Incidental Mutation 'R1006:Ctsc'
| ID |
95751 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ctsc
|
| Ensembl Gene |
ENSMUSG00000030560 |
| Gene Name |
cathepsin C |
| Synonyms |
dipeptidylpeptidase 1, DPPI, DPP1 |
| MMRRC Submission |
039116-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R1006 (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 87959037 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 439
(R439H)
|
| 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: R439H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032779
Gene: ENSMUSG00000030560
AA Change: R439H
| 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
|
| SMART Domains |
Protein: ENSMUSP00000119503
Gene: ENSMUSG00000030560
| 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: ENSMUST00000208302
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 97.8%
- 10x: 93.4%
- 20x: 82.9%
|
| Validation Efficiency |
100% (43/43) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd8 |
A |
T |
8: 71,911,085 (GRCm39) |
I282N |
probably benign |
Het |
| Akr1c18 |
T |
C |
13: 4,186,654 (GRCm39) |
I265V |
probably benign |
Het |
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,210,706 (GRCm39) |
I1788V |
probably benign |
Het |
| Cacng7 |
T |
A |
7: 3,415,445 (GRCm39) |
I270N |
possibly damaging |
Het |
| Ccdc81 |
C |
T |
7: 89,515,769 (GRCm39) |
E637K |
probably benign |
Het |
| Cnbd2 |
A |
G |
2: 156,170,328 (GRCm39) |
I138V |
possibly damaging |
Het |
| Cntnap5b |
A |
G |
1: 100,311,342 (GRCm39) |
K983E |
probably benign |
Het |
| Col14a1 |
T |
C |
15: 55,383,331 (GRCm39) |
S1770P |
probably benign |
Het |
| Cpsf6 |
A |
T |
10: 117,201,973 (GRCm39) |
|
probably benign |
Het |
| Dcun1d1 |
A |
G |
3: 35,951,930 (GRCm39) |
|
probably benign |
Het |
| Flg2 |
A |
G |
3: 93,108,514 (GRCm39) |
I181V |
probably benign |
Het |
| Gbp2 |
A |
T |
3: 142,343,183 (GRCm39) |
S567C |
probably damaging |
Het |
| Gm5114 |
A |
G |
7: 39,058,510 (GRCm39) |
S370P |
probably damaging |
Het |
| Kcnh7 |
A |
G |
2: 62,546,527 (GRCm39) |
V1018A |
probably benign |
Het |
| Kmt2a |
G |
A |
9: 44,758,993 (GRCm39) |
A952V |
probably damaging |
Het |
| Krt1 |
C |
T |
15: 101,756,326 (GRCm39) |
E340K |
possibly damaging |
Het |
| Lim2 |
T |
A |
7: 43,084,826 (GRCm39) |
I141N |
probably damaging |
Het |
| Nlrp4a |
T |
C |
7: 26,152,892 (GRCm39) |
V654A |
probably benign |
Het |
| Or5b24 |
T |
A |
19: 12,912,638 (GRCm39) |
C179S |
probably damaging |
Het |
| Prr14l |
T |
C |
5: 32,986,826 (GRCm39) |
S890G |
probably benign |
Het |
| Psmd14 |
T |
A |
2: 61,627,726 (GRCm39) |
|
probably null |
Het |
| Ptpn13 |
A |
G |
5: 103,734,655 (GRCm39) |
D2129G |
probably benign |
Het |
| Pum1 |
C |
T |
4: 130,499,199 (GRCm39) |
T760M |
probably damaging |
Het |
| Rif1 |
A |
G |
2: 51,975,041 (GRCm39) |
I317V |
probably damaging |
Het |
| Sh3bgrl2 |
C |
T |
9: 83,459,684 (GRCm39) |
|
probably benign |
Het |
| Slfn8 |
A |
T |
11: 82,894,337 (GRCm39) |
H767Q |
possibly damaging |
Het |
| Sned1 |
G |
A |
1: 93,184,114 (GRCm39) |
G114D |
probably damaging |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Tenm3 |
A |
T |
8: 48,681,577 (GRCm39) |
D2684E |
probably damaging |
Het |
| Tet2 |
T |
C |
3: 133,182,362 (GRCm39) |
T1201A |
possibly damaging |
Het |
| Vax2 |
T |
C |
6: 83,714,759 (GRCm39) |
S225P |
probably damaging |
Het |
| Vcan |
A |
G |
13: 89,833,196 (GRCm39) |
|
probably null |
Het |
| Washc5 |
T |
A |
15: 59,241,035 (GRCm39) |
Q100L |
probably benign |
Het |
| Washc5 |
G |
T |
15: 59,241,036 (GRCm39) |
Q100K |
probably benign |
Het |
| Zc3h13 |
A |
G |
14: 75,567,989 (GRCm39) |
D1094G |
probably damaging |
Het |
| Zmiz1 |
A |
G |
14: 25,663,404 (GRCm39) |
Y1051C |
unknown |
Het |
| Zswim2 |
G |
A |
2: 83,745,737 (GRCm39) |
S567L |
probably 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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGGGCTGAGTGACCCTTTCAAC -3'
(R):5'- GGCAGGTGATGAATCTTCACACTCC -3'
Sequencing Primer
(F):5'- TCAACCCCTTCGAGCTGAC -3'
(R):5'- ACATCTGGTTGCATTGTAGATGAC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation