|Institutional Source||Beutler Lab|
|Gene Name||regulator of calcineurin 1|
|Synonyms||MCIP1, 2410048A02Rik, ADAPT78, Dscr1, CSP1|
|Essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6991 (G1)|
|Chromosomal Location||92391953-92470867 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 92397363 bp (GRCm38)|
|Amino Acid Change||Valine to Alanine at position 54 (V54A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023672 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023672] [ENSMUST00000060005] [ENSMUST00000231410] [ENSMUST00000231813] [ENSMUST00000232197] [ENSMUST00000232239]|
AA Change: V54A
PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
AA Change: V54A
AA Change: V107A
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene interacts with calcineurin A and inhibits calcineurin-dependent signaling pathways, possibly affecting central nervous system development. This gene is located in the minimal candidate region for the Down syndrome phenotype, and is overexpressed in the brain of Down syndrome fetuses. Chronic overexpression of this gene may lead to neurofibrillary tangles such as those associated with Alzheimer disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]
PHENOTYPE: Unstressed homozygous mutant mice show no overt phenotype other than a slight reduction in heart size and an impaired T helper 1 response. Stress-induced cardiac hypertrophy, however, is attenuated in mutant mice. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rcan1||
(F):5'- GATCCCTTTACACAGCAGGGAG -3'
(R):5'- ACAGACATTCAGCGTCCCTG -3'
(F):5'- GAACTCAAGGTTGGAATCCTGTC -3'
(R):5'- GTCCCTGAAGTGACCGATC -3'