|Institutional Source||Beutler Lab|
|Gene Name||cadherin 13|
|Synonyms||T-cadherin, 4932416G01Rik, Tcad|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5129 (G1)|
|Chromosomal Location||118283733-119324921 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 119095215 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 271 (D271G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000113527 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000117160]|
|Predicted Effect||probably damaging
AA Change: D271G
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: D271G
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.9077|
|Coding Region Coverage||
|Validation Efficiency||98% (51/52)|
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. This gene is highly expressed in the vasculature including endothelial cells, smooth muscle cells and pericytes, where the encoded protein binds to adiponectin and has been implicated in the modulation of angiogenesis. Multiple distinct genes of the cadherin family, including this gene, are found on chromosome 8. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased retinal neovascularization and increased adiponectin levels. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cdh13||
(F):5'- TCGGGTCCTTTAATGTGATAGAGC -3'
(R):5'- GCTGTGCTCCATTCTCACAAAG -3'
(F):5'- TCCTTTAATGTGATAGAGCAGGCAG -3'
(R):5'- GAAGAAAACAGAATCCTTTCCGCTC -3'