Incidental Mutation 'R8135:Ctsz'
ID 632212
Institutional Source Beutler Lab
Gene Symbol Ctsz
Ensembl Gene ENSMUSG00000016256
Gene Name cathepsin Z
Synonyms CTSX, cathepsin X, D2Wsu143e
MMRRC Submission 067563-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R8135 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 174269287-174280832 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 174270946 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 183 (T183A)
Ref Sequence ENSEMBL: ENSMUSP00000016400 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016397] [ENSMUST00000016400] [ENSMUST00000109075]
AlphaFold Q9WUU7
Predicted Effect probably benign
Transcript: ENSMUST00000016397
SMART Domains Protein: ENSMUSP00000016397
Gene: ENSMUSG00000016253

DomainStartEndE-ValueType
Pfam:TH1 11 604 6.5e-276 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000016400
AA Change: T183A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000016400
Gene: ENSMUSG00000016256
AA Change: T183A

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pept_C1 64 301 5.46e-51 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109075
SMART Domains Protein: ENSMUSP00000104703
Gene: ENSMUSG00000016253

DomainStartEndE-ValueType
Pfam:TH1 10 590 5.6e-303 PFAM
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.7%
  • 20x: 95.8%
Validation Efficiency
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl3 A G 1: 78,674,712 (GRCm39) I420V probably benign Het
Adam7 A T 14: 68,754,022 (GRCm39) M359K probably damaging Het
Adra1d C T 2: 131,403,692 (GRCm39) A133T probably damaging Het
B3galnt2 T A 13: 14,145,454 (GRCm39) probably null Het
Camk1g A G 1: 193,036,335 (GRCm39) V175A possibly damaging Het
Cfi A G 3: 129,648,649 (GRCm39) N178D probably benign Het
Csf2rb T A 15: 78,232,319 (GRCm39) I542K possibly damaging Het
Dhx8 A G 11: 101,629,090 (GRCm39) D213G unknown Het
Dph7 T C 2: 24,859,556 (GRCm39) I271T probably benign Het
Edem1 G T 6: 108,806,022 (GRCm39) E108* probably null Het
Enpp4 T C 17: 44,412,226 (GRCm39) T328A probably benign Het
Fasl A G 1: 161,614,697 (GRCm39) V122A probably benign Het
Fut2 T C 7: 45,300,566 (GRCm39) T69A probably damaging Het
Gaa T C 11: 119,169,210 (GRCm39) probably null Het
Galnt5 T A 2: 57,904,880 (GRCm39) V481D probably damaging Het
Gsdma2 A G 11: 98,542,872 (GRCm39) I211V probably benign Het
H2-M10.4 T C 17: 36,772,662 (GRCm39) T107A probably benign Het
Iqcg T A 16: 32,849,394 (GRCm39) K297N probably benign Het
Map2 A G 1: 66,452,828 (GRCm39) T573A probably damaging Het
Nhsl1 A G 10: 18,407,180 (GRCm39) D1438G probably damaging Het
Nipal2 A T 15: 34,678,719 (GRCm39) Y41N possibly damaging Het
Obscn A T 11: 58,922,703 (GRCm39) S5878T possibly damaging Het
Pde6a T C 18: 61,418,996 (GRCm39) F791L probably damaging Het
Phip A T 9: 82,812,427 (GRCm39) N308K probably benign Het
Pigc A G 1: 161,798,134 (GRCm39) K39E possibly damaging Het
Robo2 T G 16: 73,730,048 (GRCm39) I1050L probably benign Het
Rps2 A G 17: 24,939,409 (GRCm39) K54E probably benign Het
Set T A 2: 29,959,439 (GRCm39) D137E probably benign Het
Sipa1l1 A G 12: 82,388,075 (GRCm39) I100M probably benign Het
Spdye4b T C 5: 143,180,777 (GRCm39) V81A probably damaging Het
Tbc1d2 T C 4: 46,609,071 (GRCm39) D722G probably benign Het
Tecpr1 T A 5: 144,135,420 (GRCm39) D1011V probably damaging Het
Unc80 A T 1: 66,548,446 (GRCm39) I573F possibly damaging Het
Vmn1r74 T A 7: 11,581,530 (GRCm39) C277S probably benign Het
Vwa1 T A 4: 155,857,351 (GRCm39) D149V probably damaging Het
Zfp397 T A 18: 24,089,564 (GRCm39) V23E probably damaging Het
Zmynd8 T C 2: 165,654,346 (GRCm39) D722G probably 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
R8694:Ctsz UTSW 2 174,280,072 (GRCm39) missense probably benign 0.01
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'- TGTGGTACTCAAGCTAGGGG -3'
(R):5'- AGCATGTAATTAGGGAGCACC -3'

Sequencing Primer
(F):5'- TACTCAAGCTAGGGGGTCAC -3'
(R):5'- ACCTGAGCTGGATGGCTTC -3'
Posted On 2020-06-30