Mutagenetix > Incidental Mutation

Incidental Mutation 'R1847:Ctsh'

207809

Institutional Source

Beutler Lab

Gene Symbol

Ctsh

Ensembl Gene

ENSMUSG00000032359

Gene Name

cathepsin H

Synonyms

Cat H

MMRRC Submission

039872-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1847 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89936320-89958148 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 89943618 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 81 (M81K)

Ref Sequence

ENSEMBL: ENSMUSP00000117599 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034915] [ENSMUST00000123320] [ENSMUST00000132718] [ENSMUST00000143172] [ENSMUST00000185459]

AlphaFold

P49935

Predicted Effect

probably benign
Transcript: ENSMUST00000034915
AA Change: M55K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000034915
Gene: ENSMUSG00000032359
AA Change: M55K

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Inhibitor_I29	33	88	7.24e-17	SMART
Pept_C1	114	330	7.46e-108	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000123320

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127842

Predicted Effect

probably benign
Transcript: ENSMUST00000132718
AA Change: M81K

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000117599
Gene: ENSMUSG00000032359
AA Change: M81K

Domain	Start	End	E-Value	Type
Inhibitor_I29	59	114	7.24e-17	SMART
Pfam:Peptidase_C1	140	198	4.4e-25	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142750

Predicted Effect

probably benign
Transcript: ENSMUST00000143172

SMART Domains

Protein: ENSMUSP00000114427
Gene: ENSMUSG00000032359

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
SCOP:d1cs8a_	62	118	3e-6	SMART
Blast:Pept_C1	63	119	3e-24	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000185459
AA Change: M52K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000140437
Gene: ENSMUSG00000032359
AA Change: M52K

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Inhibitor_I29	30	85	5.3e-21	SMART
Pept_C1	85	291	9.4e-87	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187437

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190338

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 94.9%
20x: 91.2%

Validation Efficiency

97% (68/70)

MGI Phenotype

FUNCTION: This gene encodes a member of the peptidase C1 (papain) family of cysteine proteases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include the cathepsin H mini, heavy, and light chains. In rat and human, these three chains can associate to form the mature enzyme, which has both aminopeptidase and endopeptidase activities. Homozygous knockout mice for this gene exhibit impaired lung surfactant processing and reduced tumorigenesis in a pancreatic cancer model. Multiple pseudogenes of this gene have been identified in the genome. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a reporter allele exhibit impaired lung surfactant and an abnormal eye globe with elongated axial length. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	C	A	16: 14,263,313 (GRCm39)	R758S	probably benign	Het
Acnat1	A	T	4: 49,447,716 (GRCm39)	H288Q	possibly damaging	Het
Adamts1	T	C	16: 85,599,114 (GRCm39)	E162G	possibly damaging	Het
Akap11	A	G	14: 78,751,101 (GRCm39)	S429P	probably benign	Het
Alg14	T	C	3: 121,155,415 (GRCm39)	Y212H	probably damaging	Het
Cacna1g	T	C	11: 94,357,007 (GRCm39)	T97A	probably damaging	Het
Ccdc112	T	A	18: 46,420,821 (GRCm39)	N310Y	possibly damaging	Het
Cenpl	A	T	1: 160,913,574 (GRCm39)	Y328F	probably damaging	Het
Cep162	G	A	9: 87,086,133 (GRCm39)	H1064Y	probably benign	Het
Cnksr3	T	A	10: 7,104,324 (GRCm39)	E126D	probably benign	Het
D6Wsu163e	A	G	6: 126,932,112 (GRCm39)	T284A	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dnaaf1	T	A	8: 120,309,616 (GRCm39)	M196K	probably benign	Het
Dnah9	C	A	11: 65,725,212 (GRCm39)	G4314C	probably damaging	Het
Dph1	A	G	11: 75,070,557 (GRCm39)	Y361H	probably damaging	Het
Ect2	C	T	3: 27,204,221 (GRCm39)	M29I	probably benign	Het
Eif3h	T	C	15: 51,661,066 (GRCm39)	Y167C	probably damaging	Het
Epc2	C	T	2: 49,422,101 (GRCm39)	R332C	probably damaging	Het
Fras1	C	A	5: 96,897,282 (GRCm39)		probably null	Het
Gfm2	A	G	13: 97,299,442 (GRCm39)	I386V	probably benign	Het
Gpd1l	G	A	9: 114,743,399 (GRCm39)	T167I	probably damaging	Het
Hsph1	T	A	5: 149,546,950 (GRCm39)	K567*	probably null	Het
Igfn1	T	G	1: 135,897,126 (GRCm39)	S1147R	probably benign	Het
Itgb4	T	C	11: 115,874,590 (GRCm39)	V406A	probably benign	Het
Kcna2	A	G	3: 107,012,429 (GRCm39)	I337V	possibly damaging	Het
Kcnab1	T	C	3: 65,209,615 (GRCm39)		probably null	Het
Kri1	G	T	9: 21,191,788 (GRCm39)		probably benign	Het
Lrguk	T	A	6: 34,110,322 (GRCm39)	I801K	possibly damaging	Het
Magi2	A	T	5: 20,807,458 (GRCm39)	N871Y	probably damaging	Het
Map3k10	G	T	7: 27,360,981 (GRCm39)		probably null	Het
Mrps25	T	C	6: 92,155,721 (GRCm39)	T71A	probably damaging	Het
Myo15a	G	A	11: 60,390,321 (GRCm39)	W945*	probably null	Het
Ncan	A	T	8: 70,555,104 (GRCm39)	I1021N	probably damaging	Het
Ncf4	C	A	15: 78,134,582 (GRCm39)	S11R	probably benign	Het
Neb	A	C	2: 52,086,307 (GRCm39)	S5255R	possibly damaging	Het
Nop2	TGATGAAGATGAAGATGA	TGATGAAGATGA	6: 125,114,042 (GRCm39)		probably benign	Het
Or4c102	G	A	2: 88,422,516 (GRCm39)	A123T	probably damaging	Het
Or5ak22	A	T	2: 85,230,785 (GRCm39)	F31I	probably damaging	Het
Or5d16	T	C	2: 87,773,065 (GRCm39)		probably null	Het
Pacs1	T	C	19: 5,203,742 (GRCm39)	I328V	probably damaging	Het
Pafah2	GCCCC	GCCCCC	4: 134,152,852 (GRCm39)		probably null	Het
Pan2	A	G	10: 128,140,247 (GRCm39)	H56R	possibly damaging	Het
Pigo	G	A	4: 43,024,710 (GRCm39)	R124*	probably null	Het
Ppfia2	A	G	10: 106,763,571 (GRCm39)	D1188G	probably benign	Het
Ppp1r16b	A	G	2: 158,603,355 (GRCm39)	N327D	probably damaging	Het
Psd3	A	G	8: 68,172,656 (GRCm39)	C223R	possibly damaging	Het
Rad50	A	G	11: 53,592,934 (GRCm39)	V72A	possibly damaging	Het
Rcor3	T	A	1: 191,785,133 (GRCm39)	D445V	possibly damaging	Het
Rundc1	T	A	11: 101,324,507 (GRCm39)	H404Q	probably benign	Het
Ryr1	T	C	7: 28,779,236 (GRCm39)	K2083E	probably benign	Het
Scd3	C	A	19: 44,224,281 (GRCm39)	H171Q	probably damaging	Het
Scrn2	T	C	11: 96,923,021 (GRCm39)	F155L	probably benign	Het
Serpina12	A	T	12: 103,998,769 (GRCm39)	L323Q	probably damaging	Het
Sptlc3	T	A	2: 139,467,843 (GRCm39)	M467K	probably benign	Het
Stard9	G	T	2: 120,528,970 (GRCm39)	R1742S	possibly damaging	Het
Thbd	A	T	2: 148,249,604 (GRCm39)	L88*	probably null	Het
Tln2	G	A	9: 67,269,969 (GRCm39)	Q477*	probably null	Het
Tnn	T	A	1: 159,943,752 (GRCm39)	E1020D	possibly damaging	Het
Trip12	A	T	1: 84,726,990 (GRCm39)	H3Q	probably damaging	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		probably benign	Het
Vmp1	G	A	11: 86,534,413 (GRCm39)	Q165*	probably null	Het
Zfp758	T	A	17: 22,594,204 (GRCm39)	M230K	probably benign	Het

Other mutations in Ctsh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00786:Ctsh	APN	9	89,946,291 (GRCm39)	missense	probably damaging	1.00
IGL01875:Ctsh	APN	9	89,946,260 (GRCm39)	missense	probably damaging	1.00
IGL02008:Ctsh	APN	9	89,943,600 (GRCm39)	missense	probably damaging	1.00
R0336:Ctsh	UTSW	9	89,957,791 (GRCm39)	missense	probably damaging	1.00
R0632:Ctsh	UTSW	9	89,943,635 (GRCm39)	missense	possibly damaging	0.82
R1488:Ctsh	UTSW	9	89,953,944 (GRCm39)	missense	possibly damaging	0.89
R3613:Ctsh	UTSW	9	89,957,763 (GRCm39)	missense	probably damaging	1.00
R4270:Ctsh	UTSW	9	89,943,651 (GRCm39)	missense	probably damaging	0.99
R4860:Ctsh	UTSW	9	89,936,601 (GRCm39)	missense	probably benign	0.01
R5187:Ctsh	UTSW	9	89,936,643 (GRCm39)	missense	probably damaging	1.00
R5469:Ctsh	UTSW	9	89,942,564 (GRCm39)	critical splice donor site	probably null
R5900:Ctsh	UTSW	9	89,946,621 (GRCm39)	missense	probably damaging	1.00
R5937:Ctsh	UTSW	9	89,943,509 (GRCm39)	missense	probably benign
R6303:Ctsh	UTSW	9	89,944,796 (GRCm39)	missense	possibly damaging	0.83
R6657:Ctsh	UTSW	9	89,942,555 (GRCm39)	missense	probably benign	0.30
R6905:Ctsh	UTSW	9	89,944,819 (GRCm39)	missense	probably damaging	1.00
R6985:Ctsh	UTSW	9	89,936,657 (GRCm39)	missense	possibly damaging	0.90
R7171:Ctsh	UTSW	9	89,949,154 (GRCm39)	missense	probably benign
R7342:Ctsh	UTSW	9	89,957,040 (GRCm39)	missense	probably benign
R7819:Ctsh	UTSW	9	89,942,556 (GRCm39)	missense	possibly damaging	0.71
R7884:Ctsh	UTSW	9	89,943,476 (GRCm39)	missense	probably benign
R8099:Ctsh	UTSW	9	89,946,300 (GRCm39)	missense	probably damaging	1.00
R8294:Ctsh	UTSW	9	89,950,489 (GRCm39)	missense	possibly damaging	0.74
R9195:Ctsh	UTSW	9	89,944,815 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- AGTGGCAGAATGAAAATCCCC -3'
(R):5'- TATGCCTGTTAGCCCTGAGC -3'

Sequencing Primer
(F):5'- ATCCCCATGGACTGGTGATTCAG -3'
(R):5'- GAGCAGGTCCTTTTTACCAGC -3'

Posted On

2014-06-23