Incidental Mutation 'R6667:Casp2'
| ID |
527016 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Casp2
|
| Ensembl Gene |
ENSMUSG00000029863 |
| Gene Name |
caspase 2 |
| Synonyms |
Nedd2, Ich-1, Caspase-2 |
| MMRRC Submission |
044787-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.310)
|
| Stock # |
R6667 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
42241942-42259442 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 42256770 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 343
(C343R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031895
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031895]
[ENSMUST00000156829]
|
| AlphaFold |
P29594 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031895
AA Change: C343R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031895
Gene: ENSMUSG00000029863
AA Change: C343R
| Domain | Start | End | E-Value | Type |
|---|
|
CARD
|
32 |
120 |
2.27e-32 |
SMART |
|
CASc
|
191 |
447 |
3.27e-129 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122473
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132398
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141727
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144821
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152893
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156829
|
| SMART Domains |
Protein: ENSMUSP00000121184
Gene: ENSMUSG00000029863
| Domain | Start | End | E-Value | Type |
|---|
|
CARD
|
32 |
120 |
2.27e-32 |
SMART |
|
CASc
|
191 |
341 |
8.07e-38 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203089
|
| Meta Mutation Damage Score |
0.3848 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.6%
|
| Validation Efficiency |
98% (41/42) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3100002H09Rik |
G |
T |
4: 124,504,435 (GRCm39) |
A39E |
probably damaging |
Het |
| Agtr1b |
T |
A |
3: 20,369,913 (GRCm39) |
N231I |
possibly damaging |
Het |
| Alpk2 |
T |
C |
18: 65,440,811 (GRCm39) |
E661G |
probably damaging |
Het |
| Ankrd26 |
C |
T |
6: 118,484,749 (GRCm39) |
S1496N |
probably benign |
Het |
| Asah2 |
T |
C |
19: 31,972,758 (GRCm39) |
N659S |
probably benign |
Het |
| Atp12a |
T |
C |
14: 56,621,645 (GRCm39) |
V760A |
possibly damaging |
Het |
| Cblb |
T |
A |
16: 51,973,007 (GRCm39) |
M446K |
possibly damaging |
Het |
| Cipc |
T |
C |
12: 87,008,864 (GRCm39) |
V241A |
probably benign |
Het |
| Ddit4l |
A |
G |
3: 137,331,882 (GRCm39) |
K83E |
probably benign |
Het |
| Eif1ad10 |
A |
T |
12: 88,216,475 (GRCm39) |
D132E |
unknown |
Het |
| Epc2 |
A |
G |
2: 49,412,681 (GRCm39) |
T220A |
probably damaging |
Het |
| Epha5 |
T |
C |
5: 84,219,050 (GRCm39) |
D741G |
probably damaging |
Het |
| Flg2 |
A |
T |
3: 93,109,068 (GRCm39) |
R365S |
possibly damaging |
Het |
| Ggn |
A |
T |
7: 28,872,093 (GRCm39) |
H491L |
possibly damaging |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Ighv6-4 |
A |
G |
12: 114,370,152 (GRCm39) |
V100A |
probably benign |
Het |
| Invs |
A |
T |
4: 48,402,870 (GRCm39) |
Y501F |
possibly damaging |
Het |
| Iqcm |
G |
T |
8: 76,479,980 (GRCm39) |
G313W |
probably damaging |
Het |
| Jph2 |
A |
G |
2: 163,218,206 (GRCm39) |
S157P |
probably damaging |
Het |
| Mast4 |
T |
C |
13: 102,874,004 (GRCm39) |
E1596G |
probably damaging |
Het |
| Mllt6 |
T |
A |
11: 97,567,760 (GRCm39) |
L759Q |
probably damaging |
Het |
| Nalcn |
A |
G |
14: 123,558,735 (GRCm39) |
L837P |
probably damaging |
Het |
| Neb |
G |
A |
2: 52,037,201 (GRCm39) |
T6836I |
probably damaging |
Het |
| Nol12 |
T |
A |
15: 78,824,280 (GRCm39) |
D133E |
probably benign |
Het |
| Or5w13 |
A |
G |
2: 87,523,914 (GRCm39) |
V104A |
probably benign |
Het |
| Oxtr |
C |
A |
6: 112,454,060 (GRCm39) |
|
probably benign |
Het |
| Pcmt1 |
A |
G |
10: 7,538,913 (GRCm39) |
L38P |
probably damaging |
Het |
| Pik3r2 |
T |
C |
8: 71,221,817 (GRCm39) |
Y617C |
probably damaging |
Het |
| Potefam3b |
T |
C |
8: 21,161,955 (GRCm39) |
S267P |
probably benign |
Het |
| Prl7a2 |
T |
C |
13: 27,845,024 (GRCm39) |
N121D |
probably benign |
Het |
| Pvr |
G |
T |
7: 19,639,727 (GRCm39) |
Q380K |
probably benign |
Het |
| Rtn2 |
A |
G |
7: 19,021,184 (GRCm39) |
E188G |
probably benign |
Het |
| Setd4 |
C |
A |
16: 93,386,918 (GRCm39) |
R260L |
probably benign |
Het |
| Six5 |
A |
G |
7: 18,830,494 (GRCm39) |
N374D |
probably benign |
Het |
| Slc9b1 |
T |
C |
3: 135,077,726 (GRCm39) |
I140T |
probably damaging |
Het |
| Supt16 |
A |
G |
14: 52,409,520 (GRCm39) |
F797L |
probably damaging |
Het |
| Tbata |
T |
C |
10: 61,021,142 (GRCm39) |
L262P |
probably damaging |
Het |
| Tti1 |
A |
T |
2: 157,850,347 (GRCm39) |
C297* |
probably null |
Het |
| Ush1c |
C |
A |
7: 45,875,048 (GRCm39) |
G139C |
probably damaging |
Het |
| Vmn1r1 |
C |
T |
1: 181,985,342 (GRCm39) |
V108I |
probably benign |
Het |
| Vmn2r116 |
C |
T |
17: 23,620,066 (GRCm39) |
T600I |
probably damaging |
Het |
| Zfp764l1 |
A |
G |
7: 126,992,595 (GRCm39) |
M5T |
probably benign |
Het |
| Zfp873 |
A |
G |
10: 81,896,423 (GRCm39) |
T422A |
probably benign |
Het |
| Zfp943 |
G |
A |
17: 22,211,889 (GRCm39) |
C325Y |
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 |
|
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'- AGCTACAGGTTGGAGGCAAC -3'
(R):5'- GGCAAGCTTCACAAAGTCAG -3'
Sequencing Primer
(F):5'- CAGCTAAAAATGGCTCTTCAGTCG -3'
(R):5'- GCTTCACAAAGTCAGACTTCTAGTC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation