Incidental Mutation 'R6863:Ctsc'
ID 535747
Institutional Source Beutler Lab
Gene Symbol Ctsc
Ensembl Gene ENSMUSG00000030560
Gene Name cathepsin C
Synonyms dipeptidylpeptidase 1, DPPI, DPP1
MMRRC Submission 044963-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R6863 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 87927293-87960096 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 87951486 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 243 (Y243*)
Ref Sequence ENSEMBL: ENSMUSP00000119503 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032779] [ENSMUST00000128791]
AlphaFold P97821
Predicted Effect probably null
Transcript: ENSMUST00000032779
AA Change: Y244*
SMART Domains Protein: ENSMUSP00000032779
Gene: ENSMUSG00000030560
AA Change: Y244*

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 null
Transcript: ENSMUST00000128791
AA Change: Y243*
SMART Domains Protein: ENSMUSP00000119503
Gene: ENSMUSG00000030560
AA Change: Y243*

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 100% (56/56)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 A T 15: 94,277,627 (GRCm39) Y278* probably null Het
Agap3 A T 5: 24,657,461 (GRCm39) Y86F possibly damaging Het
Agap3 C A 5: 24,657,462 (GRCm39) Y86* probably null Het
Ahnak T C 19: 8,989,729 (GRCm39) probably benign Het
Arhgap45 G T 10: 79,853,616 (GRCm39) E43D probably benign Het
Cacna1d A C 14: 29,797,809 (GRCm39) I1426S probably damaging Het
Calhm5 C A 10: 33,968,451 (GRCm39) A201S probably benign Het
Cdkn2a T C 4: 89,193,003 (GRCm39) E159G probably benign Het
Cep85l C A 10: 53,225,214 (GRCm39) W125L probably damaging Het
Ces1g C T 8: 94,043,647 (GRCm39) V431M possibly damaging Het
Csmd1 G A 8: 17,584,929 (GRCm39) A21V possibly damaging Het
Ctu1 A G 7: 43,326,046 (GRCm39) E235G probably damaging Het
Degs2 T C 12: 108,668,457 (GRCm39) Y14C probably damaging Het
Dnaaf5 T C 5: 139,137,351 (GRCm39) F235L probably damaging Het
Dpp8 T C 9: 64,942,290 (GRCm39) S5P probably damaging Het
Dync1h1 T C 12: 110,618,614 (GRCm39) I3288T probably benign Het
Ebpl A T 14: 61,597,751 (GRCm39) L30Q probably damaging Het
Eif1ad15 T C 12: 88,287,968 (GRCm39) Y95C probably damaging Het
Etaa1 T A 11: 17,903,794 (GRCm39) M1L probably benign Het
Etl4 A G 2: 20,811,120 (GRCm39) T1068A probably benign Het
Eya1 C A 1: 14,341,199 (GRCm39) probably null Het
Fat1 G T 8: 45,497,501 (GRCm39) V4329L probably damaging Het
Fras1 A T 5: 96,691,165 (GRCm39) Q127L probably benign Het
Gm1110 T G 9: 26,792,360 (GRCm39) Y590S probably damaging Het
Gm14410 G A 2: 176,885,860 (GRCm39) Q135* probably null Het
Greb1 A T 12: 16,734,421 (GRCm39) V1523D probably damaging Het
Hmg20b T C 10: 81,182,854 (GRCm39) N210S probably damaging Het
Kcnh7 T C 2: 62,618,029 (GRCm39) K487E possibly damaging Het
Kcnk13 G T 12: 100,027,948 (GRCm39) R341L probably damaging Het
Kif17 T A 4: 137,997,195 (GRCm39) Y139* probably null Het
Klhl2 A T 8: 65,275,743 (GRCm39) N53K probably benign Het
Lrit2 G T 14: 36,793,901 (GRCm39) G322C probably damaging Het
Macir T C 1: 97,574,030 (GRCm39) T12A probably benign Het
Matcap1 T C 8: 106,012,435 (GRCm39) D4G probably damaging Het
Mgam A T 6: 40,705,943 (GRCm39) Q4L probably benign Het
Mst1r A G 9: 107,797,225 (GRCm39) T1365A probably benign Het
Muc5ac C T 7: 141,363,481 (GRCm39) probably benign Het
Mydgf C A 17: 56,490,789 (GRCm39) V35L probably damaging Het
Nmt2 T A 2: 3,306,341 (GRCm39) probably null Het
Or10s1 A G 9: 39,986,110 (GRCm39) Y173C probably damaging Het
Or52ad1 C T 7: 102,996,123 (GRCm39) C4Y possibly damaging Het
Pik3r2 T C 8: 71,223,058 (GRCm39) Y454C probably damaging Het
Rad54l T C 4: 115,956,866 (GRCm39) Y485C probably damaging Het
Rapgef6 T A 11: 54,437,206 (GRCm39) S50T probably benign Het
Scaf11 T C 15: 96,317,300 (GRCm39) S755G probably damaging Het
Shb A G 4: 45,458,163 (GRCm39) W135R probably damaging Het
Slc1a4 T C 11: 20,264,001 (GRCm39) K239E probably damaging Het
Slc44a4 T A 17: 35,142,798 (GRCm39) V248D probably benign Het
Smpdl3a T A 10: 57,684,107 (GRCm39) Y288* probably null Het
Sptbn1 T C 11: 30,096,777 (GRCm39) M267V possibly damaging Het
Taok2 C T 7: 126,471,109 (GRCm39) R661Q probably damaging Het
Tas1r2 A T 4: 139,397,030 (GRCm39) I819F probably damaging Het
Themis2 A T 4: 132,516,907 (GRCm39) W198R probably damaging Het
Timd4 C G 11: 46,706,270 (GRCm39) S24* probably null Het
Tnrc18 T C 5: 142,800,952 (GRCm39) D2G probably damaging Het
Wdr35 A G 12: 9,040,047 (GRCm39) D384G probably damaging Het
Zfp560 C A 9: 20,259,795 (GRCm39) V356F probably damaging Het
Other mutations in Ctsc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01147:Ctsc APN 7 87,951,479 (GRCm39) missense possibly damaging 0.78
IGL02709:Ctsc APN 7 87,957,347 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- CCCCTTAGAATCAGAGGTGAGG -3'
(R):5'- TAGTGTAGGCTATCTACCAATGC -3'

Sequencing Primer
(F):5'- AGGTGAGGAGACCATCTTTTAAG -3'
(R):5'- AGGCTATCTACCAATGCTGACTTCAG -3'
Posted On 2018-10-18