Incidental Mutation 'R5917:Ctss'
ID 461382
Institutional Source Beutler Lab
Gene Symbol Ctss
Ensembl Gene ENSMUSG00000038642
Gene Name cathepsin S
Synonyms Cat S
MMRRC Submission 044114-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # R5917 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 95434097-95463714 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 95450424 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 125 (D125G)
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 probably benign
Transcript: ENSMUST00000015667
AA Change: D126G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000015667
Gene: ENSMUSG00000038642
AA Change: D126G

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 probably benign
Transcript: ENSMUST00000116304
AA Change: D125G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000112006
Gene: ENSMUSG00000038642
AA Change: D125G

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: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T A 12: 118,832,516 (GRCm39) R1153* probably null Het
Amdhd1 T C 10: 93,360,332 (GRCm39) H409R possibly damaging Het
Anks1b C T 10: 90,412,803 (GRCm39) probably benign Het
Ascc2 T C 11: 4,631,506 (GRCm39) L649P probably benign Het
Chst15 A G 7: 131,872,246 (GRCm39) F12L probably benign Het
Clec4a4 A T 6: 122,981,017 (GRCm39) K83N probably benign Het
Comp T A 8: 70,829,011 (GRCm39) probably null Het
Cryz T A 3: 154,327,403 (GRCm39) S144T probably benign Het
Dact1 G T 12: 71,365,456 (GRCm39) V746L possibly damaging Het
Dhx29 A G 13: 113,099,377 (GRCm39) H1134R probably damaging Het
Dlgap4 A G 2: 156,546,460 (GRCm39) D376G probably damaging Het
Dnah3 T A 7: 119,615,749 (GRCm39) H1660L probably damaging Het
Ep300 T A 15: 81,512,808 (GRCm39) probably benign Het
Fbxo30 A T 10: 11,165,262 (GRCm39) probably null Het
Fcrl2 T A 3: 87,164,094 (GRCm39) H345L probably damaging Het
Galnt11 C A 5: 25,452,670 (GRCm39) probably null Het
Il31ra A G 13: 112,682,846 (GRCm39) C87R probably benign Het
Itga4 A T 2: 79,117,442 (GRCm39) Q416L probably damaging Het
Kcnt2 A T 1: 140,461,666 (GRCm39) T806S probably damaging Het
Lama2 A G 10: 27,066,693 (GRCm39) S1063P probably damaging Het
Lama4 T A 10: 38,924,028 (GRCm39) S479T probably benign Het
Lgi4 C T 7: 30,759,603 (GRCm39) T53M possibly damaging Het
Limk1 A G 5: 134,686,789 (GRCm39) F533L probably damaging Het
Loxl1 A G 9: 58,220,006 (GRCm39) L55P probably damaging Het
Map1a A G 2: 121,135,697 (GRCm39) E1933G probably damaging Het
Matn2 T A 15: 34,409,912 (GRCm39) C447* probably null Het
Mmrn1 T C 6: 60,950,134 (GRCm39) probably null Het
Or2a7 C T 6: 43,151,646 (GRCm39) S242F probably damaging Het
Or4a66 A T 2: 88,531,049 (GRCm39) I208N possibly damaging Het
Or4d1 A T 11: 87,805,215 (GRCm39) N172K probably damaging Het
Otor A G 2: 142,920,431 (GRCm39) I4M probably benign Het
P2rx3 A T 2: 84,865,591 (GRCm39) V18E probably damaging Het
Pcdh7 T C 5: 57,879,097 (GRCm39) V884A probably damaging Het
Pcdhb4 T A 18: 37,442,619 (GRCm39) V643D probably damaging Het
Pelo A G 13: 115,225,930 (GRCm39) S176P possibly damaging Het
Ppp2r3d A T 9: 101,089,183 (GRCm39) V380E probably benign Het
Proc T A 18: 32,260,513 (GRCm39) D204V probably benign Het
Prpsap2 C T 11: 61,627,870 (GRCm39) R202H probably damaging Het
Resf1 T C 6: 149,236,179 (GRCm39) F1500L probably damaging Het
Rtl1 T G 12: 109,558,087 (GRCm39) T1251P possibly damaging Het
Sema6a T G 18: 47,414,405 (GRCm39) I482L probably benign Het
Smpdl3a T A 10: 57,681,654 (GRCm39) probably null Het
Strc T A 2: 121,209,790 (GRCm39) M178L probably benign Het
Taok1 A T 11: 77,451,144 (GRCm39) M312K probably damaging Het
Tle2 T C 10: 81,416,750 (GRCm39) probably null Het
Tle3 A G 9: 61,316,190 (GRCm39) D296G probably benign Het
Trank1 A G 9: 111,191,485 (GRCm39) D498G probably benign Het
Vars1 C A 17: 35,231,491 (GRCm39) L672M probably damaging Het
Vps13d G A 4: 144,826,580 (GRCm39) T2866I probably damaging Het
Zfp423 C A 8: 88,508,860 (GRCm39) E370* probably null Het
Zfp521 T A 18: 13,978,612 (GRCm39) K600N probably damaging Het
Zfp788 A G 7: 41,298,572 (GRCm39) K351E probably benign Het
Zfp963 A T 8: 70,195,510 (GRCm39) probably null Het
Zscan29 G T 2: 120,994,518 (GRCm39) T489N 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
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
Predicted Primers PCR Primer
(F):5'- TCAAGTGGGTACAACTACCAC -3'
(R):5'- CCCTTAGGATGTAGTTGGGCAG -3'

Sequencing Primer
(F):5'- GCGAACTGATTCCTGCAAGATGTTC -3'
(R):5'- CCTTAGGATGTAGTTGGGCAGATGAG -3'
Posted On 2017-02-28