Incidental Mutation 'R4154:Ctsc'
ID |
315043 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ctsc
|
Ensembl Gene |
ENSMUSG00000030560 |
Gene Name |
cathepsin C |
Synonyms |
dipeptidylpeptidase 1, DPPI, DPP1 |
MMRRC Submission |
040998-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
R4154 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
87927293-87960096 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 87948755 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Isoleucine
at position 195
(M195I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119503
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032779]
[ENSMUST00000128791]
|
AlphaFold |
P97821 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032779
AA Change: M196I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000032779 Gene: ENSMUSG00000030560 AA Change: M196I
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: M195I
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000119503 Gene: ENSMUSG00000030560 AA Change: M195I
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
Validation Efficiency |
98% (51/52) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AI593442 |
A |
T |
9: 52,589,204 (GRCm39) |
H124Q |
probably benign |
Het |
Asph |
C |
T |
4: 9,639,250 (GRCm39) |
W38* |
probably null |
Het |
Bicdl2 |
A |
G |
17: 23,885,066 (GRCm39) |
|
probably null |
Het |
Chd8 |
T |
C |
14: 52,444,668 (GRCm39) |
|
probably benign |
Het |
Clcn4 |
T |
C |
7: 7,297,833 (GRCm39) |
N67D |
probably benign |
Het |
Cptp |
A |
G |
4: 155,951,657 (GRCm39) |
V12A |
possibly damaging |
Het |
Crim1 |
A |
G |
17: 78,545,272 (GRCm39) |
I145V |
probably benign |
Het |
Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
Fas |
T |
G |
19: 34,296,228 (GRCm39) |
I180S |
possibly damaging |
Het |
Fsip2 |
A |
C |
2: 82,817,413 (GRCm39) |
E4382A |
possibly damaging |
Het |
Galnt5 |
T |
G |
2: 57,888,505 (GRCm39) |
L35R |
probably damaging |
Het |
Gfpt2 |
G |
A |
11: 49,726,605 (GRCm39) |
|
probably null |
Het |
Gjd4 |
G |
T |
18: 9,280,811 (GRCm39) |
S89* |
probably null |
Het |
Gm14496 |
A |
T |
2: 181,636,872 (GRCm39) |
H110L |
probably benign |
Het |
Golm1 |
A |
G |
13: 59,790,167 (GRCm39) |
V211A |
probably benign |
Het |
Gsc2 |
TGCAGCAGCAGCAGCAG |
TGCAGCAGCAGCAG |
16: 17,732,666 (GRCm39) |
|
probably benign |
Het |
Ighv1-72 |
A |
T |
12: 115,722,017 (GRCm39) |
M7K |
probably benign |
Het |
Igkv12-44 |
C |
T |
6: 69,791,639 (GRCm39) |
C108Y |
possibly damaging |
Het |
Lum |
T |
C |
10: 97,404,815 (GRCm39) |
S237P |
probably damaging |
Het |
Macf1 |
T |
C |
4: 123,365,606 (GRCm39) |
K3052E |
probably damaging |
Het |
Mdn1 |
A |
G |
4: 32,707,475 (GRCm39) |
E1588G |
probably damaging |
Het |
Ndst3 |
T |
C |
3: 123,465,876 (GRCm39) |
Y32C |
probably damaging |
Het |
Nucb2 |
A |
G |
7: 116,126,902 (GRCm39) |
T172A |
probably benign |
Het |
Or52b1 |
T |
C |
7: 104,978,592 (GRCm39) |
N269S |
probably damaging |
Het |
Pard3 |
G |
T |
8: 128,200,877 (GRCm39) |
R978L |
probably damaging |
Het |
Pcdha4 |
A |
G |
18: 37,086,639 (GRCm39) |
|
probably null |
Het |
Pgk2 |
A |
G |
17: 40,519,149 (GRCm39) |
V93A |
probably damaging |
Het |
Pik3c3 |
G |
A |
18: 30,444,336 (GRCm39) |
M516I |
probably benign |
Het |
Plxnb2 |
A |
G |
15: 89,043,845 (GRCm39) |
F1336L |
probably damaging |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Sipa1l1 |
G |
C |
12: 82,471,988 (GRCm39) |
G1323R |
possibly damaging |
Het |
Sntg1 |
A |
T |
1: 8,653,569 (GRCm39) |
|
probably null |
Het |
Spef2 |
T |
C |
15: 9,626,107 (GRCm39) |
K1153R |
probably benign |
Het |
Strn3 |
C |
T |
12: 51,673,914 (GRCm39) |
V566M |
probably damaging |
Het |
Svep1 |
A |
G |
4: 58,069,068 (GRCm39) |
F2906S |
possibly damaging |
Het |
Tbc1d8 |
C |
T |
1: 39,425,216 (GRCm39) |
V545M |
probably damaging |
Het |
Tmem131 |
T |
C |
1: 36,847,874 (GRCm39) |
|
probably benign |
Het |
Tnfsf8 |
A |
G |
4: 63,752,595 (GRCm39) |
S157P |
probably benign |
Het |
Tubgcp5 |
G |
A |
7: 55,455,077 (GRCm39) |
V258M |
probably benign |
Het |
Vat1l |
G |
C |
8: 114,932,543 (GRCm39) |
G30R |
possibly damaging |
Het |
Vegfb |
T |
C |
19: 6,963,446 (GRCm39) |
Y106C |
probably damaging |
Het |
Vmn2r100 |
AAAACAGGAGTATTGATTGGAAAC |
AAAAC |
17: 19,743,681 (GRCm39) |
|
probably null |
Het |
Zc3h15 |
T |
C |
2: 83,488,913 (GRCm39) |
V161A |
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 |
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 |
2015-05-14 |