|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: 0.143)|
|Stock #||R7253 (G1)|
|Chromosomal Location||43016555-43089188 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 43037667 bp|
|Amino Acid Change||Valine to Isoleucine at position 57 (V57I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000024708 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000024708]|
|Predicted Effect||probably benign
AA Change: V57I
PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
AA Change: V57I
|Coding Region Coverage||
|Validation Efficiency||99% (74/75)|
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'- GCCAGATCTTGAACAGTGGTG -3'
(R):5'- GATGCACTCTCGGTCAGTCAAG -3'
(F):5'- ATCTTGAACAGTGGTGATGACC -3'
(R):5'- ATCATCGGCCATGGACATG -3'