Incidental Mutation 'IGL01459:Cdh5'
ID 87929
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdh5
Ensembl Gene ENSMUSG00000031871
Gene Name cadherin 5
Synonyms VECD, CD144, VEcad, VEC, VE-cadherin, 7B4/cadherin-5, VE-Cad
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01459
Quality Score
Status
Chromosome 8
Chromosomal Location 104828257-104871143 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 104864449 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 470 (D470V)
Ref Sequence ENSEMBL: ENSMUSP00000034339 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034339]
AlphaFold P55284
PDB Structure NMR structure of mouse Par3-PDZ3 in complex with VE-Cadherin C-terminus [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000034339
AA Change: D470V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034339
Gene: ENSMUSG00000031871
AA Change: D470V

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
CA 66 147 3.03e-10 SMART
CA 171 254 3.19e-18 SMART
CA 278 370 7.92e-14 SMART
CA 392 476 1.09e-16 SMART
CA 499 583 2.16e-6 SMART
transmembrane domain 598 620 N/A INTRINSIC
Pfam:Cadherin_C 625 776 1.1e-43 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the cadherin family of calcium-dependent glycoproteins that mediate cell adhesion and regulate many morphogenetic events during development. The encoded preproprotein is further processed to generate a mature protein. Mice lacking the encoded protein die in utero due to vascular insufficiency, caused by increased endothelial apoptosis. Multiple distinct genes of the cadherin family, including this gene, are found on chromosome 8. [provided by RefSeq, Oct 2015]
PHENOTYPE: Homozygous inactivation or cytosolic truncation of this gene causes embryonic growth retardation, abnormal somite and heart development, impaired remodeling and maturation of endothelial cells, increased endothelial apoptosis and severe vascular defects leading to embryonic death at midgestation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp2a2 A G 5: 122,607,715 (GRCm39) S265P probably benign Het
Brwd1 A G 16: 95,848,620 (GRCm39) F520L probably damaging Het
Cdr2l A G 11: 115,281,378 (GRCm39) R41G probably damaging Het
Csrnp1 C T 9: 119,802,024 (GRCm39) C345Y probably damaging Het
Dscaml1 T A 9: 45,653,981 (GRCm39) Y1419* probably null Het
Entpd3 T C 9: 120,391,007 (GRCm39) S420P probably damaging Het
Epb41 A G 4: 131,691,439 (GRCm39) probably benign Het
Erg A G 16: 95,162,141 (GRCm39) S322P probably damaging Het
Fndc3b T A 3: 27,515,889 (GRCm39) H639L probably benign Het
Grwd1 C T 7: 45,479,834 (GRCm39) probably null Het
Kbtbd8 A G 6: 95,099,789 (GRCm39) N356D probably benign Het
Kif15 A G 9: 122,804,820 (GRCm39) E189G probably damaging Het
Kif2b T C 11: 91,467,849 (GRCm39) K145E possibly damaging Het
Kif5c A G 2: 49,625,569 (GRCm39) D613G probably benign Het
Lipe T G 7: 25,082,967 (GRCm39) Q457P probably damaging Het
Lrp1b A T 2: 40,750,726 (GRCm39) I2946N probably damaging Het
Mtf2 C T 5: 108,228,809 (GRCm39) P42S probably damaging Het
Neb A G 2: 52,066,804 (GRCm39) S5886P probably damaging Het
Nmu A G 5: 76,506,196 (GRCm39) probably null Het
Nup153 T C 13: 46,866,402 (GRCm39) E214G possibly damaging Het
Or14c44 A C 7: 86,061,759 (GRCm39) N104T probably damaging Het
Or6c66b G A 10: 129,376,410 (GRCm39) M1I probably null Het
Paqr3 T C 5: 97,243,796 (GRCm39) D306G probably benign Het
Plxna2 A G 1: 194,446,878 (GRCm39) D796G probably benign Het
Prkra A G 2: 76,460,780 (GRCm39) L306S probably damaging Het
Psg20 T A 7: 18,416,638 (GRCm39) E159D probably damaging Het
Ptchd3 G T 11: 121,721,246 (GRCm39) V40L probably benign Het
Rfx5 T C 3: 94,865,086 (GRCm39) probably benign Het
Rimbp2 A G 5: 128,865,275 (GRCm39) probably null Het
Slc22a4 C A 11: 53,877,303 (GRCm39) probably null Het
Tars1 A G 15: 11,391,940 (GRCm39) V265A possibly damaging Het
Tatdn2 T A 6: 113,686,992 (GRCm39) probably null Het
Tenm4 C T 7: 96,378,592 (GRCm39) P399L probably damaging Het
Tmem135 A T 7: 88,800,646 (GRCm39) D325E probably damaging Het
Tmprss7 A T 16: 45,483,706 (GRCm39) I556N probably benign Het
Tom1l2 C T 11: 60,171,095 (GRCm39) G23S probably damaging Het
Ubr2 A G 17: 47,241,435 (GRCm39) probably benign Het
Vmn1r197 T C 13: 22,512,241 (GRCm39) I54T probably benign Het
Vmn2r116 T C 17: 23,603,903 (GRCm39) C43R probably damaging Het
Vps33a A G 5: 123,673,371 (GRCm39) L405P probably benign Het
Zfp473 C T 7: 44,388,987 (GRCm39) D45N probably damaging Het
Other mutations in Cdh5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02506:Cdh5 APN 8 104,864,454 (GRCm39) missense probably damaging 1.00
IGL02737:Cdh5 APN 8 104,869,560 (GRCm39) missense probably damaging 1.00
IGL03287:Cdh5 APN 8 104,854,747 (GRCm39) missense probably damaging 1.00
IGL03297:Cdh5 APN 8 104,854,831 (GRCm39) missense probably damaging 1.00
R0015:Cdh5 UTSW 8 104,867,559 (GRCm39) missense probably benign
R0015:Cdh5 UTSW 8 104,867,559 (GRCm39) missense probably benign
R0126:Cdh5 UTSW 8 104,867,314 (GRCm39) critical splice acceptor site probably null
R0167:Cdh5 UTSW 8 104,863,367 (GRCm39) missense possibly damaging 0.51
R0592:Cdh5 UTSW 8 104,857,534 (GRCm39) splice site probably null
R1760:Cdh5 UTSW 8 104,854,801 (GRCm39) missense probably benign
R1826:Cdh5 UTSW 8 104,857,723 (GRCm39) missense possibly damaging 0.93
R1827:Cdh5 UTSW 8 104,839,541 (GRCm39) missense possibly damaging 0.96
R1840:Cdh5 UTSW 8 104,853,248 (GRCm39) nonsense probably null
R1993:Cdh5 UTSW 8 104,864,447 (GRCm39) missense probably damaging 0.97
R2219:Cdh5 UTSW 8 104,869,538 (GRCm39) missense possibly damaging 0.94
R2239:Cdh5 UTSW 8 104,852,304 (GRCm39) missense possibly damaging 0.54
R2281:Cdh5 UTSW 8 104,852,365 (GRCm39) missense probably damaging 1.00
R2380:Cdh5 UTSW 8 104,852,304 (GRCm39) missense possibly damaging 0.54
R3418:Cdh5 UTSW 8 104,856,002 (GRCm39) missense probably damaging 0.98
R3419:Cdh5 UTSW 8 104,856,002 (GRCm39) missense probably damaging 0.98
R3429:Cdh5 UTSW 8 104,857,600 (GRCm39) missense possibly damaging 0.91
R4491:Cdh5 UTSW 8 104,839,672 (GRCm39) missense probably damaging 1.00
R4823:Cdh5 UTSW 8 104,869,301 (GRCm39) missense probably benign 0.00
R5071:Cdh5 UTSW 8 104,867,334 (GRCm39) missense probably damaging 0.99
R5265:Cdh5 UTSW 8 104,869,371 (GRCm39) missense probably benign 0.00
R5383:Cdh5 UTSW 8 104,864,479 (GRCm39) missense probably benign 0.17
R5447:Cdh5 UTSW 8 104,855,994 (GRCm39) missense probably damaging 0.99
R5580:Cdh5 UTSW 8 104,852,126 (GRCm39) nonsense probably null
R5876:Cdh5 UTSW 8 104,869,209 (GRCm39) missense probably damaging 1.00
R5934:Cdh5 UTSW 8 104,864,900 (GRCm39) missense probably benign 0.00
R6378:Cdh5 UTSW 8 104,853,168 (GRCm39) splice site probably null
R7110:Cdh5 UTSW 8 104,867,400 (GRCm39) missense probably damaging 1.00
R7141:Cdh5 UTSW 8 104,839,633 (GRCm39) missense probably benign 0.20
R7324:Cdh5 UTSW 8 104,869,425 (GRCm39) missense probably damaging 1.00
R7658:Cdh5 UTSW 8 104,856,033 (GRCm39) critical splice donor site probably null
R7806:Cdh5 UTSW 8 104,867,448 (GRCm39) missense probably damaging 0.98
R7811:Cdh5 UTSW 8 104,852,235 (GRCm39) missense possibly damaging 0.72
R7958:Cdh5 UTSW 8 104,839,649 (GRCm39) missense probably benign 0.01
R8270:Cdh5 UTSW 8 104,839,672 (GRCm39) missense probably benign 0.11
R8424:Cdh5 UTSW 8 104,856,003 (GRCm39) missense probably benign 0.00
R8432:Cdh5 UTSW 8 104,839,698 (GRCm39) missense probably damaging 1.00
R8888:Cdh5 UTSW 8 104,852,092 (GRCm39) missense possibly damaging 0.95
R9190:Cdh5 UTSW 8 104,867,337 (GRCm39) missense probably damaging 1.00
R9738:Cdh5 UTSW 8 104,863,329 (GRCm39) missense probably damaging 0.99
X0067:Cdh5 UTSW 8 104,869,169 (GRCm39) missense probably damaging 0.96
Posted On 2013-11-18