Incidental Mutation 'R7301:Cd2ap'
ID 567016
Institutional Source Beutler Lab
Gene Symbol Cd2ap
Ensembl Gene ENSMUSG00000061665
Gene Name CD2-associated protein
Synonyms Mets1, METS-1
MMRRC Submission 045405-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7301 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 43103842-43187556 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 43140904 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 212 (R212*)
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 null
Transcript: ENSMUST00000024709
AA Change: R212*
SMART Domains Protein: ENSMUSP00000024709
Gene: ENSMUSG00000061665
AA Change: R212*

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm3 G A 7: 119,376,308 (GRCm39) S345N possibly damaging Het
Agk A T 6: 40,306,451 (GRCm39) T7S possibly damaging Het
Ankrd26 T C 6: 118,488,624 (GRCm39) E1345G possibly damaging Het
Atp1a3 T A 7: 24,689,940 (GRCm39) Y493F probably benign Het
Atxn2l G T 7: 126,093,383 (GRCm39) Y791* probably null Het
Cacng8 C A 7: 3,463,937 (GRCm39) T363K probably benign Het
Camkmt A G 17: 85,738,921 (GRCm39) T216A probably benign Het
Cnppd1 A G 1: 75,113,068 (GRCm39) L400P probably damaging Het
Csmd2 C A 4: 128,422,055 (GRCm39) D2797E Het
Ddx24 A G 12: 103,385,709 (GRCm39) M298T possibly damaging Het
Dpyd T C 3: 118,692,933 (GRCm39) V359A possibly damaging Het
Dscam T C 16: 96,857,732 (GRCm39) T93A probably benign Het
Eif2b3 T A 4: 116,910,019 (GRCm39) S185T probably benign Het
Entpd2 T A 2: 25,290,921 (GRCm39) I475N possibly damaging Het
Ercc2 C A 7: 19,128,060 (GRCm39) Q715K probably benign Het
Fam186b T C 15: 99,176,629 (GRCm39) R754G probably benign Het
Fcgbp T A 7: 27,792,861 (GRCm39) V955E possibly damaging Het
Frrs1 T C 3: 116,689,212 (GRCm39) V361A possibly damaging Het
Gabrr2 T A 4: 33,095,284 (GRCm39) M391K probably benign Het
Gm3409 T A 5: 146,476,357 (GRCm39) D169E probably benign Het
Gm4779 TCGGGGCCGGGGCCGGGGCCG TCGGGGCCGGGGCCGGGGCCGGGGCCG X: 100,837,777 (GRCm39) probably benign Het
Greb1l C G 18: 10,544,970 (GRCm39) Q1433E probably damaging Het
Hal T C 10: 93,328,423 (GRCm39) V233A probably benign Het
Ighv1-58 A T 12: 115,275,915 (GRCm39) N74K probably benign Het
Il12rb1 A G 8: 71,266,343 (GRCm39) I229M possibly damaging Het
Il17rd T C 14: 26,798,348 (GRCm39) I56T possibly damaging Het
Itpr1 T C 6: 108,518,985 (GRCm39) V2708A possibly damaging Het
Klhl38 G A 15: 58,186,376 (GRCm39) R118W probably damaging Het
Lmf2 C A 15: 89,239,733 (GRCm39) probably benign Het
Lrrc3b T C 14: 15,357,934 (GRCm38) Y224C probably damaging Het
Med1 A C 11: 98,043,634 (GRCm39) F599C probably benign Het
Mrgprb4 A G 7: 47,848,506 (GRCm39) S141P probably damaging Het
Mst1r G T 9: 107,791,989 (GRCm39) A842S possibly damaging Het
Myo3a T C 2: 22,436,504 (GRCm39) probably null Het
Nos1 A T 5: 118,005,970 (GRCm39) D230V possibly damaging Het
Nppb T C 4: 148,070,780 (GRCm39) S52P probably benign Het
Nqo1 A G 8: 108,119,280 (GRCm39) I99T probably damaging Het
Or1j17 T A 2: 36,578,023 (GRCm39) M3K probably benign Het
Or6c2b T C 10: 128,947,568 (GRCm39) H242R probably damaging Het
Pabir1 T A 19: 24,454,488 (GRCm39) H78L probably benign Het
Pabir1 T A 19: 24,454,710 (GRCm39) E4V probably damaging Het
Pcdha3 G A 18: 37,079,977 (GRCm39) E240K possibly damaging Het
Plpp7 T G 2: 31,986,067 (GRCm39) F82V probably benign Het
Podxl G T 6: 31,501,371 (GRCm39) P395T probably damaging Het
Prr5l T A 2: 101,547,631 (GRCm39) D298V probably damaging Het
Rad9b A G 5: 122,490,677 (GRCm39) V13A possibly damaging Het
Rasl2-9 A G 7: 5,128,739 (GRCm39) W64R probably damaging Het
Rilp G T 11: 75,400,942 (GRCm39) probably benign Het
Ripor2 T C 13: 24,908,984 (GRCm39) I1034T possibly damaging Het
Rtn4ip1 T C 10: 43,812,016 (GRCm39) Y338H probably damaging Het
Shisa5 G T 9: 108,883,952 (GRCm39) probably benign Het
Slc27a4 C T 2: 29,702,944 (GRCm39) T591I probably null Het
Snx24 G T 18: 53,473,244 (GRCm39) V63F probably damaging Het
Spata31f1e T C 4: 42,792,923 (GRCm39) N403S possibly damaging Het
Sptbn1 A T 11: 30,067,798 (GRCm39) Y1805* probably null Het
Svep1 G A 4: 58,046,587 (GRCm39) Q3515* probably null Het
Synpo2 A C 3: 122,907,702 (GRCm39) M538R probably benign Het
Tfap2a T C 13: 40,874,784 (GRCm39) K276E probably damaging Het
Tmem158 C A 9: 123,089,366 (GRCm39) S82I probably damaging Het
Tmtc3 G T 10: 100,283,336 (GRCm39) H740N not run Het
Top3a A T 11: 60,638,974 (GRCm39) F559I probably damaging Het
Tysnd1 C A 10: 61,532,328 (GRCm39) P327T possibly damaging Het
Ulk4 T A 9: 120,974,125 (GRCm39) D969V probably benign Het
Vcan T A 13: 89,853,385 (GRCm39) Y525F probably benign Het
Vmn1r127 A G 7: 21,052,978 (GRCm39) F270S probably benign Het
Vmn1r204 G A 13: 22,740,975 (GRCm39) S202N probably damaging Het
Vmn2r107 A G 17: 20,565,878 (GRCm39) I64M probably benign Het
Zfp280b C G 10: 75,874,537 (GRCm39) Q139E probably damaging Het
Zfp322a C A 13: 23,541,313 (GRCm39) G143V probably damaging Het
Zfp322a C T 13: 23,541,314 (GRCm39) G143S probably benign Het
Zfyve26 A T 12: 79,329,758 (GRCm39) V476D probably benign Het
Zkscan6 A T 11: 65,719,051 (GRCm39) H357L probably benign 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
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
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'- GGAATCTGTGCTTACCTGAGC -3'
(R):5'- AGTGCTTGTCTCCTGAATTTCTTAG -3'

Sequencing Primer
(F):5'- TTGACTTCCCTCAATAACAGACTGAG -3'
(R):5'- CTCTAGGATGTTTGAGTGCCATG -3'
Posted On 2019-06-26