Incidental Mutation 'IGL00826:Casp2'
| ID |
9396 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL00826
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
42241942-42259442 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 42246219 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 192
(Y192*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121184
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031895]
[ENSMUST00000095987]
[ENSMUST00000156829]
|
| AlphaFold |
P29594 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000031895
AA Change: Y192*
|
| SMART Domains |
Protein: ENSMUSP00000031895
Gene: ENSMUSG00000029863
AA Change: Y192*
| 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 null
Transcript: ENSMUST00000156829
AA Change: Y192*
|
| SMART Domains |
Protein: ENSMUSP00000121184
Gene: ENSMUSG00000029863
AA Change: Y192*
| Domain | Start | End | E-Value | Type |
|---|
|
CARD
|
32 |
120 |
2.27e-32 |
SMART |
|
CASc
|
191 |
341 |
8.07e-38 |
SMART |
|
| Coding Region Coverage |
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
T |
G |
8: 111,766,932 (GRCm39) |
S105A |
probably damaging |
Het |
| Adamtsl1 |
C |
T |
4: 86,075,041 (GRCm39) |
P136L |
probably damaging |
Het |
| Akap13 |
C |
A |
7: 75,327,195 (GRCm39) |
N376K |
probably damaging |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Cyp2c68 |
A |
G |
19: 39,727,949 (GRCm39) |
Y68H |
possibly damaging |
Het |
| Cyp2j9 |
A |
T |
4: 96,474,167 (GRCm39) |
I91K |
possibly damaging |
Het |
| Diablo |
T |
C |
5: 123,650,751 (GRCm39) |
I179M |
probably benign |
Het |
| Dnah9 |
C |
T |
11: 65,880,768 (GRCm39) |
V2610M |
probably damaging |
Het |
| Dsc2 |
C |
T |
18: 20,168,372 (GRCm39) |
A696T |
probably damaging |
Het |
| Eaf2 |
A |
T |
16: 36,621,038 (GRCm39) |
M218K |
probably benign |
Het |
| Emc9 |
G |
T |
14: 55,822,377 (GRCm39) |
L64I |
possibly damaging |
Het |
| Epb41l2 |
T |
C |
10: 25,317,620 (GRCm39) |
S46P |
probably benign |
Het |
| Galnt7 |
A |
T |
8: 57,993,105 (GRCm39) |
Y405* |
probably null |
Het |
| Gnl3 |
A |
G |
14: 30,734,753 (GRCm39) |
|
probably benign |
Het |
| Map1a |
A |
G |
2: 121,132,757 (GRCm39) |
Q1191R |
possibly damaging |
Het |
| Map2k2 |
G |
A |
10: 80,954,052 (GRCm39) |
V173I |
probably benign |
Het |
| Nbeal2 |
A |
G |
9: 110,455,971 (GRCm39) |
V2408A |
probably benign |
Het |
| Npepps |
T |
C |
11: 97,126,884 (GRCm39) |
|
probably benign |
Het |
| Osbpl8 |
A |
T |
10: 111,108,181 (GRCm39) |
|
probably benign |
Het |
| Phf12 |
G |
T |
11: 77,906,332 (GRCm39) |
R282L |
probably damaging |
Het |
| Phf21a |
T |
G |
2: 92,174,881 (GRCm39) |
|
probably benign |
Het |
| Plin2 |
T |
C |
4: 86,582,683 (GRCm39) |
N98D |
possibly damaging |
Het |
| Prl7a1 |
A |
G |
13: 27,824,778 (GRCm39) |
V19A |
probably damaging |
Het |
| Slfn10-ps |
T |
C |
11: 82,926,085 (GRCm39) |
|
noncoding transcript |
Het |
| Spag11b |
T |
G |
8: 19,191,423 (GRCm39) |
V33G |
possibly damaging |
Het |
| Trappc13 |
A |
T |
13: 104,281,016 (GRCm39) |
S349T |
probably benign |
Het |
| Trim34a |
T |
C |
7: 103,910,140 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Casp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R4113: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 |
|
| Posted On |
2012-12-06 |
Incidental Mutation