Incidental Mutation 'R0546:Or6c70'
ID 44851
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 038738-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R0546 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 129709692-129710624 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 129710407 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 73 (T73I)
Ref Sequence ENSEMBL: ENSMUSP00000150458 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081367] [ENSMUST00000213742] [ENSMUST00000216966]
AlphaFold Q7TRH4
Predicted Effect possibly damaging
Transcript: ENSMUST00000081367
AA Change: T73I

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000080106
Gene: ENSMUSG00000059134
AA Change: T73I

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 5.2e-47 PFAM
Pfam:7tm_1 39 288 1.5e-23 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213742
AA Change: T73I

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216966
AA Change: T73I

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
Meta Mutation Damage Score 0.2035 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 99% (74/75)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A G 6: 23,077,076 (GRCm39) probably null Het
Actn1 C T 12: 80,225,208 (GRCm39) R418Q probably benign Het
Adam39 G A 8: 41,279,468 (GRCm39) V620M probably damaging Het
Agr3 C A 12: 35,978,329 (GRCm39) T14K probably benign Het
Alpk2 T C 18: 65,439,788 (GRCm39) D1002G probably benign Het
Amz2 T A 11: 109,324,780 (GRCm39) N221K probably benign Het
Aox4 A G 1: 58,289,333 (GRCm39) E752G probably damaging Het
Ap2a1 C T 7: 44,554,132 (GRCm39) G500S probably damaging Het
Car5b G A X: 162,762,297 (GRCm39) R282C probably damaging Het
Ccdc112 A G 18: 46,424,139 (GRCm39) S200P possibly damaging Het
Ccdc18 A T 5: 108,322,830 (GRCm39) E643D probably benign Het
Ccdc180 A T 4: 45,904,597 (GRCm39) T398S possibly damaging Het
Cnp A G 11: 100,471,549 (GRCm39) Y397C probably damaging Het
Cpa4 T C 6: 30,580,962 (GRCm39) W184R probably damaging Het
Crebbp A T 16: 3,903,671 (GRCm39) I1856N probably damaging Het
Ctrl A G 8: 106,658,966 (GRCm39) I200T probably damaging Het
Cyfip1 C T 7: 55,572,564 (GRCm39) R934* probably null Het
Dennd5a A G 7: 109,520,633 (GRCm39) V408A probably benign Het
Dhfr G A 13: 92,504,692 (GRCm39) probably null Het
Dnajc6 A T 4: 101,492,388 (GRCm39) N740Y probably damaging Het
Fam110a T C 2: 151,812,732 (GRCm39) T13A probably benign Het
Fars2 G T 13: 36,388,569 (GRCm39) K19N probably benign Het
Fer1l6 A T 15: 58,430,257 (GRCm39) probably null Het
Gabra1 T A 11: 42,053,428 (GRCm39) T69S probably damaging Het
Galnt18 T G 7: 111,107,348 (GRCm39) N475T probably damaging Het
Gbp4 T C 5: 105,268,836 (GRCm39) Y439C probably damaging Het
Gpatch2l A G 12: 86,335,622 (GRCm39) *409W probably null Het
Hip1r T C 5: 124,137,114 (GRCm39) V658A possibly damaging Het
Hspg2 A G 4: 137,229,605 (GRCm39) D73G probably benign Het
Ifitm2 A G 7: 140,535,656 (GRCm39) V58A possibly damaging Het
Ift172 T C 5: 31,414,945 (GRCm39) D1359G probably benign Het
