Incidental Mutation 'R1201:Ccm2'
| ID |
101395 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccm2
|
| Ensembl Gene |
ENSMUSG00000000378 |
| Gene Name |
cerebral cavernous malformation 2 |
| Synonyms |
|
| MMRRC Submission |
039271-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1201 (G1)
|
| Quality Score |
119 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
6496887-6546744 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 6543682 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 231
(V231A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105344
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000388]
[ENSMUST00000045713]
[ENSMUST00000109721]
[ENSMUST00000109722]
[ENSMUST00000159007]
[ENSMUST00000160633]
[ENSMUST00000161501]
|
| AlphaFold |
Q8K2Y9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000388
AA Change: V295A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000000388
Gene: ENSMUSG00000000378
AA Change: V295A
| 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 benign
Transcript: ENSMUST00000109721
AA Change: V231A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000105343
Gene: ENSMUSG00000000378
AA Change: V231A
| 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: V231A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000105344
Gene: ENSMUSG00000000378
AA Change: V231A
| 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
|
| 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: ENSMUST00000177050
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177391
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 89.4%
|
| 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 |
|---|
| 4932414N04Rik |
A |
G |
2: 68,546,626 (GRCm39) |
T103A |
possibly damaging |
Het |
| Acly |
A |
G |
11: 100,384,761 (GRCm39) |
I674T |
probably damaging |
Het |
| Aco2 |
C |
T |
15: 81,779,394 (GRCm39) |
S33L |
probably damaging |
Het |
| Actc1 |
A |
G |
2: 113,879,994 (GRCm39) |
|
probably null |
Het |
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Arhgap40 |
A |
C |
2: 158,376,689 (GRCm39) |
D275A |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 37,002,524 (GRCm39) |
S1490G |
probably benign |
Het |
| Car11 |
A |
G |
7: 45,352,904 (GRCm39) |
D221G |
probably benign |
Het |
| Catsperg1 |
A |
T |
7: 28,891,095 (GRCm39) |
H596Q |
possibly damaging |
Het |
| Crh |
A |
G |
3: 19,748,090 (GRCm39) |
I184T |
probably damaging |
Het |
| Csgalnact2 |
A |
G |
6: 118,091,393 (GRCm39) |
S424P |
probably damaging |
Het |
| Dbf4 |
A |
C |
5: 8,447,498 (GRCm39) |
L571V |
possibly damaging |
Het |
| Fancm |
A |
G |
12: 65,153,542 (GRCm39) |
K66E |
possibly damaging |
Het |
| Hydin |
T |
C |
8: 111,296,487 (GRCm39) |
V3672A |
probably benign |
Het |
| Kcnh2 |
C |
T |
5: 24,527,670 (GRCm39) |
R894H |
probably damaging |
Het |
| Krt36 |
T |
C |
11: 99,994,883 (GRCm39) |
N230D |
probably benign |
Het |
| Nlrp4b |
G |
T |
7: 10,449,363 (GRCm39) |
R522L |
possibly damaging |
Het |
| Ntn1 |
T |
C |
11: 68,104,052 (GRCm39) |
D532G |
probably damaging |
Het |
| Numb |
A |
T |
12: 83,848,059 (GRCm39) |
V215D |
probably damaging |
Het |
| Or1x2 |
T |
A |
11: 50,917,937 (GRCm39) |
M36K |
probably damaging |
Het |
| Or4k15 |
T |
A |
14: 50,364,813 (GRCm39) |
W260R |
probably damaging |
Het |
| Or5k8 |
A |
G |
16: 58,644,226 (GRCm39) |
I282T |
probably damaging |
Het |
| Or6b2b |
T |
G |
1: 92,418,875 (GRCm39) |
I201L |
probably benign |
Het |
| Or7a39 |
A |
T |
10: 78,715,311 (GRCm39) |
M102L |
probably benign |
Het |
| Otulinl |
G |
A |
15: 27,658,259 (GRCm39) |
Q84* |
probably null |
Het |
| Pidd1 |
A |
G |
7: 141,020,187 (GRCm39) |
F580L |
probably benign |
Het |
| Plekhg4 |
A |
G |
8: 106,108,305 (GRCm39) |
D1116G |
probably damaging |
Het |
| Prss33 |
G |
T |
17: 24,054,084 (GRCm39) |
S74* |
probably null |
Het |
| Rab34 |
T |
A |
11: 78,081,222 (GRCm39) |
|
probably null |
Het |
| Rims2 |
A |
C |
15: 39,479,720 (GRCm39) |
T1251P |
possibly damaging |
Het |
| Skint5 |
A |
G |
4: 113,413,342 (GRCm39) |
S1152P |
unknown |
Het |
| Slc6a17 |
T |
A |
3: 107,400,388 (GRCm39) |
Q206L |
possibly damaging |
Het |
| Tmem59l |
C |
T |
8: 70,937,037 (GRCm39) |
W310* |
probably null |
Het |
| Tnrc6c |
T |
G |
11: 117,612,500 (GRCm39) |
N379K |
probably damaging |
Het |
| Vmn1r76 |
A |
C |
7: 11,664,252 (GRCm39) |
F286V |
probably benign |
Het |
| Xdh |
T |
C |
17: 74,225,413 (GRCm39) |
D463G |
probably benign |
Het |
| Zfp251 |
C |
T |
15: 76,738,436 (GRCm39) |
R219Q |
possibly damaging |
Het |
| Zfp263 |
T |
A |
16: 3,567,294 (GRCm39) |
H536Q |
probably damaging |
Het |
| Zfp607a |
T |
A |
7: 27,578,736 (GRCm39) |
F602Y |
probably 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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCAGTCCTCCTTAGTCGGTGTTC -3'
(R):5'- TTCAAACAGAGGCATCAGGCCCAG -3'
Sequencing Primer
(F):5'- CTTAGTCGGTGTTCGTGCTTG -3'
(R):5'- GCTGTTTCGAATCAGTACCAG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation