Incidental Mutation 'R9356:Ctss'
ID 708399
Institutional Source Beutler Lab
Gene Symbol Ctss
Ensembl Gene ENSMUSG00000038642
Gene Name cathepsin S
Synonyms Cat S
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # R9356 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 95434097-95463714 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 95454120 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Proline at position 224 (H224P)
Ref Sequence ENSEMBL: ENSMUSP00000015667 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015667] [ENSMUST00000116304]
AlphaFold O70370
Predicted Effect possibly damaging
Transcript: ENSMUST00000015667
AA Change: H224P

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000015667
Gene: ENSMUSG00000038642
AA Change: H224P

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Inhibitor_I29 39 99 2.3e-27 SMART
Pept_C1 126 342 2.3e-122 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000116304
AA Change: H223P

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112006
Gene: ENSMUSG00000038642
AA Change: H223P

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Inhibitor_I29 36 96 3.01e-23 SMART
Pept_C1 123 339 6.79e-120 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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, which encode preproproteins that are proteolytically processed to generate mature protein products. This enzyme is secreted by antigen-presenting cells during inflammation and may induce pain and itch via activation of G-protein coupled receptors. Homozygous knockout mice for this gene exhibit impaired wound healing, reduced tumorigenesis in a pancreatic cancer model, and reduced pathogenesis in a myasthenia gravis model. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygous null mice are resistant to the development of experimental autoimmune myasthenia gravis and showed reduced T and B cell responses to acetylcholine receptor. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 G A 11: 9,206,305 (GRCm39) V202M probably benign Het
Ago3 A T 4: 126,264,144 (GRCm39) I354N probably damaging Het
Ankrd50 A T 3: 38,510,236 (GRCm39) D710E probably damaging Het
Apba2 A T 7: 64,345,421 (GRCm39) N204Y probably damaging Het
Arrdc4 A G 7: 68,394,627 (GRCm39) V139A possibly damaging Het
Baz1b A G 5: 135,239,653 (GRCm39) E251G probably benign Het
Calcr T C 6: 3,687,408 (GRCm39) D530G probably benign Het
Chrna7 A T 7: 62,757,437 (GRCm39) V154E probably damaging Het
Cldn15 T C 5: 136,996,968 (GRCm39) V3A probably benign Het
Csmd1 A T 8: 16,252,069 (GRCm39) L929Q probably damaging Het
Cyp4a12a C A 4: 115,185,915 (GRCm39) H408N probably benign Het
Gm10549 C T 18: 33,597,375 (GRCm39) P54S unknown Het
Gpr162 T C 6: 124,838,297 (GRCm39) M118V possibly damaging Het
Ifnar1 C T 16: 91,292,367 (GRCm39) P207L probably benign Het
Igfn1 A T 1: 135,899,825 (GRCm39) C495* probably null Het
Ints9 T C 14: 65,269,770 (GRCm39) S487P probably benign Het
Jmjd4 T A 11: 59,345,761 (GRCm39) D280E probably benign Het
Krtap1-4 G A 11: 99,474,169 (GRCm39) Q96* probably null Het
Ksr2 T A 5: 117,827,706 (GRCm39) I495N probably benign Het
Lama2 T A 10: 27,088,186 (GRCm39) N864Y probably damaging Het
Lce1f TCCACAGCAGCCACTGCTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTGCT TCCACAGCAGCCACTGCTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTGCT 3: 92,626,272 (GRCm39) probably benign Het
Lig4 A G 8: 10,022,538 (GRCm39) V414A possibly damaging Het
