|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 #||R8260 (G1)|
|Chromosomal Location||30172593-31029341 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 30634733 bp|
|Amino Acid Change||Threonine to Alanine at position 176 (T176A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000080427 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000081728]|
|Predicted Effect||possibly damaging
AA Change: T176A
PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
AA Change: T176A
|Coding Region Coverage||
|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'- AGATGGCTGGAATCATGTGC -3'
(R):5'- ACACAGCCGAGGACCTTTTG -3'
(F):5'- GTGCATGTGATAATTCTAGGCTACTC -3'
(R):5'- CCGAGGACCTTTTGTAAGTTGTAC -3'