|Institutional Source||Beutler Lab|
|Gene Name||peptidyl arginine deiminase, type II|
|Synonyms||PAD type II, Pdi, Pdi2|
|Is this an essential gene?||Probably non essential (E-score: 0.096)|
|Stock #||R5058 (G1)|
|Chromosomal Location||140906344-140952586 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 140932121 bp|
|Amino Acid Change||Valine to Leucine at position 246 (V246L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000030765 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030765]|
|Predicted Effect||probably benign
AA Change: V246L
PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
AA Change: V246L
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1493|
|Coding Region Coverage||
|Validation Efficiency||100% (79/79)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type II enzyme is the most widely expressed family member. Known substrates for this enzyme include myelin basic protein in the central nervous system and vimentin in skeletal muscle and macrophages. This enzyme is thought to play a role in the onset and progression of neurodegenerative human disorders, including Alzheimer disease and multiple sclerosis, and it has also been implicated in glaucoma pathogenesis. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired ATP- or calcium ionophore ionomycin-induced citrullination of mast cells or of proteins following induction of EAE. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Padi2||
(F):5'- AACCCGTTTGCAGCATCCTG -3'
(R):5'- TAAAGTTCCCAGGTCTGAGCGAG -3'
(F):5'- AGCATCCTGTGGTGTTTTCC -3'
(R):5'- GGGACATACTTGACTGCGCATG -3'