Incidental Mutation 'R9354:Ctsl'
ID 708285
Institutional Source Beutler Lab
Gene Symbol Ctsl
Ensembl Gene ENSMUSG00000021477
Gene Name cathepsin L
Synonyms MEP, 1190035F06Rik, Cat L, major excreted protein
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9354 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 64509704-64518586 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 64516850 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 40 (Y40N)
Ref Sequence ENSEMBL: ENSMUSP00000021933 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021933] [ENSMUST00000220737] [ENSMUST00000222462] [ENSMUST00000222517] [ENSMUST00000223494]
AlphaFold P06797
Predicted Effect probably damaging
Transcript: ENSMUST00000021933
AA Change: Y40N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021933
Gene: ENSMUSG00000021477
AA Change: Y40N

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 damaging
Transcript: ENSMUST00000220737
AA Change: Y40N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000222462
AA Change: Y40N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000222517
AA Change: Y40N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000222971
Predicted Effect probably damaging
Transcript: ENSMUST00000223494
AA Change: Y40N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik A G 2: 68,436,873 (GRCm39) Q181R unknown Het
Acsl1 T G 8: 46,966,753 (GRCm39) C242G probably benign Het
Agap2 A C 10: 126,923,104 (GRCm39) N646T unknown Het
Ankrd44 A T 1: 54,687,438 (GRCm39) *994R probably null Het
Apol7c C T 15: 77,410,112 (GRCm39) R278H possibly damaging Het
Birc6 A G 17: 74,921,401 (GRCm39) E2166G probably benign Het
Caskin2 G A 11: 115,693,468 (GRCm39) T528M probably damaging Het
Ccdc30 G T 4: 119,230,850 (GRCm39) P15Q possibly damaging Het
Cemip2 A G 19: 21,779,389 (GRCm39) S400G probably benign Het
Cenpf G A 1: 189,379,114 (GRCm39) T45I Het
Cep68 T C 11: 20,188,569 (GRCm39) E612G probably damaging Het
Chpf2 T C 5: 24,796,392 (GRCm39) L446P probably damaging Het
Dis3l T C 9: 64,221,922 (GRCm39) N496S probably benign Het
Espnl A T 1: 91,272,323 (GRCm39) D561V probably benign Het
Flnb T A 14: 7,818,411 (GRCm38) L87Q probably benign Het
Gbp9 T A 5: 105,232,825 (GRCm39) I276F possibly damaging Het
Gid4 G T 11: 60,308,618 (GRCm39) R46L probably benign Het
Gper1 G A 5: 139,412,029 (GRCm39) D125N possibly damaging Het
Gpr146 A G 5: 139,378,366 (GRCm39) N56S probably benign Het
Grhpr G T 4: 44,981,465 (GRCm39) R5L probably benign Het
Gstm6 A T 3: 107,850,018 (GRCm39) N59K probably damaging Het
Hdac7 A T 15: 97,694,769 (GRCm39) F802L probably damaging Het
Igfbpl1 A T 4: 45,816,348 (GRCm39) V159D probably damaging Het
Itga8 T C 2: 12,237,668 (GRCm39) S351G possibly damaging Het
Itgad C A 7: 127,785,146 (GRCm39) H354Q probably damaging Het
Jmjd1c T C 10: 67,059,875 (GRCm39) S641P probably damaging Het
Klhl33 T C 14: 51,130,385 (GRCm39) T110A probably benign Het
Lcorl T A 5: 45,890,968 (GRCm39) K545* probably null Het
Lilra6 A G 7: 3,914,628 (GRCm39) S546P probably damaging Het
Ly6c1 T A 15: 74,916,471 (GRCm39) I124F probably benign Het
Map4 A G 9: 109,897,847 (GRCm39) T858A probably benign Het
Marchf5 G T 19: 37,185,264 (GRCm39) probably benign Het
Muc2 A G 7: 141,307,157 (GRCm39) K769E Het
Myh6 T A 14: 55,200,992 (GRCm39) I157F probably damaging Het
Naip1 A G 13: 100,563,994 (GRCm39) V389A probably benign Het
Or52b3 G A 7: 102,204,397 (GRCm39) R302H possibly damaging Het
Pcdhgc4 A G 18: 37,949,640 (GRCm39) H352R probably benign Het
Pde8a C T 7: 80,982,619 (GRCm39) T746I probably damaging Het
Pick1 T C 15: 79,123,848 (GRCm39) V73A probably damaging Het
Ppwd1 C T 13: 104,342,080 (GRCm39) V625I probably benign Het
Prss59 A G 6: 40,905,473 (GRCm39) V61A probably damaging Het
Prune2 A G 19: 17,099,986 (GRCm39) E1830G probably benign Het
Ralgapb A G 2: 158,279,313 (GRCm39) N445S possibly damaging Het
Rapgef6 G T 11: 54,510,749 (GRCm39) R222L possibly damaging Het
Rorc A T 3: 94,280,170 (GRCm39) probably benign Het
Rps6ka1 A C 4: 133,594,432 (GRCm39) probably null Het
Sdk2 T C 11: 113,725,757 (GRCm39) Y1164C probably benign Het
Sema5a T A 15: 32,562,902 (GRCm39) Y304* probably null Het
Slc26a4 A T 12: 31,585,255 (GRCm39) V513D possibly damaging Het
Slf2 T A 19: 44,936,471 (GRCm39) D705E probably damaging Het
Spag17 A G 3: 99,934,905 (GRCm39) T704A probably benign Het
Tex15 C G 8: 34,063,344 (GRCm39) Q925E possibly damaging Het
Trim38 A T 13: 23,969,875 (GRCm39) T145S probably benign Het
Trpm3 G A 19: 22,425,696 (GRCm39) C17Y probably benign Het
Usp42 A G 5: 143,701,027 (GRCm39) Y999H probably benign Het
Vat1 A C 11: 101,351,441 (GRCm39) M300R probably benign Het
Vmn1r85 T A 7: 12,818,725 (GRCm39) I140F probably damaging Het
Vmn2r57 T C 7: 41,049,663 (GRCm39) I695M probably benign Het
Wnk1 C T 6: 119,942,660 (GRCm39) R789Q unknown Het
Zswim5 G A 4: 116,844,232 (GRCm39) G1090D probably 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
R6886:Ctsl UTSW 13 64,512,961 (GRCm39) splice site 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
Predicted Primers PCR Primer
(F):5'- TCTGGCTATAAACTTCTGAGGGTTAG -3'
(R):5'- AAAGCTTCCGTGGGATTCTC -3'

Sequencing Primer
(F):5'- GGTGGCACATGACTTAAATCCTAGC -3'
(R):5'- AAAGCTTCCGTGGGATTCTCATTTC -3'
Posted On 2022-04-18