Incidental Mutation 'R8080:Or6c69b'
ID 629294
Institutional Source Beutler Lab
Gene Symbol Or6c69b
Ensembl Gene ENSMUSG00000069421
Gene Name olfactory receptor family 6 subfamily C member 69B
Synonyms GA_x6K02T2PULF-11470271-11469333, Olfr810, MOR113-4
MMRRC Submission 067513-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R8080 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 129626518-129627456 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 129626997 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 154 (I154V)
Ref Sequence ENSEMBL: ENSMUSP00000150364 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091986] [ENSMUST00000214206] [ENSMUST00000214878] [ENSMUST00000217283]
AlphaFold Q8VFH9
Predicted Effect probably benign
Transcript: ENSMUST00000091986
AA Change: I154V

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000089612
Gene: ENSMUSG00000069421
AA Change: I154V

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 7.3e-50 PFAM
Pfam:7tm_1 39 288 5e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214206
AA Change: I154V

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000214878
AA Change: I154V

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000217283
AA Change: I154V

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 94.9%
Validation Efficiency 100% (64/64)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aloxe3 A G 11: 69,023,900 (GRCm39) Q277R probably damaging Het
Anapc5 T C 5: 122,945,401 (GRCm39) N226D probably damaging Het
Arb2a T A 13: 78,154,565 (GRCm39) L316Q probably damaging Het
Bcl2l11 T C 2: 127,970,586 (GRCm39) C12R probably damaging Het
Bpnt1 A G 1: 185,084,406 (GRCm39) T168A probably damaging Het
Brca2 A T 5: 150,463,357 (GRCm39) E1040D probably benign Het
Cdca2 G A 14: 67,915,004 (GRCm39) Q752* probably null Het
Cntn2 T C 1: 132,449,536 (GRCm39) D635G probably damaging Het
Cntnap5b A T 1: 99,999,928 (GRCm39) I229F probably benign Het
Ctr9 G A 7: 110,650,774 (GRCm39) E900K possibly damaging Het
Dmbt1 A G 7: 130,690,500 (GRCm39) Y911C unknown Het
Egflam T A 15: 7,427,561 (GRCm39) D2V probably benign Het
Enpep A T 3: 129,092,783 (GRCm39) N505K probably damaging Het
Fam13a A G 6: 58,933,790 (GRCm39) S267P probably damaging Het
Fancc G T 13: 63,550,837 (GRCm39) T12K Het
Fbxo3 A G 2: 103,864,012 (GRCm39) Y89C probably damaging Het
Garem2 A G 5: 30,313,385 (GRCm39) Y83C probably damaging Het
Gm17079 T C 14: 51,930,480 (GRCm39) T122A Het
Gm3696 A T 14: 18,435,071 (GRCm39) L71* probably null Het
Gm4559 C T 7: 141,827,553 (GRCm39) R183K unknown Het
Gmip A T 8: 70,268,736 (GRCm39) T454S possibly damaging Het
Helz2 T A 2: 180,880,055 (GRCm39) T554S probably damaging Het
Hoxc9 C T 15: 102,890,551 (GRCm39) T156M probably benign Het
Hrc A G 7: 44,986,262 (GRCm39) E471G probably damaging Het
Hydin A G 8: 111,261,863 (GRCm39) I2655V probably benign Het
Ighv1-64 T C 12: 115,471,463 (GRCm39) H18R probably benign Het
Jcad A G 18: 4,649,270 (GRCm39) Y47C probably benign Het
Jmjd4 A G 11: 59,341,179 (GRCm39) T37A probably benign Het
Kalrn C T 16: 33,796,038 (GRCm39) G2915S possibly damaging Het
Kdm5d T C Y: 910,742 (GRCm39) F285L probably benign Het
Lmna A G 3: 88,393,868 (GRCm39) F237L probably damaging Het
Med12l A G 3: 59,172,607 (GRCm39) K1788E probably damaging Het
Mrgprb1 T C 7: 48,096,658 (GRCm39) probably null Het
Myh1 T A 11: 67,102,228 (GRCm39) Y840N probably benign Het
