Incidental Mutation 'R9707:Or6c69b'
ID 729854
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R9707 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 129626518-129627456 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 129627444 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 5 (T5A)
Ref Sequence ENSEMBL: ENSMUSP00000150364 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091986] [ENSMUST00000214206] [ENSMUST00000214878] [ENSMUST00000217283]
AlphaFold Q8VFH9
Predicted Effect probably damaging
Transcript: ENSMUST00000091986
AA Change: T5A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000089612
Gene: ENSMUSG00000069421
AA Change: T5A

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 7.3e-50 PFAM
Pfam:7tm_1 39 288 5e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214206
AA Change: T5A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000214878
AA Change: T5A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000217283
AA Change: T5A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ambra1 G A 2: 91,640,476 (GRCm39) R635H probably damaging Het
Amz1 T C 5: 140,733,949 (GRCm39) V175A possibly damaging Het
Arsj T C 3: 126,232,160 (GRCm39) I302T possibly damaging Het
Asxl3 A G 18: 22,656,304 (GRCm39) E1438G probably benign Het
BC016579 C T 16: 45,460,760 (GRCm39) E103K probably damaging Het
Ccdc54 T A 16: 50,411,163 (GRCm39) K34N possibly damaging Het
Chac2 T C 11: 30,929,572 (GRCm39) D55G possibly damaging Het
Cts3 T A 13: 61,714,649 (GRCm39) I219F possibly damaging Het
Des A G 1: 75,337,533 (GRCm39) M158V possibly damaging Het
Dohh T C 10: 81,223,565 (GRCm39) F206S probably damaging Het
Dst T C 1: 34,228,934 (GRCm39) S2176P probably benign Het
Ecpas C T 4: 58,824,816 (GRCm39) probably null Het
Epb41l2 G A 10: 25,378,235 (GRCm39) V836M probably damaging Het
Foxc1 A T 13: 31,991,882 (GRCm39) E231V probably damaging Het
Ighd T A 12: 113,378,108 (GRCm39) N164Y Het
Ighv1-53 A T 12: 115,122,035 (GRCm39) Y113* probably null Het
Ildr1 A G 16: 36,529,892 (GRCm39) D93G probably damaging Het
Krt79 T G 15: 101,839,196 (GRCm39) E424D probably benign Het
Lrp1 T C 10: 127,408,414 (GRCm39) E1754G probably benign Het
Mbd4 T A 6: 115,826,559 (GRCm39) H144L probably benign Het
Mcm7 C A 5: 138,170,000 (GRCm39) A7S probably benign Het
Mmp9 T A 2: 164,794,605 (GRCm39) N532K possibly damaging Het
Msr1 T G 8: 40,076,988 (GRCm39) E207D probably benign Het
Neurl4 A T 11: 69,799,679 (GRCm39) D994V probably damaging Het
Or1e35 A G 11: 73,798,090 (GRCm39) V76A possibly damaging Het
Or8s5 C T 15: 98,238,154 (GRCm39) V239I probably benign Het
Pcdhgb6 T C 18: 37,876,768 (GRCm39) I492T possibly damaging Het
Pde4c A G 8: 71,202,701 (GRCm39) D669G probably benign Het
Phf3 C A 1: 30,868,923 (GRCm39) probably null Het
Ptpn12 T A 5: 21,207,620 (GRCm39) T279S probably damaging Het
Rbbp6 A T 7: 122,589,061 (GRCm39) T287S probably damaging Het
Slc22a21 T C 11: 53,851,186 (GRCm39) N192S probably benign Het
Slc46a3 G T 5: 147,821,022 (GRCm39) H377N probably benign Het
Smg9 G T 7: 24,102,869 (GRCm39) R16L probably damaging Het
Spmip2 A G 3: 79,313,167 (GRCm39) I80M probably damaging Het
Synj1 A G 16: 90,758,300 (GRCm39) V848A possibly damaging Het
Taf7 A T 18: 37,776,053 (GRCm39) S171R probably damaging Het
Trav7-3 A G 14: 53,681,189 (GRCm39) E77G probably benign Het
Usp16 T C 16: 87,263,235 (GRCm39) S146P probably benign Het
Vmn1r22 A T 6: 57,877,890 (GRCm39) I29K probably benign Het
Zfp236 A G 18: 82,664,328 (GRCm39) C486R probably damaging Het
Zfp329 T C 7: 12,544,129 (GRCm39) Q465R probably benign 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
R8080:Or6c69b UTSW 10 129,626,997 (GRCm39) missense probably benign 0.07
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
Predicted Primers PCR Primer
(F):5'- AGCAATTTGGGGATGCATGTAG -3'
(R):5'- TTGCTCTGTCTGAAAACTGGC -3'

Sequencing Primer
(F):5'- TGCATGTAGTAGTGTAGGAAAACTC -3'
(R):5'- ACTGGCTTTTTAAATGTTGATGGTAC -3'
Posted On 2022-10-06