|Institutional Source||Beutler Lab|
|Gene Name||tumor necrosis factor receptor superfamily, member 11a, NFKB activator|
|Is this an essential gene?||Probably non essential (E-score: 0.103)|
|Stock #||R7607 (G1)|
|Chromosomal Location||105780718-105847981 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 105844732 bp|
|Amino Acid Change||Valine to Isoleucine at position 582 (V582I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000027559 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027559]|
Crystal structure of mouse RANKL-RANK complex [X-RAY DIFFRACTION]
Crystal structure of mouse RANK [X-RAY DIFFRACTION]
Crystal structure of extracellular domains of mouse RANK-RANKL complex [X-RAY DIFFRACTION]
Crystal Structure of mouse RANK bound to RANKL [X-RAY DIFFRACTION]
|Predicted Effect||probably benign
AA Change: V582I
PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
AA Change: V582I
|Coding Region Coverage||
|Validation Efficiency||99% (69/70)|
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 receptors can interact with various TRAF family proteins, through which this receptor induces the activation of NF-kappa B and MAPK8/JNK. This receptor and its ligand are important regulators of the interaction between T cells and dendritic cells. This receptor is also an essential mediator for osteoclast and lymph node development. Mutations at this locus have been associated with familial expansile osteolysis, autosomal recessive osteopetrosis, and Paget disease of bone. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Aug 2012]
PHENOTYPE: Mice homozygous for a knock-out or spontaneous allele exhibit a failure of tooth eruption, osteopetrosis, and abnormal immune system morphology. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tnfrsf11a||
(F):5'- TAACTCCACGTTCATCTCTAGCGG -3'
(R):5'- TGCACAGTGGCTAGCTACAC -3'
(F):5'- TTCATCTCTAGCGGGCAGG -3'
(R):5'- GCTACACCATGTTTTTGGAAAGGC -3'