Incidental Mutation 'R0334:Ctsc'
ID 26121
Institutional Source Beutler Lab
Gene Symbol Ctsc
Ensembl Gene ENSMUSG00000030560
Gene Name cathepsin C
Synonyms dipeptidylpeptidase 1, DPPI, DPP1
MMRRC Submission 038543-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R0334 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 87927293-87960096 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 87927550 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Isoleucine at position 47 (S47I)
Ref Sequence ENSEMBL: ENSMUSP00000147006 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032779] [ENSMUST00000128791] [ENSMUST00000131108]
AlphaFold P97821
Predicted Effect probably benign
Transcript: ENSMUST00000032779
AA Change: S47I

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000032779
Gene: ENSMUSG00000030560
AA Change: S47I

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
AA Change: S47I

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000119503
Gene: ENSMUSG00000030560
AA Change: S47I

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 possibly damaging
Transcript: ENSMUST00000131108
AA Change: S47I

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139159
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181565
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.6%
Validation Efficiency 99% (68/69)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aggf1 T C 13: 95,508,105 (GRCm39) N87S probably benign Het
Ap2b1 T C 11: 83,258,700 (GRCm39) probably benign Het
Arfgef3 A G 10: 18,468,029 (GRCm39) Y1724H probably damaging Het
Arhgef10l G A 4: 140,311,237 (GRCm39) Q243* probably null Het
Atp8a2 A T 14: 59,928,961 (GRCm39) F1031Y probably damaging Het
Bmp8b A G 4: 123,008,553 (GRCm39) probably null Het
Brinp2 G T 1: 158,123,155 (GRCm39) T37K probably benign Het
Bsph1 T A 7: 13,184,864 (GRCm39) L9* probably null Het
C6 T G 15: 4,784,849 (GRCm39) N238K probably benign Het
Cbs T C 17: 31,838,130 (GRCm39) D373G probably damaging Het
Clec4a3 T C 6: 122,946,329 (GRCm39) F191S possibly damaging Het
Cpz A G 5: 35,661,025 (GRCm39) V530A probably damaging Het
Cyp7b1 T G 3: 18,157,960 (GRCm39) Y53S probably damaging Het
Dach1 C T 14: 98,406,184 (GRCm39) G188R probably damaging Het
Defb4 T C 8: 19,251,220 (GRCm39) I29T probably benign Het
Disc1 A T 8: 125,987,836 (GRCm39) probably null Het
Dnah2 A G 11: 69,327,662 (GRCm39) M3429T probably damaging Het
Dnah7a A T 1: 53,472,213 (GRCm39) I3518N possibly damaging Het
Dnah8 A T 17: 31,090,325 (GRCm39) H4609L probably damaging Het
Evi5 C A 5: 107,968,401 (GRCm39) C182F probably damaging Het
Fam149b G A 14: 20,413,492 (GRCm39) R237H probably damaging Het
Fut8 T A 12: 77,440,536 (GRCm39) D174E possibly damaging Het
Ghr T C 15: 3,370,580 (GRCm39) probably benign Het
Gm10801 G C 2: 98,494,352 (GRCm39) R143T possibly damaging Het
Gpr176 T C 2: 118,110,189 (GRCm39) S357G probably benign Het
Grwd1 A T 7: 45,476,601 (GRCm39) probably null Het
H2-T24 A G 17: 36,325,772 (GRCm39) V273A possibly damaging Het
Hdac4 A C 1: 91,883,760 (GRCm39) probably benign Het
Herc3 A G 6: 58,895,802 (GRCm39) T1017A probably damaging Het
Hsd11b1 T C 1: 192,924,476 (GRCm39) probably benign Het
Igsf23 T C 7: 19,675,678 (GRCm39) S143G probably benign Het
Kbtbd12 T A 6: 88,594,888 (GRCm39) Y314F probably damaging Het
Kcnmb2 A G 3: 32,252,508 (GRCm39) probably null Het
Kdm5b A G 1: 134,532,260 (GRCm39) I479M probably damaging Het
Kidins220 A G 12: 25,058,068 (GRCm39) T600A probably damaging Het
Mrgprb2 A C 7: 48,202,077 (GRCm39) I216S probably damaging Het
Muc21 A G 17: 35,933,614 (GRCm39) probably benign Het
Myo1g A G 11: 6,461,084 (GRCm39) probably benign Het
Nrxn3 T C 12: 89,780,412 (GRCm39) probably null Het
Or2ag2 A G 7: 106,485,622 (GRCm39) V134A probably benign Het
Or8b54 A T 9: 38,686,535 (GRCm39) probably null Het
Or8g26 A G 9: 39,095,980 (GRCm39) I169V probably benign Het
Pdia5 A T 16: 35,284,760 (GRCm39) S66T possibly damaging Het
Plec T C 15: 76,062,206 (GRCm39) E2604G probably damaging Het
Plekha6 G T 1: 133,209,918 (GRCm39) A654S probably benign Het
Pnpla2 G A 7: 141,039,433 (GRCm39) probably null Het
Pramel19 T C 4: 101,798,781 (GRCm39) F251L probably benign Het
Prb1c T A 6: 132,341,021 (GRCm39) Q17L unknown Het
Prkdc A G 16: 15,554,663 (GRCm39) D2128G probably benign Het
Rabggta A T 14: 55,958,268 (GRCm39) L131Q probably damaging Het
Rbks A T 5: 31,781,863 (GRCm39) Y312* probably null Het
Rnf139 A G 15: 58,771,322 (GRCm39) Y449C probably damaging Het
Sanbr A G 11: 23,567,129 (GRCm39) probably benign Het
Sbno1 A G 5: 124,524,931 (GRCm39) V1058A possibly damaging Het
Sema3a A T 5: 13,607,268 (GRCm39) N321I probably damaging Het
Slit3 T A 11: 35,469,928 (GRCm39) V310E probably damaging Het
Slitrk5 T C 14: 111,918,256 (GRCm39) S627P probably benign Het
Stat2 T A 10: 128,113,736 (GRCm39) F172I probably damaging Het
Tchh C A 3: 93,352,923 (GRCm39) R788S unknown Het
Tnks T A 8: 35,320,413 (GRCm39) K753* probably null Het
Trank1 T A 9: 111,194,421 (GRCm39) V815D probably benign Het
Trank1 T A 9: 111,222,008 (GRCm39) I2915N probably damaging Het
Trpc6 T C 9: 8,610,344 (GRCm39) S271P probably damaging Het
Trpm5 T C 7: 142,640,613 (GRCm39) Q213R probably benign Het
Ulk3 C T 9: 57,501,510 (GRCm39) probably benign Het
Usp31 T C 7: 121,258,185 (GRCm39) D694G probably damaging Het
Wnt3a A G 11: 59,147,144 (GRCm39) S181P probably damaging Het
Yipf3 T C 17: 46,559,238 (GRCm39) F22S possibly damaging Het
Zbtb40 A T 4: 136,713,867 (GRCm39) H1094Q 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
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
Predicted Primers PCR Primer
(F):5'- TGGGTATTTTAAGGCGGGAGCCAC -3'
(R):5'- CAGCAGCTCAAATTCAACTTAGCGG -3'

Sequencing Primer
(F):5'- CCATCGAGTGGTGTTCCAG -3'
(R):5'- AATTCAACTTAGCGGCCCTG -3'
Posted On 2013-04-16