Incidental Mutation 'R6436:Ctsw'
ID 518792
Institutional Source Beutler Lab
Gene Symbol Ctsw
Ensembl Gene ENSMUSG00000024910
Gene Name cathepsin W
Synonyms lymphopain
MMRRC Submission 044574-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6436 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 5515071-5518535 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 5516322 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 184 (R184S)
Ref Sequence ENSEMBL: ENSMUSP00000025844 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025844] [ENSMUST00000025847] [ENSMUST00000225141]
AlphaFold P56203
Predicted Effect possibly damaging
Transcript: ENSMUST00000025844
AA Change: R184S

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000025844
Gene: ENSMUSG00000024910
AA Change: R184S

signal peptide 1 21 N/A INTRINSIC
Inhibitor_I29 40 97 2.21e-12 SMART
Pept_C1 126 357 1.58e-79 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000025847
SMART Domains Protein: ENSMUSP00000025847
Gene: ENSMUSG00000024911

Pfam:FIBP 3 363 7.6e-171 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224005
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224422
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224944
Predicted Effect probably benign
Transcript: ENSMUST00000225141
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225222
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225917
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226017
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225796
Meta Mutation Damage Score 0.0789 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.7%
  • 10x: 98.1%
  • 20x: 93.5%
Validation Efficiency 100% (33/33)
MGI Phenotype FUNCTION: This gene encodes a member of the peptidase C1 (papain) family of cysteine proteases. The encoded preproprotein is proteolytically processed to generate a mature protein product. Expression of the encoded protein is upregulated following lymphocyte activation. Data from a human cell line suggests that the encoded enzyme may be important for viral entry into host cells. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygous null mutants are fertile and healthy with normal cytotoxic lymphocytes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arc C A 15: 74,544,098 (GRCm39) V42L possibly damaging Het
Clip1 C T 5: 123,779,848 (GRCm39) E433K probably damaging Het
Cmya5 T C 13: 93,225,723 (GRCm39) T3122A probably damaging Het
Ctf2 G T 7: 127,318,603 (GRCm39) A92E probably damaging Het
D130043K22Rik A G 13: 25,061,918 (GRCm39) E629G probably damaging Het
Dmbt1 T C 7: 130,718,370 (GRCm39) V1523A probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Fanci T C 7: 79,090,446 (GRCm39) I982T probably benign Het
Fnbp1 T C 2: 30,986,139 (GRCm39) D3G probably damaging Het
Gm10770 G A 2: 150,020,830 (GRCm39) T229I probably benign Het
Gm35315 G A 5: 110,226,578 (GRCm39) T287I probably benign Het
Itgb3 T A 11: 104,524,318 (GRCm39) D151E probably damaging Het
Lcn8 A T 2: 25,544,990 (GRCm39) probably null Het
Ninl A G 2: 150,808,098 (GRCm39) L310P probably damaging Het
Nop2 A G 6: 125,114,274 (GRCm39) D215G probably benign Het
Or4d10c T C 19: 12,065,299 (GRCm39) T286A probably benign Het
Or6c3 A G 10: 129,308,773 (GRCm39) T71A probably damaging Het
Parg T C 14: 31,993,634 (GRCm39) W289R probably damaging Het
Pdcd4 A G 19: 53,915,362 (GRCm39) probably null Het
Plk2 G T 13: 110,532,570 (GRCm39) E95* probably null Het
Pold1 G A 7: 44,188,202 (GRCm39) R559C probably damaging Het
Ptprc T C 1: 138,011,377 (GRCm39) D560G possibly damaging Het
Rasal3 T C 17: 32,616,478 (GRCm39) Y290C probably damaging Het
Rcsd1 T A 1: 165,485,184 (GRCm39) S90C probably damaging Het
Rttn T C 18: 89,128,853 (GRCm39) L1935P probably damaging Het
Smc1b C T 15: 84,976,232 (GRCm39) R825Q probably benign Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Homo
Tmc3 T C 7: 83,247,695 (GRCm39) Y230H probably damaging Het
Tnfrsf25 A T 4: 152,204,084 (GRCm39) probably null Het
Ubl7 T C 9: 57,827,793 (GRCm39) L160P probably damaging Het
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Zfp646 T A 7: 127,479,113 (GRCm39) V430E probably benign Het
Other mutations in Ctsw
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0845:Ctsw UTSW 19 5,515,489 (GRCm39) unclassified probably benign
R1566:Ctsw UTSW 19 5,515,445 (GRCm39) missense probably damaging 1.00
R2306:Ctsw UTSW 19 5,517,010 (GRCm39) splice site probably null
R5023:Ctsw UTSW 19 5,516,077 (GRCm39) missense probably damaging 1.00
R5076:Ctsw UTSW 19 5,518,486 (GRCm39) missense probably benign
R5101:Ctsw UTSW 19 5,515,703 (GRCm39) missense probably benign 0.20
R5112:Ctsw UTSW 19 5,516,285 (GRCm39) missense probably damaging 0.98
R5188:Ctsw UTSW 19 5,517,120 (GRCm39) missense probably damaging 1.00
R6109:Ctsw UTSW 19 5,517,147 (GRCm39) missense probably benign
R6984:Ctsw UTSW 19 5,516,646 (GRCm39) missense probably damaging 1.00
R6993:Ctsw UTSW 19 5,515,865 (GRCm39) missense probably damaging 1.00
R7720:Ctsw UTSW 19 5,517,072 (GRCm39) missense probably damaging 0.99
R9077:Ctsw UTSW 19 5,516,431 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2018-05-24