Mutagenetix > Incidental Mutation

Incidental Mutation 'R1546:Ctsl'

172202

Institutional Source

Beutler Lab

Gene Symbol

Ctsl

Ensembl Gene

ENSMUSG00000021477

Gene Name

cathepsin L

Synonyms

MEP, 1190035F06Rik, Cat L, major excreted protein

MMRRC Submission

039585-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1546 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

64509704-64518586 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64515693 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 126 (V126A)

Ref Sequence

ENSEMBL: ENSMUSP00000152169 (fasta)

Gene Model

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

AlphaFold

P06797

Predicted Effect

probably damaging
Transcript: ENSMUST00000021933
AA Change: V126A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021933
Gene: ENSMUSG00000021477
AA Change: V126A

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 damaging
Transcript: ENSMUST00000220737
AA Change: V126A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221233

Predicted Effect

probably damaging
Transcript: ENSMUST00000222462
AA Change: V126A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000222517
AA Change: V126A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000222971

Predicted Effect

probably benign
Transcript: ENSMUST00000223494

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.2%
20x: 88.2%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	C	4: 148,026,232 (GRCm39)	S251P	probably damaging	Het
Aaas	C	A	15: 102,255,153 (GRCm39)	R79L	probably benign	Het
Acap2	C	A	16: 30,923,754 (GRCm39)	E657*	probably null	Het
Adgrg5	A	T	8: 95,668,258 (GRCm39)	E441V	probably benign	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
AY358078	C	T	14: 52,057,876 (GRCm39)		probably null	Het
Bco2	A	G	9: 50,461,929 (GRCm39)	V25A	possibly damaging	Het
Bltp1	T	C	3: 36,924,205 (GRCm39)	V10A	possibly damaging	Het
Carf	T	A	1: 60,165,195 (GRCm39)		probably null	Het
Ccdc38	A	T	10: 93,401,741 (GRCm39)	I134L	probably benign	Het
Cgnl1	A	G	9: 71,633,097 (GRCm39)	S85P	probably benign	Het
Cwc27	A	C	13: 104,938,693 (GRCm39)	S206A	probably damaging	Het
D630045J12Rik	A	G	6: 38,167,590 (GRCm39)	I1004T	probably damaging	Het
Dgki	A	G	6: 37,027,138 (GRCm39)	V401A	probably damaging	Het
Dpp8	C	T	9: 64,970,775 (GRCm39)	H545Y	possibly damaging	Het
Dpy19l1	A	T	9: 24,386,680 (GRCm39)	C205S	probably damaging	Het
Enpp2	C	T	15: 54,709,225 (GRCm39)	E797K	probably benign	Het
Ephb2	C	T	4: 136,498,320 (GRCm39)	R253H	probably damaging	Het
Esrra	T	C	19: 6,897,665 (GRCm39)	T31A	probably benign	Het
Ewsr1	C	A	11: 5,028,574 (GRCm39)		probably benign	Het
Flt4	G	T	11: 49,522,808 (GRCm39)	R475L	probably benign	Het
Gm13547	A	G	2: 29,653,921 (GRCm39)	E138G	possibly damaging	Het
Gm572	A	T	4: 148,751,276 (GRCm39)	R216S	possibly damaging	Het
H2ac8	A	G	13: 23,755,119 (GRCm39)	V55A	probably damaging	Het
Hapln2	T	A	3: 87,931,404 (GRCm39)	Y37F	probably benign	Het
Hcn1	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	13: 118,112,302 (GRCm39)		probably benign	Het
Hhla1	C	T	15: 65,805,176 (GRCm39)	A369T	probably benign	Het
Hmg20a	T	A	9: 56,374,685 (GRCm39)	F14I	possibly damaging	Het
Iqca1l	A	T	5: 24,760,426 (GRCm39)		probably null	Het
Itga2	A	T	13: 114,985,956 (GRCm39)	S940T	possibly damaging	Het
Kcnt2	A	G	1: 140,359,116 (GRCm39)	N377S	probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lhx6	A	G	2: 35,981,049 (GRCm39)	S298P	probably benign	Het
Lrp2	C	T	2: 69,332,954 (GRCm39)	G1521D	probably damaging	Het
Mogat2	A	G	7: 98,881,766 (GRCm39)	W57R	probably damaging	Het
Ms4a3	T	C	19: 11,610,271 (GRCm39)	N97S	probably benign	Het
Myo1a	A	G	10: 127,548,493 (GRCm39)	D380G	probably damaging	Het
Nufip2	T	A	11: 77,582,432 (GRCm39)	D115E	probably damaging	Het
Ogn	A	T	13: 49,762,809 (GRCm39)	K50N	probably benign	Het
Or5ac20	T	C	16: 59,104,366 (GRCm39)	R165G	probably damaging	Het
Or8c10	A	T	9: 38,278,844 (GRCm39)	M1L	probably benign	Het
Pde8b	G	A	13: 95,182,951 (GRCm39)	T269I	probably damaging	Het
Ppargc1b	A	T	18: 61,443,677 (GRCm39)	D495E	probably damaging	Het
Prdm16	C	A	4: 154,613,117 (GRCm39)	K103N	possibly damaging	Het
Proc	C	T	18: 32,260,463 (GRCm39)	G221S	probably damaging	Het
Pxk	A	G	14: 8,164,091 (GRCm38)	N561S	probably damaging	Het
Rapgef5	A	G	12: 117,610,721 (GRCm39)	N323S	probably benign	Het
Slc6a13	T	G	6: 121,309,333 (GRCm39)	D281E	possibly damaging	Het
Slc8a1	T	C	17: 81,955,676 (GRCm39)	Y454C	probably damaging	Het
Sntg2	C	A	12: 30,338,295 (GRCm39)	L115F	probably damaging	Het
Spata13	A	G	14: 60,993,857 (GRCm39)	D1103G	probably damaging	Het
Supv3l1	G	A	10: 62,268,225 (GRCm39)	A540V	probably benign	Het
Tet1	A	T	10: 62,648,689 (GRCm39)	D1914E	probably damaging	Het
Tmem30a	A	G	9: 79,678,570 (GRCm39)	*329Q	probably null	Het
Tspan5	A	T	3: 138,604,102 (GRCm39)	L162F	probably damaging	Het
Ttn	T	A	2: 76,549,396 (GRCm39)	K31760N	probably damaging	Het
Tyr	A	T	7: 87,087,200 (GRCm39)	D437E	probably benign	Het
Ubr4	T	A	4: 139,144,238 (GRCm39)	L1427*	probably null	Het
Utrn	C	A	10: 12,312,108 (GRCm39)	D616Y	probably damaging	Het
Vcan	A	G	13: 89,841,075 (GRCm39)	S1490P	probably damaging	Het
Vcl	T	A	14: 21,059,018 (GRCm39)	C545S	probably damaging	Het
Vmn2r4	C	T	3: 64,314,309 (GRCm39)	G224D	probably damaging	Het
Vmn2r97	T	A	17: 19,168,110 (GRCm39)	V788E	probably damaging	Het
Vrtn	G	A	12: 84,695,282 (GRCm39)	V11M	probably damaging	Het
Zbtb21	A	T	16: 97,753,227 (GRCm39)	V380D	probably damaging	Het
Zcchc14	G	A	8: 122,331,002 (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
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
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'- GCACAACAGCCTTTATACATGCACAC -3'
(R):5'- GAACTCTTGAGCCCTCTCCTCCA -3'

Sequencing Primer
(F):5'- aaggctaaagcacagaggac -3'
(R):5'- TTTCAGGAACCGCTGATGCT -3'

Posted On

2014-04-13