Incidental Mutation 'R1401:Ctsc'
ID 160128
Institutional Source Beutler Lab
Gene Symbol Ctsc
Ensembl Gene ENSMUSG00000030560
Gene Name cathepsin C
Synonyms dipeptidylpeptidase 1, DPPI, DPP1
MMRRC Submission 039463-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R1401 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 87927293-87960096 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 87930706 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 95 (V95E)
Ref Sequence ENSEMBL: ENSMUSP00000147006 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032779] [ENSMUST00000128791] [ENSMUST00000131108]
AlphaFold P97821
Predicted Effect probably damaging
Transcript: ENSMUST00000032779
AA Change: V95E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000032779
Gene: ENSMUSG00000030560
AA Change: V95E

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 possibly damaging
Transcript: ENSMUST00000128791
AA Change: V94E

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000119503
Gene: ENSMUSG00000030560
AA Change: V94E

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 probably damaging
Transcript: ENSMUST00000131108
AA Change: V95E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139159
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181565
Meta Mutation Damage Score 0.6132 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 91.4%
Validation Efficiency 98% (87/89)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A T 7: 40,642,480 (GRCm39) T141S probably benign Het
Abcg1 T A 17: 31,333,132 (GRCm39) I625N possibly damaging Het
Adam33 C A 2: 130,893,391 (GRCm39) probably benign Het
Adgrl2 A T 3: 148,528,617 (GRCm39) I1185N probably damaging Het
Afp A T 5: 90,649,486 (GRCm39) probably benign Het
Aggf1 A G 13: 95,501,356 (GRCm39) V342A probably benign Het
Ankrd11 A T 8: 123,619,789 (GRCm39) S1333R probably benign Het
Arhgef11 C A 3: 87,640,776 (GRCm39) S1311* probably null Het
Atp6v1g1 T C 4: 63,466,878 (GRCm39) Y47H probably benign Het
Atp8b4 T C 2: 126,165,013 (GRCm39) probably null Het
Barx2 A G 9: 31,770,327 (GRCm39) L67P probably damaging Het
Bbs7 G A 3: 36,627,706 (GRCm39) P694S probably benign Het
Btbd10 A T 7: 112,946,266 (GRCm39) V33E probably benign Het
C2 T C 17: 35,091,457 (GRCm39) T69A possibly damaging Het
C8b T G 4: 104,641,679 (GRCm39) L205R possibly damaging Het
Cct4 T G 11: 22,944,333 (GRCm39) N72K probably damaging Het
Cd300lg C A 11: 101,944,981 (GRCm39) P353H possibly damaging Het
Cdh20 A T 1: 104,875,222 (GRCm39) I335L possibly damaging Het
Cfhr2 T A 1: 139,738,757 (GRCm39) H268L probably benign Het
Chia1 T A 3: 106,036,255 (GRCm39) D278E probably benign Het
Cntn6 A G 6: 104,781,359 (GRCm39) T482A possibly damaging Het
Cst13 T A 2: 148,665,016 (GRCm39) F4I probably benign Het
Ddhd1 A T 14: 45,842,508 (GRCm39) probably null Het
Dmxl2 A T 9: 54,322,712 (GRCm39) probably null Het
Dnah5 A C 15: 28,402,059 (GRCm39) T3407P probably damaging Het
Dock1 T A 7: 134,735,665 (GRCm39) Y1344* probably null Het
Eif4g3 T C 4: 137,933,395 (GRCm39) V1740A probably damaging Het
Epb41l5 A G 1: 119,506,634 (GRCm39) probably benign Het
Flt4 C T 11: 49,527,166 (GRCm39) probably benign Het
Fnbp1l C T 3: 122,339,955 (GRCm39) R499Q probably damaging Het
Gm10033 T C 8: 69,826,022 (GRCm39) noncoding transcript Het
Gm12790 A G 4: 101,825,396 (GRCm39) L6P probably benign Het