Ing1 A G 8: 11,607,031 (GRCm39) D41G probably damaging Het
Itgal C T 7: 126,909,486 (GRCm39) T446I probably benign Het
Itgav G T 2: 83,633,586 (GRCm39) M978I probably benign Het
Jazf1 A G 6: 52,754,681 (GRCm39) Y132H possibly damaging Het
Lgr4 T A 2: 109,829,766 (GRCm39) N211K probably damaging Het
Mgat4d A G 8: 84,082,350 (GRCm39) N100S possibly damaging Het
Mrgprb3 T C 7: 48,293,263 (GRCm39) Y96C probably damaging Het
Myh11 A C 16: 14,023,492 (GRCm39) L1562R probably damaging Het
Mylk G C 16: 34,699,845 (GRCm39) E403Q possibly damaging Het
Myo15a A G 11: 60,397,139 (GRCm39) Y2667C probably damaging Het
Or14j7 T A 17: 38,235,229 (GRCm39) C257* probably null Het
Or52ae7 A G 7: 103,119,907 (GRCm39) I220M possibly damaging Het
Or8k37 T A 2: 86,469,573 (GRCm39) T160S possibly damaging Het
Or8k38 C T 2: 86,488,235 (GRCm39) C189Y possibly damaging Het
Or9m2 T A 2: 87,820,816 (GRCm39) Y120* probably null Het
Paox G T 7: 139,711,591 (GRCm39) G148W probably damaging Het
Pkd1 T C 17: 24,799,112 (GRCm39) V2777A probably benign Het
Plod2 T A 9: 92,477,388 (GRCm39) V360E probably damaging Het
Prune2 T C 19: 16,998,030 (GRCm39) probably benign Het
Sbds G T 5: 130,282,919 (GRCm39) A3D possibly damaging Het
Sec23a T C 12: 59,031,953 (GRCm39) T426A probably benign Het
Sec31a T C 5: 100,551,929 (GRCm39) Y148C probably damaging Het
Shprh T A 10: 11,059,631 (GRCm39) probably benign Het
Slc16a7 A G 10: 125,066,742 (GRCm39) V299A probably benign Het
Smg8 T C 11: 86,974,439 (GRCm39) Y174C possibly damaging Het
Snx22 T A 9: 65,976,059 (GRCm39) Y58F probably damaging Het
Snx25 A G 8: 46,556,667 (GRCm39) Y308H probably benign Het
St3gal2 A G 8: 111,696,738 (GRCm39) probably null Het
Stab1 C T 14: 30,861,507 (GRCm39) R2500H possibly damaging Het
Steap4 T C 5: 8,025,870 (GRCm39) S144P probably damaging Het
Stfa3 T A 16: 36,272,619 (GRCm39) probably benign Het
Tmprss9 C A 10: 80,735,157 (GRCm39) Q1095K probably benign Het
Top2a A G 11: 98,890,052 (GRCm39) V1217A possibly damaging Het
Trhr2 A G 8: 123,085,228 (GRCm39) probably null Het
Trim7 A G 11: 48,736,336 (GRCm39) E23G probably damaging Het
Trpv3 A T 11: 73,188,013 (GRCm39) E788V probably damaging Het
Ttn A G 2: 76,575,863 (GRCm39) I25010T probably damaging Het
Ube2ql1 T C 13: 69,887,419 (GRCm39) H14R unknown Het
Uggt1 C T 1: 36,235,052 (GRCm39) R419H probably benign Het
Xpo4 A G 14: 57,850,731 (GRCm39) V391A probably benign Het
Zfhx3 A G 8: 109,520,819 (GRCm39) D647G probably damaging Het
Zfp354c A T 11: 50,706,457 (GRCm39) M206K probably benign Het
Zfp804a A G 2: 82,089,264 (GRCm39) N1031S possibly damaging Het
Zfp868 A G 8: 70,064,882 (GRCm39) V151A probably benign 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
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
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 PCR Primer
(F):5'- ATCAAGGCCAATAATCAGTGGTGGG -3'
(R):5'- TCCTTCTTGGACTGACAGACAATCCTC -3'

Sequencing Primer
(F):5'- GGACAAGCTGATGACAAACTTTACTG -3'
(R):5'- GGACTGACAGACAATCCTCAGTTAC -3'
Posted On 2013-06-11