Incidental Mutation 'R6997:Tnfrsf11b'
ID 544310
Institutional Source Beutler Lab
Gene Symbol Tnfrsf11b
Ensembl Gene ENSMUSG00000063727
Gene Name tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin)
Synonyms OPG, OCIF, TR1, osteoclastogenesis inhibitory factor, Opg
MMRRC Submission 045103-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # R6997 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 54114014-54141700 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 54115770 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 276 (L276F)
Ref Sequence ENSEMBL: ENSMUSP00000078705 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079772]
AlphaFold O08712
PDB Structure Crystal structure of mouse RANKL-OPG complex [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000079772
AA Change: L276F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000078705
Gene: ENSMUSG00000063727
AA Change: L276F

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
TNFR 24 62 1.04e-2 SMART
TNFR 65 105 1.5e-8 SMART
TNFR 107 142 2.19e-10 SMART
TNFR 145 185 7.63e-1 SMART
DEATH 270 365 1.01e-9 SMART
Meta Mutation Damage Score 0.1131 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 97% (58/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein is an osteoblast-secreted decoy receptor that functions as a negative regulator of bone resorption. This protein specifically binds to its ligand, osteoprotegerin ligand, both of which are key extracellular regulators of osteoclast development. Studies of the mouse counterpart also suggest that this protein and its ligand play a role in lymph-node organogenesis and vascular calcification. Alternatively spliced transcript variants of this gene have been reported, but their full length nature has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygote null mice have abnormal bone remodeling that results in severe osteoperosis with increased risk of fractures and growth retardation. Progressive hearing loss also results due to abnormal remodeling of the otic capsule. [provided by MGI curators]
Allele List at MGI

All alleles(4) : Targeted(4)

Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 T C 8: 25,171,539 (GRCm39) Y764C probably benign Het
Atxn1 C T 13: 45,721,095 (GRCm39) V267M probably benign Het
Cadps T A 14: 12,505,793 (GRCm38) H759L possibly damaging Het
Calcoco2 GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC 11: 95,990,808 (GRCm39) probably benign Het
Caprin2 A G 6: 148,779,474 (GRCm39) L111P probably damaging Het
Ccl8 A T 11: 82,006,865 (GRCm39) D26V possibly damaging Het
Cdh19 T C 1: 110,882,596 (GRCm39) probably benign Het
Cnga3 C A 1: 37,283,965 (GRCm39) H89Q probably benign Het
Cnga4 A T 7: 105,056,190 (GRCm39) Q264L probably damaging Het
Coil A G 11: 88,872,673 (GRCm39) T345A probably benign Het
Cyp11b2 A G 15: 74,723,281 (GRCm39) L461P probably damaging Het
Dock2 T C 11: 34,414,922 (GRCm39) E151G probably damaging Het
Dsc1 C T 18: 20,219,701 (GRCm39) probably null Het
Dync2h1 A T 9: 7,168,743 (GRCm39) C357S probably null Het
Ebf3 A C 7: 136,826,994 (GRCm39) I306R probably damaging Het
Eprs1 A G 1: 185,128,360 (GRCm39) H580R possibly damaging Het
Ermap A T 4: 119,035,810 (GRCm39) F393I probably damaging Het
Flii T C 11: 60,613,151 (GRCm39) T217A probably benign Het
Fras1 C T 5: 96,762,732 (GRCm39) Q745* probably null Het
Gja8 A G 3: 96,826,657 (GRCm39) V335A probably benign Het
Gm21560 A T 14: 6,218,333 (GRCm38) N48K probably damaging Het
Gpr158 C T 2: 21,653,802 (GRCm39) T457I possibly damaging Het
Kcnv1 A T 15: 44,977,997 (GRCm39) S14T unknown Het
Lamb2 T C 9: 108,358,496 (GRCm39) Y178H probably damaging Het
Lamc2 G A 1: 153,012,508 (GRCm39) T722M probably benign Het
Map1b T C 13: 99,567,142 (GRCm39) T1860A unknown Het
Map2k7 T C 8: 4,294,035 (GRCm39) Y194H possibly damaging Het
Map4 T A 9: 109,881,982 (GRCm39) M282K probably benign Het
Mmp10 A G 9: 7,503,531 (GRCm39) I134V probably benign Het
Mrtfa G T 15: 80,902,649 (GRCm39) S220* probably null Het
Msh5 A T 17: 35,248,978 (GRCm39) L685Q probably damaging Het
Myh1 T A 11: 67,111,463 (GRCm39) I1634N possibly damaging Het
Myh13 C T 11: 67,217,980 (GRCm39) R18* probably null Het
Myo3b A T 2: 69,957,329 (GRCm39) I185L probably damaging Het
Ninl G T 2: 150,808,145 (GRCm39) H294Q probably benign Het
Or4a79 G A 2: 89,552,269 (GRCm39) A62V possibly damaging Het
Or51b17 A T 7: 103,542,238 (GRCm39) S235T probably benign Het
Or8b44 T C 9: 38,410,607 (GRCm39) I214T possibly damaging Het
Orm3 T A 4: 63,275,180 (GRCm39) L97Q probably damaging Het
Osbpl1a T C 18: 12,889,281 (GRCm39) N432S probably benign Het
Pikfyve T A 1: 65,285,822 (GRCm39) D1020E probably damaging Het
Pxk T A 14: 8,122,371 (GRCm38) D60E probably benign Het
Rack1 T A 11: 48,694,752 (GRCm39) V198E probably damaging Het
Ripk1 C T 13: 34,201,100 (GRCm39) A271V probably benign Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Ryr2 G T 13: 11,669,266 (GRCm39) H3513N possibly damaging Het
Scn7a A T 2: 66,534,147 (GRCm39) D509E probably damaging Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Sfxn5 A G 6: 85,233,414 (GRCm39) V181A probably benign Het
Slc5a4b C T 10: 75,925,812 (GRCm39) A198T probably damaging Het
Sp2 C T 11: 96,848,552 (GRCm39) R357H possibly damaging Het
Tchh CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC 3: 93,354,015 (GRCm39) probably benign Het
Usp37 A G 1: 74,493,118 (GRCm39) V723A probably benign Het
Usp45 G T 4: 21,781,844 (GRCm39) R36I probably damaging Het
Vcan T C 13: 89,838,737 (GRCm39) D2269G probably damaging Het
Vmn2r18 T A 5: 151,485,338 (GRCm39) M719L possibly damaging Het
Vmn2r52 C T 7: 9,902,998 (GRCm39) G477R probably benign Het
Vmn2r60 C A 7: 41,791,716 (GRCm39) N546K probably benign Het
Wnt8b G A 19: 44,500,280 (GRCm39) C289Y probably damaging Het
Zdbf2 T G 1: 63,329,925 (GRCm39) M10R probably benign Het
Zfp945 T A 17: 23,071,543 (GRCm39) K140* probably null Het
Other mutations in Tnfrsf11b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Tnfrsf11b APN 15 54,123,238 (GRCm39) missense probably damaging 1.00
IGL00770:Tnfrsf11b APN 15 54,117,468 (GRCm39) missense probably benign 0.16
IGL00774:Tnfrsf11b APN 15 54,117,468 (GRCm39) missense probably benign 0.16
IGL02355:Tnfrsf11b APN 15 54,115,778 (GRCm39) missense probably damaging 0.96
IGL02362:Tnfrsf11b APN 15 54,115,778 (GRCm39) missense probably damaging 0.96
IGL02711:Tnfrsf11b APN 15 54,119,532 (GRCm39) missense probably benign 0.01
IGL02870:Tnfrsf11b APN 15 54,119,423 (GRCm39) missense probably benign 0.05
IGL03219:Tnfrsf11b APN 15 54,117,574 (GRCm39) nonsense probably null
P0012:Tnfrsf11b UTSW 15 54,123,194 (GRCm39) splice site probably benign
R1550:Tnfrsf11b UTSW 15 54,117,454 (GRCm39) missense possibly damaging 0.94
R1813:Tnfrsf11b UTSW 15 54,119,493 (GRCm39) nonsense probably null
R3840:Tnfrsf11b UTSW 15 54,115,478 (GRCm39) missense probably damaging 0.99
R3910:Tnfrsf11b UTSW 15 54,119,578 (GRCm39) splice site probably benign
R3911:Tnfrsf11b UTSW 15 54,119,578 (GRCm39) splice site probably benign
R3912:Tnfrsf11b UTSW 15 54,119,578 (GRCm39) splice site probably benign
R4299:Tnfrsf11b UTSW 15 54,115,491 (GRCm39) missense probably benign
R4362:Tnfrsf11b UTSW 15 54,119,555 (GRCm39) missense possibly damaging 0.94
R4363:Tnfrsf11b UTSW 15 54,119,555 (GRCm39) missense possibly damaging 0.94
R5288:Tnfrsf11b UTSW 15 54,141,622 (GRCm39) missense probably benign 0.00
R5653:Tnfrsf11b UTSW 15 54,123,262 (GRCm39) missense probably damaging 1.00
R5753:Tnfrsf11b UTSW 15 54,117,455 (GRCm39) missense possibly damaging 0.90
R6881:Tnfrsf11b UTSW 15 54,117,539 (GRCm39) missense probably benign 0.00
R7704:Tnfrsf11b UTSW 15 54,123,497 (GRCm39) missense probably benign 0.30
R7730:Tnfrsf11b UTSW 15 54,117,470 (GRCm39) nonsense probably null
R8017:Tnfrsf11b UTSW 15 54,117,598 (GRCm39) nonsense probably null
R8052:Tnfrsf11b UTSW 15 54,115,502 (GRCm39) missense probably damaging 1.00
R8060:Tnfrsf11b UTSW 15 54,117,505 (GRCm39) missense probably benign 0.38
R8711:Tnfrsf11b UTSW 15 54,123,508 (GRCm39) missense possibly damaging 0.81
R9224:Tnfrsf11b UTSW 15 54,115,556 (GRCm39) missense possibly damaging 0.67
X0025:Tnfrsf11b UTSW 15 54,141,631 (GRCm39) missense probably benign 0.22
Predicted Primers PCR Primer
(F):5'- TACATCAGGCCCTTCAAGGTG -3'
(R):5'- CTGAAGCTTCTCACAAGACTGTTG -3'

Sequencing Primer
(F):5'- CCATTTTTGATCCTCCATAAACTGAG -3'
(R):5'- GCTCACATAAAATGTAGTCATG -3'
Posted On 2019-05-13