Incidental Mutation 'R1309:Ccm2l'
| ID |
157872 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccm2l
|
| Ensembl Gene |
ENSMUSG00000027474 |
| Gene Name |
cerebral cavernous malformation 2-like |
| Synonyms |
BC020535 |
| MMRRC Submission |
039375-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1309 (G1)
|
| Quality Score |
146 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
152907875-152923655 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 152912844 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 129
(I129F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105425
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109800]
[ENSMUST00000129377]
|
| AlphaFold |
Q8VCC6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109800
AA Change: I129F
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000105425
Gene: ENSMUSG00000027474
AA Change: I129F
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PTB
|
60 |
160 |
9e-16 |
BLAST |
|
low complexity region
|
163 |
184 |
N/A |
INTRINSIC |
|
low complexity region
|
206 |
222 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
236 |
251 |
1.67e-6 |
PROSPERO |
|
low complexity region
|
252 |
261 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
262 |
280 |
1.67e-6 |
PROSPERO |
|
low complexity region
|
372 |
389 |
N/A |
INTRINSIC |
|
low complexity region
|
465 |
481 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127549
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127898
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000129377
AA Change: I128F
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000122732
Gene: ENSMUSG00000027474
AA Change: I128F
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PTB
|
60 |
136 |
7e-9 |
BLAST |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a reporter allele exhibit delayed wound healing and show impaired tumor growth, poor tumor vascularization, and decreased metastatic potential following injection of Lewis Lung Carcinoma (LLC) cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Angptl2 |
G |
A |
2: 33,136,140 (GRCm39) |
A442T |
probably benign |
Het |
| Ankar |
T |
C |
1: 72,713,163 (GRCm39) |
I709V |
possibly damaging |
Het |
| Asb2 |
A |
G |
12: 103,291,667 (GRCm39) |
V372A |
probably benign |
Het |
| Cdkal1 |
T |
A |
13: 29,541,566 (GRCm39) |
I433F |
possibly damaging |
Het |
| Cpsf7 |
T |
C |
19: 10,510,831 (GRCm39) |
|
probably null |
Het |
| Dhx37 |
C |
T |
5: 125,494,502 (GRCm39) |
W944* |
probably null |
Het |
| Dip2a |
A |
G |
10: 76,115,610 (GRCm39) |
L939P |
probably damaging |
Het |
| Kera |
A |
G |
10: 97,445,288 (GRCm39) |
T216A |
possibly damaging |
Het |
| Lmnb1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
18: 56,872,976 (GRCm39) |
|
probably null |
Het |
| Or2ad1 |
C |
T |
13: 21,326,337 (GRCm39) |
V297I |
probably benign |
Het |
| Prep |
A |
G |
10: 45,002,122 (GRCm39) |
T426A |
probably benign |
Het |
| Rxfp1 |
C |
T |
3: 79,570,599 (GRCm39) |
|
probably null |
Het |
| Spag6 |
A |
G |
2: 18,739,027 (GRCm39) |
Y319C |
probably damaging |
Het |
| Stk24 |
A |
G |
14: 121,540,198 (GRCm39) |
Y134H |
probably damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,937,512 (GRCm39) |
I1179V |
probably benign |
Het |
| Tedc1 |
A |
G |
12: 113,125,400 (GRCm39) |
E274G |
probably benign |
Het |
| Zswim2 |
A |
T |
2: 83,769,100 (GRCm39) |
F87Y |
probably damaging |
Het |
|
| Other mutations in Ccm2l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01726:Ccm2l
|
APN |
2 |
152,922,821 (GRCm39) |
splice site |
probably benign |
|
|
IGL01826:Ccm2l
|
APN |
2 |
152,909,853 (GRCm39) |
splice site |
probably benign |
|
|
IGL02821:Ccm2l
|
APN |
2 |
152,909,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02961:Ccm2l
|
APN |
2 |
152,920,521 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03237:Ccm2l
|
APN |
2 |
152,907,922 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R0103:Ccm2l
|
UTSW |
2 |
152,909,839 (GRCm39) |
nonsense |
probably null |
|
|
R0103:Ccm2l
|
UTSW |
2 |
152,909,839 (GRCm39) |
nonsense |
probably null |
|
|
R0420:Ccm2l
|
UTSW |
2 |
152,912,782 (GRCm39) |
missense |
probably null |
0.08 |
|
R0617:Ccm2l
|
UTSW |
2 |
152,912,820 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0760:Ccm2l
|
UTSW |
2 |
152,914,104 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4787:Ccm2l
|
UTSW |
2 |
152,921,422 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7106:Ccm2l
|
UTSW |
2 |
152,912,571 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R7159:Ccm2l
|
UTSW |
2 |
152,912,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8141:Ccm2l
|
UTSW |
2 |
152,912,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8751:Ccm2l
|
UTSW |
2 |
152,909,695 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8852:Ccm2l
|
UTSW |
2 |
152,916,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8971:Ccm2l
|
UTSW |
2 |
152,909,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9046:Ccm2l
|
UTSW |
2 |
152,916,720 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGTCCTGCATTAACTCAGAGGC -3'
(R):5'- TTGCTGACCTGAAACCTCCAAGAC -3'
Sequencing Primer
(F):5'- AGAGGCTAGAATCTCCCATTTC -3'
(R):5'- TACTGTCAGATCAGAGTCAAGC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation