Incidental Mutation 'R5188:Ctsw'
ID 398028
Institutional Source Beutler Lab
Gene Symbol Ctsw
Ensembl Gene ENSMUSG00000024910
Gene Name cathepsin W
Synonyms lymphopain
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5188 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 5515071-5518535 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 5517120 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 71 (A71T)
Ref Sequence ENSEMBL: ENSMUSP00000025844 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025844] [ENSMUST00000025847] [ENSMUST00000225141]
AlphaFold P56203
Predicted Effect probably damaging
Transcript: ENSMUST00000025844
AA Change: A71T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025844
Gene: ENSMUSG00000024910
AA Change: A71T

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: ENSMUST00000226017
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225796
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225917
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Abca12 T A 1: 71,330,651 (GRCm39) I1335F probably benign Het
Amigo3 C A 9: 107,931,882 (GRCm39) A435E probably damaging Het
Atr T A 9: 95,803,778 (GRCm39) N1871K probably benign Het
Decr1 C T 4: 15,924,270 (GRCm39) V217M probably damaging Het
Golgb1 A G 16: 36,738,827 (GRCm39) T2389A probably benign Het
Gpr151 A G 18: 42,711,820 (GRCm39) M286T probably benign Het
Katnbl1 T A 2: 112,240,499 (GRCm39) I262N probably damaging Het
Lrp1 A G 10: 127,443,821 (GRCm39) C149R probably damaging Het
Mpc1 A T 17: 8,515,215 (GRCm39) probably benign Het
Ndufv1 A T 19: 4,059,988 (GRCm39) N37K probably damaging Het
Or1n1b T A 2: 36,780,405 (GRCm39) I152L probably benign Het
Or5af2 C A 11: 58,708,146 (GRCm39) T104K probably damaging Het
Or8g50 T C 9: 39,648,531 (GRCm39) V140A probably benign Het
Or8k1 T G 2: 86,047,521 (GRCm39) S178R probably benign Het
Pnpla7 C A 2: 24,887,312 (GRCm39) P52Q probably benign Het
Prh1 A G 6: 132,548,670 (GRCm39) Q59R unknown Het
Ren1 A G 1: 133,278,351 (GRCm39) probably benign Het
Rnf148 T C 6: 23,654,139 (GRCm39) T286A probably damaging Het
Sdk1 T C 5: 141,942,015 (GRCm39) probably null Het
Srp72 T A 5: 77,122,598 (GRCm39) S10T possibly damaging Het
Stk11 G T 10: 79,962,113 (GRCm39) G215V probably damaging Het
Stk4 T C 2: 163,930,828 (GRCm39) M143T possibly damaging Het
Supt20 T A 3: 54,617,849 (GRCm39) S318T possibly damaging Het
Tchh G C 3: 93,353,986 (GRCm39) R1142P unknown Het
Vipas39 G T 12: 87,301,021 (GRCm39) R161S 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
R6109:Ctsw UTSW 19 5,517,147 (GRCm39) missense probably benign
R6436:Ctsw UTSW 19 5,516,322 (GRCm39) missense possibly damaging 0.91
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
(F):5'- GATACAGTCTCTGGCCTGAGAG -3'
(R):5'- ATGTGGGGCTGGATAATCAC -3'

Sequencing Primer
(F):5'- CAGGCCACAGAAGTCATGTCTTG -3'
(R):5'- CTGGATAATCACTTTCTTGCAGGAG -3'
Posted On 2016-07-06