Incidental Mutation 'R1449:Or6c69b'
ID 159149
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 039504-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R1449 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 129626518-129627456 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 129626723 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 245 (V245G)
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: V245G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000089612
Gene: ENSMUSG00000069421
AA Change: V245G

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: V245G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000214878
AA Change: V245G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000217283
AA Change: V245G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.9%
  • 10x: 94.7%
  • 20x: 87.4%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik A G 4: 137,182,666 (GRCm39) N274D possibly damaging Het
6430571L13Rik T A 9: 107,219,689 (GRCm39) N47K probably damaging Het
Aasdh C T 5: 77,034,136 (GRCm39) A472T probably benign Het
Abca13 A G 11: 9,248,580 (GRCm39) T2776A probably damaging Het
Adamts10 T A 17: 33,764,613 (GRCm39) V711D probably damaging Het
Adrb3 G A 8: 27,717,415 (GRCm39) R345C probably damaging Het
Ak7 T C 12: 105,708,520 (GRCm39) V325A possibly damaging Het
Armc6 G A 8: 70,677,943 (GRCm39) L129F probably benign Het
Bend6 T C 1: 33,917,424 (GRCm39) N10S probably benign Het
Bmpr1b T C 3: 141,577,134 (GRCm39) E59G possibly damaging Het
Brd3 A G 2: 27,340,263 (GRCm39) probably null Het
Brd3 A G 2: 27,347,028 (GRCm39) Y369H probably damaging Het
Cacna1e C T 1: 154,361,408 (GRCm39) probably null Het
Camk4 A G 18: 33,072,528 (GRCm39) D27G probably damaging Het
Camkk1 T G 11: 72,924,710 (GRCm39) S308A probably damaging Het
Catsperb A G 12: 101,554,456 (GRCm39) T717A probably benign Het
Cdh23 A T 10: 60,212,730 (GRCm39) S1563R probably damaging Het
Cep44 A T 8: 56,993,985 (GRCm39) S197R probably benign Het
Col3a1 T A 1: 45,360,771 (GRCm39) I67N unknown Het
Dcaf12l1 T C X: 43,878,304 (GRCm39) T165A probably benign Het
Dicer1 T C 12: 104,695,502 (GRCm39) Y143C possibly damaging Het
Dlg5 A G 14: 24,185,711 (GRCm39) I1898T possibly damaging Het
Dnah1 T C 14: 30,985,908 (GRCm39) N3762D probably damaging Het
Dscaml1 A T 9: 45,653,521 (GRCm39) T1382S possibly damaging Het
Entpd3 A T 9: 120,395,555 (GRCm39) R513W probably damaging Het
Foxred1 A G 9: 35,120,738 (GRCm39) S132P probably damaging Het
Ftsj3 T C 11: 106,143,826 (GRCm39) I273V probably benign Het
Hsd17b7 C T 1: 169,787,251 (GRCm39) probably null Het
Iars1 T A 13: 49,887,186 (GRCm39) V1253D probably damaging Het
Iqsec1 T A 6: 90,667,790 (GRCm39) K216* probably null Het
Itga7 A G 10: 128,789,370 (GRCm39) D971G probably benign Het
Kcnk2 G A 1: 189,072,223 (GRCm39) S35L probably benign Het
Kif13a T C 13: 46,966,212 (GRCm39) Y402C probably damaging Het
Lamc1 A G 1: 153,126,241 (GRCm39) S484P probably benign Het
Lap3 T C 5: 45,666,861 (GRCm39) probably null Het
