|Institutional Source||Beutler Lab|
|Gene Name||catenin (cadherin associated protein), delta 2|
|Synonyms||Catnd2, neurojugin, Nprap|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4979 (G1)|
|Chromosomal Location||30172593-31029341 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 31009075 bp|
|Amino Acid Change||Glutamic Acid to Glycine at position 1106 (E1106G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000080427 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000081728] [ENSMUST00000226119]|
|Predicted Effect||probably damaging
AA Change: E1106G
PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
AA Change: E1106G
|Predicted Effect||possibly damaging
AA Change: E1081G
PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.316|
|Coding Region Coverage||
|Validation Efficiency||99% (79/80)|
|MGI Phenotype||Strain: 3056606
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an adhesive junction associated protein of the armadillo/beta-catenin superfamily and is implicated in brain and eye development and cancer formation. The protein encoded by this gene promotes the disruption of E-cadherin based adherens junction to favor cell spreading upon stimulation by hepatocyte growth factor. This gene is overexpressed in prostate adenocarcinomas and is associated with decreased expression of tumor suppressor E-cadherin in this tissue. This gene resides in a region of the short arm of chromosome 5 that is deleted in Cri du Chat syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]
PHENOTYPE: Mice homozygous for a reporter allele exhibit abnormal conditioning, spatial learning and coordination behaviors and abnormal long term potentiation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ctnnd2||
(F):5'- CATGTAAGAACAACTGCCCG -3'
(R):5'- TCTCAAGTGTTCTGACAGTCC -3'
(F):5'- AGGAAATCTAAGCGATCCAGG -3'
(R):5'- AAGTGTTCTGACAGTCCTCCAGG -3'