Incidental Mutation 'R4113:Casp2'
ID |
314499 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Casp2
|
Ensembl Gene |
ENSMUSG00000029863 |
Gene Name |
caspase 2 |
Synonyms |
Nedd2, Ich-1, Caspase-2 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.354)
|
Stock # |
R4113 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
42241942-42259442 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 42244828 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 76
(A76T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121184
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031895]
[ENSMUST00000095987]
[ENSMUST00000156829]
|
AlphaFold |
P29594 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031895
AA Change: A76T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000031895 Gene: ENSMUSG00000029863 AA Change: A76T
Domain | Start | End | E-Value | Type |
CARD
|
32 |
120 |
2.27e-32 |
SMART |
CASc
|
191 |
447 |
3.27e-129 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000095987
|
SMART Domains |
Protein: ENSMUSP00000100590 Gene: ENSMUSG00000071506
Domain | Start | End | E-Value | Type |
transmembrane domain
|
13 |
32 |
N/A |
INTRINSIC |
Pfam:TMEM51
|
58 |
194 |
1e-9 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132246
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139930
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141669
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144821
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000156829
AA Change: A76T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000121184 Gene: ENSMUSG00000029863 AA Change: A76T
Domain | Start | End | E-Value | Type |
CARD
|
32 |
120 |
2.27e-32 |
SMART |
CASc
|
191 |
341 |
8.07e-38 |
SMART |
|
Meta Mutation Damage Score |
0.3167 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.6%
- 20x: 96.1%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes the evolutionarily ancient and most conserved member of the cysteine proteases that plays important role in stress-induced apoptosis, DNA repair and tumor suppression. Mice lacking the encoded protein develop normally but display cell type-specific apoptotic defects. Germ cells and oocytes from such mice were found to be resistant to cell death after treatment with chemotherapeutic drugs. [provided by RefSeq, Apr 2015] PHENOTYPE: Homozygous mutation of this gene results in abnormal apoptosis. Apoptosis is reduced in the female germline, but is increased in sympathetic neurons during development. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bace2 |
A |
G |
16: 97,237,856 (GRCm39) |
T436A |
probably benign |
Het |
BC024139 |
A |
G |
15: 76,005,827 (GRCm39) |
M458T |
probably benign |
Het |
Catsper3 |
A |
G |
13: 55,934,183 (GRCm39) |
K35E |
probably damaging |
Het |
Ccdc88c |
A |
G |
12: 100,911,332 (GRCm39) |
L34P |
probably damaging |
Het |
Dcaf13 |
T |
A |
15: 38,993,615 (GRCm39) |
I236N |
probably damaging |
Het |
Dip2c |
G |
T |
13: 9,687,137 (GRCm39) |
G1254C |
probably damaging |
Het |
Dnah12 |
T |
C |
14: 26,414,722 (GRCm39) |
L41P |
probably damaging |
Het |
Dnah17 |
T |
C |
11: 118,003,420 (GRCm39) |
K514R |
possibly damaging |
Het |
Dnajb12 |
T |
A |
10: 59,730,136 (GRCm39) |
S270R |
possibly damaging |
Het |
Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
Eya4 |
G |
T |
10: 23,031,849 (GRCm39) |
S235Y |
probably damaging |
Het |
Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
Gdf3 |
A |
G |
6: 122,584,016 (GRCm39) |
I117T |
probably damaging |
Het |
Gm5611 |
T |
A |
9: 16,941,989 (GRCm39) |
|
noncoding transcript |
Het |
Gtf3c4 |
G |
A |
2: 28,717,567 (GRCm39) |
T771I |
probably damaging |
Het |
Hrh3 |
C |
A |
2: 179,744,643 (GRCm39) |
R99L |
possibly damaging |
Het |
Hyls1 |
T |
A |
9: 35,472,714 (GRCm39) |
Y234F |
probably damaging |
Het |
Irak1bp1 |
T |
C |
9: 82,728,728 (GRCm39) |
