Incidental Mutation 'IGL01140:Ctss'
ID 50796
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: 0.116) question?
Stock # IGL01140
Quality Score
Status
Chromosome 3
Chromosomal Location 95434097-95463714 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 95446036 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 52 (E52G)
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 damaging
Transcript: ENSMUST00000015667
AA Change: E53G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000015667
Gene: ENSMUSG00000038642
AA Change: E53G

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 damaging
Transcript: ENSMUST00000116304
AA Change: E52G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112006
Gene: ENSMUSG00000038642
AA Change: E52G

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afm A G 5: 90,672,726 (GRCm39) E187G probably damaging Het
Asap2 T C 12: 21,256,317 (GRCm39) V205A probably damaging Het
Atg16l1 A G 1: 87,702,575 (GRCm39) I279V probably benign Het
Atp2b2 C T 6: 113,766,932 (GRCm39) V436I possibly damaging Het
Cald1 T A 6: 34,739,196 (GRCm39) S640T possibly damaging Het
Cdc23 A G 18: 34,769,385 (GRCm39) Y460H probably benign Het
Cenpk T A 13: 104,372,742 (GRCm39) probably benign Het
Cuzd1 A T 7: 130,913,523 (GRCm39) C365S probably damaging Het
Cyp2c55 T C 19: 39,007,093 (GRCm39) L163P probably benign Het
Cyp4f37 T C 17: 32,848,027 (GRCm39) S182P probably benign Het
Flt4 G T 11: 49,525,770 (GRCm39) E740* probably null Het
Galntl6 T A 8: 58,411,356 (GRCm39) R291S probably damaging Het
Hydin G A 8: 111,124,694 (GRCm39) V568I probably benign Het
Ift70a1 A G 2: 75,810,259 (GRCm39) V608A probably benign Het
Kcnab3 A G 11: 69,220,705 (GRCm39) K145R probably benign Het
Lama1 T C 17: 68,109,928 (GRCm39) V2183A probably benign Het
Lrmda C T 14: 22,646,585 (GRCm39) A75V possibly damaging Het
Mbtd1 A G 11: 93,815,258 (GRCm39) E282G probably damaging Het
Muc19 A T 15: 91,783,593 (GRCm39) noncoding transcript Het
Mug1 A G 6: 121,859,693 (GRCm39) T1231A probably benign Het
Nkpd1 A G 7: 19,257,387 (GRCm39) T389A possibly damaging Het
Nudt19 A G 7: 35,247,336 (GRCm39) *358Q probably null Het
Nup160 G T 2: 90,530,909 (GRCm39) M522I possibly damaging Het
Obsl1 T A 1: 75,466,400 (GRCm39) probably benign Het
Or4m1 T A 14: 50,557,732 (GRCm39) I187F probably damaging Het
Or5ak24 T C 2: 85,260,484 (GRCm39) T230A probably benign Het
Or5b119 G A 19: 13,457,151 (GRCm39) T137I possibly damaging Het
Osbpl10 C T 9: 115,005,070 (GRCm39) P341S probably benign Het
Papola C A 12: 105,775,856 (GRCm39) C7* probably null Het
Pld1 C A 3: 28,132,386 (GRCm39) L525I probably benign Het
Prom2 T C 2: 127,373,125 (GRCm39) probably benign Het
Psmb5 G A 14: 54,855,264 (GRCm39) T62I possibly damaging Het
Sag A G 1: 87,751,086 (GRCm39) E184G probably benign Het
Slc16a10 T C 10: 39,952,921 (GRCm39) Y191C probably damaging Het
Slc22a22 T C 15: 57,126,734 (GRCm39) T93A probably damaging Het
Ssx2ip A G 3: 146,133,598 (GRCm39) Y231C probably benign Het
Trib1 A G 15: 59,523,476 (GRCm39) Y170C probably damaging Het
Trmt10a G A 3: 137,862,459 (GRCm39) probably benign Het
Troap G T 15: 98,980,027 (GRCm39) Q402H probably damaging Het
Vmn2r70 G A 7: 85,214,379 (GRCm39) Q258* probably null Het
Zfp128 A G 7: 12,624,949 (GRCm39) Y439C probably benign Het
Zmym1 A G 4: 126,943,435 (GRCm39) F318L probably damaging Het
Zswim2 A G 2: 83,745,672 (GRCm39) S589P probably benign Het
Other mutations in Ctss
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2013-06-21