Negr1 C A 3: 156,866,357 (GRCm39) A302E probably damaging Het
Nup188 T C 2: 30,227,045 (GRCm39) V1206A possibly damaging Het
Nup205 T C 6: 35,204,311 (GRCm39) L1399P probably damaging Het
Or13a20 T C 7: 140,232,387 (GRCm39) M165T probably benign Het
Or4a81 T A 2: 89,618,971 (GRCm39) I242F possibly damaging Het
Or5v1b G A 17: 37,841,555 (GRCm39) R229H probably benign Het
Or8c14-ps1 T C 9: 38,101,885 (GRCm39) L288S unknown Het
Pcdhb4 A G 18: 37,442,349 (GRCm39) D553G probably benign Het
Phip A G 9: 82,769,662 (GRCm39) L1147P probably damaging Het
Phlpp1 A G 1: 106,320,706 (GRCm39) D1567G probably benign Het
Pigz T C 16: 31,760,858 (GRCm39) C20R probably damaging Het
Plpp1 A G 13: 113,004,002 (GRCm39) K252R probably benign Het
Polr2a A T 11: 69,625,874 (GRCm39) S1759T unknown Het
Rbm42 G T 7: 30,345,136 (GRCm39) P212T unknown Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Slc35e1 G A 8: 73,246,030 (GRCm39) P134L Het
Slc9a3 A C 13: 74,314,146 (GRCm39) Q818P probably benign Het
St3gal4 T C 9: 35,017,617 (GRCm39) probably null Het
Stard3nl G T 13: 19,554,521 (GRCm39) A151E probably damaging Het
Syt9 T A 7: 107,035,997 (GRCm39) I338N probably benign Het
Ticrr A T 7: 79,334,012 (GRCm39) probably null Het
Tlr4 T A 4: 66,757,713 (GRCm39) Y169N probably damaging Het
Tnc A C 4: 63,894,706 (GRCm39) I1560S possibly damaging Het
Usp7 C A 16: 8,515,771 (GRCm39) D644Y probably benign Het
Utp20 A G 10: 88,618,577 (GRCm39) I1141T possibly damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r60 A G 7: 41,790,521 (GRCm39) M503V probably benign Het
Zfp384 T C 6: 125,013,521 (GRCm39) S530P unknown Het
Zfp600 T A 4: 146,133,182 (GRCm39) C617S unknown Het
Zfp819 A G 7: 43,267,148 (GRCm39) R544G probably damaging Het
Other mutations in Or6c69b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01592:Or6c69b APN 10 129,627,188 (GRCm39) missense probably damaging 0.98
IGL02365:Or6c69b APN 10 129,627,404 (GRCm39) missense possibly damaging 0.81
IGL02508:Or6c69b APN 10 129,626,660 (GRCm39) missense probably benign 0.44
R0638:Or6c69b UTSW 10 129,627,101 (GRCm39) missense probably damaging 1.00
R0680:Or6c69b UTSW 10 129,626,687 (GRCm39) missense probably damaging 1.00
R0847:Or6c69b UTSW 10 129,627,327 (GRCm39) missense probably damaging 1.00
R1449:Or6c69b UTSW 10 129,626,723 (GRCm39) missense probably damaging 1.00
R1776:Or6c69b UTSW 10 129,627,000 (GRCm39) missense probably benign 0.00
R1938:Or6c69b UTSW 10 129,626,759 (GRCm39) missense probably damaging 1.00
R3836:Or6c69b UTSW 10 129,627,039 (GRCm39) missense probably benign 0.01
R4521:Or6c69b UTSW 10 129,627,050 (GRCm39) missense possibly damaging 0.58
R4816:Or6c69b UTSW 10 129,627,308 (GRCm39) missense probably damaging 1.00
R6287:Or6c69b UTSW 10 129,627,254 (GRCm39) missense probably damaging 1.00
R8202:Or6c69b UTSW 10 129,626,518 (GRCm39) makesense probably null
R8696:Or6c69b UTSW 10 129,626,562 (GRCm39) missense possibly damaging 0.94
R9065:Or6c69b UTSW 10 129,626,727 (GRCm39) missense possibly damaging 0.79
R9313:Or6c69b UTSW 10 129,626,789 (GRCm39) missense probably damaging 1.00
R9667:Or6c69b UTSW 10 129,627,022 (GRCm39) missense probably damaging 0.99
R9707:Or6c69b UTSW 10 129,627,444 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AATGTAGGATACGATCACCATTACCAG -3'
(R):5'- TGGCAACAGGTGACAAAACC -3'

Sequencing Primer
(F):5'- GATACGATCACCATTACCAGTGTGAG -3'
(R):5'- CAGGTGACAAAACCATTTCCTATG -3'
Posted On 2020-06-30