Incidental Mutation 'IGL01321:Cd2ap'
| ID |
74040 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cd2ap
|
| Ensembl Gene |
ENSMUSG00000061665 |
| Gene Name |
CD2-associated protein |
| Synonyms |
Mets1, METS-1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01321
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
43103842-43187556 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43156280 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 86
(S86G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024709
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024709]
|
| AlphaFold |
Q9JLQ0 |
| PDB Structure |
Third SH3 domain of CD2AP [SOLUTION NMR]
RDC refined solution structure of the first SH3 domain of CD2AP [SOLUTION NMR]
High resolution structure of the second SH3 domain of CD2AP [SOLUTION NMR]
RDC refined high resolution structure of the third SH3 domain of CD2AP [SOLUTION NMR]
Distinct ubiquitin binding modes exhibited by sh3 domains: molecular determinants and functional implications [SOLUTION NMR]
Distinct ubiquitin binding modes exhibited by SH3 domains: molecular determinants and functional implications [SOLUTION NMR]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000024709
AA Change: S86G
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000024709
Gene: ENSMUSG00000061665
AA Change: S86G
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
2 |
58 |
4.48e-19 |
SMART |
|
SH3
|
111 |
166 |
6.63e-22 |
SMART |
|
low complexity region
|
183 |
195 |
N/A |
INTRINSIC |
|
low complexity region
|
231 |
243 |
N/A |
INTRINSIC |
|
SH3
|
272 |
329 |
4.62e-21 |
SMART |
|
low complexity region
|
336 |
352 |
N/A |
INTRINSIC |
|
low complexity region
|
377 |
399 |
N/A |
INTRINSIC |
|
low complexity region
|
410 |
422 |
N/A |
INTRINSIC |
|
PDB:3LK4|9
|
475 |
503 |
2e-12 |
PDB |
|
low complexity region
|
536 |
555 |
N/A |
INTRINSIC |
|
coiled coil region
|
595 |
635 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a scaffolding molecule that regulates the actin cytoskeleton. The protein directly interacts with filamentous actin and a variety of cell membrane proteins through multiple actin binding sites, SH3 domains, and a proline-rich region containing binding sites for SH3 domains. The cytoplasmic protein localizes to membrane ruffles, lipid rafts, and the leading edges of cells. It is implicated in dynamic actin remodeling and membrane trafficking that occurs during receptor endocytosis and cytokinesis. The mouse genome contains at least two pseudogenes located on chromosomes 9 and 17. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired immune function and die at 6 to 7 weeks of age from kidney failure associated with podocyte defects and mesangial cell hyperplasia. Heterozygotes develop glomerular changes around 9 months. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acnat2 |
A |
G |
4: 49,380,269 (GRCm39) |
S370P |
probably damaging |
Het |
| Adamts5 |
T |
C |
16: 85,696,363 (GRCm39) |
R265G |
probably benign |
Het |
| Cers3 |
A |
C |
7: 66,435,751 (GRCm39) |
|
probably benign |
Het |
| Dnaaf2 |
G |
T |
12: 69,243,376 (GRCm39) |
P562T |
probably damaging |
Het |
| Dnajc21 |
A |
C |
15: 10,447,188 (GRCm39) |
V520G |
probably benign |
Het |
| Dync1h1 |
A |
G |
12: 110,592,041 (GRCm39) |
|
probably benign |
Het |
| Extl3 |
T |
C |
14: 65,304,211 (GRCm39) |
N733D |
probably benign |
Het |
| Gm5499 |
T |
A |
17: 87,385,928 (GRCm39) |
|
noncoding transcript |
Het |
| Gstm6 |
T |
C |
3: 107,848,379 (GRCm39) |
Q180R |
probably benign |
Het |
| Hdlbp |
G |
A |
1: 93,351,524 (GRCm39) |
R460W |
probably damaging |
Het |
| Ift81 |
T |
C |
5: 122,749,031 (GRCm39) |
D40G |
probably damaging |
Het |
| Igsf3 |
T |
A |
3: 101,334,338 (GRCm39) |
|
probably benign |
Het |
| Kcnb2 |
A |
G |
1: 15,383,147 (GRCm39) |
T158A |
probably benign |
Het |
| Lrrc59 |
C |
T |
11: 94,529,426 (GRCm39) |
R167* |
probably null |
Het |
| Macf1 |
A |
G |
4: 123,334,567 (GRCm39) |
C4397R |
probably damaging |
Het |
| Morc1 |
T |
C |
16: 48,402,825 (GRCm39) |
S583P |
probably benign |
Het |
| Mucl3 |
A |
T |
17: 35,947,758 (GRCm39) |
N490K |
