|Institutional Source||Beutler Lab|
|Gene Name||signal peptide peptidase like 2A|
|Is this an essential gene?||Possibly non essential (E-score: 0.366)|
|Stock #||R0458 (G1)|
|Chromosomal Location||126890391-126933235 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 126904959 bp|
|Amino Acid Change||Alanine to Aspartic acid at position 483 (A483D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028844 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028844]|
|Predicted Effect||probably damaging
AA Change: A483D
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: A483D
AA Change: A229D
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.36|
|Coding Region Coverage||
|Validation Efficiency||100% (79/79)|
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, which are transmembrane proteins with two conserved catalytic motifs localized within the membrane-spanning regions, as well as a member of the signal peptide peptidase-like protease (SPPL) family. This protein is expressed in all major adult human tissues and localizes to late endosomal compartments and lysosomal membranes. A pseudogene of this gene also lies on chromosome 15. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased immunoglobulin prior to and after immunization and decreased splenic B cells, myeloid dendritic cells, T2 B cells and follicular B cells. Mice homozygous for a hypomorphic allele exhibit similar albeit less severe phenotypes. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sppl2a||
(F):5'- GGTTTCTGTGAACTCAGGGCACTC -3'
(R):5'- AGGGCATCTGACACCTCTAACCTC -3'
(F):5'- CTGGGGTAATGCTAAGTTCCTGAC -3'
(R):5'- TCTAACCTCAGGAGCCTGTG -3'
|Posted On||May 23, 2013|