Incidental Mutation 'R2866:Ctss'
ID 253216
Institutional Source Beutler Lab
Gene Symbol Ctss
Ensembl Gene ENSMUSG00000038642
Gene Name cathepsin S
Synonyms Cat S
MMRRC Submission 040455-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # R2866 (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 95452717 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 166 (K166R)
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: K167R

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000015667
Gene: ENSMUSG00000038642
AA Change: K167R

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: K166R

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000112006
Gene: ENSMUSG00000038642
AA Change: K166R

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atmin T A 8: 117,683,112 (GRCm39) D257E probably benign Het
Best1 T C 19: 9,963,585 (GRCm39) E532G probably benign Het
Cenpj T C 14: 56,789,637 (GRCm39) H804R probably benign Het
Clec2g T C 6: 128,925,719 (GRCm39) S43P probably benign Het
Col8a2 A G 4: 126,204,992 (GRCm39) probably benign Het
Cpz T C 5: 35,659,705 (GRCm39) K647E probably benign Het
Csmd2 T C 4: 128,308,185 (GRCm39) probably null Het
Cyp2c23 T C 19: 43,993,885 (GRCm39) R494G probably damaging Het
Cyp2c68 A G 19: 39,677,589 (GRCm39) I467T probably damaging Het
Dcaf11 A T 14: 55,803,202 (GRCm39) T299S possibly damaging Het
Dennd1b A G 1: 139,098,019 (GRCm39) S762G possibly damaging Het
Epb42 C T 2: 120,856,402 (GRCm39) A381T possibly damaging Het
Fhad1 A G 4: 141,648,099 (GRCm39) Y256H probably benign Het
Gfra1 C T 19: 58,227,739 (GRCm39) A395T possibly damaging Het
Gm10323 C A 13: 67,002,574 (GRCm39) C55F probably benign Het
Greb1 T C 12: 16,749,551 (GRCm39) S1092G probably damaging Het
Grid1 A T 14: 35,284,516 (GRCm39) D753V probably damaging Het
Grin2b A G 6: 135,710,637 (GRCm39) F970L probably damaging Het
Kcnma1 A T 14: 23,423,275 (GRCm39) N682K probably benign Het
Lat2 T A 5: 134,634,798 (GRCm39) D114V probably damaging Het
Lcat C T 8: 106,666,511 (GRCm39) C337Y probably damaging Het
Mapk10 C T 5: 103,186,548 (GRCm39) D25N probably benign Het
Mroh7 C T 4: 106,548,287 (GRCm39) G1064R probably damaging Het
Muc21 T C 17: 35,930,599 (GRCm39) probably benign Het
Or10h5 T A 17: 33,435,252 (GRCm39) H22L probably benign Het
Or51ah3 A T 7: 103,210,064 (GRCm39) I127F probably damaging Het
Or5p5 T A 7: 107,414,126 (GRCm39) C112S probably benign Het
Or8k39 A T 2: 86,563,773 (GRCm39) F61Y possibly damaging Het
Polr1has A T 17: 37,276,052 (GRCm39) R211S possibly damaging Het
Psg27 T A 7: 18,295,818 (GRCm39) D209V probably benign Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Pzp A G 6: 128,502,227 (GRCm39) S41P possibly damaging Het
Rab23 A T 1: 33,777,376 (GRCm39) K163N possibly damaging Het
Rilpl2 T C 5: 124,615,898 (GRCm39) D84G probably damaging Het
Sorl1 A G 9: 41,881,077 (GRCm39) I2148T probably benign Het
Tead1 A G 7: 112,358,694 (GRCm39) E2G probably damaging Het
Tigd4 A G 3: 84,501,259 (GRCm39) N59D possibly damaging Het
Tmprss15 T A 16: 78,832,121 (GRCm39) D345V possibly damaging Het
Togaram2 T C 17: 72,016,592 (GRCm39) S649P probably benign Het
Ucp2 T C 7: 100,146,459 (GRCm39) V95A probably benign Het
Usp17lb T C 7: 104,489,955 (GRCm39) D323G probably damaging Het
Zfp677 A T 17: 21,617,518 (GRCm39) K192* probably null Het
Zmym2 T A 14: 57,165,705 (GRCm39) I676K 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
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
Predicted Primers PCR Primer
(F):5'- TCTGCCTTCCAATGGTCTGAG -3'
(R):5'- ATAGGGCTCTAGAAGGGGTC -3'

Sequencing Primer
(F):5'- CCTTCCAATGGTCTGAGAGAGAAG -3'
(R):5'- GCTCTAGAAGGGGTCAGTGC -3'
Posted On 2014-12-04