probably damaging |
Het |
| Nipsnap2 |
T |
A |
5: 129,834,205 (GRCm39) |
*282R |
probably null |
Het |
| Or2ag19 |
T |
C |
7: 106,443,956 (GRCm39) |
L46P |
probably damaging |
Het |
| Or9m1b |
A |
T |
2: 87,836,589 (GRCm39) |
C178S |
probably damaging |
Het |
| Parp14 |
T |
A |
16: 35,676,929 (GRCm39) |
Q1013L |
probably benign |
Het |
| Pdzd8 |
A |
C |
19: 59,289,961 (GRCm39) |
S480A |
probably benign |
Het |
| Piezo1 |
A |
T |
8: 123,214,339 (GRCm39) |
S1609R |
probably damaging |
Het |
| Pkp4 |
G |
A |
2: 59,180,971 (GRCm39) |
|
probably null |
Het |
| Plpp2 |
A |
T |
10: 79,363,327 (GRCm39) |
V106D |
probably damaging |
Het |
| Rimbp2 |
T |
C |
5: 128,863,816 (GRCm39) |
Y724C |
probably benign |
Het |
| Rpgrip1l |
A |
T |
8: 91,987,501 (GRCm39) |
L852* |
probably null |
Het |
| Samd9l |
T |
A |
6: 3,376,259 (GRCm39) |
D334V |
probably benign |
Het |
| Sipa1l2 |
G |
A |
8: 126,218,257 (GRCm39) |
T360M |
probably damaging |
Het |
| Slc30a2 |
A |
T |
4: 134,070,611 (GRCm39) |
D5V |
probably damaging |
Het |
| Spata31 |
T |
C |
13: 65,069,568 (GRCm39) |
I572T |
probably benign |
Het |
| Tma16 |
G |
A |
8: 66,929,512 (GRCm39) |
L161F |
probably benign |
Het |
| Trappc2b |
A |
T |
11: 51,576,670 (GRCm39) |
V76D |
probably damaging |
Het |
| Trim69 |
A |
T |
2: 122,003,765 (GRCm39) |
E238V |
possibly damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,307,388 (GRCm39) |
T205A |
probably benign |
Het |
|
| Other mutations in Cd2ap |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00674:Cd2ap
|
APN |
17 |
43,119,676 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL00909:Cd2ap
|
APN |
17 |
43,141,005 (GRCm39) |
splice site |
probably benign |
|
|
IGL01350:Cd2ap
|
APN |
17 |
43,136,812 (GRCm39) |
nonsense |
probably null |
|
|
IGL01485:Cd2ap
|
APN |
17 |
43,163,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01834:Cd2ap
|
APN |
17 |
43,137,252 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01834:Cd2ap
|
APN |
17 |
43,137,251 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
PIT4494001:Cd2ap
|
UTSW |
17 |
43,163,258 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0014:Cd2ap
|
UTSW |
17 |
43,118,819 (GRCm39) |
missense |
probably benign |
|
|
R0331:Cd2ap
|
UTSW |
17 |
43,116,192 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0674:Cd2ap
|
UTSW |
17 |
43,156,283 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1471:Cd2ap
|
UTSW |
17 |
43,131,488 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1806:Cd2ap
|
UTSW |
17 |
43,149,649 (GRCm39) |
nonsense |
probably null |
|
|
R3858:Cd2ap
|
UTSW |
17 |
43,127,463 (GRCm39) |
nonsense |
probably null |
|
|
R3911:Cd2ap
|
UTSW |
17 |
43,126,980 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3941:Cd2ap
|
UTSW |
17 |
43,119,690 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4766:Cd2ap
|
UTSW |
17 |
43,163,350 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5024:Cd2ap
|
UTSW |
17 |
43,116,236 (GRCm39) |
splice site |
probably null |
|
|
R5045:Cd2ap
|
UTSW |
17 |
43,118,851 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6051:Cd2ap
|
UTSW |
17 |
43,107,219 (GRCm39) |
makesense |
probably null |
|
|
R6063:Cd2ap
|
UTSW |
17 |
43,136,802 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7034:Cd2ap
|
UTSW |
17 |
43,109,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7036:Cd2ap
|
UTSW |
17 |
43,109,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7214:Cd2ap
|
UTSW |
17 |
43,156,285 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7299:Cd2ap
|
UTSW |
17 |
43,140,904 (GRCm39) |
nonsense |
probably null |
|
|
R7301:Cd2ap
|
UTSW |
17 |
43,140,904 (GRCm39) |
nonsense |
probably null |
|
|
R7402:Cd2ap
|
UTSW |
17 |
43,116,054 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7851:Cd2ap
|
UTSW |
17 |
43,135,363 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8432:Cd2ap
|
UTSW |
17 |
43,109,484 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9009:Cd2ap
|
UTSW |
17 |
43,116,135 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
Z1088:Cd2ap
|
UTSW |
17 |
43,118,884 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2013-10-07 |
Incidental Mutation