Lhx8 G T 3: 154,033,742 (GRCm39) S46* probably null Het
Lin7a T C 10: 107,159,813 (GRCm39) S42P probably damaging Het
Lrba G A 3: 86,261,585 (GRCm39) R1513Q probably damaging Het
Maml2 C A 9: 13,531,980 (GRCm39) P398Q possibly damaging Het
Mast2 T C 4: 116,166,210 (GRCm39) I1201V probably damaging Het
Mmp20 A T 9: 7,642,769 (GRCm39) D201V probably damaging Het
Morn5 T A 2: 35,947,092 (GRCm39) C123* probably null Het
Mrpl4 A G 9: 20,918,807 (GRCm39) K175E possibly damaging Het
Nav3 A T 10: 109,689,372 (GRCm39) S302T probably benign Het
Ndrg2 T C 14: 52,145,591 (GRCm39) Y217C probably damaging Het
Nfx1 A G 4: 40,976,803 (GRCm39) D159G probably damaging Het
Nlrp9b A T 7: 19,757,089 (GRCm39) T109S possibly damaging Het
Npepps A G 11: 97,097,980 (GRCm39) Y909H probably benign Het
Or10g1 A G 14: 52,648,024 (GRCm39) C102R probably damaging Het
Or11g7 A G 14: 50,691,378 (GRCm39) N290D probably damaging Het
Or51a25 A T 7: 102,373,397 (GRCm39) F100Y probably damaging Het
Or6c211 T A 10: 129,506,238 (GRCm39) D50V probably damaging Het
Pcdh1 T C 18: 38,322,929 (GRCm39) H968R probably damaging Het
Pde1b T A 15: 103,433,470 (GRCm39) I296N probably damaging Het
Phldb1 T A 9: 44,627,930 (GRCm39) T172S probably benign Het
Plxdc2 T C 2: 16,665,592 (GRCm39) V215A possibly damaging Het
Poln A G 5: 34,171,682 (GRCm39) I695T probably damaging Het
Pou6f2 G T 13: 18,347,000 (GRCm39) Q31K probably damaging Het
Psd T A 19: 46,313,250 (GRCm39) Y40F probably damaging Het
Rnf126 T C 10: 79,597,448 (GRCm39) N155D probably benign Het
Rpl36-ps3 C A 12: 12,962,032 (GRCm39) noncoding transcript Het
Rrp15 C A 1: 186,468,465 (GRCm39) V184F possibly damaging Het
Rslcan18 G T 13: 67,250,164 (GRCm39) L24M possibly damaging Het
Sall1 A G 8: 89,759,111 (GRCm39) I331T probably benign Het
Slamf7 A T 1: 171,468,606 (GRCm39) N95K possibly damaging Het
Slc1a6 T C 10: 78,635,951 (GRCm39) Y339H probably damaging Het
Slc39a8 A G 3: 135,532,446 (GRCm39) N72D probably benign Het
Slf1 A G 13: 77,231,568 (GRCm39) S604P probably damaging Het
Slfn4 C T 11: 83,079,819 (GRCm39) T110M probably benign Het
Tnpo1 T C 13: 99,015,220 (GRCm39) T116A probably damaging Het
Tor1b T C 2: 30,845,893 (GRCm39) I190T probably damaging Het
Ttn C A 2: 76,800,138 (GRCm39) E357* probably null Het
Tubg2 G T 11: 101,047,699 (GRCm39) E95* probably null Het
Ubap2 A G 4: 41,209,351 (GRCm39) probably null Het
Ube2i T C 17: 25,487,538 (GRCm39) D67G possibly damaging Het
Ubxn11 A G 4: 133,852,203 (GRCm39) E50G probably damaging Het
Wnk1 A G 6: 119,929,779 (GRCm39) V1246A probably damaging Het
Zcchc7 A G 4: 44,929,124 (GRCm39) T38A possibly damaging Het
Zfp236 A G 18: 82,664,130 (GRCm39) S552P 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
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
R9707:Or6c69b UTSW 10 129,627,444 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCACTTGCTGATTCCTCAAGGTGTAG -3'
(R):5'- ACCCTGGTGGATACTCACCTGAAG -3'

Sequencing Primer
(F):5'- CTGATTCCTCAAGGTGTAGATAAAAG -3'
(R):5'- GATATGTAGCCATCTGCAAGC -3'
Posted On 2014-03-14