Mutagenetix > Incidental Mutation

Incidental Mutation 'R1472:Ctsc'

164996

Institutional Source

Beutler Lab

Gene Symbol

Ctsc

Ensembl Gene

ENSMUSG00000030560

Gene Name

cathepsin C

Synonyms

dipeptidylpeptidase 1, DPPI, DPP1

MMRRC Submission

039525-MU

Accession Numbers

Essential gene?

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

Stock #

R1472 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87927293-87960096 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 87930670 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 83 (H83P)

Ref Sequence

ENSEMBL: ENSMUSP00000147006 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032779] [ENSMUST00000128791] [ENSMUST00000131108]

AlphaFold

P97821

Predicted Effect

probably benign
Transcript: ENSMUST00000032779
AA Change: H83P

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000032779
Gene: ENSMUSG00000030560
AA Change: H83P

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

possibly damaging
Transcript: ENSMUST00000128791
AA Change: H82P

PolyPhen 2 Score 0.506 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000119503
Gene: ENSMUSG00000030560
AA Change: H82P

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

possibly damaging
Transcript: ENSMUST00000131108
AA Change: H83P

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139159

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181565

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 92.0%

Validation Efficiency

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 137,773,313 (GRCm39)	T834M	possibly damaging	Het
Ak1	T	C	2: 32,520,313 (GRCm39)	L32P	probably damaging	Het
Ankrd24	A	G	10: 81,470,754 (GRCm39)	D61G	probably damaging	Het
Atp13a2	T	C	4: 140,721,113 (GRCm39)	S99P	probably damaging	Het
Atp8a2	T	C	14: 60,097,719 (GRCm39)	K770E	probably benign	Het
Bmp10	A	G	6: 87,410,779 (GRCm39)	I191V	probably benign	Het
C2cd6	A	T	1: 59,106,944 (GRCm39)	S294T	possibly damaging	Het
C4b	T	A	17: 34,962,743 (GRCm39)	K20*	probably null	Het
Caps2	C	T	10: 112,015,377 (GRCm39)	T139I	probably benign	Het
Cdc25a	T	C	9: 109,705,157 (GRCm39)	S34P	probably benign	Het
Cenpv	T	C	11: 62,427,121 (GRCm39)	I146V	probably benign	Het
Cep57	A	T	9: 13,732,850 (GRCm39)	F32I	probably benign	Het
Cep85	A	G	4: 133,894,711 (GRCm39)	W32R	probably damaging	Het
Cntrl	T	C	2: 35,059,329 (GRCm39)		probably null	Het
Cpd	A	G	11: 76,675,224 (GRCm39)	V1299A	probably damaging	Het
Cpne6	T	C	14: 55,752,092 (GRCm39)	V283A	probably benign	Het
Crot	A	G	5: 9,016,941 (GRCm39)	C584R	probably damaging	Het
Dido1	T	C	2: 180,302,513 (GRCm39)	N1797S	probably benign	Het
Dlgap4	C	T	2: 156,602,821 (GRCm39)	Q148*	probably null	Het
Dnah3	T	C	7: 119,670,181 (GRCm39)	D688G	probably benign	Het
Dnmt1	T	C	9: 20,843,472 (GRCm39)	E138G	probably benign	Het
Edc4	T	A	8: 106,619,460 (GRCm39)	M1396K	probably damaging	Het
Haao	T	A	17: 84,146,267 (GRCm39)	Q69L	probably benign	Het
Hsd3b6	A	T	3: 98,715,255 (GRCm39)		probably null	Het
Itpr3	T	A	17: 27,333,199 (GRCm39)	I1937N	probably benign	Het
Kcnk15	C	A	2: 163,700,127 (GRCm39)	T103K	probably damaging	Het
Kifc3	A	G	8: 95,864,541 (GRCm39)		probably null	Het
Lama3	T	A	18: 12,615,102 (GRCm39)	F1342Y	probably benign	Het
Lilra6	A	T	7: 3,915,718 (GRCm39)	M98K	probably damaging	Het
Map3k21	T	C	8: 126,668,417 (GRCm39)	S668P	probably benign	Het
Mcpt8	T	C	14: 56,319,791 (GRCm39)	T220A	probably benign	Het
Mettl13	C	T	1: 162,364,736 (GRCm39)	V548I	possibly damaging	Het
