|Institutional Source||Beutler Lab|
|Gene Name||protein (peptidyl-prolyl cis/trans isomerase) NIMA-interacting 1|
|Is this an essential gene?||Probably essential (E-score: 0.787)|
|Stock #||R3946 (G1)|
|Chromosomal Location||20652095-20666584 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 20655364 bp|
|Amino Acid Change||Arginine to Tryptophan at position 21 (R21W)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034689 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034689]|
|Predicted Effect||probably damaging
AA Change: R21W
PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
AA Change: R21W
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||98% (60/61)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Peptidyl-prolyl cis/trans isomerases (PPIases) catalyze the cis/trans isomerization of peptidyl-prolyl peptide bonds. This gene encodes one of the PPIases, which specifically binds to phosphorylated ser/thr-pro motifs to catalytically regulate the post-phosphorylation conformation of its substrates. The conformational regulation catalyzed by this PPIase has a profound impact on key proteins involved in the regulation of cell growth, genotoxic and other stress responses, the immune response, induction and maintenance of pluripotency, germ cell development, neuronal differentiation, and survival. This enzyme also plays a key role in the pathogenesis of Alzheimer's disease and many cancers. Multiple alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jun 2011]
PHENOTYPE: Homozygotes exhibit cell-proliferation abnormalities, including a late-developing reduction in body weight and progressive testicular and retinal atrophies. Mutant females fail to undergo mammary epithelial duct expansion associated with pregnancy. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pin1||
(F):5'- GCATTAGCACAGCCCTACAG -3'
(R):5'- ACCATTGATGAGCTCCAGGG -3'
(F):5'- AGCCCTACAGGTCCCGATG -3'
(R):5'- GTGATCTTTTCCTGCCGCCAG -3'