|Institutional Source||Beutler Lab|
|Gene Name||perforin 1 (pore forming protein)|
|Synonyms||Pfn, Prf-1, perforin, Pfp|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R8162 (G1)|
|Chromosomal Location||61297833-61304680 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 61302970 bp|
|Amino Acid Change||Threonine to Alanine at position 236 (T236A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000041483 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000035419]|
|PDB Structure||The X-ray crystal structure of lymphocyte perforin [X-RAY DIFFRACTION]|
|Predicted Effect||probably damaging
AA Change: T236A
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: T236A
|Coding Region Coverage||
|Validation Efficiency||98% (47/48)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has structural and functional similarities to complement component 9 (C9). Like C9, this protein creates transmembrane tubules and is capable of lysing non-specifically a variety of target cells. This protein is one of the main cytolytic proteins of cytolytic granules, and it is known to be a key effector molecule for T-cell- and natural killer-cell-mediated cytolysis. Defects in this gene cause familial hemophagocytic lymphohistiocytosis type 2 (HPLH2), a rare and lethal autosomal recessive disorder of early childhood. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit increased susceptibility to viral infection and defective cytotoxic T cell cytolysis and NK cell cytolysis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Prf1||
(F):5'- CCACAGTTTTCGCCTGGTAC -3'
(R):5'- AGATCATGCGTGGAGTCCAG -3'
(F):5'- GTTTTCGCCTGGTACAAAAACC -3'
(R):5'- AAGTACTTCGACGTGACGCTC -3'