Mutagenetix > Incidental Mutation

Incidental Mutation 'R0518:Ctsl'

48336

Institutional Source

Beutler Lab

Gene Symbol

Ctsl

Ensembl Gene

ENSMUSG00000021477

Gene Name

cathepsin L

Synonyms

MEP, 1190035F06Rik, Cat L, major excreted protein

MMRRC Submission

038711-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0518 (G1)

Quality Score

199

Status

Not validated

Chromosome

Chromosomal Location

64509704-64518586 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 64513032 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 297 (L297F)

Ref Sequence

ENSEMBL: ENSMUSP00000152169 (fasta)

Gene Model

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

AlphaFold

P06797

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021933
AA Change: L297F

PolyPhen 2 Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000021933
Gene: ENSMUSG00000021477
AA Change: L297F

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

probably benign
Transcript: ENSMUST00000220737

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221233

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221966

Predicted Effect

probably benign
Transcript: ENSMUST00000222462

Predicted Effect

possibly damaging
Transcript: ENSMUST00000222517
AA Change: L297F

PolyPhen 2 Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

unknown
Transcript: ENSMUST00000222971
AA Change: L152F

Predicted Effect

probably benign
Transcript: ENSMUST00000223494

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.5%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,181,112 (GRCm39)		probably null	Het
Acsbg3	T	A	17: 57,192,169 (GRCm39)	Y577*	probably null	Het
Acsm5	T	C	7: 119,135,023 (GRCm39)	V327A	possibly damaging	Het
Agt	C	A	8: 125,283,839 (GRCm39)	E427*	probably null	Het
Akr1c14	T	C	13: 4,131,016 (GRCm39)	L236S	probably damaging	Het
Ammecr1l	C	T	18: 31,904,954 (GRCm39)	S65L	probably benign	Het
Ankrd33b	T	C	15: 31,367,432 (GRCm39)	D36G	probably damaging	Het
Ano8	A	T	8: 71,931,902 (GRCm39)	C766S	probably benign	Het
Arhgef16	G	T	4: 154,375,491 (GRCm39)	P168T	probably damaging	Het
Asic1	C	T	15: 99,596,700 (GRCm39)	R499C	probably damaging	Het
Atpsckmt	T	G	15: 31,606,103 (GRCm39)	S20R	probably benign	Het
Bank1	C	T	3: 135,919,703 (GRCm39)	C364Y	probably damaging	Het
Bmerb1	T	A	16: 13,804,676 (GRCm39)	S8T	possibly damaging	Het
Cacna1s	C	A	1: 136,004,597 (GRCm39)	D132E	probably benign	Het
Capn5	C	T	7: 97,782,089 (GRCm39)	R217Q	probably damaging	Het
Clasrp	A	G	7: 19,322,528 (GRCm39)	I284T	probably benign	Het
Coa3	T	A	11: 101,169,716 (GRCm39)	K13M	probably damaging	Het
Col13a1	A	T	10: 61,698,525 (GRCm39)	M512K	unknown	Het
Colgalt2	G	T	1: 152,384,312 (GRCm39)	A551S	possibly damaging	Het
Crhbp	C	A	13: 95,580,403 (GRCm39)		probably null	Het
Cryba2	T	C	1: 74,929,284 (GRCm39)	Y153C	possibly damaging	Het
Cryzl2	T	C	1: 157,292,000 (GRCm39)	V93A	probably damaging	Het
Cyp2r1	T	G	7: 114,152,135 (GRCm39)	H274P	probably benign	Het
Ddx4	A	T	13: 112,761,313 (GRCm39)		probably null	Het
Dnai4	A	C	4: 102,921,727 (GRCm39)	Y464*	probably null	Het
Dnd1	A	G	18: 36,897,096 (GRCm39)	V350A	possibly damaging	Het
Dsg1b	A	T	18: 20,521,221 (GRCm39)	Q26L	probably benign	Het
Fam20b	C	A	1: 156,515,026 (GRCm39)	V280F	possibly damaging	Het
Foxb2	G	T	19: 16,849,820 (GRCm39)	C395*	probably null	Het
Glb1	ACCC	ACC	9: 114,250,812 (GRCm39)		probably null	Het
Gm9930	A	T	10: 9,410,547 (GRCm39)		noncoding transcript	Het
