Incidental Mutation 'IGL03219:Ctss'
ID 413581
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ctss
Ensembl Gene ENSMUSG00000038642
Gene Name cathepsin S
Synonyms Cat S
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # IGL03219
Quality Score
Status
Chromosome 3
Chromosomal Location 95434097-95463714 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 95450411 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 121 (R121W)
Ref Sequence ENSEMBL: ENSMUSP00000112006 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015667] [ENSMUST00000116304]
AlphaFold O70370
PDB Structure MOUSE CATHEPSIN S WITH COVALENT LIGAND [X-RAY DIFFRACTION]
MOUSE CATHEPSIN S WITH COVALENT LIGAND [X-RAY DIFFRACTION]
MOUSE CATHEPSIN S WITH COVALENT LIGAND [X-RAY DIFFRACTION]
MOUSE CATHEPSIN S WITH COVALENT LIGAND [X-RAY DIFFRACTION]
MOUSE CATHEPSIN S WITH COVALENT LIGAND [X-RAY DIFFRACTION]
Mouse cathepsin s with covalent ligand (3S,4S)-N-[(2E)-2-IMINOETHYL]-4-(MORPHOLIN-4-YLCARBONYL)-1-(PHENYLSULFONYL)PYRROLIDINE-3-CARBOXAMIDE [X-RAY DIFFRACTION]
Mouse cathepsin s with covalent ligand (3S,4S)-1-[(2-CHLOROPHENYL)SULFONYL]-N-[(2E)-2-IMINOETHYL]-4-(MORPHOLIN-4-YLCARBONYL)PYRROLIDINE-3-CARBOXAMIDE [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000015667
AA Change: R122W

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000015667
Gene: ENSMUSG00000038642
AA Change: R122W

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: R121W

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112006
Gene: ENSMUSG00000038642
AA Change: R121W

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
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Clasp2 T C 9: 113,677,545 (GRCm39) probably benign Het
Cyp2c67 A T 19: 39,631,738 (GRCm39) M153K possibly damaging Het
Cyp2d34 T C 15: 82,502,740 (GRCm39) H162R probably benign Het
Dynlrb2 A T 8: 117,241,635 (GRCm39) I60F probably benign Het
E4f1 C T 17: 24,664,419 (GRCm39) probably null Het
Fzd6 T A 15: 38,894,971 (GRCm39) V379E probably damaging Het
Galnt13 T C 2: 54,823,447 (GRCm39) V341A possibly damaging Het
Hip1 T C 5: 135,485,904 (GRCm39) S100G probably benign Het
Ncapd3 T C 9: 26,975,169 (GRCm39) probably benign Het
Obox3 G A 7: 15,359,803 (GRCm39) L289F probably damaging Het
Or52s6 C T 7: 103,091,745 (GRCm39) G195E possibly damaging Het
Or8b50 G T 9: 38,518,247 (GRCm39) C162F probably benign Het
Pkhd1l1 G A 15: 44,460,291 (GRCm39) E4167K possibly damaging Het
Pphln1 T C 15: 93,363,136 (GRCm39) probably benign Het
Ranbp6 A T 19: 29,787,680 (GRCm39) W891R probably damaging Het
Rgs22 A T 15: 36,107,194 (GRCm39) L64Q probably damaging Het
Ripor2 A T 13: 24,907,702 (GRCm39) Y991F probably damaging Het
Senp2 T A 16: 21,833,014 (GRCm39) probably benign Het
Slc44a3 G A 3: 121,257,169 (GRCm39) T508I probably damaging Het
Tdrd6 T C 17: 43,938,855 (GRCm39) D731G probably benign Het
Thnsl1 T A 2: 21,217,217 (GRCm39) C324S probably benign Het
Tnfrsf11b A T 15: 54,117,574 (GRCm39) L227* probably null Het
Tulp4 T C 17: 6,189,285 (GRCm39) C36R 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
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
R9356:Ctss UTSW 3 95,454,120 (GRCm39) missense possibly damaging 0.88
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
Posted On 2016-08-02