Mutagenetix > Incidental Mutation

Incidental Mutation 'R7220:Ctsc'

561734

Institutional Source

Beutler Lab

Gene Symbol

Ctsc

Ensembl Gene

ENSMUSG00000030560

Gene Name

cathepsin C

Synonyms

dipeptidylpeptidase 1, DPPI, DPP1

MMRRC Submission

045292-MU

Accession Numbers

Essential gene?

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

Stock #

R7220 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87927293-87960096 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87946361 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 130 (L130P)

Ref Sequence

ENSEMBL: ENSMUSP00000032779 (fasta)

Gene Model

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

AlphaFold

P97821

Predicted Effect

probably damaging
Transcript: ENSMUST00000032779
AA Change: L130P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032779
Gene: ENSMUSG00000030560
AA Change: L130P

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 damaging
Transcript: ENSMUST00000128791
AA Change: L129P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119503
Gene: ENSMUSG00000030560
AA Change: L129P

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: 98.7%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	A	T	15: 84,837,337 (GRCm39)	H325Q	probably damaging	Het
Aasdh	T	C	5: 77,049,772 (GRCm39)	I75V	probably benign	Het
Abca14	G	A	7: 119,826,667 (GRCm39)	D438N	possibly damaging	Het
Abca8a	T	A	11: 109,980,793 (GRCm39)	I82F	probably benign	Het
Abca8b	G	T	11: 109,872,543 (GRCm39)	N19K	probably damaging	Het
Acan	A	G	7: 78,757,896 (GRCm39)	N506S		Het
Alox12e	C	A	11: 70,206,731 (GRCm39)	R652L	probably benign	Het
Atad3a	A	G	4: 155,838,498 (GRCm39)	V173A	probably benign	Het
Atl3	A	G	19: 7,506,433 (GRCm39)	K326R	probably null	Het
Atm	G	T	9: 53,423,217 (GRCm39)	C636*	probably null	Het
Atp2c2	G	A	8: 120,472,300 (GRCm39)	M451I	probably benign	Het
Best1	A	T	19: 9,969,479 (GRCm39)	M193K	probably benign	Het
Bmper	G	T	9: 23,310,651 (GRCm39)	G362C	probably damaging	Het
Brd4	T	A	17: 32,444,557 (GRCm39)	Y139F	unknown	Het
Bzw2	A	T	12: 36,173,950 (GRCm39)	I108N	possibly damaging	Het
Cbs	C	A	17: 31,838,191 (GRCm39)	V353L	probably benign	Het
Ceacam20	A	G	7: 19,701,678 (GRCm39)	T22A	probably damaging	Het
Ckap2l	C	T	2: 129,117,436 (GRCm39)	E580K	probably damaging	Het
Ckmt1	T	C	2: 121,189,374 (GRCm39)	L15P	possibly damaging	Het
Clec18a	G	T	8: 111,808,204 (GRCm39)	P66H	probably benign	Het
Cma1	G	T	14: 56,180,120 (GRCm39)	T95K	probably benign	Het
Csmd3	A	G	15: 48,320,994 (GRCm39)	V272A	probably damaging	Het
Ctnna3	A	T	10: 64,670,368 (GRCm39)	E632D	probably benign	Het
Frmpd2	A	T	14: 33,229,432 (GRCm39)	R339S	probably damaging	Het
Frrs1	C	A	3: 116,674,425 (GRCm39)	S69*	probably null	Het
Gcc2	A	T	10: 58,116,416 (GRCm39)	E1108D	probably benign	Het
Gkn1	A	T	6: 87,326,135 (GRCm39)		probably null	Het
Gtf2a1	A	T	12: 91,534,498 (GRCm39)	M252K	probably benign	Het
H2-Ob	T	C	17: 34,460,234 (GRCm39)	F115S	probably damaging	Het
Ighv1-53	T	C	12: 115,122,135 (GRCm39)	N80S	probably benign	Het
Ighv1-67	T	C	12: 115,567,666 (GRCm39)	K82R	probably benign	Het
Ints1	A	T	5: 139,747,828 (GRCm39)	I1193N	possibly damaging	Het
Kmt2c	A	G	5: 25,549,923 (GRCm39)	F1353L	probably damaging	Het
Luc7l	C	T	17: 26,472,219 (GRCm39)		probably benign	Het
Man1a	A	C	10: 53,796,331 (GRCm39)	S454A	possibly damaging	Het
Mars2	C	A	1: 55,277,222 (GRCm39)	A275D	probably damaging	Het
Nrde2	A	G	12: 100,097,178 (GRCm39)	V874A	probably benign	Het
Ociad1	A	G	5: 73,470,809 (GRCm39)	T244A	probably benign	Het
Or10j2	A	G	1: 173,097,811 (GRCm39)	Y23C	possibly damaging	Het
Or3a10	A	T	11: 73,935,589 (GRCm39)	D170E	possibly damaging	Het
Or8c9	A	T	9: 38,241,046 (GRCm39)	L51F	probably damaging	Het
Ovca2	A	G	11: 75,069,501 (GRCm39)	C41R	possibly damaging	Het
Pacsin2	A	T	15: 83,269,260 (GRCm39)	D11E	probably damaging	Het
Pcdh15	G	A	10: 74,178,441 (GRCm39)	S566N	possibly damaging	Het
Pde3b	A	G	7: 114,135,297 (GRCm39)	I1038M	probably damaging	Het
Pi16	C	A	17: 29,538,208 (GRCm39)	P7Q	possibly damaging	Het
Pkhd1	T	A	1: 20,593,350 (GRCm39)	T1588S	possibly damaging	Het
Ppig	A	G	2: 69,580,320 (GRCm39)	D618G	unknown	Het
Pramel17	A	G	4: 101,694,565 (GRCm39)	F106S	probably benign	Het
Prorp	G	A	12: 55,351,200 (GRCm39)	V170M	possibly damaging	Het
Prss51	A	T	14: 64,333,444 (GRCm39)	K18*	probably null	Het
Ptpra	T	A	2: 130,386,417 (GRCm39)	D622E	probably damaging	Het
Ptprs	A	T	17: 56,725,988 (GRCm39)	F1431L	probably benign	Het
Pxdn	A	G	12: 30,044,479 (GRCm39)	I486V	probably benign	Het
Rnpc3	G	A	3: 113,422,004 (GRCm39)	A77V	probably benign	Het
Rtl10	T	A	16: 18,320,026 (GRCm39)	C85*	probably null	Het
Skint10	A	G	4: 112,586,170 (GRCm39)	S149P	probably benign	Het
Slc17a8	A	C	10: 89,412,275 (GRCm39)	V570G	probably benign	Het
Slc25a42	A	T	8: 70,642,148 (GRCm39)	V98E	probably damaging	Het
Smco2	A	G	6: 146,760,363 (GRCm39)	E73G	probably benign	Het
Ss18	T	C	18: 14,812,477 (GRCm39)	Y38C	probably damaging	Het
Sspo	T	A	6: 48,453,540 (GRCm39)	C2909*	probably null	Het
Tbccd1	A	G	16: 22,652,747 (GRCm39)	Y125H	probably benign	Het
Tdrd9	A	G	12: 111,980,888 (GRCm39)	T446A	probably damaging	Het
Tecta	G	T	9: 42,255,183 (GRCm39)	Q1672K	probably benign	Het
Tek	G	C	4: 94,692,541 (GRCm39)	W216C	probably damaging	Het
Timm17a	C	T	1: 135,241,313 (GRCm39)		probably null	Het
Tlr4	A	T	4: 66,758,188 (GRCm39)	H327L	probably benign	Het
Trim33	T	C	3: 103,234,109 (GRCm39)	I449T	possibly damaging	Het
Vmn1r57	A	G	7: 5,223,559 (GRCm39)	N28S	probably null	Het
Vmn2r117	T	A	17: 23,696,177 (GRCm39)	H410L	probably damaging	Het
Vmn2r16	A	G	5: 109,508,772 (GRCm39)	E500G	probably damaging	Het
Wif1	A	G	10: 120,926,019 (GRCm39)	N245S	possibly 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
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
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'- GGCCACAATGCATCTTTAGGG -3'
(R):5'- AGTCCACATCATTTCCAGTACAG -3'

Sequencing Primer
(F):5'- TGCATCTTTAGGGTAAATAGGAGCC -3'
(R):5'- GCTACATTCAATTTACATAACACAGC -3'

Posted On

2019-06-26