Incidental Mutation 'IGL01935:Napsa'
ID 180602
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Napsa
Ensembl Gene ENSMUSG00000002204
Gene Name napsin A aspartic peptidase
Synonyms Kdap, napsin, NAP1, pronapsin
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # IGL01935
Quality Score
Status
Chromosome 7
Chromosomal Location 44221869-44236270 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 44236046 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 362 (A362S)
Ref Sequence ENSEMBL: ENSMUSP00000002274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002274] [ENSMUST00000107906] [ENSMUST00000107907] [ENSMUST00000207493] [ENSMUST00000208651] [ENSMUST00000208514] [ENSMUST00000209177]
AlphaFold O09043
Predicted Effect probably benign
Transcript: ENSMUST00000002274
AA Change: A362S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000002274
Gene: ENSMUSG00000002204
AA Change: A362S

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 noncoding transcript
Transcript: ENSMUST00000209101
Predicted Effect probably benign
Transcript: ENSMUST00000208651
Predicted Effect probably benign
Transcript: ENSMUST00000208514
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aebp2 C T 6: 140,583,383 (GRCm39) probably benign Het
Akr1c12 A T 13: 4,322,244 (GRCm39) V266E probably damaging Het
Arhgef1 A G 7: 24,621,307 (GRCm39) T186A probably damaging Het
Atp8b5 A G 4: 43,366,638 (GRCm39) T801A probably benign Het
Card11 T A 5: 140,869,301 (GRCm39) I832F possibly damaging Het
Catsperg1 T C 7: 28,895,296 (GRCm39) probably null Het
Ccdc180 A G 4: 45,906,889 (GRCm39) T455A possibly damaging Het
Cfhr1 T A 1: 139,478,740 (GRCm39) Y210F probably benign Het
Chrna5 T C 9: 54,912,127 (GRCm39) V309A probably benign Het
Clstn2 A G 9: 97,345,521 (GRCm39) V609A probably damaging Het
Dnah6 T C 6: 73,037,126 (GRCm39) D3372G probably benign Het
Dtymk T C 1: 93,722,465 (GRCm39) K113E probably benign Het
Eef2k T C 7: 120,485,054 (GRCm39) F307S probably damaging Het
Flnc T A 6: 29,454,279 (GRCm39) V1864E probably damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Herc2 A G 7: 55,803,541 (GRCm39) Y2192C probably benign Het
Hkdc1 A T 10: 62,236,165 (GRCm39) V459E probably damaging Het
Iqsec3 T C 6: 121,360,951 (GRCm39) D969G probably damaging Het
Irf3 A G 7: 44,650,194 (GRCm39) T237A probably benign Het
Jade2 G A 11: 51,719,211 (GRCm39) T245I possibly damaging Het
Kctd8 A G 5: 69,497,707 (GRCm39) I313T possibly damaging Het
Kdm5a T A 6: 120,385,284 (GRCm39) S835R probably benign Het
Lama2 A C 10: 27,298,600 (GRCm39) H165Q probably damaging Het
Lrp1b T A 2: 41,158,367 (GRCm39) N1617Y probably damaging Het
Mcc C T 18: 44,652,583 (GRCm39) probably null Het
Mfsd14b T A 13: 65,215,739 (GRCm39) M405L probably benign Het
Myom3 T A 4: 135,515,692 (GRCm39) F794I probably damaging Het
Ncf4 A T 15: 78,140,186 (GRCm39) D195V probably damaging Het
Or11g1 T C 14: 50,651,012 (GRCm39) F4L probably benign Het
Pank4 T G 4: 155,063,987 (GRCm39) D659E probably damaging Het
Pcnx1 T A 12: 81,964,590 (GRCm39) D252E probably benign Het
Pglyrp2 G A 17: 32,637,551 (GRCm39) A159V probably benign Het
Phaf1 T C 8: 105,966,633 (GRCm39) F127L probably damaging Het
Pisd C A 5: 32,896,476 (GRCm39) probably null Het
