Mutagenetix > Incidental Mutation

Incidental Mutation 'R3848:Ctsc'

275757

Institutional Source

Beutler Lab

Gene Symbol

Ctsc

Ensembl Gene

ENSMUSG00000030560

Gene Name

cathepsin C

Synonyms

dipeptidylpeptidase 1, DPPI, DPP1

MMRRC Submission

040896-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R3848 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87927293-87960096 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87958818 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 366 (H366R)

Ref Sequence

ENSEMBL: ENSMUSP00000032779 (fasta)

Gene Model

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

AlphaFold

P97821

Predicted Effect

probably benign
Transcript: ENSMUST00000032779
AA Change: H366R

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000032779
Gene: ENSMUSG00000030560
AA Change: H366R

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

SMART Domains

Protein: ENSMUSP00000119503
Gene: ENSMUSG00000030560

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208302

Meta Mutation Damage Score

0.1814

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 95.8%

Validation Efficiency

100% (62/62)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	A	T	4: 86,336,783 (GRCm39)	Q1564L	probably damaging	Het
Adgrv1	A	G	13: 81,588,191 (GRCm39)	V4465A	probably damaging	Het
Als2cl	A	G	9: 110,718,377 (GRCm39)		probably benign	Het
Anxa2	G	T	9: 69,374,624 (GRCm39)	D34Y	probably damaging	Het
Asic1	A	G	15: 99,570,814 (GRCm39)	N143S	probably benign	Het
Catsperb	A	C	12: 101,475,585 (GRCm39)	Q376H	probably damaging	Het
Cd72	T	C	4: 43,452,525 (GRCm39)	E132G	possibly damaging	Het
Cdh16	T	C	8: 105,344,473 (GRCm39)	D22G	possibly damaging	Het
Cep170	G	A	1: 176,583,409 (GRCm39)	A990V	probably benign	Het
Col15a1	T	C	4: 47,289,374 (GRCm39)	V48A	possibly damaging	Het
Col3a1	C	A	1: 45,361,150 (GRCm39)	P112T	unknown	Het
Cpeb2	T	G	5: 43,394,788 (GRCm39)	S64A	probably damaging	Het
Cplx3	G	A	9: 57,515,600 (GRCm39)	A425V	possibly damaging	Het
Cul5	T	G	9: 53,529,286 (GRCm39)	M800L	probably benign	Het
Dst	C	T	1: 34,251,400 (GRCm39)	S4165F	probably damaging	Het
Efhb	A	T	17: 53,734,024 (GRCm39)		probably benign	Het
Fat4	T	A	3: 39,061,410 (GRCm39)	V4331D	probably benign	Het
Fbxl8	T	C	8: 105,993,781 (GRCm39)	S46P	probably benign	Het
Fbxo38	G	A	18: 62,648,144 (GRCm39)	S798F	possibly damaging	Het
Fggy	T	C	4: 95,489,361 (GRCm39)		probably benign	Het
Foxp4	A	G	17: 48,186,453 (GRCm39)	I442T	unknown	Het
Gm13941	T	C	2: 110,935,198 (GRCm39)	M11V	unknown	Het
Hoxd8	A	G	2: 74,535,929 (GRCm39)	Y13C	possibly damaging	Het
Hsf4	T	C	8: 105,997,469 (GRCm39)	F101L	probably damaging	Het
Jph2	G	A	2: 163,181,332 (GRCm39)	P611S	probably benign	Het
Kifbp	A	G	10: 62,405,249 (GRCm39)	Y64H	probably damaging	Het
Kndc1	T	C	7: 139,488,893 (GRCm39)	S183P	probably damaging	Het
L3mbtl1	A	G	2: 162,790,121 (GRCm39)	E132G	probably damaging	Het
Lmo7	A	G	14: 102,159,531 (GRCm39)		probably null	Het
Lrpprc	T	C	17: 85,078,355 (GRCm39)	I308V	probably benign	Het
Mei1	T	C	15: 81,997,218 (GRCm39)		probably benign	Het
Mki67	A	C	7: 135,297,859 (GRCm39)	S2392A	probably benign	Het
Naip2	A	T	13: 100,315,940 (GRCm39)	L280Q	probably damaging	Het
Naip2	G	C	13: 100,315,941 (GRCm39)	L280V	probably damaging	Het
Nek1	T	A	8: 61,525,349 (GRCm39)	F596I	probably damaging	Het
Or51v8	A	G	7: 103,319,908 (GRCm39)	V110A	probably damaging	Het
Or52e8b	A	G	7: 104,673,539 (GRCm39)	V216A	probably damaging	Het
Or8u10	A	T	2: 85,915,751 (GRCm39)	Y123*	probably null	Het
Orc2	T	C	1: 58,520,151 (GRCm39)	T225A	probably benign	Het
P2ry1	G	A	3: 60,910,880 (GRCm39)	W6*	probably null	Het
Pam	T	A	1: 97,782,481 (GRCm39)		probably benign	Het
Pigt	G	A	2: 164,340,500 (GRCm39)		probably benign	Het
Pik3c2a	A	T	7: 115,963,785 (GRCm39)	C71*	probably null	Het
Plcxd2	T	C	16: 45,792,629 (GRCm39)	T237A	probably damaging	Het
Pnrc1	T	C	4: 33,246,252 (GRCm39)	K236E	probably damaging	Het
Ppargc1b	T	A	18: 61,444,113 (GRCm39)	D350V	probably damaging	Het
Rapgef6	T	C	11: 54,582,134 (GRCm39)	S1349P	probably damaging	Het
Rnf17	T	C	14: 56,749,753 (GRCm39)	V1433A	probably damaging	Het
Sell	A	T	1: 163,893,230 (GRCm39)	K149*	probably null	Het
Sidt1	A	G	16: 44,076,322 (GRCm39)		probably benign	Het
Slc6a5	C	G	7: 49,577,306 (GRCm39)		probably benign	Het
Slc7a14	A	T	3: 31,291,623 (GRCm39)	N218K	probably damaging	Het
Spice1	C	T	16: 44,199,254 (GRCm39)	R569*	probably null	Het
Stk35	G	T	2: 129,642,656 (GRCm39)	A66S	probably benign	Het
Tmem245	A	G	4: 56,926,298 (GRCm39)		probably benign	Het
Tnxb	A	C	17: 34,909,369 (GRCm39)	R1632S	possibly damaging	Het
Ttc6	G	A	12: 57,723,932 (GRCm39)	R1020H	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Vmn2r105	A	G	17: 20,428,952 (GRCm39)	I708T	possibly damaging	Het
Vmn2r117	G	T	17: 23,679,389 (GRCm39)	H612N	probably damaging	Het
Vmn2r15	A	T	5: 109,445,312 (GRCm39)	D37E	probably benign	Het
Zbtb41	T	A	1: 139,351,734 (GRCm39)	H282Q	probably benign	Het
Zfp687	T	C	3: 94,915,225 (GRCm39)	D1092G	probably damaging	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
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
R8331:Ctsc	UTSW	7	87,946,328 (GRCm39)	missense	possibly damaging	0.53
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'- CATTGCAGGGAAGTATGCCC -3'
(R):5'- TACGGAAGTAGCCACTCTCC -3'

Sequencing Primer
(F):5'- CAGGGAAGTATGCCCAAGATTTTG -3'
(R):5'- GCCCCAGCTGTTCTTTATAATCCAG -3'

Posted On

2015-04-06