Incidental Mutation 'IGL02709:Ctsc'
ID 304493
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ctsc
Ensembl Gene ENSMUSG00000030560
Gene Name cathepsin C
Synonyms dipeptidylpeptidase 1, DPPI, DPP1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # IGL02709
Quality Score
Status
Chromosome 7
Chromosomal Location 87927293-87960096 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 87957347 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 294 (A294V)
Ref Sequence ENSEMBL: ENSMUSP00000032779 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032779] [ENSMUST00000128791]
AlphaFold P97821
Predicted Effect probably damaging
Transcript: ENSMUST00000032779
AA Change: A294V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000032779
Gene: ENSMUSG00000030560
AA Change: A294V

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:CathepsinC_exc 25 141 1.5e-48 PFAM
Pept_C1 230 457 1.05e-79 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000128791
SMART Domains Protein: ENSMUSP00000119503
Gene: ENSMUSG00000030560

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:CathepsinC_exc 25 141 7.1e-62 PFAM
SCOP:d3gcb__ 144 254 4e-8 SMART
Blast:Pept_C1 229 254 4e-9 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208302
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the peptidase C1 (papain) family of cysteine proteases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include the dipeptidyl peptidase 1 light, heavy, and exclusion domain chains, which together comprise one subunit of the homotetrameric enzyme. This enzyme has amino dipeptidase activity and may play a role in the activation of granzymes during inflammation. Homozygous knockout mice for this gene exhibit impaired granzyme activation and enhanced survival in a sepsis model. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygotes for some targeted null mutations exhibit cytotoxic lymphocytes with inactive granzymes A and B which are incapable of granule-mediated apoptosis. Mutant mast cells lack activated chymase activity. Homozygotes for other alleles display a scruffy coat with age and behavioral abnormalities [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 A G 3: 59,654,619 (GRCm39) Y151C probably damaging Het
Aco1 G A 4: 40,180,199 (GRCm39) V367M possibly damaging Het
Acsm5 G A 7: 119,134,041 (GRCm39) W274* probably null Het
Ago1 G A 4: 126,347,433 (GRCm39) Q135* probably null Het
Bmpr1b A T 3: 141,562,314 (GRCm39) L291Q probably damaging Het
Cdcp1 A G 9: 123,002,879 (GRCm39) Y731H probably damaging Het
Clrn2 A G 5: 45,617,495 (GRCm39) N122S probably damaging Het
Col4a3 G T 1: 82,656,833 (GRCm39) G751W unknown Het
Cyp26a1 T C 19: 37,688,426 (GRCm39) L316P probably damaging Het
Dennd6b A T 15: 89,075,125 (GRCm39) probably benign Het
Dnah10 T A 5: 124,850,809 (GRCm39) Y1659* probably null Het
Dspp A C 5: 104,325,116 (GRCm39) D493A unknown Het
Dyrk1a C T 16: 94,486,102 (GRCm39) A445V probably benign Het
E030025P04Rik C A 11: 109,030,324 (GRCm39) probably benign Het
Ecpas A G 4: 58,872,699 (GRCm39) S201P possibly damaging Het
Foxd4 T C 19: 24,876,973 (GRCm39) H409R probably damaging Het
Fubp3 A G 2: 31,485,343 (GRCm39) probably benign Het
Herc1 A G 9: 66,404,962 (GRCm39) K4511E probably damaging Het
Ifna1 A G 4: 88,768,523 (GRCm39) D67G probably benign Het
Map1lc3b T A 8: 122,322,768 (GRCm39) L82Q probably damaging Het
Mcc A T 18: 44,578,877 (GRCm39) S844T possibly damaging Het
Mccc1 A T 3: 36,044,888 (GRCm39) *85K probably null Het
Memo1 G A 17: 74,552,027 (GRCm39) L90F probably damaging Het
Mfrp A G 9: 44,014,561 (GRCm39) H236R probably benign Het
Mmrn1 G A 6: 60,950,030 (GRCm39) D327N probably damaging Het
Mycbp2 T C 14: 103,392,697 (GRCm39) E3178G probably damaging Het
Pcsk9 A G 4: 106,304,886 (GRCm39) probably benign Het
Pros1 T C 16: 62,719,308 (GRCm39) L110P probably damaging Het
Reck A G 4: 43,913,791 (GRCm39) Y215C probably damaging Het
Ripk4 T C 16: 97,544,766 (GRCm39) D627G probably damaging Het
Rnf144a G T 12: 26,371,009 (GRCm39) H151N probably damaging Het
Slc39a9 T A 12: 80,713,421 (GRCm39) H106Q probably damaging Het
Stab2 A G 10: 86,682,029 (GRCm39) probably benign Het
Sympk T G 7: 18,781,463 (GRCm39) H806Q probably benign Het
Tars2 C A 3: 95,649,383 (GRCm39) probably benign Het
Thap3 T A 4: 152,070,169 (GRCm39) H75L probably damaging Het
Trappc8 T C 18: 20,970,235 (GRCm39) I918M possibly damaging Het
Ube2j2 T C 4: 156,041,788 (GRCm39) V249A probably damaging Het
Ubqln3 T G 7: 103,790,543 (GRCm39) T516P probably benign Het
Unc13c A G 9: 73,466,238 (GRCm39) S1810P probably benign Het
Vmn1r4 T A 6: 56,933,524 (GRCm39) Y9* probably null Het
Vmn1r89 T A 7: 12,954,131 (GRCm39) M221K probably damaging Het
Vmn2r1 G T 3: 64,012,355 (GRCm39) V739F probably benign Het
Vmn2r25 C T 6: 123,816,723 (GRCm39) R286Q possibly damaging Het
Vmn2r91 T A 17: 18,325,711 (GRCm39) Y110N possibly damaging Het
Zbtb48 T C 4: 152,105,851 (GRCm39) H418R probably damaging Het
Other mutations in Ctsc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01147:Ctsc APN 7 87,951,479 (GRCm39) missense possibly damaging 0.78
IGL03103:Ctsc APN 7 87,959,013 (GRCm39) missense probably benign
IGL03117:Ctsc APN 7 87,958,988 (GRCm39) missense probably damaging 0.99
R0071:Ctsc UTSW 7 87,957,357 (GRCm39) unclassified probably benign
R0334:Ctsc UTSW 7 87,927,550 (GRCm39) missense possibly damaging 0.81
R0587:Ctsc UTSW 7 87,946,437 (GRCm39) missense probably benign 0.35
R1006:Ctsc UTSW 7 87,959,037 (GRCm39) missense probably damaging 1.00
R1401:Ctsc UTSW 7 87,930,706 (GRCm39) missense probably damaging 1.00
R1472:Ctsc UTSW 7 87,930,670 (GRCm39) missense possibly damaging 0.88
R1602:Ctsc UTSW 7 87,927,512 (GRCm39) missense possibly damaging 0.77
R1650:Ctsc UTSW 7 87,930,634 (GRCm39) nonsense probably null
R1656:Ctsc UTSW 7 87,930,616 (GRCm39) missense possibly damaging 0.64
R1808:Ctsc UTSW 7 87,948,750 (GRCm39) missense possibly damaging 0.49
R3848:Ctsc UTSW 7 87,958,818 (GRCm39) missense probably benign 0.01
R4154:Ctsc UTSW 7 87,948,755 (GRCm39) missense probably benign 0.01
R4614:Ctsc UTSW 7 87,927,583 (GRCm39) critical splice donor site probably null
R5313:Ctsc UTSW 7 87,958,761 (GRCm39) missense probably damaging 1.00
R6863:Ctsc UTSW 7 87,951,486 (GRCm39) nonsense probably null
R6949:Ctsc UTSW 7 87,930,666 (GRCm39) missense probably damaging 1.00
R7220:Ctsc UTSW 7 87,946,361 (GRCm39) missense probably damaging 1.00
R7244:Ctsc UTSW 7 87,951,430 (GRCm39) missense probably benign
R7254:Ctsc UTSW 7 87,958,767 (GRCm39) missense probably damaging 1.00
R7732:Ctsc UTSW 7 87,946,367 (GRCm39) missense probably damaging 0.98
R8157:Ctsc UTSW 7 87,951,416 (GRCm39) missense probably benign 0.01
R8331:Ctsc UTSW 7 87,946,328 (GRCm39) missense possibly damaging 0.53
R8392:Ctsc UTSW 7 87,946,451 (GRCm39) missense probably benign 0.00
R8971:Ctsc UTSW 7 87,959,024 (GRCm39) missense probably benign 0.00
R9005:Ctsc UTSW 7 87,927,502 (GRCm39) missense probably damaging 1.00
R9113:Ctsc UTSW 7 87,959,104 (GRCm39) missense possibly damaging 0.93
R9131:Ctsc UTSW 7 87,959,016 (GRCm39) nonsense probably null
Posted On 2015-04-16