Hdac7	G	A	15: 97,704,380 (GRCm39)	Q497*	probably null	Het
Hk3	C	T	13: 55,162,239 (GRCm39)		probably null	Het
Hsd3b7	A	G	7: 127,402,251 (GRCm39)	T330A	probably benign	Het
Il20ra	A	T	10: 19,635,388 (GRCm39)	Q543L	probably damaging	Het
Itk	T	A	11: 46,251,115 (GRCm39)	D163V	probably damaging	Het
Kcnu1	T	G	8: 26,400,916 (GRCm39)	L688R	probably damaging	Het
Kng1	G	A	16: 22,879,232 (GRCm39)	A45T	possibly damaging	Het
Kti12	T	A	4: 108,705,776 (GRCm39)	V230E	possibly damaging	Het
Lhfpl7	T	A	5: 113,383,873 (GRCm39)	L97*	probably null	Het
Mgat5	T	A	1: 127,312,584 (GRCm39)	I241N	probably damaging	Het
Mkln1	A	G	6: 31,445,067 (GRCm39)	N321S	probably benign	Het
Mllt10	T	G	2: 18,076,017 (GRCm39)		probably null	Het
Ms4a1	C	A	19: 11,236,043 (GRCm39)		probably null	Het
Ngly1	C	T	14: 16,290,774 (GRCm38)	Q419*	probably null	Het
Nipsnap3b	T	A	4: 53,021,343 (GRCm39)	F243I	probably damaging	Het
Ogfod1	T	A	8: 94,781,876 (GRCm39)		probably null	Het
Or10a2	T	A	7: 106,673,965 (GRCm39)	L310Q	possibly damaging	Het
Or2y11	C	T	11: 49,443,291 (GRCm39)	T239M	probably damaging	Het
Or51v8	T	A	7: 103,319,696 (GRCm39)	I181F	possibly damaging	Het
Or8c20	A	C	9: 38,260,499 (GRCm39)	N40T	probably damaging	Het
P2ry14	T	A	3: 59,022,625 (GRCm39)	E287D	probably damaging	Het
Pank4	A	T	4: 155,061,082 (GRCm39)	R510S	possibly damaging	Het
Pcsk6	T	A	7: 65,629,915 (GRCm39)	V347E	possibly damaging	Het
Peg3	T	C	7: 6,714,427 (GRCm39)	E265G	probably damaging	Het
Pik3c2b	C	A	1: 133,033,730 (GRCm39)	P1578H	probably damaging	Het
Pkd1	A	G	17: 24,814,193 (GRCm39)	S4188G	probably benign	Het
Ppp1r26	A	G	2: 28,342,314 (GRCm39)	D648G	probably damaging	Het
Ptprs	A	G	17: 56,726,621 (GRCm39)		probably null	Het
Rab24	A	T	13: 55,468,738 (GRCm39)		probably null	Het
Rap1gap2	A	T	11: 74,332,592 (GRCm39)	M71K	probably damaging	Het
Rergl	T	G	6: 139,473,524 (GRCm39)	K42T	probably damaging	Het
Rigi	C	T	4: 40,216,354 (GRCm39)		probably null	Het
Septin5	T	C	16: 18,443,647 (GRCm39)	T92A	probably benign	Het
Ski	A	G	4: 155,243,743 (GRCm39)		probably null	Het
Slc17a8	A	G	10: 89,412,192 (GRCm39)	S414P	probably benign	Het
Slc25a36	A	T	9: 96,979,228 (GRCm39)	I71N	probably damaging	Het
Syne2	A	C	12: 76,155,636 (GRCm39)		probably null	Het
Tdrd5	C	A	1: 156,090,511 (GRCm39)	W845L	probably damaging	Het
Tfb2m	T	C	1: 179,365,389 (GRCm39)	I192V	possibly damaging	Het
Tll1	T	G	8: 64,551,505 (GRCm39)	D292A	probably damaging	Het
Trank1	A	C	9: 111,162,876 (GRCm39)	D45A	probably damaging	Het
Trim17	T	A	11: 58,859,320 (GRCm39)	V178E	probably damaging	Het
Trim9	A	T	12: 70,393,359 (GRCm39)	L195Q	probably damaging	Het
Ttc27	A	T	17: 75,163,544 (GRCm39)	R717S	possibly damaging	Het
Upk2	G	T	9: 44,365,418 (GRCm39)	P50Q	probably damaging	Het
Usp9y	A	T	Y: 1,307,880 (GRCm39)	C2319S	probably benign	Het
Vmn1r4	G	T	6: 56,933,883 (GRCm39)	C129F	probably benign	Het
Vmn2r100	A	T	17: 19,742,178 (GRCm39)	D184V	probably damaging	Het
Xpnpep3	T	G	15: 81,311,693 (GRCm39)	I133S	possibly damaging	Het
Zfp628	A	T	7: 4,922,939 (GRCm39)	Q387L	probably damaging	Het
Zic2	CCCACCACCACCATCACCACCACCACC	CCCACCATCACCACCACCACC	14: 122,713,776 (GRCm39)		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
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
R9354:Ctsl	UTSW	13	64,516,850 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCACACAAGCTGTACTTTCTGCTGG -3'
(R):5'- TTCTGTCCTGTGGTGACAGCAAC -3'

Sequencing Primer
(F):5'- GCTGAAATCATACAGCCTTACTG -3'
(R):5'- GTGGTGACAGCAACCTCTTATTTAG -3'

Posted On

2013-06-12