S220P |
probably benign |
Het |
Lama1 |
G |
A |
17: 68,071,698 (GRCm39) |
V862I |
probably benign |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Or14a258 |
G |
A |
7: 86,035,733 (GRCm39) |
T45M |
possibly damaging |
Het |
Or4b12 |
A |
T |
2: 90,096,684 (GRCm39) |
L30H |
probably damaging |
Het |
Pcdh8 |
T |
C |
14: 80,004,953 (GRCm39) |
D927G |
probably damaging |
Het |
Prelid3a |
T |
C |
18: 67,605,967 (GRCm39) |
Y25H |
probably damaging |
Het |
Ptprm |
T |
C |
17: 67,032,808 (GRCm39) |
D1015G |
probably damaging |
Het |
Rhox3f |
G |
T |
X: 36,763,672 (GRCm39) |
E140* |
probably null |
Het |
Riox2 |
C |
T |
16: 59,312,257 (GRCm39) |
L465F |
probably benign |
Het |
Sec31b |
G |
T |
19: 44,512,968 (GRCm39) |
T507N |
possibly damaging |
Het |
Stab1 |
C |
T |
14: 30,890,436 (GRCm39) |
R5Q |
probably damaging |
Het |
Stmn3 |
T |
C |
2: 180,949,089 (GRCm39) |
K135E |
possibly damaging |
Het |
Synj2 |
G |
A |
17: 6,058,240 (GRCm39) |
G243S |
probably benign |
Het |
Tasor |
C |
T |
14: 27,181,918 (GRCm39) |
R483* |
probably null |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Tshz2 |
C |
A |
2: 169,727,450 (GRCm39) |
P213Q |
probably benign |
Het |
Tssk4 |
A |
G |
14: 55,887,830 (GRCm39) |
T9A |
probably benign |
Het |
Ube4a |
T |
A |
9: 44,860,247 (GRCm39) |
I272F |
probably damaging |
Het |
Unc79 |
T |
C |
12: 103,025,629 (GRCm39) |
C339R |
probably damaging |
Het |
Vmn2r87 |
T |
C |
10: 130,315,691 (GRCm39) |
D125G |
probably benign |
Het |
Yap1 |
A |
T |
9: 7,938,432 (GRCm39) |
*358K |
probably null |
Het |
Zfp992 |
C |
T |
4: 146,551,976 (GRCm39) |
H566Y |
probably damaging |
Het |
|
Other mutations in Casp2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00826:Casp2
|
APN |
6 |
42,246,219 (GRCm39) |
nonsense |
probably null |
|
IGL02094:Casp2
|
APN |
6 |
42,257,293 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02371:Casp2
|
APN |
6 |
42,244,902 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02414:Casp2
|
APN |
6 |
42,257,380 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03298:Casp2
|
APN |
6 |
42,245,924 (GRCm39) |
splice site |
probably benign |
|
R1240:Casp2
|
UTSW |
6 |
42,245,879 (GRCm39) |
missense |
probably damaging |
1.00 |
R1424:Casp2
|
UTSW |
6 |
42,253,725 (GRCm39) |
splice site |
probably benign |
|
R1672:Casp2
|
UTSW |
6 |
42,245,842 (GRCm39) |
missense |
probably damaging |
1.00 |
R4110:Casp2
|
UTSW |
6 |
42,244,828 (GRCm39) |
missense |
probably damaging |
1.00 |
R5062:Casp2
|
UTSW |
6 |
42,246,206 (GRCm39) |
splice site |
probably benign |
|
R5469:Casp2
|
UTSW |
6 |
42,246,268 (GRCm39) |
missense |
probably benign |
0.00 |
R5835:Casp2
|
UTSW |
6 |
42,244,520 (GRCm39) |
missense |
possibly damaging |
0.84 |
R5877:Casp2
|
UTSW |
6 |
42,253,571 (GRCm39) |
intron |
probably benign |
|
R6103:Casp2
|
UTSW |
6 |
42,256,814 (GRCm39) |
missense |
probably damaging |
0.99 |
R6667:Casp2
|
UTSW |
6 |
42,256,770 (GRCm39) |
missense |
probably damaging |
1.00 |
R6702:Casp2
|
UTSW |
6 |
42,244,985 (GRCm39) |
missense |
probably benign |
|
R6754:Casp2
|
UTSW |
6 |
42,246,264 (GRCm39) |
missense |
probably damaging |
1.00 |
R7141:Casp2
|
UTSW |
6 |
42,257,329 (GRCm39) |
missense |
possibly damaging |
0.68 |
R7255:Casp2
|
UTSW |
6 |
42,245,841 (GRCm39) |
missense |
probably damaging |
1.00 |
R7611:Casp2
|
UTSW |
6 |
42,250,972 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9135:Casp2
|
UTSW |
6 |
42,245,882 (GRCm39) |
missense |
probably benign |
0.03 |
R9350:Casp2
|
UTSW |
6 |
42,246,332 (GRCm39) |
missense |
probably benign |
0.15 |
X0065:Casp2
|
UTSW |
6 |
42,257,077 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Predicted Primers |
PCR Primer
(F):5'- TAAACTGGTCTGAGGCAGGC -3'
(R):5'- ACAGTCCTAGGGCTTCATACC -3'
Sequencing Primer
(F):5'- TCTGAGGCAGGCTTGGAGAAG -3'
(R):5'- CTTCATACCGGTGGGAGTAC -3'
|
Posted On |
2015-05-14 |