Incidental Mutation 'R6754:Casp2'
ID |
530955 |
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 # |
R6754 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
42241942-42259442 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 42246264 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 207
(N207K)
|
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: N207K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000031895 Gene: ENSMUSG00000029863 AA Change: N207K
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: N207K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000121184 Gene: ENSMUSG00000029863 AA Change: N207K
Domain | Start | End | E-Value | Type |
CARD
|
32 |
120 |
2.27e-32 |
SMART |
CASc
|
191 |
341 |
8.07e-38 |
SMART |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 97.2%
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsbg3 |
T |
C |
17: 57,190,358 (GRCm39) |
F352L |
probably damaging |
Het |
Acta2 |
T |
C |
19: 34,222,383 (GRCm39) |
D246G |
probably damaging |
Het |
Ank2 |
A |
G |
3: 126,890,488 (GRCm39) |
|
probably benign |
Het |
Bmpr2 |
T |
A |
1: 59,909,439 (GRCm39) |
I971N |
probably damaging |
Het |
C9 |
C |
A |
15: 6,519,424 (GRCm39) |
C8* |
probably null |
Het |
Cd302 |
T |
G |
2: 60,102,451 (GRCm39) |
D56A |
probably benign |
Het |
Cecr2 |
C |
T |
6: 120,734,539 (GRCm39) |
P605S |
probably damaging |
Het |
Cep152 |
A |
G |
2: 125,429,588 (GRCm39) |
V723A |
probably damaging |
Het |
Col17a1 |
C |
T |
19: 47,639,160 (GRCm39) |
|
probably null |
Het |
Ctsk |
T |
C |
3: 95,409,996 (GRCm39) |
V168A |
probably damaging |
Het |
Cyp2c54 |
A |
T |
19: 40,060,004 (GRCm39) |
N176K |
probably damaging |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
F5 |
A |
G |
1: 164,021,332 (GRCm39) |
D1269G |
probably damaging |
Het |
Fat3 |
C |
T |
9: 15,826,357 (GRCm39) |
E4532K |
possibly damaging |
Het |
Hivep2 |
G |
A |
10: 14,005,382 (GRCm39) |
G660D |
probably benign |
Het |
Hspb3 |
A |
T |
13: 113,799,688 (GRCm39) |
I114K |
probably damaging |
Het |
Irag1 |
G |
A |
7: 110,528,719 (GRCm39) |
P43S |
probably damaging |
Het |
Itgb7 |
T |
G |
15: 102,124,595 (GRCm39) |
*807C |
probably null |
Het |
Kbtbd2 |
A |
G |
6: 56,756,239 (GRCm39) |
V499A |
probably damaging |
Het |
Lemd3 |
A |
T |
10: 120,769,565 (GRCm39) |
I589N |
probably damaging |
Het |
Mettl13 |
T |
C |
1: 162,375,692 (GRCm39) |
Y45C |
probably damaging |
Het |
Mllt6 |
C |
T |
11: 97,565,273 (GRCm39) |
T571I |
probably damaging |
Het |
Nabp1 |
A |
G |
1: 51,513,699 (GRCm39) |
I99T |
probably damaging |
Het |
Ndufa4 |
A |
G |
6: 11,906,052 (GRCm39) |
V33A |
probably benign |
Het |
Nr1h5 |
A |
G |
3: 102,856,913 (GRCm39) |
S200P |
probably damaging |
Het |
Ntsr1 |
G |
A |
2: 180,184,476 (GRCm39) |
R393H |
probably benign |
Het |
Obi1 |
C |
T |
14: 104,740,850 (GRCm39) |
E191K |
probably damaging |
Het |
Or14j4 |
T |
C |
17: 37,921,046 (GRCm39) |
N199D |
probably benign |
Het |
Or4c116 |
G |
T |
2: 88,942,640 (GRCm39) |
T72N |
possibly damaging |
Het |
Pcdhb21 |
A |
T |
18: 37,647,736 (GRCm39) |
K288N |
probably benign |
Het |
Pla2g6 |
T |
C |
15: 79,190,510 (GRCm39) |
N351D |
probably benign |
Het |
Polg |
T |
C |
7: 79,109,584 (GRCm39) |
E411G |
probably damaging |
Het |
Prdm11 |
A |
G |
2: 92,844,137 (GRCm39) |
L31P |
probably damaging |
Het |
Rab27b |
G |
A |
18: 70,129,174 (GRCm39) |
T40I |
probably damaging |
Het |
Ruvbl2 |
T |
C |
7: 45,078,182 (GRCm39) |
D97G |
probably benign |
Het |
Saxo4 |
A |
T |
19: 10,454,453 (GRCm39) |
Y328N |
probably damaging |
Het |
Sema3a |
T |
C |
5: 13,649,243 (GRCm39) |
V664A |
possibly damaging |
Het |
Sh2d3c |
T |
C |
2: 32,644,542 (GRCm39) |
S842P |
probably damaging |
Het |
Spam1 |
A |
G |
6: 24,796,315 (GRCm39) |
T89A |
probably damaging |
Het |
Stab1 |
C |
T |
14: 30,863,038 (GRCm39) |
G2187E |
probably benign |
Het |
Tff2 |
C |
A |
17: 31,363,207 (GRCm39) |
A6S |
probably benign |
Het |
Trim80 |
T |
C |
11: 115,339,000 (GRCm39) |
V610A |
probably damaging |
Het |
Trp53bp1 |
A |
G |
2: 121,101,057 (GRCm39) |
V47A |
possibly damaging |
Het |
Ufl1 |
G |
A |
4: 25,267,796 (GRCm39) |
Q292* |
probably null |
Het |
Ulk1 |
A |
T |
5: 110,938,259 (GRCm39) |
V571E |
possibly damaging |
Het |
Usp24 |
A |
T |
4: 106,217,617 (GRCm39) |
N447Y |
probably damaging |
Het |
Vmn1r81 |
A |
T |
7: 11,993,774 (GRCm39) |
I278K |
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 |
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 |
|
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'- CGATGACTGATGCCTTCTGTG -3'
(R):5'- ACTAGATCGCAGGAAGCAGC -3'
Sequencing Primer
(F):5'- GGCTTCTCCTTGTTACCTAGTGTG -3'
(R):5'- TCAGCCCCCAAGTGCAG -3'
|
Posted On |
2018-08-01 |