Mutagenetix > Incidental Mutation

Incidental Mutation 'R6182:Ctsl'

487055

Institutional Source

Beutler Lab

Gene Symbol

Ctsl

Ensembl Gene

ENSMUSG00000021477

Gene Name

cathepsin L

Synonyms

MEP, 1190035F06Rik, Cat L, major excreted protein

MMRRC Submission

044324-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6182 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

64509704-64518586 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 64515786 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 95 (Y95C)

Ref Sequence

ENSEMBL: ENSMUSP00000152497 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021933] [ENSMUST00000220737] [ENSMUST00000222462] [ENSMUST00000222517] [ENSMUST00000223494]

AlphaFold

P06797

Predicted Effect

probably damaging
Transcript: ENSMUST00000021933
AA Change: Y95C

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000021933
Gene: ENSMUSG00000021477
AA Change: Y95C

Domain	Start	End	E-Value	Type
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

noncoding transcript
Transcript: ENSMUST00000220617

Predicted Effect

possibly damaging
Transcript: ENSMUST00000220737
AA Change: Y95C

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221233

Predicted Effect

probably damaging
Transcript: ENSMUST00000222462
AA Change: Y95C

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000222517
AA Change: Y95C

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000222971

Predicted Effect

probably benign
Transcript: ENSMUST00000223494

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.4%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	T	C	9: 90,074,489 (GRCm39)	S884P	probably benign	Het
Akap13	C	A	7: 75,236,028 (GRCm39)	A201E	probably benign	Het
Ces1f	T	G	8: 93,983,124 (GRCm39)	E540A	probably benign	Het
Chid1	T	A	7: 141,108,415 (GRCm39)	M137L	probably benign	Het
Chsy3	A	G	18: 59,312,414 (GRCm39)	T296A	probably benign	Het
Clec4f	A	G	6: 83,622,284 (GRCm39)	V519A	probably benign	Het
Clk4	T	A	11: 51,159,009 (GRCm39)	F41I	possibly damaging	Het
Cntnap5c	A	G	17: 58,183,390 (GRCm39)	D32G	probably benign	Het
Cyp2c54	T	C	19: 40,036,005 (GRCm39)	M302V	probably benign	Het
Cyp2c65	C	G	19: 39,049,606 (GRCm39)	L45V	probably benign	Het
Cyp2j6	G	C	4: 96,424,323 (GRCm39)	L145V	probably damaging	Het
Daam1	C	T	12: 72,006,661 (GRCm39)	Q693*	probably null	Het
Dgcr8	A	T	16: 18,098,172 (GRCm39)	D406E	probably benign	Het
Dock2	G	T	11: 34,179,476 (GRCm39)	P1760Q	probably damaging	Het
Epb41l2	G	A	10: 25,383,715 (GRCm39)	R940H	probably damaging	Het
Erc2	A	C	14: 28,039,210 (GRCm39)	D951A	probably damaging	Het
Fbxw7	T	C	3: 84,723,078 (GRCm39)		probably null	Het
Frem2	T	A	3: 53,555,390 (GRCm39)	I1716F	probably damaging	Het
Fus	A	G	7: 127,576,465 (GRCm39)	D295G	probably damaging	Het
Gm5093	A	G	17: 46,750,568 (GRCm39)	I153T	probably benign	Het
Gnptab	T	C	10: 88,265,342 (GRCm39)	V318A	possibly damaging	Het
Gpc2	T	C	5: 138,276,676 (GRCm39)	D150G	probably benign	Het
