Incidental Mutation 'IGL02946:Ccm2'
ID |
364731 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ccm2
|
Ensembl Gene |
ENSMUSG00000000378 |
Gene Name |
cerebral cavernous malformation 2 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02946
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
6496887-6546744 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 6546195 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 335
(R335H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105344
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000388]
[ENSMUST00000045713]
[ENSMUST00000109721]
[ENSMUST00000109722]
[ENSMUST00000160633]
[ENSMUST00000161501]
|
AlphaFold |
Q8K2Y9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000000388
AA Change: R399H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000000388 Gene: ENSMUSG00000000378 AA Change: R399H
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
Blast:PTB
|
60 |
230 |
2e-35 |
BLAST |
low complexity region
|
242 |
252 |
N/A |
INTRINSIC |
Pfam:CCM2_C
|
296 |
396 |
8.9e-50 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000045713
|
SMART Domains |
Protein: ENSMUSP00000049490 Gene: ENSMUSG00000041073
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
28 |
N/A |
INTRINSIC |
low complexity region
|
70 |
87 |
N/A |
INTRINSIC |
low complexity region
|
228 |
235 |
N/A |
INTRINSIC |
low complexity region
|
266 |
277 |
N/A |
INTRINSIC |
low complexity region
|
294 |
306 |
N/A |
INTRINSIC |
low complexity region
|
328 |
354 |
N/A |
INTRINSIC |
low complexity region
|
391 |
422 |
N/A |
INTRINSIC |
low complexity region
|
454 |
479 |
N/A |
INTRINSIC |
internal_repeat_1
|
537 |
689 |
6.19e-8 |
PROSPERO |
low complexity region
|
692 |
713 |
N/A |
INTRINSIC |
internal_repeat_1
|
732 |
889 |
6.19e-8 |
PROSPERO |
low complexity region
|
924 |
939 |
N/A |
INTRINSIC |
low complexity region
|
1159 |
1170 |
N/A |
INTRINSIC |
low complexity region
|
1308 |
1325 |
N/A |
INTRINSIC |
Pfam:NAC
|
1357 |
1413 |
2.9e-24 |
PFAM |
low complexity region
|
1449 |
1466 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109721
AA Change: R335H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105343 Gene: ENSMUSG00000000378 AA Change: R335H
Domain | Start | End | E-Value | Type |
Blast:PTB
|
2 |
166 |
2e-32 |
BLAST |
low complexity region
|
178 |
188 |
N/A |
INTRINSIC |
low complexity region
|
230 |
244 |
N/A |
INTRINSIC |
PDB:4FQN|D
|
245 |
324 |
5e-52 |
PDB |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109722
AA Change: R335H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105344 Gene: ENSMUSG00000000378 AA Change: R335H
Domain | Start | End | E-Value | Type |
Blast:PTB
|
2 |
166 |
2e-32 |
BLAST |
low complexity region
|
178 |
188 |
N/A |
INTRINSIC |
low complexity region
|
230 |
244 |
N/A |
INTRINSIC |
PDB:4FQN|D
|
245 |
324 |
5e-52 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160633
|
SMART Domains |
Protein: ENSMUSP00000125072 Gene: ENSMUSG00000000378
Domain | Start | End | E-Value | Type |
Blast:PTB
|
54 |
224 |
6e-38 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161501
|
SMART Domains |
Protein: ENSMUSP00000123790 Gene: ENSMUSG00000000378
Domain | Start | End | E-Value | Type |
Blast:PTB
|
40 |
122 |
3e-10 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161667
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177391
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177050
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a scaffold protein that functions in the stress-activated p38 Mitogen-activated protein kinase (MAPK) signaling cascade. The protein interacts with SMAD specific E3 ubiquitin protein ligase 1 (also known as SMURF1) via a phosphotyrosine binding domain to promote RhoA degradation. The protein is required for normal cytoskeletal structure, cell-cell interactions, and lumen formation in endothelial cells. Mutations in this gene result in cerebral cavernous malformations. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2009] PHENOTYPE: Homozygous null mice die during embryonic development with vasculature defects in the heart and placenta. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
