Mutagenetix > Incidental Mutation

Incidental Mutation 'R8331:Ctsc'

644369

Institutional Source

Beutler Lab

Gene Symbol

Ctsc

Ensembl Gene

ENSMUSG00000030560

Gene Name

cathepsin C

Synonyms

dipeptidylpeptidase 1, DPPI, DPP1

MMRRC Submission

067860-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R8331 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87927293-87960096 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87946328 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 119 (H119R)

Ref Sequence

ENSEMBL: ENSMUSP00000032779 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032779] [ENSMUST00000128791]

AlphaFold

P97821

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032779
AA Change: H119R

PolyPhen 2 Score 0.530 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000032779
Gene: ENSMUSG00000030560
AA Change: H119R

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:CathepsinC_exc	25	141	1.5e-48	PFAM
Pept_C1	230	457	1.05e-79	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000128791
AA Change: H118R

PolyPhen 2 Score 0.376 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000119503
Gene: ENSMUSG00000030560
AA Change: H118R

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:CathepsinC_exc	25	141	7.1e-62	PFAM
SCOP:d3gcb__	144	254	4e-8	SMART
Blast:Pept_C1	229	254	4e-9	BLAST

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (75/75)

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 dipeptidyl peptidase 1 light, heavy, and exclusion domain chains, which together comprise one subunit of the homotetrameric enzyme. This enzyme has amino dipeptidase activity and may play a role in the activation of granzymes during inflammation. Homozygous knockout mice for this gene exhibit impaired granzyme activation and enhanced survival in a sepsis model. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygotes for some targeted null mutations exhibit cytotoxic lymphocytes with inactive granzymes A and B which are incapable of granule-mediated apoptosis. Mutant mast cells lack activated chymase activity. Homozygotes for other alleles display a scruffy coat with age and behavioral abnormalities [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	C	A	12: 84,650,726 (GRCm39)	A545S	probably damaging	Het
Alox12e	A	T	11: 70,211,923 (GRCm39)	S195R	probably benign	Het
Angpt1	T	C	15: 42,539,653 (GRCm39)	R69G	probably damaging	Het
Apob	A	G	12: 8,051,882 (GRCm39)	Q1149R	probably benign	Het
As3mt	A	T	19: 46,697,445 (GRCm39)	E71V	probably damaging	Het
Atp9a	A	T	2: 168,517,217 (GRCm39)	V372E	probably benign	Het
Bmal1	C	A	7: 112,912,703 (GRCm39)	N586K	probably benign	Het
Bmp2k	T	C	5: 97,192,928 (GRCm39)	F259S	probably damaging	Het
Cacna1c	T	C	6: 118,607,290 (GRCm39)	T1364A		Het
Casp7	T	A	19: 56,429,397 (GRCm39)	I261N	probably damaging	Het
Ccdc154	A	G	17: 25,386,927 (GRCm39)	K319E	probably benign	Het
Cdc42bpg	C	A	19: 6,363,477 (GRCm39)	L446I	probably benign	Het
Cdkl3	A	T	11: 51,917,704 (GRCm39)	T334S	probably benign	Het
Cep250	T	A	2: 155,832,173 (GRCm39)	L1366Q	probably damaging	Het
Chp2	G	A	7: 121,821,133 (GRCm39)	D165N	probably damaging	Het
Ckap5	T	A	2: 91,406,545 (GRCm39)	M782K	probably damaging	Het
Col20a1	T	A	2: 180,638,559 (GRCm39)	I433N	possibly damaging	Het
Col4a2	A	T	8: 11,463,985 (GRCm39)	R320*	probably null	Het
Cubn	T	C	2: 13,345,053 (GRCm39)	H2121R	probably damaging	Het
