|Institutional Source||Beutler Lab|
|Gene Name||cadherin 5|
|Synonyms||VECD, VEcad, VE-cadherin, CD144, VE-Cad, 7B4/cadherin-5, VEC|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4823 (G1)|
|Chromosomal Location||104101625-104144511 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 104142669 bp|
|Amino Acid Change||Serine to Proline at position 676 (S676P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034339 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034339]|
|PDB Structure||NMR structure of mouse Par3-PDZ3 in complex with VE-Cadherin C-terminus [SOLUTION NMR]|
|Predicted Effect||probably benign
AA Change: S676P
PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
AA Change: S676P
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||98% (96/98)|
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||
|Other mutations in Cdh5||
(F):5'- GAACCTGTCTGACCCACATCTG -3'
(R):5'- TCGTAGCCGTAGATGTGCAG -3'
(F):5'- CTTGCTGATCATCCTGCGGAG -3'
(R):5'- AGCCGTAGATGTGCAGTGTGTC -3'