|Institutional Source||Beutler Lab|
|Gene Name||signal peptide peptidase like 2B|
|Is this an essential gene?||Probably essential (E-score: 0.877)|
|Stock #||R8212 (G1)|
|Chromosomal Location||80855275-80868708 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 80865359 bp|
|Amino Acid Change||Valine to Aspartic acid at position 356 (V356D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000036289 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000035597]|
|Predicted Effect||probably damaging
AA Change: V356D
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: V356D
|Coding Region Coverage||
|Validation Efficiency||97% (37/38)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the GXGD family of aspartic proteases. The GXGD proteases are transmembrane proteins with two conserved catalytic motifs localized within the membrane-spanning regions. This enzyme localizes to endosomes, lysosomes, and the plasma membrane. It cleaves the transmembrane domain of tumor necrosis factor alpha to release the intracellular domain, which triggers cytokine expression in the innate and adaptive immunity pathways. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele are viable and overtly normal with no apparent defects in B cell and dendritic cell homeostasis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sppl2b||
(F):5'- GTACATGCTGAAGACCATCCG -3'
(R):5'- AGATGTCTCCAAAGCCCAGG -3'
(F):5'- TGAAGACCATCCGCCTGC -3'
(R):5'- TTCAGCACCATGGGCAG -3'