Incidental Mutation 'R6886:Ctsl'
ID 536973
Institutional Source Beutler Lab
Gene Symbol Ctsl
Ensembl Gene ENSMUSG00000021477
Gene Name cathepsin L
Synonyms MEP, 1190035F06Rik, Cat L, major excreted protein
MMRRC Submission 044980-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6886 (G1)
Quality Score 201.009
Status Not validated
Chromosome 13
Chromosomal Location 64509704-64518586 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 64512961 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000021933] [ENSMUST00000220737] [ENSMUST00000222462] [ENSMUST00000222517] [ENSMUST00000223494]
AlphaFold P06797
Predicted Effect probably benign
Transcript: ENSMUST00000021933
SMART Domains Protein: ENSMUSP00000021933
Gene: ENSMUSG00000021477

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Inhibitor_I29 29 88 1.98e-23 SMART
Pept_C1 114 332 1.67e-128 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000220737
Predicted Effect probably benign
Transcript: ENSMUST00000222462
Predicted Effect probably benign
Transcript: ENSMUST00000222517
Predicted Effect probably null
Transcript: ENSMUST00000222971
Predicted Effect probably benign
Transcript: ENSMUST00000223494
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.7%
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 multiple protein products. These products include the activation peptide and the cathepsin L1 heavy and light chains. The mature enzyme appears to be important in embryonic development through its processing of histone H3 and may play a role in disease progression in a model of kidney disease. Homozygous knockout mice for this gene exhibit hair loss, skin thickening, bone and heart defects, and enhanced susceptibility to bacterial infection. A pseudogene of this gene has been identified in the genome. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygotes for mutant alleles may show partial or complete hair-loss, skin defects, impaired T cell maturation, dilated cardiomyopathy, and high postnatal mortality. Mutant males for some alleles show both normal and atrophic seminiferous tubules and reduced sperm production. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp7b A T 8: 22,518,706 (GRCm39) M44K probably benign Het
Bad T C 19: 6,928,702 (GRCm39) probably benign Het
Bbs12 A G 3: 37,373,390 (GRCm39) D61G probably damaging Het
Bcr C T 10: 74,989,769 (GRCm39) R722C probably damaging Het
Carf C A 1: 60,175,413 (GRCm39) probably null Het
Ccdc181 A G 1: 164,107,665 (GRCm39) E116G probably damaging Het
Celsr1 A G 15: 85,915,855 (GRCm39) V706A probably benign Het
Col9a1 T A 1: 24,224,426 (GRCm39) S203T unknown Het
Exosc7 A T 9: 122,965,023 (GRCm39) E277D probably benign Het
Fam20b A T 1: 156,518,081 (GRCm39) W238R probably damaging Het
Fanci A T 7: 79,070,090 (GRCm39) H430L possibly damaging Het
Fstl4 A G 11: 53,077,277 (GRCm39) D678G probably damaging Het
Gm10801 TC TCGGC 2: 98,494,151 (GRCm39) probably benign Het
Gm11569 T A 11: 99,689,247 (GRCm39) probably benign Het
Igfn1 G A 1: 135,901,198 (GRCm39) R306W probably damaging Het
Il6 C T 5: 30,223,201 (GRCm39) probably benign Het
Khdc1c T C 1: 21,439,749 (GRCm39) L100P possibly damaging Het
Kif18a G A 2: 109,127,008 (GRCm39) R314H probably damaging Het
Kif26b A C 1: 178,701,703 (GRCm39) K694T probably damaging Het
Kndc1 A G 7: 139,493,485 (GRCm39) T484A probably benign Het
Lonrf1 T C 8: 36,696,191 (GRCm39) probably null Het
Man1a2 C T 3: 100,563,387 (GRCm39) G169D probably benign Het
Med6 G T 12: 81,638,159 (GRCm39) D17E probably damaging Het
