Incidental Mutation 'IGL01630:Napsa'
ID92892
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: 0.090) question?
Stock #IGL01630
Quality Score
Status
Chromosome7
Chromosomal Location44572380-44586862 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 44586665 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 376 (Y376C)
Ref Sequence ENSEMBL: ENSMUSP00000002274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002274] [ENSMUST00000107906] [ENSMUST00000107907] [ENSMUST00000207493] [ENSMUST00000208514] [ENSMUST00000208651] [ENSMUST00000209177]
Predicted Effect probably damaging
Transcript: ENSMUST00000002274
AA Change: Y376C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000002274
Gene: ENSMUSG00000002204
AA Change: Y376C

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Asp 72 396 6.6e-109 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107906
SMART Domains Protein: ENSMUSP00000103539
Gene: ENSMUSG00000062785

DomainStartEndE-ValueType
Pfam:Potassium_chann 1 21 8e-9 PFAM
BTB 90 194 4.38e-12 SMART
low complexity region 211 243 N/A INTRINSIC
low complexity region 251 267 N/A INTRINSIC
Pfam:Ion_trans 290 551 4.1e-45 PFAM
Pfam:Ion_trans_2 451 544 8.2e-12 PFAM
low complexity region 578 605 N/A INTRINSIC
low complexity region 622 650 N/A INTRINSIC
low complexity region 730 746 N/A INTRINSIC
low complexity region 750 767 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107907
SMART Domains Protein: ENSMUSP00000103540
Gene: ENSMUSG00000062785

DomainStartEndE-ValueType
low complexity region 19 48 N/A INTRINSIC
BTB 90 194 4.38e-12 SMART
low complexity region 211 243 N/A INTRINSIC
low complexity region 251 267 N/A INTRINSIC
Pfam:Ion_trans 351 539 1.5e-31 PFAM
Pfam:Ion_trans_2 450 544 2.4e-11 PFAM
low complexity region 578 605 N/A INTRINSIC
low complexity region 622 650 N/A INTRINSIC
low complexity region 729 745 N/A INTRINSIC
low complexity region 749 766 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153124
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207302
Predicted Effect probably benign
Transcript: ENSMUST00000207493
Predicted Effect probably benign
Transcript: ENSMUST00000208514
Predicted Effect probably benign
Transcript: ENSMUST00000208651
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209101
Predicted Effect probably benign
Transcript: ENSMUST00000209177
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam30 A G 3: 98,161,855 T207A possibly damaging Het
Ak8 T A 2: 28,712,279 M75K probably benign Het
Aldh1a7 A T 19: 20,696,329 probably benign Het
Ankrd34c G A 9: 89,729,826 T154I probably damaging Het
Arrb2 A G 11: 70,436,871 I120M probably damaging Het
Atp2a1 A G 7: 126,450,265 V535A probably benign Het
Cckbr G T 7: 105,434,086 W165C probably damaging Het
Col12a1 A T 9: 79,657,366 H1677Q probably damaging Het
Fancd2 T C 6: 113,563,124 F658S probably damaging Het
Gm5581 A T 6: 131,168,296 noncoding transcript Het
H2-M3 A G 17: 37,270,657 E70G possibly damaging Het
Hltf A G 3: 20,082,904 probably benign Het
Ighv1-24 C A 12: 114,773,053 V76F probably benign Het
Igkv1-110 A T 6: 68,271,161 R85W probably damaging Het
Kif9 A C 9: 110,485,070 R43S probably benign Het
Klf11 T C 12: 24,660,369 I472T probably benign Het
Notch2 C T 3: 98,146,618 A2199V possibly damaging Het
Olfr390 A G 11: 73,787,861 K308E probably benign Het
Olfr713 A T 7: 107,037,111 probably benign Het
Pcnt T A 10: 76,420,246 D720V probably damaging Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Ptk6 T C 2: 181,197,066 E298G probably damaging Het
Rbm27 T A 18: 42,301,840 L323H probably damaging Het
Sall3 A G 18: 80,971,269 L1076P probably benign Het
Sprr2h A G 3: 92,386,951 N35S unknown Het
Susd1 T C 4: 59,365,817 D412G possibly damaging Het
Ugdh T A 5: 65,416,905 M432L probably benign Het
Uggt2 C T 14: 119,042,772 V765I probably benign Het
Unc13d T C 11: 116,073,866 Q258R probably benign Het
Wdfy3 A T 5: 101,907,488 F1572Y probably benign Het
Xpo1 A G 11: 23,285,846 T645A probably benign Het
Zer1 A G 2: 30,101,831 V659A probably damaging Het
Other mutations in Napsa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00708:Napsa APN 7 44581421 missense probably benign 0.00
IGL01380:Napsa APN 7 44586674 missense probably damaging 0.99
IGL01521:Napsa APN 7 44586637 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
Posted On2013-12-09