|Institutional Source||Beutler Lab|
|Gene Name||napsin A aspartic peptidase|
|Synonyms||Kdap, NAP1, napsin, pronapsin|
|Is this an essential gene?||Probably non essential (E-score: 0.106)|
|Stock #||R7046 (G1)|
|Chromosomal Location||44572380-44586862 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 44585085 bp|
|Amino Acid Change||Valine to Alanine at position 247 (V247A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000002274 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000002274] [ENSMUST00000208514]|
|Predicted Effect||probably damaging
AA Change: V247A
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: V247A
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||100% (63/63)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the peptidase A1 family of aspartic proteases. The encoded preproprotein is proteolytically processed to generate an activation peptide and the mature protease. The activation peptides of aspartic proteinases function as inhibitors of the protease active site. These peptide segments, or pro-parts, are deemed important for correct folding, targeting, and control of the activation of aspartic proteinase zymogens. The encoded protease may play a role in the proteolytic processing of pulmonary surfactant protein B in the lung and may function in protein catabolism in the renal proximal tubules. This gene has been described as a marker for lung adenocarcinoma and renal cell carcinoma. [provided by RefSeq, Feb 2016]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Napsa||
(F):5'- CCATCTAGAAGCCAACTGGAG -3'
(R):5'- ACTAGGTCCTGTGATGAGGG -3'
(F):5'- ACTGGAGGAAGTCCCATCC -3'
(R):5'- TGTCTAGGATGGCACTGCAGC -3'