Incidental Mutation 'R8007:Ctss'
ID 616671
Institutional Source Beutler Lab
Gene Symbol Ctss
Ensembl Gene ENSMUSG00000038642
Gene Name cathepsin S
Synonyms Cat S
MMRRC Submission 046047-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # R8007 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 95434097-95463714 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 95457465 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 309 (S309C)
Ref Sequence ENSEMBL: ENSMUSP00000015667 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015667] [ENSMUST00000116304]
AlphaFold O70370
Predicted Effect probably null
Transcript: ENSMUST00000015667
AA Change: S309C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000015667
Gene: ENSMUSG00000038642
AA Change: S309C

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: S308C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112006
Gene: ENSMUSG00000038642
AA Change: S308C

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: 99.4%
Validation Efficiency 100% (62/62)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T A 6: 121,647,845 (GRCm39) probably benign Het
A430033K04Rik T C 5: 138,644,901 (GRCm39) I262T probably benign Het
Acacb A G 5: 114,356,935 (GRCm39) R1289G probably damaging Het
Adgre4 A T 17: 56,121,233 (GRCm39) H433L probably damaging Het
Adgrv1 A G 13: 81,431,585 (GRCm39) F5948L probably benign Het
Adtrp A T 13: 41,969,707 (GRCm39) D97E probably damaging Het
Anapc5 T C 5: 122,929,963 (GRCm39) T543A probably benign Het
Ank2 G C 3: 126,730,096 (GRCm39) probably benign Het
Cacna2d4 C T 6: 119,289,405 (GRCm39) A813V probably benign Het
Cc2d2a T A 5: 43,863,442 (GRCm39) Y684N possibly damaging Het
Cenpf G A 1: 189,379,144 (GRCm39) P35L Het
Chtf18 A G 17: 25,944,508 (GRCm39) F281L probably damaging Het
Clstn1 T C 4: 149,716,305 (GRCm39) V257A probably damaging Het
Cnmd A T 14: 79,875,406 (GRCm39) V338E probably damaging Het
Col6a3 A C 1: 90,705,179 (GRCm39) F2848V unknown Het
Corin T C 5: 72,473,446 (GRCm39) S888G probably damaging Het
Dmxl2 G A 9: 54,290,975 (GRCm39) Q2492* probably null Het
Exoc7 C T 11: 116,197,465 (GRCm39) R12Q possibly damaging Het
F12 A G 13: 55,566,265 (GRCm39) I509T probably damaging Het
F13b A G 1: 139,434,680 (GRCm39) K149E probably benign Het
Fasn A G 11: 120,700,353 (GRCm39) I2159T probably benign Het
Fgfr2 A T 7: 129,765,719 (GRCm39) Y831* probably null Het
Foxp1 A T 6: 98,918,595 (GRCm39) S514R unknown Het
Gm11569 A G 11: 99,689,688 (GRCm39) S4P unknown Het
Gria4 T C 9: 4,503,740 (GRCm39) probably benign Het
Hnrnpul2 T A 19: 8,798,179 (GRCm39) probably null Het
Ibtk A T 9: 85,572,770 (GRCm39) D1257E probably benign Het
Ip6k2 T C 9: 108,682,955 (GRCm39) V355A probably benign Het
Kcnd2 G A 6: 21,217,073 (GRCm39) R259H probably damaging Het
Kcnj2 A C 11: 110,963,884 (GRCm39) E425D probably benign Het
Ldlrad1 G A 4: 107,066,688 (GRCm39) A8T probably benign Het
Lgi2 C A 5: 52,723,375 (GRCm39) A25S probably benign Het
Lrp2 T C 2: 69,336,849 (GRCm39) T1308A probably benign Het
Ly6g2 A G 15: 75,088,552 (GRCm39) T7A probably benign Het
Matn2 A T 15: 34,426,315 (GRCm39) N609I probably benign Het
Mocs2 T A 13: 114,957,409 (GRCm39) S9T possibly damaging Het
Nebl T A 2: 17,375,300 (GRCm39) I102F Het
Nudt19 A G 7: 35,255,045 (GRCm39) V62A probably benign Het
Or10u4 T A 10: 129,801,744 (GRCm39) D269V possibly damaging Het
Or12k8 T A 2: 36,974,855 (GRCm39) R302W probably damaging Het
Or4a68 C T 2: 89,270,684 (GRCm39) Het
Or4k42 A T 2: 111,320,068 (GRCm39) V145E probably damaging Het
Pacrg A G 17: 11,058,919 (GRCm39) probably benign Het
Pappa2 A G 1: 158,609,874 (GRCm39) I1529T probably damaging Het
Pcdhga7 A T 18: 37,849,946 (GRCm39) H651L probably benign Het
Plch2 A G 4: 155,087,288 (GRCm39) L321P probably damaging Het
Ppargc1b A T 18: 61,443,565 (GRCm39) S549T possibly damaging Het
Rtel1 T A 2: 180,976,767 (GRCm39) N254K probably damaging Het
Rtl1 T C 12: 109,558,060 (GRCm39) N1260D possibly damaging Het
Samd7 T A 3: 30,812,531 (GRCm39) W324R probably damaging Het
Serpinb9e A G 13: 33,435,605 (GRCm39) I13V probably benign Het
Skint10 A G 4: 112,568,865 (GRCm39) L284S possibly damaging Het
Slc25a38 T A 9: 119,951,208 (GRCm39) I247K possibly damaging Het
Smarce1 G C 11: 99,115,876 (GRCm39) N48K possibly damaging Het
Stmn4 T G 14: 66,593,032 (GRCm39) probably benign Het
Stt3a G C 9: 36,653,065 (GRCm39) T539R probably damaging Het
Tab1 G A 15: 80,042,969 (GRCm39) V388I possibly damaging Het
Tcf12 G C 9: 71,841,905 (GRCm39) probably benign Het
Tcof1 G C 18: 60,962,123 (GRCm39) A702G possibly damaging Het
Trp53inp1 T C 4: 11,164,525 (GRCm39) F23S probably damaging Het
Vmn2r14 A T 5: 109,368,324 (GRCm39) L223M probably benign Het
Yae1d1 G A 13: 18,164,329 (GRCm39) S96L probably damaging Het
Zfp142 T C 1: 74,610,655 (GRCm39) I1047V probably benign 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
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'- CCTTGTCATATCTCCAAGCATGT -3'
(R):5'- GCCCTAACACTGTCAAATGAAAC -3'

Sequencing Primer
(F):5'- GTTTTATTATCCTGAAACACTTGCC -3'
(R):5'- ACATCCTGATCTGCAAGTGG -3'
Posted On 2020-01-23