|Institutional Source||Beutler Lab|
|Gene Name||calcium modulating ligand|
|Essential gene?||Essential (E-score: 1.000)|
|Stock #||R4613 (G1)|
|Chromosomal Location||55623005-55632411 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 55625142 bp (GRCm38)|
|Amino Acid Change||Glycine to Cysteine at position 200 (G200C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000021963 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021963]|
AA Change: G200C
PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
AA Change: G200C
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The immunosuppressant drug cyclosporin A blocks a calcium-dependent signal from the T-cell receptor (TCR) that normally leads to T-cell activation. When bound to cyclophilin B, cyclosporin A binds and inactivates the key signaling intermediate calcineurin. The protein encoded by this gene functions similarly to cyclosporin A, binding to cyclophilin B and acting downstream of the TCR and upstream of calcineurin by causing an influx of calcium. This integral membrane protein appears to be a new participant in the calcium signal transduction pathway, implicating cyclophilin B in calcium signaling, even in the absence of cyclosporin. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice lacking both functional copies of this gene die during early gestation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Caml||
(F):5'- GGACTCATTCATTAAAGCACCAGAG -3'
(R):5'- AGGCTCTCATTCTCTAACTGGG -3'
(F):5'- AGGTGACCTGACAGCAGACC -3'
(R):5'- TCTGGTAATGCTGGCAAG -3'