 (GRCm39) probably benign Het
Klhl41 A G 2: 69,501,640 (GRCm39) Y367C probably damaging Het
Klk1b4 C G 7: 43,861,053 (GRCm39) P232R possibly damaging Het
Lcp2 A G 11: 34,004,322 (GRCm39) D53G probably damaging Het
Llgl2 A G 11: 115,741,546 (GRCm39) K559E probably damaging Het
Lrrc59 A C 11: 94,534,248 (GRCm39) T269P probably damaging Het
Mark1 A G 1: 184,677,149 (GRCm39) S34P possibly damaging Het
Megf11 G A 9: 64,598,632 (GRCm39) probably null Het
Mplkip A G 13: 17,871,565 (GRCm39) I159V possibly damaging Het
Muc4 C A 16: 32,755,690 (GRCm38) probably benign Het
Myo18b A G 5: 112,841,213 (GRCm39) probably benign Het
Myo9b T C 8: 71,808,596 (GRCm39) probably benign Het
Napg C T 18: 63,120,034 (GRCm39) R149C probably damaging Het
Ndrg3 A G 2: 156,776,855 (GRCm39) probably benign Het
Nfe2l3 T A 6: 51,434,448 (GRCm39) M336K probably benign Het
Nrxn1 A C 17: 91,008,170 (GRCm39) probably null Het
Nsun3 A T 16: 62,597,007 (GRCm39) probably benign Het
Nuak1 T C 10: 84,210,315 (GRCm39) E591G probably benign Het
Or10g1b T C 14: 52,627,846 (GRCm39) Y128C probably damaging Het
Or10s1 G A 9: 39,986,010 (GRCm39) V140I probably benign Het
Or1e17 A T 11: 73,831,773 (GRCm39) I234F probably benign Het
Or4k2 T C 14: 50,423,789 (GRCm39) N296S probably null Het
Or6d15 A T 6: 116,559,562 (GRCm39) V115E probably damaging Het
Or6z6 T A 7: 6,491,433 (GRCm39) M147L probably benign Het
Orc4 A T 2: 48,827,479 (GRCm39) V38E possibly damaging Het
Ovgp1 T C 3: 105,887,208 (GRCm39) probably benign Het
Palm3 T A 8: 84,755,349 (GRCm39) V287D probably damaging Het
Pde4dip T A 3: 97,751,028 (GRCm39) H62L probably benign Het
Pdk4 G T 6: 5,491,620 (GRCm39) P100Q probably damaging Het
Pdss2 T A 10: 43,248,172 (GRCm39) H225Q probably benign Het
Pkhd1 A T 1: 20,345,762 (GRCm39) D2755E probably benign Het
Prune2 A T 19: 17,098,753 (GRCm39) D1419V probably damaging Het
Pth2r A C 1: 65,427,775 (GRCm39) I483L probably benign Het
Qrsl1 A G 10: 43,772,003 (GRCm39) probably null Het
Rab11fip4 A G 11: 79,577,455 (GRCm39) H403R possibly damaging Het
Ralgapa1 A T 12: 55,724,023 (GRCm39) I1548N probably damaging Het
Ric8a T G 7: 140,437,813 (GRCm39) probably benign Het
Rsbn1 T C 3: 103,821,897 (GRCm39) F44S possibly damaging Het
Serpinc1 T A 1: 160,817,272 (GRCm39) M1K probably null Het
Sf3b1 T C 1: 55,058,416 (GRCm39) I58V probably damaging Het
Sh3d19 T A 3: 86,033,978 (GRCm39) M777K probably benign Het
Sipa1 A T 19: 5,704,093 (GRCm39) M743K probably benign Het
Skint5 T C 4: 113,794,818 (GRCm39) H255R probably benign Het
Slco6b1 A T 1: 96,916,398 (GRCm39) noncoding transcript Het
Slfn4 A T 11: 83,077,777 (GRCm39) R188S probably damaging Het
Sort1 T C 3: 108,231,908 (GRCm39) probably benign Het
Spg21 A T 9: 65,372,629 (GRCm39) K20N possibly damaging Het
Sptbn2 A T 19: 4,795,173 (GRCm39) I1544F probably benign Het
Srf T C 17: 46,860,415 (GRCm39) T456A possibly damaging Het
Ssbp2 T A 13: 91,712,715 (GRCm39) probably benign Het
Stx2 C T 5: 129,065,967 (GRCm39) V230I probably benign Het
Sv2b A T 7: 74,856,187 (GRCm39) D34E possibly damaging Het
Synpo2l A G 14: 20,711,856 (GRCm39) S255P probably damaging Het
Tbx15 C T 3: 99,259,707 (GRCm39) P526L probably damaging Het
Tenm4 C A 7: 96,344,157 (GRCm39) P250Q possibly damaging Het
Tgm1 C A 14: 55,948,384 (GRCm39) probably benign Het
Tgm1 T C 14: 55,950,109 (GRCm39) probably benign Het
Thsd7b A G 1: 130,123,000 (GRCm39) I1540V probably benign Het
Tnrc6c A G 11: 117,630,707 (GRCm39) K1023E probably damaging Het
Ube2l6 A T 2: 84,636,771 (GRCm39) probably null Het
Uty T A Y: 1,169,979 (GRCm39) I326F probably damaging Het
Wdfy4 T C 14: 32,805,742 (GRCm39) D1735G possibly damaging Het
Wnt11 A G 7: 98,496,590 (GRCm39) K177E probably damaging Het
Wnt5a A T 14: 28,235,225 (GRCm39) M70L possibly damaging Het
Wwc1 T A 11: 35,743,175 (GRCm39) E882V probably damaging Het
Zfp455 G T 13: 67,346,728 (GRCm39) probably null Het
Zmpste24 A G 4: 120,940,050 (GRCm39) Y199H 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
IGL02301:Or6c70 APN 10 129,709,948 (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
Predicted Primers
Posted On 2013-08-08