Lman2l A G 1: 36,467,415 (GRCm39) F211S probably damaging Het
Lmtk3 A G 7: 45,443,312 (GRCm39) E665G probably damaging Het
Mdm4 G A 1: 132,938,837 (GRCm39) L86F probably damaging Het
Mfsd10 C A 5: 34,794,048 (GRCm39) E22* probably null Het
Mindy1 C T 3: 95,202,590 (GRCm39) L394F probably benign Het
Mroh4 T C 15: 74,482,760 (GRCm39) M735V probably benign Het
Myo7a T A 7: 97,725,873 (GRCm39) M1060L probably benign Het
Myo7b C A 18: 32,110,096 (GRCm39) S1122I probably damaging Het
Nudt17 T A 3: 96,613,688 (GRCm39) R313S probably damaging Het
Or52n5 A G 7: 104,588,373 (GRCm39) I213M probably benign Het
Or5w15 T A 2: 87,568,089 (GRCm39) Q193L probably benign Het
Or6c65 T G 10: 129,604,035 (GRCm39) I223M possibly damaging Het
Or8h7 T A 2: 86,720,605 (GRCm39) M305L probably benign Het
Otogl T C 10: 107,617,890 (GRCm39) Y1741C probably damaging Het
Pja2 A G 17: 64,618,204 (GRCm39) V65A probably damaging Het
Primpol A G 8: 47,043,318 (GRCm39) V325A probably benign Het
Prss36 T C 7: 127,545,697 (GRCm39) probably benign Het
Ptpn20 T G 14: 33,352,865 (GRCm39) Y201* probably null Het
Rundc3a T C 11: 102,292,890 (GRCm39) S428P probably damaging Het
Rxra T A 2: 27,649,675 (GRCm39) L460Q probably damaging Het
Sdsl C T 5: 120,597,948 (GRCm39) V182M probably damaging Het
Slc14a2 A C 18: 78,227,823 (GRCm39) I226S probably null Het
Spam1 T A 6: 24,800,565 (GRCm39) C435S probably damaging Het
Spata31h1 T C 10: 82,125,157 (GRCm39) K2618E possibly damaging Het
Stbd1 A G 5: 92,753,277 (GRCm39) T256A possibly damaging Het
Ttc39c T A 18: 12,853,102 (GRCm39) probably null Het
Uba3 T C 6: 97,161,811 (GRCm39) D440G probably benign Het
Ythdf1 A C 2: 180,553,998 (GRCm39) S72R probably benign Het
Zfp770 T C 2: 114,026,917 (GRCm39) E384G possibly damaging Het
Zfp979 G T 4: 147,698,358 (GRCm39) T117K probably damaging Het
Other mutations in Ctss
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01140:Ctss APN 3 95,446,036 (GRCm39) missense probably damaging 1.00
IGL02162:Ctss APN 3 95,454,132 (GRCm39) missense probably benign 0.26
IGL03026:Ctss APN 3 95,446,141 (GRCm39) missense probably benign 0.01
IGL03219:Ctss APN 3 95,450,411 (GRCm39) missense possibly damaging 0.88
clip UTSW 3 95,452,695 (GRCm39) nonsense probably null
R0025:Ctss UTSW 3 95,457,448 (GRCm39) missense probably damaging 1.00
R0025:Ctss UTSW 3 95,457,448 (GRCm39) missense probably damaging 1.00
R0033:Ctss UTSW 3 95,452,888 (GRCm39) splice site probably benign
R0033:Ctss UTSW 3 95,452,888 (GRCm39) splice site probably benign
R1844:Ctss UTSW 3 95,454,105 (GRCm39) critical splice acceptor site probably null
R2866:Ctss UTSW 3 95,452,717 (GRCm39) missense probably benign 0.04
R4061:Ctss UTSW 3 95,450,345 (GRCm39) missense probably benign 0.34
R4846:Ctss UTSW 3 95,452,695 (GRCm39) nonsense probably null
R5917:Ctss UTSW 3 95,450,424 (GRCm39) missense probably benign 0.00
R6443:Ctss UTSW 3 95,454,114 (GRCm39) missense probably benign 0.00
R6555:Ctss UTSW 3 95,450,340 (GRCm39) nonsense probably null
R7391:Ctss UTSW 3 95,436,852 (GRCm39) missense probably benign
R8007:Ctss UTSW 3 95,457,465 (GRCm39) missense probably null 1.00
R9088:Ctss UTSW 3 95,436,867 (GRCm39) missense possibly damaging 0.48
R9398:Ctss UTSW 3 95,454,258 (GRCm39) missense possibly damaging 0.82
R9522:Ctss UTSW 3 95,454,109 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CTTGTCCAGCTTGAGTCAGTG -3'
(R):5'- AAGGTTCCAGATGCTCAGCC -3'

Sequencing Primer
(F):5'- CCAGCTTGAGTCAGTGTTTACAAAC -3'
(R):5'- CCAGATGCTCAGCCTATATTAAGGG -3'
Posted On 2022-04-18