Mutagenetix > Incidental Mutation

Incidental Mutation 'R1808:Ctsc'

203600

Institutional Source

Beutler Lab

Gene Symbol

Ctsc

Ensembl Gene

ENSMUSG00000030560

Gene Name

cathepsin C

Synonyms

dipeptidylpeptidase 1, DPPI, DPP1

MMRRC Submission

039837-MU

Accession Numbers

Essential gene?

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

Stock #

R1808 (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 87948750 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamine at position 195 (K195Q)

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: K195Q

PolyPhen 2 Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000032779
Gene: ENSMUSG00000030560
AA Change: K195Q

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: K194Q

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000119503
Gene: ENSMUSG00000030560
AA Change: K194Q

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: ENSMUST00000152834

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.1%
20x: 91.9%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	G	T	5: 146,121,691 (GRCm39)	Y69*	probably null	Het
2310011J03Rik	A	G	10: 80,156,015 (GRCm39)		probably null	Het
A2ml1	A	C	6: 128,520,262 (GRCm39)	D1367E	probably damaging	Het
Adam6a	C	G	12: 113,508,334 (GRCm39)	L236V	probably benign	Het
Arf3	T	C	15: 98,638,954 (GRCm39)	N101S	probably benign	Het
Arhgap42	T	C	9: 9,180,051 (GRCm39)	E76G	probably damaging	Het
Atp2a1	A	G	7: 126,052,573 (GRCm39)	F382S	probably damaging	Het
Bud13	T	A	9: 46,199,705 (GRCm39)	F355L	probably benign	Het
C2	G	A	17: 35,083,508 (GRCm39)	P349S	probably damaging	Het
Cbl	C	A	9: 44,075,526 (GRCm39)	G373V	probably damaging	Het
Ccdc3	T	A	2: 5,142,896 (GRCm39)	L51Q	probably damaging	Het
Ccdc34	T	A	2: 109,874,601 (GRCm39)	M320K	probably benign	Het
Cntln	A	G	4: 85,015,000 (GRCm39)	E1097G	probably damaging	Het
Ctsf	C	T	19: 4,906,562 (GRCm39)	P163L	probably benign	Het
Dcxr	A	T	11: 120,616,438 (GRCm39)		probably null	Het
Dgki	T	C	6: 37,126,509 (GRCm39)	E157G	possibly damaging	Het
Dnah8	T	C	17: 30,903,160 (GRCm39)	L933P	probably damaging	Het
Dtna	T	C	18: 23,702,697 (GRCm39)	L76P	probably damaging	Het
Fcgbp	T	A	7: 27,784,515 (GRCm39)	C192S	probably benign	Het
Galnt5	T	A	2: 57,916,137 (GRCm39)	D683E	probably benign	Het
Greb1l	G	A	18: 10,542,143 (GRCm39)	A1297T	probably benign	Het
Grik4	T	C	9: 42,540,322 (GRCm39)	N286S	probably benign	Het
Hrc	A	T	7: 44,986,202 (GRCm39)	E451V	probably damaging	Het
Hrh3	G	A	2: 179,741,577 (GRCm39)		probably benign	Het
Ints13	A	G	6: 146,455,695 (GRCm39)	I152T	probably damaging	Het
Irgm1	A	T	11: 48,757,259 (GRCm39)	V184D	probably damaging	Het
Itga5	C	T	15: 103,258,826 (GRCm39)	A791T	probably damaging	Het
Kcp	T	C	6: 29,505,654 (GRCm39)	T73A	probably benign	Het
Kidins220	A	G	12: 25,053,008 (GRCm39)	T433A	probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Kmt2d	T	C	15: 98,764,567 (GRCm39)	D12G	probably damaging	Het
Mms19	A	G	19: 41,954,698 (GRCm39)	S74P	probably damaging	Het
Myh1	G	T	11: 67,102,300 (GRCm39)	E864*	probably null	Het
Nek1	A	G	8: 61,469,264 (GRCm39)	D107G	probably damaging	Het
Npc1	T	C	18: 12,327,149 (GRCm39)	N1149D	probably damaging	Het
Or14j6	T	A	17: 38,214,661 (GRCm39)	S75T	probably damaging	Het
Or3a1b	C	A	11: 74,012,257 (GRCm39)	S47R	probably damaging	Het
Or4k36	T	C	2: 111,146,343 (GRCm39)	V173A	probably benign	Het
Or5p79	A	C	7: 108,221,817 (GRCm39)	K266T	possibly damaging	Het
Osbp	T	C	19: 11,948,142 (GRCm39)	S150P	probably damaging	Het
Paf1	T	C	7: 28,096,247 (GRCm39)	Y287H	probably damaging	Het
Pdgfrb	T	C	18: 61,201,174 (GRCm39)	V420A	probably benign	Het
Pdss1	G	T	2: 22,796,846 (GRCm39)	E120*	probably null	Het
Pink1	A	T	4: 138,044,630 (GRCm39)	V339E	probably damaging	Het
Pkn3	C	T	2: 29,969,663 (GRCm39)	R58C	probably damaging	Het
Pm20d1	G	A	1: 131,730,165 (GRCm39)	V235I	probably benign	Het
Ppp2r2a	A	G	14: 67,276,412 (GRCm39)	I31T	probably damaging	Het
Rbms3	T	C	9: 116,651,894 (GRCm39)	E152G	probably damaging	Het
Rfx1	A	C	8: 84,821,677 (GRCm39)	Q804H	probably damaging	Het
Rpe	G	T	1: 66,754,356 (GRCm39)	V143L	probably benign	Het
Sap30l	G	T	11: 57,700,771 (GRCm39)	V142L	probably benign	Het
Sh3tc1	T	C	5: 35,863,268 (GRCm39)	Q973R	probably benign	Het
Slc10a2	T	C	8: 5,154,856 (GRCm39)	T110A	probably damaging	Het
Snrnp200	A	T	2: 127,060,947 (GRCm39)		probably null	Het
Snrnp200	G	A	2: 127,060,948 (GRCm39)		probably null	Het
Spaca3	T	A	11: 80,758,511 (GRCm39)	V158E	probably damaging	Het
Sprtn	C	A	8: 125,629,770 (GRCm39)	N354K	probably benign	Het
Stab1	T	A	14: 30,863,101 (GRCm39)	Y2166F	possibly damaging	Het
Tmem106c	G	A	15: 97,866,548 (GRCm39)		probably null	Het
Tnc	A	G	4: 63,918,168 (GRCm39)	S1248P	probably damaging	Het
Tshr	T	C	12: 91,504,090 (GRCm39)	F343L	probably benign	Het
Ttn	C	A	2: 76,555,698 (GRCm39)	A30436S	probably damaging	Het
Ubxn2a	A	T	12: 4,935,839 (GRCm39)	M68K	probably benign	Het
Ucp2	T	C	7: 100,148,021 (GRCm39)	V238A	probably damaging	Het
Urgcp	C	A	11: 5,667,242 (GRCm39)	L365F	probably damaging	Het
Vezt	A	T	10: 93,826,026 (GRCm39)	D328E	probably damaging	Het
Vmn1r168	G	T	7: 23,240,184 (GRCm39)	V14L	probably benign	Het
Vps13b	T	C	15: 35,792,205 (GRCm39)	F2158L	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
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'- CAAAGGGTGCGTATCAGTTTTATTG -3'
(R):5'- GGATGAACAGGCTGTGAACC -3'

Sequencing Primer
(F):5'- TGCGTATCAGTTTTATTGAAGGC -3'
(R):5'- CCCCAAAATATGACTTGGACAGTATG -3'

Posted On

2014-06-23