Gsc2	A	G	16: 17,731,483 (GRCm39)	*215R	probably null	Het
Hectd3	T	C	4: 116,857,476 (GRCm39)	S552P	probably damaging	Het
Katnal1	C	A	5: 148,841,407 (GRCm39)	K152N	possibly damaging	Het
Kcnh1	A	T	1: 191,873,361 (GRCm39)	T16S	probably damaging	Het
Lrrc71	T	C	3: 87,653,101 (GRCm39)	D105G	probably benign	Het
Mon2	T	C	10: 122,874,564 (GRCm39)		probably null	Het
Mroh9	G	A	1: 162,893,612 (GRCm39)	Q188*	probably null	Het
Mtmr14	A	G	6: 113,246,469 (GRCm39)	S81G	possibly damaging	Het
Nrap	T	A	19: 56,350,130 (GRCm39)	M628L	probably benign	Het
Odad3	A	G	9: 21,901,698 (GRCm39)	F553S	probably damaging	Het
Or1o1	T	A	17: 37,716,883 (GRCm39)	I148K	possibly damaging	Het
Or5k1	A	G	16: 58,617,655 (GRCm39)	Y185H	probably damaging	Het
Pals2	A	G	6: 50,175,206 (GRCm39)	I506V	probably benign	Het
Pate4	A	T	9: 35,519,586 (GRCm39)	S35T	possibly damaging	Het
Pkd1l1	T	C	11: 8,815,555 (GRCm39)	E1452G	probably benign	Het
Pld5	T	C	1: 175,872,420 (GRCm39)	D239G	probably benign	Het
Ppef2	C	T	5: 92,374,925 (GRCm39)	V728M	probably damaging	Het
Rasip1	TGCCGCCGCCGCCGCCGCCGCCGC	TGCCGCCGCCGCCGCCGCCGC	7: 45,277,879 (GRCm39)		probably benign	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Serpina3c	C	A	12: 104,115,690 (GRCm39)	V285L	probably benign	Het
Serpinb9f	T	C	13: 33,518,405 (GRCm39)	S302P	probably damaging	Het
Sis	C	T	3: 72,811,626 (GRCm39)	V1642I	probably benign	Het
Slc12a4	G	A	8: 106,674,531 (GRCm39)	L601F	probably damaging	Het
Slc39a6	G	T	18: 24,734,013 (GRCm39)	N225K	probably benign	Het
Snrnp70	G	A	7: 45,026,497 (GRCm39)	R291*	probably null	Het
Spin1	C	T	13: 51,298,374 (GRCm39)	T131I	probably benign	Het
St18	T	G	1: 6,914,342 (GRCm39)		probably null	Het
Stox1	A	G	10: 62,500,721 (GRCm39)	L613P	probably damaging	Het
Tgm3	T	G	2: 129,867,221 (GRCm39)	Y155*	probably null	Het
Tmem67	T	C	4: 12,051,402 (GRCm39)	I809V	probably benign	Het
Tnc	T	A	4: 63,927,033 (GRCm39)	D831V	probably damaging	Het
Ttll13	A	T	7: 79,909,981 (GRCm39)	E762D	probably benign	Het
Unc5b	A	T	10: 60,601,015 (GRCm39)	V937E	probably damaging	Het
Vmn1r34	A	G	6: 66,614,312 (GRCm39)	I142T	probably damaging	Het
Vmn2r104	A	G	17: 20,250,507 (GRCm39)	M588T	probably benign	Het
Vmn2r77	T	C	7: 86,460,957 (GRCm39)	V761A	probably damaging	Het
Wdr48	G	T	9: 119,753,832 (GRCm39)	G665W	probably damaging	Het
Xpot	T	A	10: 121,442,163 (GRCm39)	R550S	probably damaging	Het
Ydjc	A	G	16: 16,964,943 (GRCm39)	T33A	probably benign	Het
Zfc3h1	A	G	10: 115,226,764 (GRCm39)	T274A	probably benign	Het
Zfp202	G	A	9: 40,118,638 (GRCm39)	G17E	probably damaging	Het
Zfp788	T	A	7: 41,299,940 (GRCm39)	C859S	probably damaging	Het
Zscan4c	T	C	7: 10,740,709 (GRCm39)	M76T	probably benign	Het

Other mutations in Ctsl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R9354:Ctsl	UTSW	13	64,516,850 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTCGAGTCTCTTCCAAGTGTG -3'
(R):5'- GAATGATCCAGCTACACAACGGG -3'

Sequencing Primer
(F):5'- TGGACCCTGGGGATCAAACTC -3'
(R):5'- CTTGAACTCTTGAGCCCT -3'

Posted On

2017-10-10