Neb T C 2: 52,110,236 (GRCm39) K204R probably damaging Het
Nhlrc1 T A 13: 47,167,252 (GRCm39) N335I possibly damaging Het
Nlrp12 T C 7: 3,289,313 (GRCm39) M400V probably benign Het
Or7e173 G T 9: 19,938,428 (GRCm39) H269N probably benign Het
Or8k22 A T 2: 86,163,408 (GRCm39) C97* probably null Het
Pkhd1 C T 1: 20,417,504 (GRCm39) S2549N probably benign Het
Pramel26 A G 4: 143,539,332 (GRCm39) F54L probably benign Het
Rab4b A C 7: 26,872,381 (GRCm39) L145R probably damaging Het
Rad50 T C 11: 53,577,011 (GRCm39) I526V probably benign Het
Rel T C 11: 23,694,304 (GRCm39) H309R probably benign Het
Rnf2 G T 1: 151,349,017 (GRCm39) N34K possibly damaging Het
Serpina3m G T 12: 104,355,386 (GRCm39) V18F possibly damaging Het
Serpinb9c T C 13: 33,334,310 (GRCm39) K244R probably benign Het
Setbp1 T A 18: 78,900,715 (GRCm39) Y984F probably damaging Het
Slc12a5 T A 2: 164,824,825 (GRCm39) M410K probably benign Het
Smarca4 C T 9: 21,570,127 (GRCm39) A710V probably damaging Het
Snx19 C A 9: 30,340,231 (GRCm39) D456E probably damaging Het
Ssrp1 T A 2: 84,870,280 (GRCm39) D101E probably benign Het
Tax1bp1 A T 6: 52,710,208 (GRCm39) E162D probably benign Het
Tenm4 T A 7: 96,446,599 (GRCm39) M823K possibly damaging Het
Tesk1 A G 4: 43,443,592 (GRCm39) D53G possibly damaging Het
Tnrc6a T A 7: 122,786,668 (GRCm39) S1577T probably benign Het
Tpr A G 1: 150,299,716 (GRCm39) I1270V probably benign Het
Trp53bp2 T C 1: 182,256,608 (GRCm39) probably null Het
Ube4a A T 9: 44,860,141 (GRCm39) I307N probably damaging Het
Unc13b A G 4: 43,170,156 (GRCm39) probably benign Het
Vmn2r3 T C 3: 64,166,927 (GRCm39) K735E probably damaging Het
Vmn2r54 A G 7: 12,366,080 (GRCm39) F285L probably benign Het
Vmn2r81 T G 10: 79,103,988 (GRCm39) S204A possibly damaging Het
Washc1 A G 17: 66,426,061 (GRCm39) D453G probably damaging Het
Zfp329 T A 7: 12,544,025 (GRCm39) I500L probably benign Het
Zfp516 A G 18: 82,975,125 (GRCm39) D441G probably benign Het
Zfp644 T C 5: 106,785,777 (GRCm39) T257A possibly damaging Het
Other mutations in Ctsl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00324:Ctsl APN 13 64,515,982 (GRCm39) missense probably damaging 1.00
IGL02895:Ctsl APN 13 64,514,326 (GRCm39) missense probably damaging 0.97
mauvais UTSW 13 64,511,916 (GRCm39) splice site probably null
patch UTSW 13 64,514,437 (GRCm39) nonsense probably null
G1patch:Ctsl UTSW 13 64,514,437 (GRCm39) nonsense probably null
R0518:Ctsl UTSW 13 64,513,032 (GRCm39) missense possibly damaging 0.75
R0521:Ctsl UTSW 13 64,513,032 (GRCm39) missense possibly damaging 0.75
R1546:Ctsl UTSW 13 64,515,693 (GRCm39) missense probably damaging 1.00
R2096:Ctsl UTSW 13 64,516,840 (GRCm39) critical splice donor site probably null
R5690:Ctsl UTSW 13 64,513,022 (GRCm39) missense probably damaging 1.00
R5804:Ctsl UTSW 13 64,514,302 (GRCm39) missense probably damaging 1.00
R6182:Ctsl UTSW 13 64,515,786 (GRCm39) missense probably damaging 0.99
R6670:Ctsl UTSW 13 64,511,916 (GRCm39) splice site probably null
R6725:Ctsl UTSW 13 64,514,437 (GRCm39) nonsense probably null
R7502:Ctsl UTSW 13 64,514,882 (GRCm39) missense probably damaging 1.00
R8828:Ctsl UTSW 13 64,514,314 (GRCm39) missense probably damaging 1.00
R8947:Ctsl UTSW 13 64,514,840 (GRCm39) missense probably damaging 1.00
R9354:Ctsl UTSW 13 64,516,850 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACACAAGCTGTACTTTCTGCTG -3'
(R):5'- TATGAACCCAACTGTAGCAGC -3'

Sequencing Primer
(F):5'- CTGCTGGTTATTCCTTGTTGAAAAC -3'
(R):5'- TGTAGCAGCAAGAACCTCG -3'
Posted On 2018-10-18