Incidental Mutation 'R6396:Ctsb'
| ID |
516018 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ctsb
|
| Ensembl Gene |
ENSMUSG00000021939 |
| Gene Name |
cathepsin B |
| Synonyms |
CB |
| MMRRC Submission |
044544-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.499)
|
| Stock # |
R6396 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
63359911-63383372 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 63375550 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 172
(V172A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006235
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006235]
|
| AlphaFold |
P10605 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006235
AA Change: V172A
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000006235
Gene: ENSMUSG00000021939
AA Change: V172A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Pfam:Propeptide_C1
|
26 |
65 |
5.4e-22 |
PFAM |
|
Pept_C1
|
80 |
329 |
1.12e-97 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225540
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 97.9%
|
| Validation Efficiency |
100% (36/36) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the peptidase C1 family and preproprotein that is proteolytically processed to generate multiple protein products. These products include the cathepsin B light and heavy chains, which can dimerize to generate the double chain form of the enzyme. This enzyme is a lysosomal cysteine protease with both endopeptidase and exopeptidase activity that may play a role in protein turnover. Homozygous knockout mice for this gene exhibit reduced pancreatic damage following induced pancreatitis and reduced hepatocyte apoptosis in a model of liver injury. Pseudogenes of this gene have been identified in the genome. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygotes for targeted null mutations are born normal without gross abnormalities. Homozygous mutant has resistance to induced pancreatitis. In combination with Ctsltm1Cptr, double homozygous mutant shows postnatal lethality due to wide neuronal degeneration in brain. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap35 |
A |
T |
7: 16,296,224 (GRCm39) |
I947K |
probably damaging |
Het |
| B3galnt2 |
A |
T |
13: 14,170,333 (GRCm39) |
I447F |
probably damaging |
Het |
| Cacna2d3 |
C |
A |
14: 29,118,522 (GRCm39) |
V134L |
probably benign |
Het |
| Clcn4 |
C |
T |
7: 7,297,024 (GRCm39) |
G145S |
probably damaging |
Het |
| Cndp1 |
A |
T |
18: 84,650,135 (GRCm39) |
M186K |
probably benign |
Het |
| Cntn6 |
A |
G |
6: 104,627,461 (GRCm39) |
Y98C |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Dyrk1a |
C |
A |
16: 94,472,299 (GRCm39) |
Q230K |
probably damaging |
Het |
| Ech1 |
C |
T |
7: 28,529,763 (GRCm39) |
|
probably null |
Het |
| Fam81b |
T |
A |
13: 76,399,968 (GRCm39) |
R97W |
probably damaging |
Het |
| Heatr1 |
A |
G |
13: 12,420,978 (GRCm39) |
E423G |
possibly damaging |
Het |
| Hydin |
A |
T |
8: 111,233,521 (GRCm39) |
K1786N |
probably damaging |
Het |
| Igf2r |
T |
C |
17: 12,932,977 (GRCm39) |
I848M |
probably benign |
Het |
| Igkv10-96 |
G |
A |
6: 68,608,969 (GRCm39) |
Q109* |
probably null |
Het |
| Mup6 |
T |
C |
4: 60,004,837 (GRCm39) |
I76T |
possibly damaging |
Het |
| Nmt2 |
A |
G |
2: 3,315,738 (GRCm39) |
R243G |
probably benign |
Het |
| Nsd1 |
G |
A |
13: 55,386,602 (GRCm39) |
G119D |
probably damaging |
Het |
| Or1ad8 |
A |
G |
11: 50,898,312 (GRCm39) |
H171R |
possibly damaging |
Het |
| Or4c113 |
A |
G |
2: 88,885,641 (GRCm39) |
I43T |
probably benign |
Het |
| Or4c120 |
T |
G |
2: 89,001,034 (GRCm39) |
D174A |
probably damaging |
Het |
| Or51ab3 |
C |
T |
7: 103,201,888 (GRCm39) |
Q299* |
probably null |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pank3 |
T |
C |
11: 35,669,516 (GRCm39) |
V250A |
probably damaging |
Het |
| Pcdh10 |
A |
G |
3: 45,334,495 (GRCm39) |
I270V |
possibly damaging |
Het |
| Pnp2 |
T |
A |
14: 51,200,616 (GRCm39) |
V94E |
probably damaging |
Het |
| Prdm10 |
T |
C |
9: 31,229,842 (GRCm39) |
V86A |
possibly damaging |
Het |
| Resf1 |
A |
G |
6: 149,229,417 (GRCm39) |
D821G |
probably damaging |
Het |
| Riox1 |
G |
A |
12: 83,998,087 (GRCm39) |
D208N |
possibly damaging |
Het |
| Rrp15 |
A |
G |
1: 186,469,783 (GRCm39) |
|
probably null |
Het |
| Skor1 |
G |
T |
9: 63,052,232 (GRCm39) |
P579Q |
probably damaging |
Het |
| Slc44a4 |
T |
A |
17: 35,147,860 (GRCm39) |
Y481* |
probably null |
Het |
| Smg7 |
A |
T |
1: 152,724,351 (GRCm39) |
V610E |
probably benign |
Het |
| Tlx1 |
A |
G |
19: 45,144,491 (GRCm39) |
Q71R |
probably damaging |
Het |
| Vmn2r27 |
A |
T |
6: 124,201,125 (GRCm39) |
Y277* |
probably null |
Het |
| Zswim2 |
T |
A |
2: 83,754,062 (GRCm39) |
R199S |
probably damaging |
Het |
|
| Other mutations in Ctsb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00835:Ctsb
|
APN |
14 |
63,373,099 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02565:Ctsb
|
APN |
14 |
63,375,859 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL03011:Ctsb
|
APN |
14 |
63,370,806 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0001:Ctsb
|
UTSW |
14 |
63,373,071 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1226:Ctsb
|
UTSW |
14 |
63,379,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1241:Ctsb
|
UTSW |
14 |
63,376,553 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1533:Ctsb
|
UTSW |
14 |
63,376,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4179:Ctsb
|
UTSW |
14 |
63,370,901 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6042:Ctsb
|
UTSW |
14 |
63,379,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7422:Ctsb
|
UTSW |
14 |
63,379,752 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7472:Ctsb
|
UTSW |
14 |
63,375,550 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7573:Ctsb
|
UTSW |
14 |
63,375,550 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7721:Ctsb
|
UTSW |
14 |
63,370,765 (GRCm39) |
splice site |
probably benign |
|
|
R8498:Ctsb
|
UTSW |
14 |
63,370,881 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9184:Ctsb
|
UTSW |
14 |
63,375,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9229:Ctsb
|
UTSW |
14 |
63,373,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9287:Ctsb
|
UTSW |
14 |
63,370,875 (GRCm39) |
missense |
probably benign |
0.41 |
|
R9472:Ctsb
|
UTSW |
14 |
63,379,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9665:Ctsb
|
UTSW |
14 |
63,370,917 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGACAGTATATTCCCAGGGGAC -3'
(R):5'- TAATGTCAGCTTGCAACCCC -3'
Sequencing Primer
(F):5'- GGACCTTGGCATTTGTACCG -3'
(R):5'- AGACCATGTCTACATCCTGTGGG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation