Incidental Mutation 'IGL01147:Ctsc'
ID |
51670 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ctsc
|
Ensembl Gene |
ENSMUSG00000030560 |
Gene Name |
cathepsin C |
Synonyms |
dipeptidylpeptidase 1, DPPI, DPP1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
IGL01147
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
87927293-87960096 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 87951479 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 242
(V242D)
|
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: V242D
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000032779 Gene: ENSMUSG00000030560 AA Change: V242D
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: V241D
PolyPhen 2
Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000119503 Gene: ENSMUSG00000030560 AA Change: V241D
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 |
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc3 |
A |
G |
11: 94,234,611 (GRCm39) |
|
probably benign |
Het |
Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
Cdh1 |
C |
A |
8: 107,387,516 (GRCm39) |
T472K |
probably damaging |
Het |
Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
Cfap57 |
A |
T |
4: 118,446,198 (GRCm39) |
V688E |
probably damaging |
Het |
Cfp |
G |
A |
X: 20,794,981 (GRCm39) |
R155C |
probably damaging |
Het |
Chst7 |
T |
C |
X: 19,926,991 (GRCm39) |
I346T |
probably damaging |
Het |
Crybg2 |
G |
A |
4: 133,816,575 (GRCm39) |
|
probably null |
Het |
Cyp27b1 |
C |
T |
10: 126,886,255 (GRCm39) |
T312I |
possibly damaging |
Het |
D6Wsu163e |
A |
G |
6: 126,921,815 (GRCm39) |
D80G |
possibly damaging |
Het |
Enpp3 |
G |
T |
10: 24,650,805 (GRCm39) |
T777K |
probably damaging |
Het |
H2-M1 |
T |
A |
17: 36,982,199 (GRCm39) |
H134L |
possibly damaging |
Het |
Heatr1 |
T |
C |
13: 12,452,793 (GRCm39) |
S2105P |
probably damaging |
Het |
Herc2 |
T |
C |
7: 55,806,697 (GRCm39) |
S2388P |
probably benign |
Het |
Igkv6-23 |
A |
G |
6: 70,237,922 (GRCm39) |
|
probably benign |
Het |
Il1rapl2 |
C |
T |
X: 137,121,325 (GRCm39) |
|
probably benign |
Het |
Itpka |
T |
C |
2: 119,573,254 (GRCm39) |
L132P |
probably benign |
Het |
Jak3 |
T |
C |
8: 72,136,047 (GRCm39) |
S616P |
probably benign |
Het |
Kcnj11 |
T |
C |
7: 45,748,193 (GRCm39) |
K377E |
probably benign |
Het |
Map4k3 |
A |
T |
17: 80,944,147 (GRCm39) |
|
probably null |
Het |
Parp1 |
T |
C |
1: 180,417,145 (GRCm39) |
I643T |
probably damaging |
Het |
Phf3 |
T |
C |
1: 30,843,250 (GRCm39) |
D1903G |
probably damaging |
Het |
Picalm |
G |
T |
7: 89,826,800 (GRCm39) |
S416I |
probably benign |
Het |
Pkn2 |
T |
C |
3: 142,534,770 (GRCm39) |
N285S |
probably benign |
Het |
Sh3gl2 |
A |
C |
4: 85,265,433 (GRCm39) |
|
probably benign |
Het |
Smpd1 |
C |
A |
7: 105,204,943 (GRCm39) |
T274K |
probably damaging |
Het |
Snap91 |
G |
A |
9: 86,680,611 (GRCm39) |
T424M |
probably benign |
Het |
Sox13 |
T |
A |
1: 133,320,873 (GRCm39) |
T46S |
probably benign |
Het |
Syne1 |
G |
A |
10: 5,002,691 (GRCm39) |
Q8075* |
probably null |
Het |
Trio |
T |
C |
15: 27,881,406 (GRCm39) |
E555G |
probably damaging |
Het |
Upf3b |
T |
C |
X: 36,360,586 (GRCm39) |
E298G |
probably damaging |
Het |
Vmn1r158 |
A |
G |
7: 22,490,204 (GRCm39) |
S2P |
probably benign |
Het |
Vmn1r6 |
T |
A |
6: 56,979,626 (GRCm39) |
L74H |
probably damaging |
Het |
Vwa2 |
T |
C |
19: 56,890,066 (GRCm39) |
S224P |
probably damaging |
Het |
Wbp1l |
T |
A |
19: 46,632,808 (GRCm39) |
V36E |
probably damaging |
Het |
Zfp367 |
A |
G |
13: 64,283,253 (GRCm39) |
S300P |
probably damaging |
Het |
|
Other mutations in Ctsc |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
|
Posted On |
2013-06-21 |