Incidental Mutation 'R8694:Ctsz'
ID 668549
Institutional Source Beutler Lab
Gene Symbol Ctsz
Ensembl Gene ENSMUSG00000016256
Gene Name cathepsin Z
Synonyms CTSX, cathepsin X, D2Wsu143e
MMRRC Submission 068548-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R8694 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 174269287-174280832 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 174280072 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 67 (N67D)
Ref Sequence ENSEMBL: ENSMUSP00000016400 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016400]
AlphaFold Q9WUU7
Predicted Effect probably benign
Transcript: ENSMUST00000016400
AA Change: N67D

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000016400
Gene: ENSMUSG00000016256
AA Change: N67D

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pept_C1 64 301 5.46e-51 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (51/52)
MGI Phenotype FUNCTION: This gene encodes a member of the peptidase C1 (papain) family of cysteine proteases. The encoded preproprotein is proteolytically processed to generate a mature enzyme with carboxypeptidase activity. An enzymatically inactive form of the protein, that is associated with the propeptide, may be involved in cancer cell invasion and proliferation. Homozygous knockout mice for this gene exhibit impaired cancer cell invasion in a breast cancer model. [provided by RefSeq, Aug 2015]
PHENOTYPE: No abnormal pheotype detected in homozygous mutant mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adar T C 3: 89,642,950 (GRCm39) L277P probably damaging Het
Adgrb3 C A 1: 25,865,472 (GRCm39) D124Y probably damaging Het
Afdn T C 17: 14,108,641 (GRCm39) V1403A probably benign Het
Afg3l1 T C 8: 124,227,973 (GRCm39) V586A probably damaging Het
Ajm1 A G 2: 25,469,831 (GRCm39) S27P possibly damaging Het
Aloxe3 A G 11: 69,033,677 (GRCm39) D597G probably damaging Het
Asb15 T C 6: 24,570,666 (GRCm39) V548A probably benign Het
Atp6v1a C T 16: 43,921,991 (GRCm39) R388Q probably damaging Het
Btbd8 A G 5: 107,658,635 (GRCm39) D1735G probably benign Het
C130074G19Rik G A 1: 184,615,184 (GRCm39) T2M probably damaging Het
Ccdc187 T C 2: 26,165,505 (GRCm39) T884A probably benign Het
Cdk5rap1 G A 2: 154,195,148 (GRCm39) R356* probably null Het
Cebpz A T 17: 79,234,334 (GRCm39) H725Q probably damaging Het
Celsr2 T C 3: 108,314,176 (GRCm39) D1283G probably damaging Het
Cldn11 G T 3: 31,217,239 (GRCm39) V136F probably damaging Het
Cpxm2 T C 7: 131,681,783 (GRCm39) N249D probably benign Het
Drd3 A C 16: 43,643,075 (GRCm39) H405P probably damaging Het
F2rl2 T C 13: 95,837,339 (GRCm39) V128A probably benign Het
Fh1 C T 1: 175,448,126 (GRCm39) P43S probably benign Het
Fndc7 C T 3: 108,779,622 (GRCm39) W307* probably null Het
Gmip G T 8: 70,270,485 (GRCm39) V732L probably benign Het
Heatr4 A G 12: 84,027,038 (GRCm39) F73S probably damaging Het
Iqcf4 T C 9: 106,448,111 (GRCm39) probably benign Het
Itln1 T A 1: 171,359,279 (GRCm39) Q67L probably damaging Het
Jak1 A G 4: 101,013,704 (GRCm39) V1008A probably damaging Het
Kcnh1 A T 1: 191,921,031 (GRCm39) probably benign Het
Kcnu1 T G 8: 26,342,101 (GRCm39) probably benign Het
Kif1b A G 4: 149,305,024 (GRCm39) S967P probably damaging Het
Klra17 A G 6: 129,851,780 (GRCm39) S31P probably benign Het
Kmt2d C T 15: 98,742,615 (GRCm39) E4182K unknown Het
Lama5 T C 2: 179,822,677 (GRCm39) D2825G probably damaging Het
Lmtk2 T C 5: 144,108,566 (GRCm39) V336A probably damaging Het
Mad1l1 A G 5: 140,074,438 (GRCm39) I584T probably benign Het
Magea1 T A X: 153,871,787 (GRCm39) N313I possibly damaging Het
Mapt T C 11: 104,189,440 (GRCm39) S153P probably benign Het
Myo1e T C 9: 70,291,172 (GRCm39) Y988H probably benign Het
Ndufc2 A T 7: 97,049,403 (GRCm39) N3I probably benign Het
Nos2 T A 11: 78,836,515 (GRCm39) V531D possibly damaging Het
Npbwr1 T A 1: 5,986,617 (GRCm39) Y299F probably damaging Het
Or4a39 A G 2: 89,237,378 (GRCm39) L15P probably damaging Het
Or4a70 A G 2: 89,324,171 (GRCm39) Y162H possibly damaging Het
Or52n20 G T 7: 104,320,296 (GRCm39) C129F probably damaging Het
Or8h10 G A 2: 86,808,591 (GRCm39) P183L probably damaging Het
Pp2d1 T C 17: 53,815,191 (GRCm39) Y511C probably benign Het
Psmb4 T C 3: 94,793,435 (GRCm39) N149D probably benign Het
Setbp1 T C 18: 78,901,516 (GRCm39) K717R probably damaging Het
Slc25a11 T C 11: 70,535,630 (GRCm39) M303V probably benign Het
Spesp1 A T 9: 62,180,242 (GRCm39) M222K probably benign Het
Tmem132d A G 5: 127,869,495 (GRCm39) M613T probably benign Het
Ugt2a2 A G 5: 87,612,029 (GRCm39) F294L probably damaging Het
Usp34 A G 11: 23,434,161 (GRCm39) T3246A Het
Zfp750 T A 11: 121,404,456 (GRCm39) I140F possibly damaging Het
Zscan4e A T 7: 11,041,574 (GRCm39) H127Q possibly damaging Het
Other mutations in Ctsz
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00957:Ctsz APN 2 174,269,771 (GRCm39) missense probably damaging 0.99
IGL02574:Ctsz APN 2 174,270,891 (GRCm39) missense probably benign 0.16
IGL03342:Ctsz APN 2 174,270,933 (GRCm39) missense possibly damaging 0.92
IGL03348:Ctsz APN 2 174,270,490 (GRCm39) missense probably damaging 0.98
R1872:Ctsz UTSW 2 174,269,769 (GRCm39) missense probably benign
R4373:Ctsz UTSW 2 174,270,378 (GRCm39) missense possibly damaging 0.94
R4890:Ctsz UTSW 2 174,270,393 (GRCm39) missense probably damaging 1.00
R8135:Ctsz UTSW 2 174,270,946 (GRCm39) missense probably benign
R8783:Ctsz UTSW 2 174,280,675 (GRCm39) nonsense probably null
R8975:Ctsz UTSW 2 174,275,421 (GRCm39) missense probably benign 0.12
Predicted Primers PCR Primer
(F):5'- ATGGCTATCATGGCTCACCTAAAG -3'
(R):5'- TCTGAACCGACCACAGTTTG -3'

Sequencing Primer
(F):5'- TGGTGAAGTGCAGCCAC -3'
(R):5'- CCACAGTTTGGGAAGAAGGCC -3'
Posted On 2021-04-30