Cyp4v3	G	A	8: 45,768,745 (GRCm39)	R272*	probably null	Het
D630045J12Rik	T	C	6: 38,125,409 (GRCm39)	E1535G	probably damaging	Het
Dido1	A	T	2: 180,302,242 (GRCm39)	D1887E	probably benign	Het
Dnah6	T	C	6: 73,001,983 (GRCm39)	E3903G	probably benign	Het
Eif4a3l2	T	C	6: 116,529,323 (GRCm39)	I400T	probably damaging	Het
Ep300	T	C	15: 81,485,411 (GRCm39)	S133P	unknown	Het
Ercc3	T	C	18: 32,373,871 (GRCm39)	S73P	probably damaging	Het
Fis1	T	C	5: 136,991,987 (GRCm39)		probably null	Het
Fscb	T	A	12: 64,520,242 (GRCm39)	D408V	probably benign	Het
Gm17087	A	G	17: 8,785,539 (GRCm39)	W55R	probably damaging	Het
Gm3404	A	T	5: 146,462,759 (GRCm39)	S41C	probably damaging	Het
Greb1l	T	C	18: 10,458,706 (GRCm39)	S96P	possibly damaging	Het
Irf3	C	T	7: 44,650,383 (GRCm39)	P300S	probably damaging	Het
Klk1b4	G	A	7: 43,860,999 (GRCm39)	C214Y	probably damaging	Het
Krtap5-3	T	A	7: 141,755,563 (GRCm39)	C133*	probably null	Het
Map3k12	T	A	15: 102,410,766 (GRCm39)	R448*	probably null	Het
Map4k2	C	G	19: 6,402,853 (GRCm39)	A738G	probably damaging	Het
Matn2	A	T	15: 34,428,827 (GRCm39)	K730N	probably damaging	Het
Mpp3	C	T	11: 101,902,541 (GRCm39)		probably null	Het
N4bp2	T	A	5: 65,964,943 (GRCm39)	D997E	probably damaging	Het
Nav2	C	T	7: 49,102,371 (GRCm39)	P390S	probably benign	Het
Nme8	A	G	13: 19,843,036 (GRCm39)	S380P	probably damaging	Het
Nup210	C	T	6: 91,030,648 (GRCm39)	D878N	possibly damaging	Het
Odad3	C	T	9: 21,903,007 (GRCm39)	R441H	probably damaging	Het
Or4k49	A	G	2: 111,494,727 (GRCm39)	D52G	possibly damaging	Het
Or8c18	A	G	9: 38,203,381 (GRCm39)	I47V	possibly damaging	Het
Osbpl9	C	A	4: 108,923,378 (GRCm39)	W427L	probably damaging	Het
Pcdhb12	T	C	18: 37,570,342 (GRCm39)	V496A	probably damaging	Het
Pdlim1	G	A	19: 40,218,995 (GRCm39)	T212I	possibly damaging	Het
Phc2	C	T	4: 128,605,987 (GRCm39)	Q270*	probably null	Het
Pi4kb	G	A	3: 94,903,995 (GRCm39)	R527Q	probably null	Het
Platr25	G	T	13: 62,848,717 (GRCm39)	H48Q	probably benign	Het
Polr1a	C	T	6: 71,953,163 (GRCm39)	T1577M	probably damaging	Het
Ptprf	C	T	4: 118,083,263 (GRCm39)	V915M	probably benign	Het
Ptprh	A	G	7: 4,552,480 (GRCm39)	L928S	probably damaging	Het
Qrsl1	T	C	10: 43,752,521 (GRCm39)	N434S	probably damaging	Het
Slc44a4	T	A	17: 35,140,545 (GRCm39)	L246H	probably damaging	Het
Steap3	A	T	1: 120,169,218 (GRCm39)	C360S	possibly damaging	Het
Stk10	A	G	11: 32,538,928 (GRCm39)	T256A		Het
Tatdn3	A	T	1: 190,778,408 (GRCm39)	L261Q	probably damaging	Het
Thnsl1	T	A	2: 21,216,985 (GRCm39)	F246L	probably benign	Het
Thsd7a	A	G	6: 12,471,157 (GRCm39)	V487A		Het
Tmem41a	A	C	16: 21,766,116 (GRCm39)		probably null	Het
Togaram2	G	A	17: 72,036,221 (GRCm39)	V924M	probably damaging	Het
Trabd	T	C	15: 88,969,131 (GRCm39)	F185S	probably damaging	Het
Traf1	T	C	2: 34,838,370 (GRCm39)	D156G	probably damaging	Het
Ttn	T	C	2: 76,710,482 (GRCm39)	E8513G	unknown	Het
Txlna	C	A	4: 129,533,279 (GRCm39)	S83I	probably damaging	Het
Utrn	T	G	10: 12,490,363 (GRCm39)	T6P	probably benign	Het
Vmn2r26	T	A	6: 124,038,887 (GRCm39)	S821T	probably benign	Het
Wdhd1	A	T	14: 47,509,702 (GRCm39)		probably null	Het
Wnk1	T	C	6: 119,930,794 (GRCm39)	I917V	probably benign	Het
Wscd2	A	G	5: 113,688,996 (GRCm39)	M1V	probably null	Het
Xkr6	A	G	14: 64,056,392 (GRCm39)	H357R	unknown	Het
Zfhx2	G	T	14: 55,309,444 (GRCm39)	T885K	probably benign	Het
Zfp583	C	T	7: 6,320,554 (GRCm39)	E153K	probably benign	Het
Zmynd11	A	G	13: 9,745,190 (GRCm39)	M243T	probably benign	Het

Other mutations in Ctsc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01147:Ctsc	APN	7	87,951,479 (GRCm39)	missense	possibly damaging	0.78
IGL02709:Ctsc	APN	7	87,957,347 (GRCm39)	missense	probably damaging	0.99
IGL03103:Ctsc	APN	7	87,959,013 (GRCm39)	missense	probably benign
IGL03117:Ctsc	APN	7	87,958,988 (GRCm39)	missense	probably damaging	0.99
R0071:Ctsc	UTSW	7	87,957,357 (GRCm39)	unclassified	probably benign
R0334:Ctsc	UTSW	7	87,927,550 (GRCm39)	missense	possibly damaging	0.81
R0587:Ctsc	UTSW	7	87,946,437 (GRCm39)	missense	probably benign	0.35
R1006:Ctsc	UTSW	7	87,959,037 (GRCm39)	missense	probably damaging	1.00
R1401:Ctsc	UTSW	7	87,930,706 (GRCm39)	missense	probably damaging	1.00
R1472:Ctsc	UTSW	7	87,930,670 (GRCm39)	missense	possibly damaging	0.88
R1602:Ctsc	UTSW	7	87,927,512 (GRCm39)	missense	possibly damaging	0.77
R1650:Ctsc	UTSW	7	87,930,634 (GRCm39)	nonsense	probably null
R1656:Ctsc	UTSW	7	87,930,616 (GRCm39)	missense	possibly damaging	0.64
R1808:Ctsc	UTSW	7	87,948,750 (GRCm39)	missense	possibly damaging	0.49
R3848:Ctsc	UTSW	7	87,958,818 (GRCm39)	missense	probably benign	0.01
R4154:Ctsc	UTSW	7	87,948,755 (GRCm39)	missense	probably benign	0.01
R4614:Ctsc	UTSW	7	87,927,583 (GRCm39)	critical splice donor site	probably null
R5313:Ctsc	UTSW	7	87,958,761 (GRCm39)	missense	probably damaging	1.00
R6863:Ctsc	UTSW	7	87,951,486 (GRCm39)	nonsense	probably null
R6949:Ctsc	UTSW	7	87,930,666 (GRCm39)	missense	probably damaging	1.00
R7220:Ctsc	UTSW	7	87,946,361 (GRCm39)	missense	probably damaging	1.00
R7244:Ctsc	UTSW	7	87,951,430 (GRCm39)	missense	probably benign
R7254:Ctsc	UTSW	7	87,958,767 (GRCm39)	missense	probably damaging	1.00
R7732:Ctsc	UTSW	7	87,946,367 (GRCm39)	missense	probably damaging	0.98
R8157:Ctsc	UTSW	7	87,951,416 (GRCm39)	missense	probably benign	0.01
R8392:Ctsc	UTSW	7	87,946,451 (GRCm39)	missense	probably benign	0.00
R8971:Ctsc	UTSW	7	87,959,024 (GRCm39)	missense	probably benign	0.00
R9005:Ctsc	UTSW	7	87,927,502 (GRCm39)	missense	probably damaging	1.00
R9113:Ctsc	UTSW	7	87,959,104 (GRCm39)	missense	possibly damaging	0.93
R9131:Ctsc	UTSW	7	87,959,016 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGGTGGCTGACAATGCTAATC -3'
(R):5'- CAGTCAGTCCACATCATTTCCAG -3'

Sequencing Primer
(F):5'- TCAAAACATCATCAGCTAAACGAAG -3'
(R):5'- GTCAGTCCACATCATTTCCAGTACAG -3'

Posted On

2020-09-02