|Institutional Source||Beutler Lab|
|Gene Name||tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin)|
|Synonyms||Opg, OCIF, OPG, TR1, osteoclastogenesis inhibitory factor|
|Is this an essential gene?||Possibly essential (E-score: 0.506)|
|Stock #||R5753 (G1)|
|Chromosomal Location||54250619-54278484 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 54254059 bp|
|Amino Acid Change||Valine to Leucine at position 267 (V267L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000078705 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000079772]|
|Predicted Effect||possibly damaging
AA Change: V267L
PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: V267L
|Meta Mutation Damage Score||0.086|
|Coding Region Coverage||
|Validation Efficiency||97% (58/60)|
|MGI Phenotype||Strain: 2181227
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|
|Other mutations in this stock||
|Other mutations in Tnfrsf11b||
(F):5'- CAGTTACTGCAGCTGTTAGAAC -3'
(R):5'- AGGTTTGCTGTTCCTACCAAG -3'
(F):5'- GCTGTAACAGGAATTGTGTCTACAC -3'
(R):5'- CCAAGATTATACCAAATTGGCTGAG -3'