|Institutional Source||Beutler Lab|
|Gene Name||tumor necrosis factor receptor superfamily, member 21|
|Synonyms||DR6, TR7, Death receptor 6|
|Is this an essential gene?||Probably non essential (E-score: 0.119)|
|Stock #||R4708 (G1)|
|Chromosomal Location||43016555-43089188 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 43038232 bp|
|Amino Acid Change||Threonine to Isoleucine at position 245 (T245I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000024708 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000024708]|
|Predicted Effect||possibly damaging
AA Change: T245I
PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
AA Change: T245I
|Meta Mutation Damage Score||0.0608|
|Coding Region Coverage||
|Validation Efficiency||97% (68/70)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tumor necrosis factor receptor superfamily. The encoded protein activates nuclear factor kappa-B and mitogen-activated protein kinase 8 (also called c-Jun N-terminal kinase 1), and induces cell apoptosis. Through its death domain, the encoded receptor interacts with tumor necrosis factor receptor type 1-associated death domain (TRADD) protein, which is known to mediate signal transduction of tumor necrosis factor receptors. Knockout studies in mice suggest that this gene plays a role in T-helper cell activation, and may be involved in inflammation and immune regulation. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired T cell differentiation and an enhanced Th2 response. Mice homozygous for a different knock-out allele show increased CD4+ T cell proliferation and Th2 cytokine production, and enhanced B cell proliferation, survival, and humoral responses. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tnfrsf21||
(F):5'- AAAGCTCACACGGACTGTC -3'
(R):5'- TGTTGTCTCCTAATAGAAACCCTC -3'
(F):5'- ACTGTCTGGGTCAGAACCTG -3'
(R):5'- TCCTAATAGAAACCCTCTGAGTTGC -3'