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|Institutional Source||Beutler Lab|
|Gene Name||calcineurin binding protein 1|
|Synonyms||Cain, Ppp3in, A330070M20Rik|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0588 (G1)|
|Chromosomal Location||75646112-75764341 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 75745337 bp|
|Amino Acid Change||Glutamic Acid to Glycine at position 385 (E385G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000001712 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000001712]|
|Predicted Effect||possibly damaging
AA Change: E385G
PolyPhen 2 Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: E385G
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0639|
|Coding Region Coverage||
|Validation Efficiency||100% (25/25)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Calcineurin plays an important role in the T-cell receptor-mediated signal transduction pathway. The protein encoded by this gene binds specifically to the activated form of calcineurin and inhibits calcineurin-mediated signal transduction. The encoded protein is found in the nucleus and contains a leucine zipper domain as well as several PEST motifs, sequences which confer targeted degradation to those proteins which contain them. Alternative splicing results in multiple transcript variants encoding two different isoforms. [provided by RefSeq, Jan 2011]
PHENOTYPE: Homozygous null mutants exhibit embryonic lethality during organogenesis. Mice producing a truncated protein exhibit elevated levels of serum IgG1, IgG2b and IgE, produce more IgG1 in response to T-cell dependent antigen, and have enhanced expression of cytokines in response to anti-CD3 stimulation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cabin1||
(F):5'- TCCAAGCACTCAGTTCAGTGACATC -3'
(R):5'- AGGACTGCGTGCTGTTGAGAAG -3'
(F):5'- TCTATTCAAGCAAGCATCAAGGG -3'
(R):5'- TGCTGTTGAGAAGAAAGATGTCG -3'