G |
A |
11: 109,919,041 (GRCm39) |
|
probably benign |
Het |
Actr3b |
T |
C |
5: 26,053,481 (GRCm39) |
I270T |
possibly damaging |
Het |
Adgrf2 |
T |
C |
17: 43,021,384 (GRCm39) |
Y480C |
probably damaging |
Het |
Arhgap27 |
T |
C |
11: 103,229,174 (GRCm39) |
T514A |
probably damaging |
Het |
BC031181 |
C |
T |
18: 75,141,736 (GRCm39) |
|
probably benign |
Het |
Cckbr |
C |
T |
7: 105,083,238 (GRCm39) |
A147V |
probably damaging |
Het |
Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
Crabp1 |
T |
C |
9: 54,672,232 (GRCm39) |
F16S |
possibly damaging |
Het |
Crmp1 |
C |
T |
5: 37,441,424 (GRCm39) |
A502V |
probably damaging |
Het |
Ehhadh |
A |
T |
16: 21,581,672 (GRCm39) |
V440D |
probably damaging |
Het |
Galnt3 |
T |
A |
2: 65,925,562 (GRCm39) |
I392L |
probably damaging |
Het |
Gm12689 |
T |
A |
4: 99,184,490 (GRCm39) |
N114K |
unknown |
Het |
Hspa2 |
A |
G |
12: 76,451,947 (GRCm39) |
T214A |
probably damaging |
Het |
Itga7 |
T |
C |
10: 128,769,952 (GRCm39) |
I32T |
probably benign |
Het |
Itgal |
A |
G |
7: 126,913,540 (GRCm39) |
S682G |
probably damaging |
Het |
Kctd1 |
C |
T |
18: 15,107,036 (GRCm39) |
|
probably null |
Het |
Lrp1b |
T |
A |
2: 41,202,571 (GRCm39) |
D439V |
probably damaging |
Het |
Mdn1 |
A |
G |
4: 32,734,366 (GRCm39) |
K3258E |
probably damaging |
Het |
Mgat4c |
T |
C |
10: 102,225,114 (GRCm39) |
S443P |
probably benign |
Het |
Mylk |
G |
A |
16: 34,742,158 (GRCm39) |
G890E |
probably benign |
Het |
Mylk2 |
T |
A |
2: 152,761,130 (GRCm39) |
L446* |
probably null |
Het |
Niban1 |
A |
T |
1: 151,525,176 (GRCm39) |
I194F |
probably damaging |
Het |
Or2t26 |
T |
G |
11: 49,039,719 (GRCm39) |
F212V |
probably damaging |
Het |
Pi4k2b |
T |
C |
5: 52,910,549 (GRCm39) |
F278L |
probably damaging |
Het |
Pitpnm3 |
A |
G |
11: 71,983,378 (GRCm39) |
S84P |
probably benign |
Het |
Plxna2 |
T |
C |
1: 194,431,617 (GRCm39) |
|
probably benign |
Het |
Prr5l |
C |
A |
2: 101,602,529 (GRCm39) |
|
probably null |
Het |
Ptprs |
T |
C |
17: 56,731,032 (GRCm39) |
T719A |
probably benign |
Het |
Rasa3 |
T |
C |
8: 13,648,280 (GRCm39) |
H128R |
probably benign |
Het |
Rhox13 |
A |
G |
X: 37,218,652 (GRCm39) |
K205E |
probably damaging |
Het |
Rif1 |
C |
A |
2: 52,000,137 (GRCm39) |
S1197* |
probably null |
Het |
Sgta |
A |
G |
10: 80,885,612 (GRCm39) |
|
probably benign |
Het |
Slc25a5 |
T |
A |
X: 36,061,506 (GRCm39) |
M239K |
probably damaging |
Het |
Stil |
T |
A |
4: 114,887,110 (GRCm39) |
H734Q |
probably benign |
Het |
Stk32b |
T |
C |
5: 37,688,883 (GRCm39) |
|
probably benign |
Het |
Ubr4 |
T |
G |
4: 139,152,606 (GRCm39) |
F1999C |
probably damaging |
Het |
Wfdc2 |
A |
C |
2: 164,406,009 (GRCm39) |
T86P |
probably benign |
Het |
Zfp407 |
T |
C |
18: 84,578,834 (GRCm39) |
S760G |
probably damaging |
Het |
Zfp668 |
A |
T |
7: 127,465,690 (GRCm39) |
L498Q |
possibly damaging |
Het |
|
Other mutations in Ccm2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02126:Ccm2
|
APN |
11 |
6,544,154 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02274:Ccm2
|
APN |
11 |
6,540,808 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02973:Ccm2
|
APN |
11 |
6,534,544 (GRCm39) |
missense |
probably damaging |
1.00 |
R0521:Ccm2
|
UTSW |
11 |
6,540,886 (GRCm39) |
missense |
probably damaging |
1.00 |
R1024:Ccm2
|
UTSW |
11 |
6,520,119 (GRCm39) |
nonsense |
probably null |
|
R1201:Ccm2
|
UTSW |
11 |
6,543,682 (GRCm39) |
missense |
probably benign |
|
R1687:Ccm2
|
UTSW |
11 |
6,535,118 (GRCm39) |
missense |
probably damaging |
1.00 |
R2199:Ccm2
|
UTSW |
11 |
6,540,790 (GRCm39) |
missense |
probably damaging |
1.00 |
R3237:Ccm2
|
UTSW |
11 |
6,520,090 (GRCm39) |
missense |
probably benign |
0.43 |
R5196:Ccm2
|
UTSW |
11 |
6,511,181 (GRCm39) |
utr 5 prime |
probably benign |
|
R6954:Ccm2
|
UTSW |
11 |
6,544,239 (GRCm39) |
missense |
probably damaging |
0.98 |
R7195:Ccm2
|
UTSW |
11 |
6,546,302 (GRCm39) |
missense |
probably damaging |
1.00 |
R7417:Ccm2
|
UTSW |
11 |
6,543,091 (GRCm39) |
missense |
probably benign |
0.05 |
R8706:Ccm2
|
UTSW |
11 |
6,539,447 (GRCm39) |
missense |
possibly damaging |
0.65 |
R8863:Ccm2
|
UTSW |
11 |
6,535,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-12-18 |