Incidental Mutation 'R2306:Ctsw'
ID 244606
Institutional Source Beutler Lab
Gene Symbol Ctsw
Ensembl Gene ENSMUSG00000024910
Gene Name cathepsin W
Synonyms lymphopain
MMRRC Submission 040305-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2306 (G1)
Quality Score 158
Status Validated
Chromosome 19
Chromosomal Location 5515071-5518535 bp(-) (GRCm39)
Type of Mutation splice site (41 bp from exon)
DNA Base Change (assembly) T to C at 5517010 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000025844 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025844] [ENSMUST00000025847] [ENSMUST00000225141]
AlphaFold P56203
Predicted Effect probably null
Transcript: ENSMUST00000025844
SMART Domains Protein: ENSMUSP00000025844
Gene: ENSMUSG00000024910

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 0.9755 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 94.4%
Validation Efficiency 100% (34/34)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf2 G A 17: 43,024,010 (GRCm39) H154Y possibly damaging Het
Arhgef7 T A 8: 11,862,680 (GRCm39) Y501* probably null Het
Atmin T C 8: 117,684,389 (GRCm39) F683S probably benign Het
Bcat1 A G 6: 144,953,379 (GRCm39) V403A probably damaging Het
C4b T G 17: 34,947,492 (GRCm39) M1729L probably benign Het
Cdh23 A G 10: 60,159,224 (GRCm39) S2185P probably damaging Het
Crispld2 T G 8: 120,752,810 (GRCm39) V286G probably damaging Het
Dnai1 T C 4: 41,625,239 (GRCm39) V401A probably benign Het
Gm10801 G C 2: 98,494,352 (GRCm39) R143T possibly damaging Het
Ifitm2 T A 7: 140,535,702 (GRCm39) T43S probably damaging Het
Mark1 A T 1: 184,633,058 (GRCm39) probably benign Het
Mme A G 3: 63,207,673 (GRCm39) I40V probably benign Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Nfatc2 A C 2: 168,432,023 (GRCm39) F30C probably damaging Het
Npr2 T A 4: 43,633,609 (GRCm39) V251D probably damaging Het
Pax8 T A 2: 24,333,057 (GRCm39) Y96F probably damaging Het
Ppp1r13b T C 12: 111,811,327 (GRCm39) E187G probably damaging Het
Rbp3 A T 14: 33,684,520 (GRCm39) D1183V probably damaging Het
Reln T G 5: 22,101,784 (GRCm39) D3382A probably damaging Het
Rfc3 A G 5: 151,567,243 (GRCm39) L271P probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sdk1 C T 5: 141,948,455 (GRCm39) A600V probably benign Het
Sfr1 T C 19: 47,723,291 (GRCm39) I265T probably damaging Het
Syt13 G A 2: 92,771,312 (GRCm39) R133H probably benign Het
Tmem231 A T 8: 112,645,503 (GRCm39) V132D probably damaging Het
Tmem247 C A 17: 87,225,869 (GRCm39) A103E probably benign Het
Unc119b A T 5: 115,263,534 (GRCm39) Y223* probably null Het
Vmn1r196 T A 13: 22,477,473 (GRCm39) F37L probably benign Het
Vps13c T A 9: 67,895,275 (GRCm39) Y3627N probably damaging Het
Zfp292 C A 4: 34,809,468 (GRCm39) S1192I 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
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
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'- TGTCTAGCTGATAACTTTGAAGGC -3'
(R):5'- CACTTACCTGAGTGGGTGTG -3'

Sequencing Primer
(F):5'- TAACTTTGAAGGCATCATGTGGGAC -3'
(R):5'- AACCAGTGGCCACTTCCTG -3'
Posted On 2014-10-30