Incidental Mutation 'IGL01834:Cd2ap'
ID154908
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd2ap
Ensembl Gene ENSMUSG00000061665
Gene NameCD2-associated protein
SynonymsMets1, METS-1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01834
Quality Score
Status
Chromosome17
Chromosomal Location42792951-42876424 bp(-) (GRCm38)
Type of Mutationcritical splice acceptor site
DNA Base Change (assembly) C to T at 42826360 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000024709 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024709]
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 probably null
Transcript: ENSMUST00000024709
SMART Domains Protein: ENSMUSP00000024709
Gene: ENSMUSG00000061665

DomainStartEndE-ValueType
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox2 A G 1: 58,309,024 I634V possibly damaging Het
Atp13a4 T G 16: 29,415,777 probably benign Het
BC049715 A T 6: 136,840,491 Q243L probably benign Het
C2cd6 G A 1: 58,997,445 probably benign Het
Cd86 G A 16: 36,607,119 R283W probably benign Het
CK137956 T A 4: 127,946,649 K421N probably damaging Het
Coro2b G A 9: 62,431,357 T193I possibly damaging Het
Dido1 G A 2: 180,684,031 probably benign Het
Fas A G 19: 34,318,603 T149A probably benign Het
Gbp4 T A 5: 105,125,602 I121F probably damaging Het
Hes3 C T 4: 152,287,100 A106T probably damaging Het
Hyal2 T C 9: 107,570,906 Y253H probably damaging Het
Kcnt1 T C 2: 25,912,719 probably null Het
Klhl12 C A 1: 134,489,420 R557S probably damaging Het
Kmt2c T C 5: 25,395,455 T315A probably benign Het
Mchr1 A G 15: 81,237,865 Y272C probably damaging Het
Mroh7 T C 4: 106,680,874 I1202V probably benign Het
Mrpl38 T A 11: 116,135,314 K87* probably null Het
Msh6 A G 17: 87,985,712 T632A probably damaging Het
Myo9b T C 8: 71,356,318 I1767T probably damaging Het
Myo9b C A 8: 71,355,257 H1630Q possibly damaging Het
Naprt A G 15: 75,893,799 F92S probably damaging Het
Nsd3 T A 8: 25,640,652 I11N probably damaging Het
Olfr290 A G 7: 84,916,652 Y291C probably damaging Het
Otof T C 5: 30,399,220 T306A probably damaging Het
Pcdh18 A G 3: 49,756,830 F12S probably benign Het
Pcdhb12 A T 18: 37,437,639 N613Y probably damaging Het
Polr1a T C 6: 71,948,462 I731T probably benign Het
Ptprd G A 4: 76,128,595 T465I probably damaging Het
Rabgap1 A G 2: 37,564,761 probably benign Het
Ryr2 T A 13: 11,595,425 I607L possibly damaging Het
Slc39a9 G A 12: 80,673,299 probably benign Het
Srek1 C A 13: 103,748,785 probably benign Het
Ssb A G 2: 69,870,803 T377A possibly damaging Het
Sympk G T 7: 19,043,435 A537S probably benign Het
Tcf20 A G 15: 82,855,697 S518P probably damaging Het
Ttc39d A G 17: 80,216,046 K45E probably benign Het
Vmn1r40 T C 6: 89,714,572 F124L possibly damaging Het
Vmn2r69 A G 7: 85,412,368 Y133H probably damaging Het
Vmn2r79 A T 7: 87,037,146 E578D probably benign Het
Vwf G A 6: 125,590,170 probably benign Het
Zbtb11 A G 16: 55,991,008 N510D probably benign Het
Other mutations in Cd2ap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00674:Cd2ap APN 17 42808785 missense probably benign 0.16
IGL00909:Cd2ap APN 17 42830114 splice site probably benign
IGL01321:Cd2ap APN 17 42845389 missense possibly damaging 0.71
IGL01350:Cd2ap APN 17 42825921 nonsense probably null
IGL01485:Cd2ap APN 17 42852474 missense probably damaging 1.00
IGL01834:Cd2ap APN 17 42826361 critical splice acceptor site probably null
PIT4494001:Cd2ap UTSW 17 42852367 critical splice donor site probably null
R0014:Cd2ap UTSW 17 42807928 missense probably benign
R0331:Cd2ap UTSW 17 42805301 missense probably benign 0.06
R0674:Cd2ap UTSW 17 42845392 missense possibly damaging 0.89
R1471:Cd2ap UTSW 17 42820597 missense probably benign 0.00
R1806:Cd2ap UTSW 17 42838758 nonsense probably null
R3858:Cd2ap UTSW 17 42816572 nonsense probably null
R3911:Cd2ap UTSW 17 42816089 critical splice acceptor site probably null
R3941:Cd2ap UTSW 17 42808799 missense probably damaging 0.99
R4766:Cd2ap UTSW 17 42852459 missense probably damaging 0.99
R5024:Cd2ap UTSW 17 42805345 splice site probably null
R5045:Cd2ap UTSW 17 42807960 missense probably benign 0.01
R6051:Cd2ap UTSW 17 42796328 makesense probably null
R6063:Cd2ap UTSW 17 42825911 missense probably benign 0.00
R7034:Cd2ap UTSW 17 42798599 missense probably damaging 1.00
R7036:Cd2ap UTSW 17 42798599 missense probably damaging 1.00
R7214:Cd2ap UTSW 17 42845394 missense possibly damaging 0.61
R7299:Cd2ap UTSW 17 42830013 nonsense probably null
R7301:Cd2ap UTSW 17 42830013 nonsense probably null
R7402:Cd2ap UTSW 17 42805163 missense possibly damaging 0.88
R7851:Cd2ap UTSW 17 42824472 critical splice donor site probably null
R7934:Cd2ap UTSW 17 42824472 critical splice donor site probably null
Z1088:Cd2ap UTSW 17 42807993 missense probably benign
Posted On2014-02-04