Incidental Mutation 'R2253:Casp3'
| ID |
241814 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Casp3
|
| Ensembl Gene |
ENSMUSG00000031628 |
| Gene Name |
caspase 3 |
| Synonyms |
AC-3, Apopain, Caspase-3, CPP32, Yama, A830040C14Rik, CC3, mldy |
| MMRRC Submission |
040253-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2253 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
47070326-47092724 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 47090990 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Leucine
at position 214
(W214L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147767
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093517]
[ENSMUST00000210534]
[ENSMUST00000211115]
|
| AlphaFold |
P70677 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093517
AA Change: W214L
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000091238
Gene: ENSMUSG00000031628
AA Change: W214L
| Domain | Start | End | E-Value | Type |
|---|
|
CASc
|
36 |
277 |
9.95e-143 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209668
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210534
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211115
AA Change: W214L
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a protein that belongs to a highly conserved family of cysteinyl aspartate-specific proteases that function as essential regulators of programmed cell death through apoptosis. Members of this family contain an N-terminal pro-domain and require cleavage at specific aspartate residues to become mature. The protein encoded by this gene belongs to a subgroup of cysteinyl aspartate-specific proteases that are activated by initiator caspases and that perform the proteolytic cleavage of apoptotic target proteins. Mice defective for this gene exhibit a variety of phenotypes including reduced neuronal apoptosis resulting in hyperplasias, hearing loss, attenuated osteogenic differentiation of bone marrow stromal stem cells, and pre- and post-natal lethality. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Some homozygous animals show defects in brain development by embryonic day 12, reduced neuronal apoptosis causing hyperplasias, and pre- and postnatal lethality. Other homozygous animals exhibit only hearing loss, inner ear defects and degeneration of spiral ganglion neurons. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700129C05Rik |
G |
A |
14: 59,380,061 (GRCm39) |
S79F |
probably damaging |
Het |
| Acss3 |
G |
A |
10: 106,840,609 (GRCm39) |
A384V |
probably damaging |
Het |
| Aff2 |
G |
A |
X: 68,878,409 (GRCm39) |
E732K |
possibly damaging |
Het |
| Atp12a |
A |
G |
14: 56,613,715 (GRCm39) |
T496A |
probably benign |
Het |
| B3gnt3 |
A |
T |
8: 72,145,462 (GRCm39) |
M302K |
probably damaging |
Het |
| Bptf |
G |
T |
11: 107,002,148 (GRCm39) |
D321E |
probably damaging |
Het |
| C1ql3 |
C |
T |
2: 13,015,130 (GRCm39) |
V177I |
possibly damaging |
Het |
| C2cd5 |
A |
T |
6: 142,982,042 (GRCm39) |
Y607* |
probably null |
Het |
| Cd248 |
A |
G |
19: 5,118,154 (GRCm39) |
M1V |
probably null |
Het |
| Cdh18 |
A |
G |
15: 23,410,891 (GRCm39) |
T405A |
probably benign |
Het |
| Cldn24 |
G |
T |
8: 48,275,363 (GRCm39) |
R62S |
probably benign |
Het |
| Cnot1 |
A |
G |
8: 96,489,814 (GRCm39) |
V463A |
probably benign |
Het |
| Cul2 |
A |
T |
18: 3,399,876 (GRCm39) |
L3F |
probably damaging |
Het |
| Ep400 |
A |
T |
5: 110,866,957 (GRCm39) |
N1062K |
unknown |
Het |
| Gch1 |
T |
C |
14: 47,426,798 (GRCm39) |
|
probably benign |
Het |
| Gzf1 |
T |
C |
2: 148,525,856 (GRCm39) |
M109T |
probably damaging |
Het |
| Itch |
T |
A |
2: 155,054,259 (GRCm39) |
M701K |
probably benign |
Het |
| Kank4 |
A |
T |
4: 98,667,463 (GRCm39) |
I328N |
probably damaging |
Het |
| Krt9 |
A |
T |
11: 100,081,685 (GRCm39) |
N281K |
possibly damaging |
Het |
| Lgals12 |
T |
A |
19: 7,584,130 (GRCm39) |
|
probably benign |
