Incidental Mutation 'R3418:Cdh5'
ID 266906
Institutional Source Beutler Lab
Gene Symbol Cdh5
Ensembl Gene ENSMUSG00000031871
Gene Name cadherin 5
Synonyms VECD, CD144, VEcad, VEC, VE-cadherin, 7B4/cadherin-5, VE-Cad
MMRRC Submission 040636-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3418 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 104828257-104871143 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 104856002 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 312 (R312C)
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: R312C

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000034339
Gene: ENSMUSG00000031871
AA Change: R312C

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.6%
Validation Efficiency 98% (61/62)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5530400C23Rik A G 6: 133,271,082 (GRCm39) Q42R probably benign Het
Acaa1a A G 9: 119,178,556 (GRCm39) probably null Het
Agbl5 T C 5: 31,062,067 (GRCm39) S756P probably damaging Het
Armc9 T C 1: 86,122,060 (GRCm39) L395P probably damaging Het
Cdc16 C T 8: 13,819,489 (GRCm39) Q362* probably null Het
Cep170b C T 12: 112,704,902 (GRCm39) Q887* probably null Het
Chd9 T C 8: 91,763,219 (GRCm39) I2348T probably damaging Het
Clec9a A G 6: 129,398,001 (GRCm39) probably benign Het
Col6a3 T C 1: 90,731,813 (GRCm39) D873G probably benign Het
D130040H23Rik T C 8: 69,755,579 (GRCm39) I328T probably benign Het
Dido1 G T 2: 180,302,728 (GRCm39) D1725E possibly damaging Het
Dnajb14 A G 3: 137,598,631 (GRCm39) D123G probably null Het
Dock2 A T 11: 34,580,587 (GRCm39) M661K probably damaging Het
Esam C T 9: 37,448,426 (GRCm39) probably null Het
Fam20c A T 5: 138,743,623 (GRCm39) N220Y probably damaging Het
Fat2 G T 11: 55,169,824 (GRCm39) H2978Q probably benign Het
Fbn1 T C 2: 125,162,846 (GRCm39) T2147A possibly damaging Het
Fdft1 T C 14: 63,394,070 (GRCm39) T214A probably damaging Het
Fhl5 T C 4: 25,211,252 (GRCm39) S147G probably benign Het
Flrt2 A G 12: 95,747,378 (GRCm39) Y572C probably damaging Het
Gcat A T 15: 78,926,297 (GRCm39) T56S possibly damaging Het
Gemin5 A T 11: 58,047,454 (GRCm39) probably null Het
Gm4736 A T 6: 132,092,640 (GRCm39) noncoding transcript Het
Grin2b T C 6: 135,820,108 (GRCm39) N368S probably benign Het
Gsto1 T C 19: 47,846,344 (GRCm39) F64L probably benign Het
Gucy1a1 A G 3: 82,013,440 (GRCm39) S401P probably damaging Het
Htr1f G A 16: 64,746,260 (GRCm39) P344L probably damaging Het
Ighv7-3 T A 12: 114,116,919 (GRCm39) Y81F probably damaging Het
Jakmip3 C A 7: 138,619,474 (GRCm39) probably benign Het
Kcnj13 T C 1: 87,314,641 (GRCm39) T194A probably benign Het
Khdrbs3 T C 15: 68,921,224 (GRCm39) probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lyn A T 4: 3,746,833 (GRCm39) I204F probably damaging Het
Mbd6 C G 10: 127,122,372 (GRCm39) R152P probably null Het
Myof A G 19: 37,911,426 (GRCm39) S1502P probably damaging Het
Myom2 T G 8: 15,135,294 (GRCm39) I499S probably benign Het
Nos2 T A 11: 78,850,521 (GRCm39) F1126L possibly damaging Het
Or3a4 G A 11: 73,944,814 (GRCm39) T257I probably damaging Het
P2ry1 T C 3: 60,911,133 (GRCm39) F91L probably damaging Het
Pcdh15 C A 10: 74,420,054 (GRCm39) D1166E probably benign Het
Pou6f1 C A 15: 100,478,805 (GRCm39) V368L probably benign Het
Ptcd3 A T 6: 71,860,470 (GRCm39) I579K possibly damaging Het
Rbm45 A G 2: 76,209,362 (GRCm39) E392G probably damaging Het
Rnf168 A G 16: 32,118,010 (GRCm39) N524D probably benign Het
Rnf222 G T 11: 68,783,982 (GRCm39) R183L probably damaging Het
Robo1 C T 16: 72,832,805 (GRCm39) T1526I probably benign Het
Sel1l A G 12: 91,776,776 (GRCm39) W689R probably damaging Het
Serpinb13 T C 1: 106,926,657 (GRCm39) S218P probably damaging Het
Serpini1 A G 3: 75,547,589 (GRCm39) Y367C probably damaging Het
Slc13a2 A G 11: 78,291,666 (GRCm39) F329S probably benign Het
Smc2 T C 4: 52,476,850 (GRCm39) probably benign Het
Sycp2 A T 2: 178,043,446 (GRCm39) probably benign Het
Tab2 G A 10: 7,783,245 (GRCm39) P679L probably damaging Het
Tdrd1 T A 19: 56,819,663 (GRCm39) N54K possibly damaging Het
Tgfbr2 T C 9: 115,958,901 (GRCm39) Y146C probably damaging Het
Tnfrsf11a A G 1: 105,737,130 (GRCm39) D79G possibly damaging Het
Trpa1 T C 1: 14,944,605 (GRCm39) I1046M probably benign Het
Ubn1 A G 16: 4,892,243 (GRCm39) probably benign Het
Ubp1 T C 9: 113,780,754 (GRCm39) probably null Het
Vmn2r2 A T 3: 64,024,320 (GRCm39) F754I probably benign Het
Other mutations in Cdh5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01459:Cdh5 APN 8 104,864,449 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- AACTCTTTGCGGTATCCTATGC -3'
(R):5'- ATCTCTGGAACAATTCAGGCTGAG -3'

Sequencing Primer
(F):5'- GCGGTATCCTATGCACATTAGC -3'
(R):5'- GGGTTACAGTCTCCACGAGTTC -3'
Posted On 2015-02-18