Incidental Mutation 'R5469:Casp2'
ID |
433405 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Casp2
|
Ensembl Gene |
ENSMUSG00000029863 |
Gene Name |
caspase 2 |
Synonyms |
Nedd2, Ich-1, Caspase-2 |
MMRRC Submission |
043030-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.354)
|
Stock # |
R5469 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
42241942-42259442 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 42246268 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Asparagine
at position 209
(H209N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121184
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031895]
[ENSMUST00000095987]
[ENSMUST00000156829]
|
AlphaFold |
P29594 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031895
AA Change: H209N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000031895 Gene: ENSMUSG00000029863 AA Change: H209N
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 benign
Transcript: ENSMUST00000156829
AA Change: H209N
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000121184 Gene: ENSMUSG00000029863 AA Change: H209N
Domain | Start | End | E-Value | Type |
CARD
|
32 |
120 |
2.27e-32 |
SMART |
CASc
|
191 |
341 |
8.07e-38 |
SMART |
|
Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.3%
- 10x: 95.1%
- 20x: 90.4%
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Allc |
A |
T |
12: 28,605,305 (GRCm39) |
N331K |
probably benign |
Het |
Anapc1 |
G |
T |
2: 128,517,621 (GRCm39) |
S341* |
probably null |
Het |
Cacna1e |
T |
C |
1: 154,319,683 (GRCm39) |
E1339G |
probably damaging |
Het |
Cacna2d1 |
T |
A |
5: 16,557,676 (GRCm39) |
I702N |
probably damaging |
Het |
Casr |
A |
G |
16: 36,330,392 (GRCm39) |
V314A |
probably benign |
Het |
Ccne2 |
A |
T |
4: 11,201,353 (GRCm39) |
R294* |
probably null |
Het |
Cd180 |
T |
A |
13: 102,841,342 (GRCm39) |
H129Q |
probably benign |
Het |
Chst10 |
A |
T |
1: 38,904,608 (GRCm39) |
Y362N |
probably damaging |
Het |
Ctnna1 |
T |
A |
18: 35,372,573 (GRCm39) |
D509E |
probably benign |
Het |
Ctsh |
G |
T |
9: 89,942,564 (GRCm39) |
|
probably null |
Het |
Dhx29 |
C |
T |
13: 113,081,073 (GRCm39) |
A369V |
possibly damaging |
Het |
Enox1 |
A |
G |
14: 77,830,414 (GRCm39) |
T340A |
probably benign |
Het |
Fam135b |
T |
A |
15: 71,317,892 (GRCm39) |
T1357S |
probably benign |
Het |
Flt3 |
A |
T |
5: 147,291,893 (GRCm39) |
S544T |
possibly damaging |
Het |
Gm12689 |
T |
C |
4: 99,184,402 (GRCm39) |
I85T |
unknown |
Het |
Gsap |
A |
T |
5: 21,495,542 (GRCm39) |
Y831F |
possibly damaging |
Het |
Hnrnpr |
C |
T |
4: 136,046,745 (GRCm39) |
T142M |
probably damaging |
Het |
Jak3 |
A |
G |
8: 72,131,417 (GRCm39) |
D94G |
probably benign |
Het |
Ktn1 |
A |
T |
14: 47,928,377 (GRCm39) |
E579D |
probably damaging |
Het |
Lama2 |
G |
A |
10: 26,917,185 (GRCm39) |
P2247S |
possibly damaging |
Het |
Lrba |
C |
T |
3: 86,449,948 (GRCm39) |
S2089F |
probably damaging |
Het |
Map1b |
C |
T |
13: 99,565,846 (GRCm39) |
V2292M |
unknown |
Het |
Mphosph10 |
A |
T |
7: 64,039,193 (GRCm39) |
|
probably null |
Het |
Pappa |
C |
T |
4: 65,123,389 (GRCm39) |
T908M |
probably benign |
Het |
Pdcd10 |
T |
A |
3: 75,428,364 (GRCm39) |
K150* |
probably null |
Het |
Piezo2 |
A |
T |
18: 63,160,935 (GRCm39) |
I2275N |
probably damaging |
Het |
Pmvk |
T |
C |
3: 89,374,989 (GRCm39) |
|
probably null |
Het |
Pold2 |
G |
A |
11: 5,823,048 (GRCm39) |
P376S |
probably damaging |
Het |
Prtg |
A |
T |
9: 72,799,247 (GRCm39) |
Q759L |
probably damaging |
Het |
Rad51ap1 |
C |
T |
6: 126,905,190 (GRCm39) |
S107N |
probably damaging |
Het |
Rfk |
T |
A |
19: 17,372,566 (GRCm39) |
N29K |
probably damaging |
Het |
Ror2 |
T |
C |
13: 53,271,375 (GRCm39) |
M315V |
probably benign |
Het |
Rrn3 |
A |
G |
16: 13,630,964 (GRCm39) |
E600G |
probably benign |
Het |
Ryk |
A |
G |
9: 102,784,153 (GRCm39) |
Y593C |
possibly damaging |
Het |
Slc30a3 |
T |
A |
5: 31,246,004 (GRCm39) |
D193V |
probably damaging |
Het |
Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
Srbd1 |
C |
A |
17: 86,427,370 (GRCm39) |
C421F |
possibly damaging |
Het |
Sstr5 |
A |
C |
17: 25,711,043 (GRCm39) |
V62G |
probably damaging |
Het |
Tfip11 |
G |
A |
5: 112,482,191 (GRCm39) |
W483* |
probably null |
Het |
Tlk1 |
T |
C |
2: 70,552,012 (GRCm39) |
H553R |
probably benign |
Het |
Tnc |
T |
C |
4: 63,932,162 (GRCm39) |
|
probably null |
Het |
Trav12-1 |
A |
G |
14: 53,775,930 (GRCm39) |
T27A |
probably damaging |
Het |
Usp9y |
G |
A |
Y: 1,364,714 (GRCm39) |
T1033I |
probably benign |
Het |
V1ra8 |
C |
T |
6: 90,180,186 (GRCm39) |
H130Y |
probably benign |
Het |
Vmn2r77 |
A |
T |
7: 86,451,271 (GRCm39) |
M386L |
probably benign |
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 |
|
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'- CGATGACTGATGCCTTCTGTG -3'
(R):5'- TAGATCGCAGGAAGCAGCAC -3'
Sequencing Primer
(F):5'- GGCTTCTCCTTGTTACCTAGTGTG -3'
(R):5'- CAGTGAGAAACATCCAGCAGG -3'
|
Posted On |
2016-10-06 |