Incidental Mutation 'R8392:Ctsc'
| ID |
647421 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ctsc
|
| Ensembl Gene |
ENSMUSG00000030560 |
| Gene Name |
cathepsin C |
| Synonyms |
dipeptidylpeptidase 1, DPPI, DPP1 |
| MMRRC Submission |
067757-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R8392 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
87927293-87960096 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 87946451 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 160
(Q160L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032779
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032779]
[ENSMUST00000128791]
|
| AlphaFold |
P97821 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032779
AA Change: Q160L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000032779
Gene: ENSMUSG00000030560
AA Change: Q160L
| 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: Q159L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000119503
Gene: ENSMUSG00000030560
AA Change: Q159L
| 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: 99.5%
- 20x: 98.3%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl3 |
G |
A |
5: 81,794,397 (GRCm39) |
A473T |
probably benign |
Het |
| Ano2 |
T |
A |
6: 125,857,698 (GRCm39) |
N512K |
probably benign |
Het |
| Arhgap18 |
A |
T |
10: 26,721,936 (GRCm39) |
Y41F |
probably benign |
Het |
| Baz1a |
T |
A |
12: 54,969,908 (GRCm39) |
D584V |
probably damaging |
Het |
| Ccl2 |
A |
T |
11: 81,927,808 (GRCm39) |
Q84L |
probably damaging |
Het |
| Cdv3 |
T |
A |
9: 103,232,474 (GRCm39) |
H245L |
probably benign |
Het |
| Cfap54 |
T |
G |
10: 92,798,279 (GRCm39) |
K1660T |
unknown |
Het |
| Col4a1 |
T |
A |
8: 11,258,333 (GRCm39) |
|
probably null |
Het |
| Cpeb3 |
TTGCTGCTGCTGCTGCTGCTGCCGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCCGCTGCTGCTGCTG |
19: 37,152,291 (GRCm39) |
|
probably benign |
Het |
| Crebbp |
G |
A |
16: 3,902,145 (GRCm39) |
R2365W |
possibly damaging |
Het |
| Crppa |
T |
A |
12: 36,440,497 (GRCm39) |
L135Q |
probably damaging |
Het |
| Cyp4a10 |
C |
T |
4: 115,386,675 (GRCm39) |
R441* |
probably null |
Het |
| Cyp8b1 |
T |
C |
9: 121,744,300 (GRCm39) |
E344G |
probably damaging |
Het |
| Dnah12 |
T |
C |
14: 26,607,869 (GRCm39) |
F3801L |
probably benign |
Het |
| Dnhd1 |
A |
G |
7: 105,352,550 (GRCm39) |
R2568G |
possibly damaging |
Het |
| Erbin |
T |
A |
13: 103,970,570 (GRCm39) |
E1015D |
probably damaging |
Het |
| Filip1l |
A |
G |
16: 57,391,716 (GRCm39) |
E768G |
probably damaging |
Het |
| H2ac13 |
C |
T |
13: 21,900,656 (GRCm39) |
A22V |
unknown |
Het |
| Ildr1 |
G |
A |
16: 36,542,720 (GRCm39) |
W417* |
probably null |
Het |
| Ildr1 |
G |
T |
16: 36,542,721 (GRCm39) |
D418Y |
probably damaging |
Het |
| Kdsr |
A |
T |
1: 106,671,583 (GRCm39) |
M142K |
probably damaging |
Het |
| Kidins220 |
T |
A |
12: 25,040,727 (GRCm39) |
V111E |
probably damaging |
Het |
| Ly75 |
T |
C |
2: 60,180,284 (GRCm39) |
E631G |
probably benign |
Het |
| Muc13 |
G |
A |
16: 33,619,789 (GRCm39) |
G179D |
unknown |
Het |
| Nebl |
T |
A |
2: 17,457,363 (GRCm39) |
T66S |
probably benign |
Het |
| Npsr1 |
T |
A |
9: 24,221,377 (GRCm39) |
I277N |
possibly damaging |
Het |
| Or1j20 |
T |
G |
2: 36,760,352 (GRCm39) |
I258S |
probably damaging |
Het |
| Or6c213 |
T |
A |
10: 129,573,910 (GRCm39) |
N292I |
probably damaging |
Het |
| Pcdha11 |
T |
A |
18: 37,139,212 (GRCm39) |
Y280* |
probably null |
Het |
| Pitrm1 |
T |
C |
13: 6,599,696 (GRCm39) |
I46T |
probably benign |
Het |
| Plxnc1 |
A |
G |
10: 94,637,352 (GRCm39) |
V1308A |
possibly damaging |
Het |
| Ppp1r9a |
T |
C |
6: 5,143,491 (GRCm39) |
|
probably null |
Het |
| Ptgdr |
A |
G |
14: 45,096,379 (GRCm39) |
M111T |
probably damaging |
Het |
| Rab3gap1 |
A |
G |
1: 127,866,370 (GRCm39) |
K850R |
probably benign |
Het |
| Rsf1 |
G |
GACGGCGGCC |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Smtnl2 |
T |
A |
11: 72,293,993 (GRCm39) |
M188L |
probably benign |
Het |
| Snip1 |
G |
A |
4: 124,960,618 (GRCm39) |
V25M |
probably damaging |
Het |
| Spock3 |
A |
C |
8: 63,808,345 (GRCm39) |
D411A |
unknown |
Het |
| Sptbn4 |
C |
T |
7: 27,071,721 (GRCm39) |
R1581H |
probably damaging |
Het |
| Stard13 |
A |
G |
5: 150,965,627 (GRCm39) |
S1080P |
probably benign |
Het |
| Svep1 |
A |
T |
4: 58,070,566 (GRCm39) |
C2407S |
possibly damaging |
Het |
| Tanc1 |
T |
C |
2: 59,636,651 (GRCm39) |
S845P |
probably damaging |
Het |
| Tnfsf13 |
T |
C |
11: 69,574,688 (GRCm39) |
Y202C |
probably damaging |
Het |
| Top1 |
T |
A |
2: 160,559,374 (GRCm39) |
C632* |
probably null |
Het |
| Tsr1 |
C |
A |
11: 74,791,096 (GRCm39) |
T225K |
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 |
|
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 |
|
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'- TCTTTAGGGTAAATAGGAGCCGAG -3'
(R):5'- GTCAATTCAGTCAGTCCACATC -3'
Sequencing Primer
(F):5'- GCCGAGCACAGTTGTAATTG -3'
(R):5'- GTCAGTCCACATCATTTCCAGTACAG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation