Incidental Mutation 'R5101:Ctsw'
ID 392386
Institutional Source Beutler Lab
Gene Symbol Ctsw
Ensembl Gene ENSMUSG00000024910
Gene Name cathepsin W
Synonyms lymphopain
MMRRC Submission 042852-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5101 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 5515071-5518535 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 5515703 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 287 (V287A)
Ref Sequence ENSEMBL: ENSMUSP00000025844 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025844] [ENSMUST00000025847] [ENSMUST00000225141]
AlphaFold P56203
Predicted Effect probably benign
Transcript: ENSMUST00000025844
AA Change: V287A

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000025844
Gene: ENSMUSG00000024910
AA Change: V287A

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: ENSMUST00000225796
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225917
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226017
Meta Mutation Damage Score 0.3212 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.0%
Validation Efficiency 100% (57/57)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam17 T C 12: 21,423,406 (GRCm39) T10A possibly damaging Het
Adgrg3 T C 8: 95,763,563 (GRCm39) F288S probably benign Het
Ago2 A G 15: 72,991,339 (GRCm39) V533A probably damaging Het
Akap9 T G 5: 4,051,748 (GRCm39) V1505G probably damaging Het
Apob T C 12: 8,061,934 (GRCm39) I3439T probably benign Het
C1qtnf7 T A 5: 43,773,314 (GRCm39) Y204* probably null Het
Cdc42bpb T C 12: 111,265,549 (GRCm39) E1461G probably damaging Het
Cdh3 C T 8: 107,268,024 (GRCm39) A353V possibly damaging Het
Clec4d A G 6: 123,244,071 (GRCm39) Y60C probably damaging Het
Cmya5 T A 13: 93,228,111 (GRCm39) T2326S possibly damaging Het
Cnot1 G A 8: 96,486,815 (GRCm39) L631F possibly damaging Het
Cntnap5a C T 1: 116,370,026 (GRCm39) T881I probably benign Het
Col6a1 T A 10: 76,545,740 (GRCm39) T911S unknown Het
Cyp2c23 T C 19: 44,017,622 (GRCm39) E2G unknown Het
Cytip A T 2: 58,037,911 (GRCm39) I151N probably damaging Het
Dnah10 A G 5: 124,909,577 (GRCm39) T4399A possibly damaging Het
Dock3 A T 9: 106,846,980 (GRCm39) I883N probably damaging Het
Entpd3 A G 9: 120,395,608 (GRCm39) *530W probably null Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Gp1ba G A 11: 70,532,225 (GRCm39) V664M probably benign Het
Gpd2 T A 2: 57,245,913 (GRCm39) I481N probably damaging Het
Gvin-ps5 T C 7: 105,929,096 (GRCm39) noncoding transcript Het
Ildr2 A G 1: 166,135,331 (GRCm39) D342G probably damaging Het
Krt87 A G 15: 101,385,391 (GRCm39) I327T probably benign Het
Lats1 T A 10: 7,588,348 (GRCm39) C988* probably null Het
Lpin2 G A 17: 71,550,965 (GRCm39) W708* probably null Het
Mast4 T C 13: 102,872,864 (GRCm39) D2168G probably benign Het
Myo6 G T 9: 80,177,321 (GRCm39) E606* probably null Het
Nek7 A G 1: 138,443,431 (GRCm39) V174A probably benign Het
Nid1 T A 13: 13,658,339 (GRCm39) C695S probably damaging Het
Nme8 A G 13: 19,875,017 (GRCm39) probably null Het
Nr2c2 T C 6: 92,131,497 (GRCm39) probably null Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or2ag18 A T 7: 106,405,420 (GRCm39) I83K possibly damaging Het
Or4x11 A G 2: 89,867,391 (GRCm39) M43V probably benign Het
Or51ab3 G A 7: 103,201,150 (GRCm39) E53K probably damaging Het
Or9g19 A G 2: 85,600,268 (GRCm39) N41S probably damaging Het
Pms2 A G 5: 143,865,006 (GRCm39) D696G probably damaging Het
Psapl1 T A 5: 36,361,494 (GRCm39) C29S probably damaging Het
Scn3a A T 2: 65,291,850 (GRCm39) V1632D probably damaging Het
Slc22a1 C T 17: 12,886,129 (GRCm39) G168D probably damaging Het
Smad4 A G 18: 73,808,931 (GRCm39) V112A probably benign Het
Smc4 T C 3: 68,935,845 (GRCm39) V796A probably benign Het
Smco4 A G 9: 15,455,968 (GRCm39) E18G unknown Het
Spata31e2 T C 1: 26,722,417 (GRCm39) E921G possibly damaging Het
Sugp2 A G 8: 70,713,139 (GRCm39) E1035G probably damaging Het
Syde2 T C 3: 145,721,393 (GRCm39) S820P probably damaging Het
Syn2 T C 6: 115,240,860 (GRCm39) L410P probably damaging Het
Tmem131l T C 3: 83,844,811 (GRCm39) N466S probably damaging Het
Uba1y T G Y: 821,447 (GRCm39) probably null Het
Unc79 T C 12: 103,078,769 (GRCm39) S1645P probably damaging Het
Vmn2r17 A T 5: 109,576,217 (GRCm39) S363C probably damaging Het
Vmn2r78 T C 7: 86,571,563 (GRCm39) Y458H probably damaging 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
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
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'- AGATGACGTTATAGCCTGCCC -3'
(R):5'- GCTCCAGTCATTACCAATTTCCAG -3'

Sequencing Primer
(F):5'- ACGTTATAGCCTGCCCCGTTG -3'
(R):5'- GCAATTGCCCACTACCTGG -3'
Posted On 2016-06-15