Incidental Mutation 'IGL02709:Ctsc'
ID304493
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ctsc
Ensembl Gene ENSMUSG00000030560
Gene Namecathepsin C
SynonymsDPPI, dipeptidylpeptidase 1, DPP1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.087) question?
Stock #IGL02709
Quality Score
Status
Chromosome7
Chromosomal Location88278085-88310888 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 88308139 bp
ZygosityHeterozygous
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]
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
Aco1 G A 4: 40,180,199 V367M possibly damaging Het
Acsm5 G A 7: 119,534,818 W274* probably null Het
Ago1 G A 4: 126,453,640 Q135* probably null Het
AI314180 A G 4: 58,872,699 S201P possibly damaging Het
Bmpr1b A T 3: 141,856,553 L291Q probably damaging Het
Cdcp1 A G 9: 123,173,814 Y731H probably damaging Het
Clrn2 A G 5: 45,460,153 N122S probably damaging Het
Col4a3 G T 1: 82,679,112 G751W unknown Het
Cyp26a1 T C 19: 37,699,978 L316P probably damaging Het
Dennd6b A T 15: 89,190,922 probably benign Het
Dnah10 T A 5: 124,773,745 Y1659* probably null Het
Dspp A C 5: 104,177,250 D493A unknown Het
Dyrk1a C T 16: 94,685,243 A445V probably benign Het
E030025P04Rik C A 11: 109,139,498 probably benign Het
Foxd4 T C 19: 24,899,609 H409R probably damaging Het
Fubp3 A G 2: 31,595,331 probably benign Het
Gm5538 A G 3: 59,747,198 Y151C probably damaging Het
Herc1 A G 9: 66,497,680 K4511E probably damaging Het
Ifna1 A G 4: 88,850,286 D67G probably benign Het
Map1lc3b T A 8: 121,596,029 L82Q probably damaging Het
Mcc A T 18: 44,445,810 S844T possibly damaging Het
Mccc1 A T 3: 35,990,739 *85K probably null Het
Memo1 G A 17: 74,245,032 L90F probably damaging Het
Mfrp A G 9: 44,103,264 H236R probably benign Het
Mmrn1 G A 6: 60,973,046 D327N probably damaging Het
Mycbp2 T C 14: 103,155,261 E3178G probably damaging Het
Pcsk9 A G 4: 106,447,689 probably benign Het
Pros1 T C 16: 62,898,945 L110P probably damaging Het
Reck A G 4: 43,913,791 Y215C probably damaging Het
Ripk4 T C 16: 97,743,566 D627G probably damaging Het
Rnf144a G T 12: 26,321,010 H151N probably damaging Het
Slc39a9 T A 12: 80,666,647 H106Q probably damaging Het
Stab2 A G 10: 86,846,165 probably benign Het
Sympk T G 7: 19,047,538 H806Q probably benign Het
Tars2 C A 3: 95,742,071 probably benign Het
Thap3 T A 4: 151,985,712 H75L probably damaging Het
Trappc8 T C 18: 20,837,178 I918M possibly damaging Het
Ube2j2 T C 4: 155,957,331 V249A probably damaging Het
Ubqln3 T G 7: 104,141,336 T516P probably benign Het
Unc13c A G 9: 73,558,956 S1810P probably benign Het
Vmn1r4 T A 6: 56,956,539 Y9* probably null Het
Vmn1r89 T A 7: 13,220,204 M221K probably damaging Het
Vmn2r1 G T 3: 64,104,934 V739F probably benign Het
Vmn2r25 C T 6: 123,839,764 R286Q possibly damaging Het
Vmn2r91 T A 17: 18,105,449 Y110N possibly damaging Het
Zbtb48 T C 4: 152,021,394 H418R probably damaging Het
Other mutations in Ctsc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01147:Ctsc APN 7 88302271 missense possibly damaging 0.78
IGL03103:Ctsc APN 7 88309805 missense probably benign
IGL03117:Ctsc APN 7 88309780 missense probably damaging 0.99
R0071:Ctsc UTSW 7 88308149 unclassified probably benign
R0334:Ctsc UTSW 7 88278342 missense possibly damaging 0.81
R0587:Ctsc UTSW 7 88297229 missense probably benign 0.35
R1006:Ctsc UTSW 7 88309829 missense probably damaging 1.00
R1401:Ctsc UTSW 7 88281498 missense probably damaging 1.00
R1472:Ctsc UTSW 7 88281462 missense possibly damaging 0.88
R1602:Ctsc UTSW 7 88278304 missense possibly damaging 0.77
R1650:Ctsc UTSW 7 88281426 nonsense probably null
R1656:Ctsc UTSW 7 88281408 missense possibly damaging 0.64
R1808:Ctsc UTSW 7 88299542 missense possibly damaging 0.49
R3848:Ctsc UTSW 7 88309610 missense probably benign 0.01
R4154:Ctsc UTSW 7 88299547 missense probably benign 0.01
R4614:Ctsc UTSW 7 88278375 critical splice donor site probably null
R5313:Ctsc UTSW 7 88309553 missense probably damaging 1.00
R6863:Ctsc UTSW 7 88302278 nonsense probably null
R6949:Ctsc UTSW 7 88281458 missense probably damaging 1.00
R7220:Ctsc UTSW 7 88297153 missense probably damaging 1.00
R7244:Ctsc UTSW 7 88302222 missense probably benign
R7254:Ctsc UTSW 7 88309559 missense probably damaging 1.00
Posted On2015-04-16