Gramd4 A G 15: 86,009,397 (GRCm39) D210G probably damaging Het
Hectd3 T C 4: 116,859,466 (GRCm39) S697P possibly damaging Het
Hsf4 T C 8: 106,002,235 (GRCm39) V399A probably benign Het
Hyal6 T A 6: 24,743,434 (GRCm39) C377S probably damaging Het
Myb C T 10: 21,028,844 (GRCm39) V85M probably damaging Het
Mypn A G 10: 62,988,636 (GRCm39) V463A probably damaging Het
Nav1 T A 1: 135,388,163 (GRCm39) I1144L probably benign Het
Nckap5 A G 1: 125,942,398 (GRCm39) probably benign Het
Nipbl A T 15: 8,401,657 (GRCm39) S30T probably damaging Het
Nmt1 T C 11: 102,948,307 (GRCm39) F277S probably damaging Het
Nploc4 A C 11: 120,274,115 (GRCm39) probably benign Het
Nup54 C A 5: 92,576,080 (GRCm39) R137I probably damaging Het
Or52n2b T C 7: 104,565,963 (GRCm39) Y180C probably damaging Het
Oxtr C T 6: 112,454,138 (GRCm39) R42Q probably benign Het
Pkd1l1 G T 11: 8,804,487 (GRCm39) Y1701* probably null Het
Plekhg6 T C 6: 125,340,072 (GRCm39) T763A probably damaging Het
Pmepa1 C T 2: 173,070,368 (GRCm39) probably null Het
Ppfia2 A G 10: 106,666,518 (GRCm39) E408G possibly damaging Het
Pramel13 G A 4: 144,121,658 (GRCm39) T122M probably benign Het
Prl8a2 G A 13: 27,537,979 (GRCm39) V218I possibly damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rims4 C T 2: 163,705,849 (GRCm39) V262M possibly damaging Het
Shisal2b A T 13: 105,000,113 (GRCm39) C37S probably damaging Het
Slc13a1 A T 6: 24,118,082 (GRCm39) probably null Het
Slc17a8 T A 10: 89,427,076 (GRCm39) T342S probably damaging Het
Slc30a9 A G 5: 67,510,005 (GRCm39) E519G probably benign Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Slc39a5 G A 10: 128,233,610 (GRCm39) L296F probably damaging Het
Slco6b1 A C 1: 96,857,610 (GRCm39) noncoding transcript Het
Slco6d1 G A 1: 98,418,341 (GRCm39) G509D probably damaging Het
Spen A G 4: 141,199,132 (GRCm39) V3142A probably damaging Het
Spta1 T A 1: 174,050,250 (GRCm39) H1763Q probably damaging Het
Srcap T C 7: 127,159,124 (GRCm39) probably benign Het
Stard9 T C 2: 120,543,328 (GRCm39) probably benign Het
Stat4 A G 1: 52,111,106 (GRCm39) probably benign Het
Svbp T A 4: 119,053,225 (GRCm39) probably benign Het
Tm2d1 A T 4: 98,258,833 (GRCm39) probably benign Het
Trpv1 C A 11: 73,130,952 (GRCm39) probably null Het
Trrap A G 5: 144,794,232 (GRCm39) D3713G possibly damaging Het
Ubr1 T A 2: 120,786,125 (GRCm39) D165V probably benign Het
Utrn C A 10: 12,524,897 (GRCm39) M2195I probably benign Het
Vmn1r229 G A 17: 21,034,904 (GRCm39) V50I possibly damaging Het
Vmn1r44 A T 6: 89,870,632 (GRCm39) H126L probably benign Het
Vmn2r116 T C 17: 23,605,570 (GRCm39) probably benign Het
Vmn2r27 A C 6: 124,168,591 (GRCm39) Y846* probably null Het
Vmn2r84 T A 10: 130,227,859 (GRCm39) S126C possibly damaging Het
Xylb T A 9: 119,197,133 (GRCm39) probably benign Het
Zfp282 A T 6: 47,867,108 (GRCm39) K232* probably null Het
Zfp39 C A 11: 58,781,149 (GRCm39) V538L probably benign Het
Zfp560 T C 9: 20,263,149 (GRCm39) N76D possibly damaging Het
Zmym4 C T 4: 126,804,962 (GRCm39) V433I probably benign Het
Zscan5b A G 7: 6,233,425 (GRCm39) E83G 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
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
Predicted Primers PCR Primer
(F):5'- TGAATCCCAGTTAGGTTGCAAGGTTG -3'
(R):5'- ACAGGCAATGGTTCTTTACTCGTCAG -3'

Sequencing Primer
(F):5'- GGTTGCAAGGTTGAAAGTACCTTAC -3'
(R):5'- CCATTGGCTTTAAAAAGCTCCAGG -3'
Posted On 2014-03-14