|Institutional Source||Beutler Lab|
|Gene Name||calcium modulating ligand|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0542 (G1)|
|Chromosomal Location||55623005-55632411 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 55623161 bp|
|Amino Acid Change||Glutamine to Leucine at position 24 (Q24L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000021963 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021963]|
|Predicted Effect||possibly damaging
AA Change: Q24L
PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
AA Change: Q24L
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.7124|
|Coding Region Coverage||
|Validation Efficiency||99% (70/71)|
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'- TGAGCACTGCGAGCCAACTTAG -3'
(R):5'- CGGTGACAGAGTTCGGTCAGAATG -3'
(F):5'- TGCCCTCACTGAACATGG -3'
(R):5'- TTTGGGGACAAAATGTTTACGAGC -3'