Ppfia4 A G 1: 134,245,674 (GRCm39) S627P probably benign Het
Ppp1r15b T C 1: 133,059,761 (GRCm39) F93L probably benign Het
Pramel13 C T 4: 144,119,172 (GRCm39) probably benign Het
Qrfpr A T 3: 36,235,200 (GRCm39) probably null Het
Rapgef4 C A 2: 72,064,467 (GRCm39) T623K probably benign Het
Rapgef6 A G 11: 54,501,668 (GRCm39) T184A possibly damaging Het
Ssrp1 T C 2: 84,877,056 (GRCm39) *709Q probably null Het
St7 T G 6: 17,930,822 (GRCm39) I442S probably damaging Het
Syne2 T A 12: 75,972,087 (GRCm39) H992Q probably damaging Het
Syt14 T C 1: 192,615,679 (GRCm39) R436G probably damaging Het
Tbc1d5 A G 17: 51,270,793 (GRCm39) probably benign Het
Thsd7a T A 6: 12,317,418 (GRCm39) N1630I probably damaging Het
Tinagl1 T C 4: 130,061,794 (GRCm39) K180R probably damaging Het
Tmed7 T C 18: 46,730,190 (GRCm39) T54A probably benign Het
Tmprss2 A T 16: 97,379,795 (GRCm39) Y48* probably null Het
Tns2 C T 15: 102,020,069 (GRCm39) probably null Het
Unc13d T C 11: 115,960,577 (GRCm39) M496V probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Zbtb39 A G 10: 127,578,235 (GRCm39) T270A probably benign Het
Zfr T C 15: 12,180,798 (GRCm39) S976P probably benign Het
Zscan29 A G 2: 121,000,538 (GRCm39) F23S probably damaging Het
Other mutations in Napsa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00708:Napsa APN 7 44,230,845 (GRCm39) missense probably benign 0.00
IGL01380:Napsa APN 7 44,236,098 (GRCm39) missense probably damaging 0.99
IGL01521:Napsa APN 7 44,236,061 (GRCm39) missense probably damaging 1.00
IGL01630:Napsa APN 7 44,236,089 (GRCm39) missense probably damaging 1.00
IGL01862:Napsa APN 7 44,231,917 (GRCm39) missense probably damaging 0.99
IGL02421:Napsa APN 7 44,234,479 (GRCm39) missense probably damaging 1.00
IGL02831:Napsa APN 7 44,236,184 (GRCm39) missense probably benign
IGL03008:Napsa APN 7 44,235,220 (GRCm39) missense possibly damaging 0.77
PIT4131001:Napsa UTSW 7 44,230,875 (GRCm39) missense probably damaging 1.00
R0422:Napsa UTSW 7 44,234,530 (GRCm39) missense probably damaging 1.00
R1542:Napsa UTSW 7 44,231,113 (GRCm39) missense probably damaging 1.00
R1564:Napsa UTSW 7 44,236,073 (GRCm39) missense probably damaging 1.00
R1903:Napsa UTSW 7 44,231,160 (GRCm39) missense probably damaging 1.00
R1964:Napsa UTSW 7 44,231,109 (GRCm39) missense probably benign 0.01
R2366:Napsa UTSW 7 44,231,909 (GRCm39) missense probably damaging 1.00
R3713:Napsa UTSW 7 44,230,852 (GRCm39) missense probably damaging 1.00
R5441:Napsa UTSW 7 44,230,817 (GRCm39) unclassified probably benign
R5512:Napsa UTSW 7 44,222,040 (GRCm39) start codon destroyed probably null 0.01
R5682:Napsa UTSW 7 44,234,768 (GRCm39) missense possibly damaging 0.92
R6290:Napsa UTSW 7 44,230,761 (GRCm39) missense probably benign 0.00
R7046:Napsa UTSW 7 44,234,509 (GRCm39) missense probably damaging 1.00
R7134:Napsa UTSW 7 44,235,159 (GRCm39) missense probably benign 0.04
R7677:Napsa UTSW 7 44,231,130 (GRCm39) nonsense probably null
R7950:Napsa UTSW 7 44,234,758 (GRCm39) missense probably benign 0.13
R7983:Napsa UTSW 7 44,234,751 (GRCm39) missense possibly damaging 0.88
R9068:Napsa UTSW 7 44,235,223 (GRCm39) missense probably damaging 1.00
R9336:Napsa UTSW 7 44,231,769 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07