|Institutional Source||Beutler Lab|
|Gene Name||catenin (cadherin associated protein), alpha 1|
|Synonyms||alpha E catenin, alpha(E)-catenin, 2010010M04Rik, Catna1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5607 (G1)|
|Chromosomal Location||35118888-35254773 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 35249742 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 647 (D647G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000049007 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000042345]|
|Predicted Effect||probably benign
AA Change: D647G
PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
AA Change: D647G
|Meta Mutation Damage Score||0.0870|
|Coding Region Coverage||
|Validation Efficiency||96% (54/56)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the catenin family of proteins that play an important role in cell adhesion process by connecting cadherins located on the plasma membrane to the actin filaments inside the cell. The encoded mechanosensing protein contains three vinculin homology domains and undergoes conformational changes in response to cytoskeletal tension, resulting in the reconfiguration of cadherin-actin filament connections. Certain mutations in this gene cause butterfly-shaped pigment dystrophy. [provided by RefSeq, May 2016]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage. A conditional knockout in surface epithelium results in defects in hair follicle development and epidermal morphogenesis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ctnna1||
(F):5'- AAGAGCTTTCTTTACAGAGAGGGTG -3'
(R):5'- ACTAGCAGCTGCCATGACTG -3'
(F):5'- TGAGGAGGCTGACACACTGC -3'
(R):5'- GACTGAGGATTTTAGCTGTACTCCAC -3'