|Institutional Source||Beutler Lab|
|Gene Name||peptidylprolyl isomerase B|
|Synonyms||cyclophilin B, CyP-20b, Cphn2, Cphn-2|
|Is this an essential gene?||Possibly essential (E-score: 0.511)|
|Stock #||R1759 (G1)|
|Chromosomal Location||66060222-66066623 bp(+) (GRCm38)|
|Type of Mutation||nonsense|
|DNA Base Change (assembly)||C to T at 66061482 bp|
|Amino Acid Change||Glutamine to Stop codon at position 51 (Q51*)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034947 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034947] [ENSMUST00000044711]|
|Predicted Effect||probably null
AA Change: Q51*
AA Change: Q51*
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|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 is a cyclosporine-binding protein and is mainly located within the endoplasmic reticulum. It is associated with the secretory pathway and released in biological fluids. This protein can bind to cells derived from T- and B-lymphocytes, and may regulate cyclosporine A-mediated immunosuppression. Variants have been identified in this protein that give rise to recessive forms of osteogenesis imperfecta. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygotes for a null mutations develop kyphosis and severe osteoporosis. Bone structure abnormalities are also seen in the trabecular and cortical regions of the long bones. Bone mineral density is reduced, and bones have reduced strength and are susceptible to fractures. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ppib||
(F):5'- TAGCTCAGTGGTGGACGGCTTATC -3'
(R):5'- TCCAATCTCTGGGAAGTGCCAAAC -3'
(F):5'- aaagcagcagatgctcttaac -3'
(R):5'- TGAGTAAGTCACCGCAGTTC -3'