Incidental Mutation 'R2199:Ccm2'
ID |
238568 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccm2
|
Ensembl Gene |
ENSMUSG00000000378 |
Gene Name |
cerebral cavernous malformation 2 |
Synonyms |
|
MMRRC Submission |
040201-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2199 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
6496887-6546744 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 6540790 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 216
(V216A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000000388
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000388]
[ENSMUST00000109721]
[ENSMUST00000109722]
[ENSMUST00000159007]
[ENSMUST00000160633]
[ENSMUST00000161501]
|
AlphaFold |
Q8K2Y9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000000388
AA Change: V216A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000000388 Gene: ENSMUSG00000000378 AA Change: V216A
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: ENSMUST00000109721
AA Change: V152A
PolyPhen 2
Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000105343 Gene: ENSMUSG00000000378 AA Change: V152A
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: ENSMUST00000109722
AA Change: V152A
PolyPhen 2
Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000105344 Gene: ENSMUSG00000000378 AA Change: V152A
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: ENSMUST00000159007
|
SMART Domains |
Protein: ENSMUSP00000125608 Gene: ENSMUSG00000000378
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
10 |
N/A |
INTRINSIC |
Blast:PTB
|
11 |
102 |
3e-20 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160633
AA Change: V210A
PolyPhen 2
Score 0.333 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000125072 Gene: ENSMUSG00000000378 AA Change: V210A
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
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
T |
C |
17: 24,554,598 (GRCm39) |
I119V |
probably benign |
Het |
Arfgap2 |
T |
A |
2: 91,096,037 (GRCm39) |
|
probably null |
Het |
Ctdspl2 |
T |
C |
2: 121,817,510 (GRCm39) |
|
probably null |
Het |
Dmxl2 |
T |
C |
9: 54,283,527 (GRCm39) |
T2769A |
probably benign |
Het |
Dnah3 |
C |
T |
7: 119,550,792 (GRCm39) |
V3165M |
possibly damaging |
Het |
Dnajc1 |
A |
C |
2: 18,313,710 (GRCm39) |
F137C |
probably damaging |
Het |
Gli2 |
A |
T |
1: 118,765,378 (GRCm39) |
D924E |
possibly damaging |
Het |
Gnrhr |
T |
C |
5: 86,345,677 (GRCm39) |
N3S |
probably benign |
Het |
Grhl1 |
G |
T |
12: 24,662,169 (GRCm39) |
R536L |
probably damaging |
Het |
Hormad1 |
T |
C |
3: 95,475,033 (GRCm39) |
|
probably null |
Het |
Il20 |
T |
A |
1: 130,838,476 (GRCm39) |
I74L |
probably benign |
Het |
Ints11 |
A |
G |
4: 155,959,738 (GRCm39) |
K115R |
probably benign |
Het |
Irx4 |
A |
T |
13: 73,413,720 (GRCm39) |
E63D |
probably benign |
Het |
Itch |
A |
C |
2: 155,044,141 (GRCm39) |
Q482P |
probably benign |
Het |
Kctd8 |
C |
A |
5: 69,498,588 (GRCm39) |
M19I |
probably benign |
Het |
Klhl31 |
T |
C |
9: 77,557,383 (GRCm39) |
L33P |
probably damaging |
Het |
Lrp1 |
A |
T |
10: 127,382,709 (GRCm39) |
C3691S |
probably damaging |
Het |
Lrrc39 |
A |
G |
3: 116,364,610 (GRCm39) |
D167G |
probably damaging |
Het |
Lrrd1 |
A |
T |
5: 3,916,478 (GRCm39) |
I832L |
possibly damaging |
Het |
Lrriq1 |
A |
G |
10: 102,904,774 (GRCm39) |
V1620A |
probably damaging |
Het |
Ltbr |
T |
C |
6: 125,289,024 (GRCm39) |
K213E |
probably benign |
Het |
Megf8 |
T |
A |
7: 25,039,039 (GRCm39) |
D883E |
possibly damaging |
Het |
Nherf2 |
T |
C |
17: 24,859,570 (GRCm39) |
E174G |
probably null |
Het |
Nmt1 |
T |
A |
11: 102,954,682 (GRCm39) |
S405T |
probably damaging |
Het |
Nsd3 |
G |
T |
8: 26,156,073 (GRCm39) |
V547F |
probably damaging |
Het |
Or4c110 |
A |
G |
2: 88,831,894 (GRCm39) |
V246A |
probably damaging |
Het |
Or7g16 |
C |
A |
9: 18,727,219 (GRCm39) |
V124F |
probably damaging |
Het |
Otud7a |
A |
G |
7: 63,407,404 (GRCm39) |
K569R |
possibly damaging |
Het |
Otud7b |
A |
G |
3: 96,063,089 (GRCm39) |
Y776C |
probably damaging |
Het |
Pcdh15 |
T |
C |
10: 74,006,341 (GRCm39) |
I73T |
probably damaging |
Het |
Rnf213 |
A |
T |
11: 119,350,835 (GRCm39) |
H3890L |
probably benign |
Het |
Sall3 |
T |
C |
18: 81,015,085 (GRCm39) |
T948A |
probably benign |
Het |
Slc44a3 |
T |
C |
3: 121,307,393 (GRCm39) |
I198V |
probably benign |
Het |
Smg7 |
C |
A |
1: 152,730,079 (GRCm39) |
D405Y |
probably damaging |
Het |
Synpo2l |
A |
G |
14: 20,711,987 (GRCm39) |
L211S |
probably benign |
Het |
Thsd7b |
A |
G |
1: 130,145,895 (GRCm39) |
Y1601C |
probably benign |
Het |
Traf4 |
T |
C |
11: 78,050,806 (GRCm39) |
Y450C |
probably damaging |
Het |
Trpv1 |
A |
G |
11: 73,131,077 (GRCm39) |
K239E |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,585,150 (GRCm39) |
G20302S |
probably damaging |
Het |
Ube2o |
A |
G |
11: 116,435,571 (GRCm39) |
S406P |
probably benign |
Het |
Xrn2 |
C |
T |
2: 146,866,670 (GRCm39) |
A80V |
probably damaging |
Het |
Zfp616 |
C |
T |
11: 73,975,456 (GRCm39) |
T575I |
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 |
IGL02946:Ccm2
|
APN |
11 |
6,546,195 (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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGGCCATAGTCTCTTCTCAG -3'
(R):5'- TGCTCGGGCATACCAAAAGG -3'
Sequencing Primer
(F):5'- TGATACCCTGGGCTGTGACAG -3'
(R):5'- AGTTCCCCAGCATCCCTG -3'
|
Posted On |
2014-10-02 |