Mfsd4b4	A	G	10: 39,767,860 (GRCm39)	M411T	probably benign	Het
Mrfap1	A	G	5: 36,953,817 (GRCm39)	S41P	possibly damaging	Het
Mroh2b	A	G	15: 4,978,137 (GRCm39)	I1302V	probably benign	Het
Mrpl45	C	T	11: 97,214,681 (GRCm39)	R123*	probably null	Het
Mstn	T	A	1: 53,101,157 (GRCm39)	I78K	probably damaging	Het
Mtdh	T	C	15: 34,114,191 (GRCm39)	S168P	possibly damaging	Het
Muc15	G	T	2: 110,561,905 (GRCm39)	V114F	probably damaging	Het
Muc6	T	C	7: 141,238,144 (GRCm39)	E112G	probably benign	Het
Myocd	G	T	11: 65,078,330 (GRCm39)	H360Q	probably benign	Het
Naip2	C	T	13: 100,298,368 (GRCm39)	G556D	probably benign	Het
Nav3	T	C	10: 109,563,802 (GRCm39)	E1627G	probably damaging	Het
Nlrp14	T	C	7: 106,781,910 (GRCm39)	L369P	probably benign	Het
Nlrp6	A	G	7: 140,503,408 (GRCm39)	T505A	probably damaging	Het
Npbwr1	T	C	1: 5,986,900 (GRCm39)	S205G	probably damaging	Het
Nsmaf	G	A	4: 6,423,448 (GRCm39)	R307*	probably null	Het
Or5h19	A	T	16: 58,856,920 (GRCm39)	L60Q	probably damaging	Het
Or9i1b	T	C	19: 13,897,208 (GRCm39)	S275P	probably damaging	Het
Parp9	T	G	16: 35,774,050 (GRCm39)	S341A	possibly damaging	Het
Pdss2	A	G	10: 43,289,533 (GRCm39)	N346S	probably benign	Het
Pikfyve	T	A	1: 65,263,360 (GRCm39)	F503Y	probably damaging	Het
Polr1e	G	T	4: 45,028,026 (GRCm39)	A290S	probably damaging	Het
Ppp1r21	A	T	17: 88,866,033 (GRCm39)	H305L	probably damaging	Het
Prss47	A	G	13: 65,197,103 (GRCm39)	L117P	probably damaging	Het
Psmb2	A	G	4: 126,580,825 (GRCm39)	Y73C	probably damaging	Het
Rcn2	C	T	9: 55,963,537 (GRCm39)	P222L	probably benign	Het
Rnf144b	T	C	13: 47,396,361 (GRCm39)	Y233H	probably damaging	Het
Rnf17	T	C	14: 56,665,436 (GRCm39)	L196P	probably damaging	Het
Sik2	A	G	9: 50,920,111 (GRCm39)	I22T	probably damaging	Het
Sis	A	G	3: 72,796,360 (GRCm39)	V1807A	probably benign	Het
Slc1a2	T	A	2: 102,568,254 (GRCm39)	I88N	probably damaging	Het
Slc22a22	A	G	15: 57,110,916 (GRCm39)	F437S	probably benign	Het
Slc39a13	A	T	2: 90,899,050 (GRCm39)	C20*	probably null	Het
Sos2	C	T	12: 69,632,090 (GRCm39)		probably null	Het
Sst	A	G	16: 23,709,448 (GRCm39)	V16A	probably benign	Het
Stab1	C	T	14: 30,863,543 (GRCm39)	G2073D	probably benign	Het
Stxbp1	A	T	2: 32,684,648 (GRCm39)	S594T	probably benign	Het
Sugct	A	T	13: 17,627,131 (GRCm39)	C241S	probably benign	Het
Svil	T	A	18: 5,048,950 (GRCm39)	C76S	probably benign	Het
Tcaf1	A	G	6: 42,663,382 (GRCm39)	V166A	possibly damaging	Het
Tmem131	A	T	1: 36,855,322 (GRCm39)	N801K	possibly damaging	Het
Tox3	T	C	8: 90,980,973 (GRCm39)	N277S	probably damaging	Het
Tril	G	T	6: 53,795,012 (GRCm39)	R737S	probably damaging	Het
Trpm2	C	A	10: 77,801,841 (GRCm39)	V75L	probably damaging	Het
Tshz1	A	C	18: 84,031,930 (GRCm39)	L826R	possibly damaging	Het
Ttn	C	T	2: 76,597,196 (GRCm39)	V19906I	probably damaging	Het
Wnt5a	C	T	14: 28,240,461 (GRCm39)	R184*	probably null	Het
Wnt5b	G	A	6: 119,410,442 (GRCm39)	R333C	probably damaging	Het
Zbtb6	T	C	2: 37,319,356 (GRCm39)	T191A	probably benign	Het
Zc3h4	A	G	7: 16,168,695 (GRCm39)	N935D	unknown	Het
Zc3h7a	C	T	16: 10,978,890 (GRCm39)	R95H	probably damaging	Het
Zfp110	T	C	7: 12,582,468 (GRCm39)	V372A	possibly damaging	Het
Zmym2	C	T	14: 57,148,640 (GRCm39)	S318L	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
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
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'- TTCTTCACAGACTTGCCAGGAGCC -3'
(R):5'- CTTGGTGTAAAAGGAGCACTCCCG -3'

Sequencing Primer
(F):5'- agaggtaaggggatggagg -3'
(R):5'- ACTCCCGAGGTTCCTAATCAGG -3'

Posted On

2014-03-28