|Institutional Source||Beutler Lab|
|Gene Name||tumor necrosis factor receptor superfamily, member 1b|
|Synonyms||TNFalpha-R2, TNFBR, CD120b, TNFR80, TNF-R-II, TNF-R75, p75 TNFR, Tnfr2, p75, TNF-R2, TNFRII, TNF-alphaR2|
|Is this an essential gene?||Possibly non essential (E-score: 0.314)|
|Stock #||R0761 (G1)|
|Chromosomal Location||145213463-145246870 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 145216100 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 371 (D371G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000030336 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030336]|
|Predicted Effect||possibly damaging
AA Change: D371G
PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
AA Change: D371G
|Meta Mutation Damage Score||0.0602|
|Coding Region Coverage||
|Validation Efficiency||100% (51/51)|
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 and TNF-receptor 1 form a heterocomplex that mediates the recruitment of two anti-apoptotic proteins, c-IAP1 and c-IAP2, which possess E3 ubiquitin ligase activity. The function of IAPs in TNF-receptor signalling is unknown, however, c-IAP1 is thought to potentiate TNF-induced apoptosis by the ubiquitination and degradation of TNF-receptor-associated factor 2, which mediates anti-apoptotic signals. Knockout studies in mice also suggest a role of this protein in protecting neurons from apoptosis by stimulating antioxidative pathways. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit altered inflammatory responses in a variety of experimental conditions, impaired recovery from spinal cord injury, enhanced ischemia-reperfusion-induced retinal damage, and resistance to cerebral malaria. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tnfrsf1b||
(F):5'- TGACTGCAATCTGATCAAACCAGCC -3'
(R):5'- TCTGCCATCGTAGTAGAGGTGAGC -3'
(F):5'- TCTGTAGTCTCACACGGGG -3'
(R):5'- TAGTAGAGGTGAGCTAGGGTC -3'