Incidental Mutation 'R8270:Cdh5'
ID 639449
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 067694-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8270 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 104828257-104871143 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 104839672 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 48 (I48V)
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 probably benign
Transcript: ENSMUST00000034339
AA Change: I48V

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000034339
Gene: ENSMUSG00000031871
AA Change: I48V

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 probably benign
Transcript: ENSMUST00000209911
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.6%
Validation Efficiency 98% (52/53)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 G A 13: 81,651,163 (GRCm39) T3044I probably damaging Het
Apbb1ip C T 2: 22,765,004 (GRCm39) P562S unknown Het
Arhgap44 A G 11: 64,912,860 (GRCm39) M477T possibly damaging Het
Arhgef12 T C 9: 42,882,354 (GRCm39) T1497A probably benign Het
Atp5pd T C 11: 115,307,698 (GRCm39) D91G probably damaging Het
Atp6v0a4 A G 6: 38,051,164 (GRCm39) F405L probably damaging Het
Bicc1 T A 10: 70,767,938 (GRCm39) T893S probably damaging Het
Cacna1i T A 15: 80,257,835 (GRCm39) C1122S probably damaging Het
Capn7 A G 14: 31,080,636 (GRCm39) E369G probably damaging Het
Cass4 T A 2: 172,269,589 (GRCm39) L557Q probably damaging Het
Crisp3 T C 17: 40,546,813 (GRCm39) K35R probably benign Het
Csde1 G A 3: 102,946,071 (GRCm39) A22T possibly damaging Het
Ctse T C 1: 131,595,877 (GRCm39) Y190H probably damaging Het
Cyp2d34 T A 15: 82,504,988 (GRCm39) D24V possibly damaging Het
D630045J12Rik A T 6: 38,167,658 (GRCm39) Y981* probably null Het
Dclre1a G A 19: 56,533,382 (GRCm39) T404I possibly damaging Het
Dmc1 T C 15: 79,485,746 (GRCm39) D23G probably damaging Het
Dnah8 C T 17: 31,059,687 (GRCm39) T4429M probably damaging Het
Esf1 A T 2: 139,997,033 (GRCm39) probably benign Het
Fbxl12 C A 9: 20,550,160 (GRCm39) R165L possibly damaging Het
Fn3k A T 11: 121,330,137 (GRCm39) M107L probably benign Het
Fxyd5 A G 7: 30,740,854 (GRCm39) L10P probably damaging Het
Gm21958 G A 3: 54,621,633 (GRCm39) probably benign Het
Gm4922 C T 10: 18,659,760 (GRCm39) D321N probably benign Het
Gtf2h3 A G 5: 124,734,050 (GRCm39) *310W probably null Het
Hapln2 G A 3: 87,930,851 (GRCm39) T180I possibly damaging Het
Herc1 T G 9: 66,395,232 (GRCm39) V4189G probably damaging Het
Iqgap1 A G 7: 80,379,875 (GRCm39) V1166A probably damaging Het
Kcnk10 T C 12: 98,401,358 (GRCm39) N439S Het
Klhl3 A T 13: 58,260,968 (GRCm39) M15K Het
Klk1b26 A T 7: 43,665,544 (GRCm39) T151S probably benign Het
Krtap5-1 C A 7: 141,850,199 (GRCm39) C176F unknown Het
Krtap5-3 T A 7: 141,755,693 (GRCm39) C177S unknown Het
Lrrc37 T C 11: 103,434,141 (GRCm39) I3009M unknown Het
Map1a T C 2: 121,129,501 (GRCm39) F180L probably damaging Het
Mfap5 T C 6: 122,498,889 (GRCm39) probably null Het
Nckap1 T A 2: 80,355,008 (GRCm39) H638L possibly damaging Het
Optc C T 1: 133,832,810 (GRCm39) V97M probably benign Het
Or5p78 T A 7: 108,212,150 (GRCm39) I212N probably benign Het
Or8b46 T G 9: 38,450,644 (GRCm39) M151R noncoding transcript Het
Piezo1 A G 8: 123,228,298 (GRCm39) Y330H Het
Ppp1r12b G T 1: 134,803,886 (GRCm39) N424K probably benign Het
Prdm5 T A 6: 65,913,058 (GRCm39) F580L probably damaging Het
Prr27 A C 5: 87,994,171 (GRCm39) K348N possibly damaging Het
Prr30 A G 14: 101,435,822 (GRCm39) Y247H possibly damaging Het
Rbks A T 5: 31,807,810 (GRCm39) probably benign Het
Sec24d T C 3: 123,099,535 (GRCm39) V336A possibly damaging Het
Serac1 A T 17: 6,101,033 (GRCm39) L457H probably damaging Het
Serpina1f A G 12: 103,659,757 (GRCm39) I175T probably damaging Het
Smr2l T C 5: 88,430,383 (GRCm39) V93A possibly damaging Het
Sspo A T 6: 48,426,897 (GRCm39) H242L probably benign Het
Tcaf2 A T 6: 42,606,958 (GRCm39) M332K probably benign Het
Tnrc6a T A 7: 122,769,294 (GRCm39) N361K possibly damaging Het
Trim43b G T 9: 88,967,458 (GRCm39) H393N possibly damaging Het
Ush2a T C 1: 188,176,838 (GRCm39) L1334S probably benign Het
Usp35 T C 7: 96,961,551 (GRCm39) E625G 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
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
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'- TTCCATAGGACAGTGGGCAC -3'
(R):5'- TCAGCACACATGTCACTTTCAC -3'

Sequencing Primer
(F):5'- GGTCCTGATGGTGCCTATCC -3'
(R):5'- ACACATGTCACTTTCACCATTATTAC -3'
Posted On 2020-07-28