|Institutional Source||Beutler Lab|
|Gene Name||lymphotoxin B receptor|
|Synonyms||TNF-R-III, TNFRrp, TNFCR, TNFR2-RP, LTbetaR, TNF receptor-related protein, LT-beta receptor, LT beta-R, Tnfbr, Tnfrsf3, Ltar|
|Is this an essential gene?||Probably non essential (E-score: 0.197)|
|Stock #||R7584 (G1)|
|Chromosomal Location||125306571-125313885 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 125307241 bp|
|Amino Acid Change||Glutamine to Lysine at position 413 (Q413K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000032489 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000032489]|
|Predicted Effect||probably benign
AA Change: Q413K
PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
AA Change: Q413K
|Coding Region Coverage||
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 major ligands of this receptor include lymphotoxin alpha/beta and tumor necrosis factor ligand superfamily member 14. The encoded protein plays a role in signalling during the development of lymphoid and other organs, lipid metabolism, immune response, and programmed cell death. Activity of this receptor has also been linked to carcinogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Aug 2012]
PHENOTYPE: Homozygotes for a targeted null mutation lack Peyer's patches, colon-associated lymphoid tissues, and lymph nodes. Mutants also exhibit severely reduced numbers of NK cells and increased susceptibility to Theiler's murine encephalomyelitis virus. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ltbr||
(F):5'- TGTCTGAGGCTAAGTCCCTTAG -3'
(R):5'- GAATGGCATTCATGTGACCGG -3'
(F):5'- AGGGCTCTATTTCTCAGAGCC -3'
(R):5'- CATCTACATATACAATGGGCCAGTG -3'