Incidental Mutation 'R1827:Cdh5'
ID 206920
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 039854-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1827 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 104828257-104871143 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 104839541 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 4 (L4P)
Ref Sequence ENSEMBL: ENSMUSP00000034339 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034339] [ENSMUST00000209911]
AlphaFold P55284
PDB Structure NMR structure of mouse Par3-PDZ3 in complex with VE-Cadherin C-terminus [SOLUTION NMR]
Predicted Effect possibly damaging
Transcript: ENSMUST00000034339
AA Change: L4P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000034339
Gene: ENSMUSG00000031871
AA Change: L4P

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
Predicted Effect unknown
Transcript: ENSMUST00000209911
AA Change: L4P
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.0%
  • 20x: 91.6%
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadsb G C 7: 131,043,004 (GRCm39) R355T probably damaging Het
Ackr2 C T 9: 121,738,581 (GRCm39) R319C probably benign Het
Acot4 G A 12: 84,088,712 (GRCm39) A187T probably damaging Het
Adgrb2 A C 4: 129,906,350 (GRCm39) Q926P probably damaging Het
Adgrb3 T C 1: 25,571,658 (GRCm39) T420A probably damaging Het
Adra1b A T 11: 43,726,476 (GRCm39) V147E probably damaging Het
Bco1 A G 8: 117,832,498 (GRCm39) Y98C probably damaging Het
Car5a C T 8: 122,650,547 (GRCm39) V166M probably benign Het
Clec12a A G 6: 129,330,762 (GRCm39) T115A probably damaging Het
Cmya5 G A 13: 93,210,956 (GRCm39) T3279I possibly damaging Het
Col4a4 C T 1: 82,517,709 (GRCm39) G105D unknown Het
Cyp2d34 A T 15: 82,500,295 (GRCm39) H481Q probably benign Het
Dhx15 A T 5: 52,327,422 (GRCm39) C307* probably null Het
Dnah9 A G 11: 65,740,887 (GRCm39) Y4100H probably damaging Het
Dock10 T C 1: 80,508,009 (GRCm39) N1647S probably benign Het
Duox1 T A 2: 122,177,861 (GRCm39) Y1548* probably null Het
Esyt1 T C 10: 128,352,238 (GRCm39) E763G probably benign Het
Fbh1 G T 2: 11,768,699 (GRCm39) D332E possibly damaging Het
Fndc8 G A 11: 82,790,355 (GRCm39) V275M probably damaging Het
Focad T G 4: 88,147,620 (GRCm39) Y420D probably benign Het
Gml A T 15: 74,688,280 (GRCm39) H62Q probably benign Het
Gpr158 A T 2: 21,832,129 (GRCm39) L1076F probably benign Het
Gpr161 A G 1: 165,134,136 (GRCm39) T133A possibly damaging Het
Gpr83 G T 9: 14,779,629 (GRCm39) C269F possibly damaging Het
Gsg1l A T 7: 125,509,369 (GRCm39) I256K possibly damaging Het
Hao1 T A 2: 134,372,584 (GRCm39) R141S probably benign Het
Hnf1a G A 5: 115,098,254 (GRCm39) A116V probably damaging Het
Hrh4 A T 18: 13,155,261 (GRCm39) T267S probably damaging Het
Igfals A T 17: 25,099,278 (GRCm39) N123I probably benign Het
Iglon5 T A 7: 43,128,545 (GRCm39) T91S probably benign Het
Impg2 A T 16: 56,087,583 (GRCm39) N1134I possibly damaging Het
Incenp A G 19: 9,850,093 (GRCm39) V860A possibly damaging Het
Irf5 A T 6: 29,536,672 (GRCm39) H461L possibly damaging Het
Itpr2 A G 6: 146,229,830 (GRCm39) L1255P probably damaging Het
Kank2 A G 9: 21,706,761 (GRCm39) S86P probably damaging Het
Kcnma1 C A 14: 23,380,997 (GRCm39) D903Y probably damaging Het
Kcnn3 A T 3: 89,428,301 (GRCm39) M176L possibly damaging Het
Mccc1 A T 3: 36,039,150 (GRCm39) I281N probably damaging Het
Mms19 G A 19: 41,942,116 (GRCm39) A584V probably benign Het
Mon2 A T 10: 122,882,216 (GRCm39) D184E probably damaging Het
Mrpl1 T C 5: 96,374,202 (GRCm39) V159A possibly damaging Het
Mtrex C A 13: 113,049,633 (GRCm39) probably null Het
Myo18a C T 11: 77,709,597 (GRCm39) T190I probably benign Het
Myo7a A T 7: 97,725,938 (GRCm39) M1038K probably damaging Het
Myrfl T A 10: 116,668,852 (GRCm39) I304F probably damaging Het
Neo1 G A 9: 58,824,314 (GRCm39) R705* probably null Het
Nfat5 T C 8: 108,093,966 (GRCm39) S736P probably benign Het
Nlrp4c C T 7: 6,068,765 (GRCm39) P222L probably damaging Het
Nmt1 T A 11: 102,955,664 (GRCm39) W481R probably damaging Het
Ntrk3 T A 7: 77,897,049 (GRCm39) I663L probably damaging Het
Nup210l A T 3: 90,061,864 (GRCm39) E681V probably damaging Het
Nxpe2 T C 9: 48,237,914 (GRCm39) T114A probably damaging Het
Or4c105 A T 2: 88,648,402 (GRCm39) I296F probably benign Het
Or55b3 A G 7: 102,126,720 (GRCm39) L119P probably damaging Het
Or56b1b A T 7: 108,164,282 (GRCm39) V240D probably benign Het
Pald1 ATGCTGCTGCTGCTGC ATGCTGCTGCTGC 10: 61,191,701 (GRCm39) probably benign Het
Ppm1e T C 11: 87,122,521 (GRCm39) T479A probably damaging Het
Ppp1r7 A G 1: 93,288,518 (GRCm39) E298G probably benign Het
Pramel29 G A 4: 143,936,180 (GRCm39) P27S probably damaging Het
Prkaca T C 8: 84,717,616 (GRCm39) probably null Het
Prss36 A G 7: 127,532,664 (GRCm39) V718A probably damaging Het
Pxk C T 14: 8,151,507 (GRCm38) R441* probably null Het
Rnf182 G A 13: 43,822,010 (GRCm39) W187* probably null Het
Rrp12 G C 19: 41,868,920 (GRCm39) D519E possibly damaging Het
Rufy4 T C 1: 74,173,279 (GRCm39) L415P probably damaging Het
Ryk T A 9: 102,765,706 (GRCm39) D335E probably benign Het
S100a11 A T 3: 93,433,428 (GRCm39) I91F probably benign Het
Scin T C 12: 40,118,922 (GRCm39) R625G possibly damaging Het
Simc1 T A 13: 54,672,452 (GRCm39) C267S probably benign Het
Slc28a1 T C 7: 80,787,950 (GRCm39) V279A possibly damaging Het
Slc30a8 T A 15: 52,194,953 (GRCm39) probably null Het
Slco6d1 A G 1: 98,348,941 (GRCm39) D4G probably damaging Het
Tmem127 G A 2: 127,098,094 (GRCm39) probably null Het
Trpm1 G A 7: 63,884,755 (GRCm39) R812H probably damaging Het
Tsga10 T A 1: 37,874,661 (GRCm39) I75F probably damaging Het
Tyms C T 5: 30,267,014 (GRCm39) probably null Het
Ubr4 A G 4: 139,153,008 (GRCm39) probably null Het
Unc45a A G 7: 79,981,488 (GRCm39) V438A possibly damaging Het
Usf2 T C 7: 30,654,765 (GRCm39) D110G probably damaging Het
Vit T C 17: 78,853,875 (GRCm39) probably null Het
Vmn2r104 A T 17: 20,262,497 (GRCm39) M211K probably damaging Het
Vmn2r11 T C 5: 109,199,938 (GRCm39) H505R probably benign Het
Vmn2r77 G A 7: 86,450,821 (GRCm39) A236T probably damaging Het
Xpo1 T C 11: 23,235,155 (GRCm39) M608T probably benign Het
Zfp112 T C 7: 23,824,385 (GRCm39) F116L probably damaging Het
Zfp84 A G 7: 29,476,768 (GRCm39) T487A possibly damaging Het
Zfpl1 A C 19: 6,131,901 (GRCm39) L241R 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
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
Predicted Primers PCR Primer
(F):5'- ACTAGCTTACCATTCTGCTGG -3'
(R):5'- TTGATAATGGCCATCACCCTGG -3'

Sequencing Primer
(F):5'- CTGGTGTCAGCTGAGTGGC -3'
(R):5'- CACATAGTGGGGCAGCGATTC -3'
Posted On 2014-06-23