Het |
| Lrrc37a |
T |
C |
11: 103,392,293 (GRCm39) |
Q1044R |
probably benign |
Het |
| Mbtps2 |
A |
T |
X: 156,342,029 (GRCm39) |
F270L |
probably benign |
Het |
| Nr3c1 |
G |
T |
18: 39,619,804 (GRCm39) |
T161K |
probably benign |
Het |
| Or2w3b |
T |
C |
11: 58,623,821 (GRCm39) |
T57A |
probably benign |
Het |
| Or4g16 |
A |
G |
2: 111,136,655 (GRCm39) |
Y35C |
probably damaging |
Het |
| Or5ak20 |
A |
G |
2: 85,184,202 (GRCm39) |
S23P |
possibly damaging |
Het |
| Or5b116 |
T |
C |
19: 13,422,549 (GRCm39) |
Y58H |
probably damaging |
Het |
| Pla2g4d |
T |
C |
2: 120,101,622 (GRCm39) |
K453E |
probably damaging |
Het |
| Plcb2 |
T |
C |
2: 118,554,246 (GRCm39) |
N69S |
probably benign |
Het |
| Prl3d1 |
T |
C |
13: 27,278,981 (GRCm39) |
Y59H |
possibly damaging |
Het |
| Rnf133 |
T |
C |
6: 23,649,174 (GRCm39) |
M252V |
probably benign |
Het |
| Rnf181 |
G |
T |
6: 72,338,467 (GRCm39) |
H14N |
possibly damaging |
Het |
| Sash1 |
A |
T |
10: 8,605,741 (GRCm39) |
M883K |
probably benign |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Slc13a4 |
A |
G |
6: 35,257,418 (GRCm39) |
V240A |
probably benign |
Het |
| Slc2a5 |
T |
C |
4: 150,224,447 (GRCm39) |
Y315H |
possibly damaging |
Het |
| Slc7a2 |
T |
C |
8: 41,358,658 (GRCm39) |
Y334H |
probably benign |
Het |
| Spib |
A |
G |
7: 44,179,392 (GRCm39) |
S23P |
probably benign |
Het |
| Tbc1d1 |
A |
G |
5: 64,442,143 (GRCm39) |
N721S |
probably benign |
Het |
| Tcf25 |
A |
G |
8: 124,100,772 (GRCm39) |
E54G |
probably benign |
Het |
| Tesl2 |
G |
A |
X: 23,824,950 (GRCm39) |
A75V |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Uba7 |
A |
G |
9: 107,853,563 (GRCm39) |
H131R |
probably benign |
Het |
| Vmn2r6 |
C |
T |
3: 64,467,139 (GRCm39) |
C120Y |
probably damaging |
Het |
| Zdhhc18 |
A |
T |
4: 133,360,388 (GRCm39) |
|
probably null |
Het |
| Zfp970 |
T |
A |
2: 177,166,614 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Casp3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01753:Casp3
|
APN |
8 |
47,082,776 (GRCm39) |
utr 5 prime |
probably benign |
|
|
warner
|
UTSW |
8 |
47,088,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0601:Casp3
|
UTSW |
8 |
47,089,262 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1541:Casp3
|
UTSW |
8 |
47,087,369 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1648:Casp3
|
UTSW |
8 |
47,091,109 (GRCm39) |
missense |
probably benign |
|
|
R2046:Casp3
|
UTSW |
8 |
47,082,761 (GRCm39) |
splice site |
probably benign |
|
|
R2159:Casp3
|
UTSW |
8 |
47,087,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2176:Casp3
|
UTSW |
8 |
47,082,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2251:Casp3
|
UTSW |
8 |
47,090,990 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2252:Casp3
|
UTSW |
8 |
47,090,990 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4095:Casp3
|
UTSW |
8 |
47,087,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4209:Casp3
|
UTSW |
8 |
47,088,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4211:Casp3
|
UTSW |
8 |
47,088,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4868:Casp3
|
UTSW |
8 |
47,087,314 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5713:Casp3
|
UTSW |
8 |
47,089,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6847:Casp3
|
UTSW |
8 |
47,089,301 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6957:Casp3
|
UTSW |
8 |
47,087,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7196:Casp3
|
UTSW |
8 |
47,088,498 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7608:Casp3
|
UTSW |
8 |
47,087,368 (GRCm39) |
missense |
probably benign |
|
|
R7682:Casp3
|
UTSW |
8 |
47,085,420 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCGTTTTCTTTTCCAGCAGAGAG -3'
(R):5'- CGTGAGCATGGACACAATACAC -3'
Sequencing Primer
(F):5'- AGCAGTGAGGTCTGGAGTCC -3'
(R):5'- GGACACAATACACGGGATCTGTTTC -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation