|Institutional Source||Beutler Lab|
|Gene Name||cadherin 4|
|Synonyms||R-Cadh, Rcad, R-cadherin|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5029 (G1)|
|Chromosomal Location||179442431-179899373 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 179881949 bp|
|Amino Acid Change||Valine to Aspartic acid at position 440 (V440D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000000314 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000000314]|
|Predicted Effect||possibly damaging
AA Change: V440D
PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: V440D
|Meta Mutation Damage Score||0.7076|
|Coding Region Coverage||
|Validation Efficiency||97% (61/63)|
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. The encoded protein is involved in retinal angiogenesis during development where it plays a crucial role in the endothelial-astrocyte interactions. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015]
PHENOTYPE: Homozygous mutation of this gene results in dilation of the proximal renal tubules and extensive vacuolization of tubule epithelium. Uretic bud epithelium appear disorganized and exhibit increased apoptosis at E15.5. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cdh4||
(F):5'- GGCTCCATATGAGGTCCTAATACTC -3'
(R):5'- AGAATCTTCCCTTTCCTGGTGG -3'
(F):5'- TGAGGTCCTAATACTCTTTCTTACAC -3'
(R):5'- ATCAGGAGTTTGAGGCCACC -3'