Incidental Mutation 'IGL00708:Napsa'
ID12751
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Napsa
Ensembl Gene ENSMUSG00000002204
Gene Namenapsin A aspartic peptidase
SynonymsKdap, NAP1, napsin, pronapsin
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.110) question?
Stock #IGL00708
Quality Score
Status
Chromosome7
Chromosomal Location44572380-44586862 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 44581421 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 71 (T71A)
Ref Sequence ENSEMBL: ENSMUSP00000002274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002274] [ENSMUST00000208514]
Predicted Effect probably benign
Transcript: ENSMUST00000002274
AA Change: T71A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000002274
Gene: ENSMUSG00000002204
AA Change: T71A

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Asp 72 396 6.6e-109 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153124
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207302
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207543
Predicted Effect probably benign
Transcript: ENSMUST00000208514
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209101
Coding Region Coverage
Validation Efficiency
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
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts17 A G 7: 66,968,902 E388G probably damaging Het
Arid4a T C 12: 71,072,728 S374P probably benign Het
Ccdc186 A T 19: 56,813,447 S79R probably benign Het
Cela3b C A 4: 137,421,969 L241F probably benign Het
Dsg4 T A 18: 20,461,326 V504D probably benign Het
Fam160a2 C T 7: 105,388,260 R372Q probably damaging Het
Meis2 C T 2: 115,864,244 D473N probably benign Het
Mri1 A T 8: 84,251,648 I338N probably damaging Het
Mroh8 A G 2: 157,220,170 S868P probably damaging Het
Mtus1 G A 8: 41,084,349 T110I probably damaging Het
Mug2 A G 6: 122,047,487 E506G possibly damaging Het
Prepl T C 17: 85,078,507 Y243C probably damaging Het
Prkdc A G 16: 15,779,426 I2817V probably damaging Het
Rbm26 C T 14: 105,159,960 V69I unknown Het
Tcerg1 T A 18: 42,571,125 N949K probably benign Het
Tgfbr1 C T 4: 47,383,992 T45I probably benign Het
Trim37 T A 11: 87,186,393 D516E probably damaging Het
Wdr7 C T 18: 63,778,033 T832M probably benign Het
Zfp280d T C 9: 72,312,135 V198A probably benign Het
Other mutations in Napsa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01380:Napsa APN 7 44586674 missense probably damaging 0.99
IGL01521:Napsa APN 7 44586637 missense probably damaging 1.00
IGL01630:Napsa APN 7 44586665 missense probably damaging 1.00
IGL01862:Napsa APN 7 44582493 missense probably damaging 0.99
IGL01935:Napsa APN 7 44586622 missense probably benign 0.01
IGL02421:Napsa APN 7 44585055 missense probably damaging 1.00
IGL02831:Napsa APN 7 44586760 missense probably benign
IGL03008:Napsa APN 7 44585796 missense possibly damaging 0.77
PIT4131001:Napsa UTSW 7 44581451 missense probably damaging 1.00
R0422:Napsa UTSW 7 44585106 missense probably damaging 1.00
R1542:Napsa UTSW 7 44581689 missense probably damaging 1.00
R1564:Napsa UTSW 7 44586649 missense probably damaging 1.00
R1903:Napsa UTSW 7 44581736 missense probably damaging 1.00
R1964:Napsa UTSW 7 44581685 missense probably benign 0.01
R2366:Napsa UTSW 7 44582485 missense probably damaging 1.00
R3713:Napsa UTSW 7 44581428 missense probably damaging 1.00
R5441:Napsa UTSW 7 44581393 unclassified probably benign
R5512:Napsa UTSW 7 44572616 start codon destroyed probably null 0.01
R5682:Napsa UTSW 7 44585344 missense possibly damaging 0.92
R6290:Napsa UTSW 7 44581337 missense probably benign 0.00
R7046:Napsa UTSW 7 44585085 missense probably damaging 1.00
R7134:Napsa UTSW 7 44585735 missense probably benign 0.04
R7677:Napsa UTSW 7 44581706 nonsense probably null
Posted On2012-12-06