|Institutional Source||Beutler Lab|
|Gene Name||peptidylprolyl isomerase A|
|Synonyms||Cphn, CyP-18, CypA, cyclophilin A|
|Is this an essential gene?||Possibly essential (E-score: 0.618)|
|Stock #||R7394 (G1)|
|Chromosomal Location||6415443-6419817 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 6419218 bp|
|Amino Acid Change||Serine to Proline at position 99 (S99P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000117987 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000090749] [ENSMUST00000132846] [ENSMUST00000213200]|
|Predicted Effect||probably benign
|Predicted Effect||possibly damaging
AA Change: S99P
PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: S99P
|Predicted Effect||probably damaging
AA Change: S91P
PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|Coding Region Coverage||
|Validation Efficiency||99% (66/67)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. The encoded protein is a cyclosporin binding-protein and may play a role in cyclosporin A-mediated immunosuppression. The protein can also interact with several HIV proteins, including p55 gag, Vpr, and capsid protein, and has been shown to be necessary for the formation of infectious HIV virions. Multiple pseudogenes that map to different chromosomes have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene tend to develop blepharitis (about 30% of mice) as well as inflammation in other organs. Some background dependent embryonic lethality occurs but adults are robust and live normal life spans. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ppia||
(F):5'- TTGGAGAGCAGTGCAGATATAC -3'
(R):5'- GACACAGCACTCTTACTGGC -3'
(F):5'- CTGTGCCATATGTATATACACAGC -3'
(R):5'- GGCTCAATTTCCACTATCTTGAGAGG -3'