Incidental Mutation 'R5045:Cd2ap'
ID 394353
Institutional Source Beutler Lab
Gene Symbol Cd2ap
Ensembl Gene ENSMUSG00000061665
Gene Name CD2-associated protein
Synonyms Mets1, METS-1
MMRRC Submission 042635-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5045 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 43103842-43187556 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43118851 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 529 (N529S)
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 probably benign
Transcript: ENSMUST00000024709
AA Change: N529S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000024709
Gene: ENSMUSG00000061665
AA Change: N529S

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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810062G17Rik T C 3: 36,530,327 (GRCm39) probably benign Het
2210408I21Rik A G 13: 77,415,927 (GRCm39) probably null Het
4930519P11Rik A T 2: 154,454,950 (GRCm39) C136* probably null Het
4930519P11Rik G T 2: 154,454,982 (GRCm39) probably benign Het
Adgrb3 T A 1: 25,113,860 (GRCm39) H1189L probably damaging Het
Arhgap24 A G 5: 103,039,743 (GRCm39) I227V possibly damaging Het
Arhgap29 C A 3: 121,796,244 (GRCm39) N445K probably benign Het
Atp13a3 T C 16: 30,158,694 (GRCm39) H811R probably benign Het
Cdh20 T A 1: 110,026,080 (GRCm39) S439T probably benign Het
Ces3a G T 8: 105,777,248 (GRCm39) probably null Het
Cftr T A 6: 18,230,080 (GRCm39) N408K probably benign Het
Chil5 T C 3: 105,931,456 (GRCm39) N136S possibly damaging Het
Col20a1 A G 2: 180,648,638 (GRCm39) D933G probably damaging Het
Crh A T 3: 19,748,153 (GRCm39) L163* probably null Het
Ctps1 A C 4: 120,410,075 (GRCm39) probably null Het
Cyb5d2 A G 11: 72,686,401 (GRCm39) V63A probably damaging Het
Cyp2d11 T A 15: 82,275,272 (GRCm39) probably null Het
Dclk3 A T 9: 111,296,856 (GRCm39) E133D probably damaging Het
Dhrs9 A G 2: 69,223,339 (GRCm39) D29G probably benign Het
Disp2 G A 2: 118,622,543 (GRCm39) E1092K probably benign Het
Enpp3 A G 10: 24,652,665 (GRCm39) I764T probably damaging Het
Epm2aip1 C A 9: 111,102,427 (GRCm39) R467S possibly damaging Het
Fam20a T C 11: 109,568,711 (GRCm39) I272V probably benign Het
Fgb T C 3: 82,950,680 (GRCm39) Y358C probably damaging Het
Gm11596 A T 11: 99,683,695 (GRCm39) S142T unknown Het
Golga4 A G 9: 118,394,724 (GRCm39) T9A probably benign Het
Hmcn2 C T 2: 31,299,093 (GRCm39) P2813L probably damaging Het
Ighv1-9 C T 12: 114,547,440 (GRCm39) G34R probably damaging Het
Kalrn A C 16: 34,134,722 (GRCm39) Y353* probably null Het
Klrk1 T C 6: 129,594,466 (GRCm39) Y42C probably benign Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Mbtd1 T C 11: 93,822,641 (GRCm39) Y484H probably benign Het
Mki67 T C 7: 135,309,633 (GRCm39) R273G possibly damaging Het
Myh11 A T 16: 14,057,391 (GRCm39) L308* probably null Het
Nacc2 G A 2: 25,980,150 (GRCm39) probably null Het
Nadsyn1 A G 7: 143,360,706 (GRCm39) L354P probably damaging Het
Ntrk3 T A 7: 78,110,172 (GRCm39) Q354L probably benign Het
Or10ag58 A T 2: 87,265,490 (GRCm39) I220L probably damaging Het
Or52r1c G A 7: 102,735,664 (GRCm39) G308E probably benign Het
Phactr3 T C 2: 177,973,412 (GRCm39) I470T probably damaging Het
Pkd1l3 C T 8: 110,349,787 (GRCm39) P211S unknown Het
Potefam1 T A 2: 111,023,804 (GRCm39) Q110L unknown Het
Prickle2 T C 6: 92,353,375 (GRCm39) D753G probably damaging Het
Prr12 A G 7: 44,699,318 (GRCm39) probably benign Het
Psd3 T C 8: 68,166,477 (GRCm39) E917G probably damaging Het
Rgsl1 T A 1: 153,697,268 (GRCm39) K551* probably null Het
Stag3 T C 5: 138,302,740 (GRCm39) L1033P probably damaging Het
Tcaf3 T A 6: 42,570,618 (GRCm39) Q378L possibly damaging Het
Tdpoz8 G T 3: 92,981,524 (GRCm39) D181Y probably damaging Het
Tespa1 A T 10: 130,197,904 (GRCm39) K309* probably null Het
Trim69 A G 2: 122,004,727 (GRCm39) T275A probably benign Het
Txndc17 T C 11: 72,098,537 (GRCm39) Y30H probably damaging Het
Ugt2a2 A T 5: 87,622,751 (GRCm39) F72L probably damaging Het
Vmn2r59 A T 7: 41,695,496 (GRCm39) D305E possibly damaging Het
Vmn2r71 A G 7: 85,273,597 (GRCm39) I804V probably benign Het
Zfy2 T C Y: 2,107,159 (GRCm39) K492E possibly damaging Het
Zkscan1 A G 5: 138,099,182 (GRCm39) H375R probably damaging Het
Other mutations in Cd2ap
AlleleSourceChrCoordTypePredicted EffectPPH 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
IGL01321:Cd2ap APN 17 43,156,280 (GRCm39) missense possibly damaging 0.71
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
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
Predicted Primers PCR Primer
(F):5'- CCTAAGAGCTACAGAAGACAGTGTG -3'
(R):5'- TTGTCCACAGCAGTAAACAGCAG -3'

Sequencing Primer
(F):5'- ACAGTGTGTCTTAAGCTTAATAATGC -3'
(R):5'- GTTTAACATTTAGCCAACCCAA -3'
Posted On 2016-06-15