Incidental Mutation 'R3022:Padi2'
ID 265729
Institutional Source Beutler Lab
Gene Symbol Padi2
Ensembl Gene ENSMUSG00000028927
Gene Name peptidyl arginine deiminase, type II
Synonyms Pdi2, Pdi, PAD type II
MMRRC Submission 040538-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.129) question?
Stock # R3022 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 140633655-140679897 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 140665299 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 468 (V468E)
Ref Sequence ENSEMBL: ENSMUSP00000030765 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030765]
AlphaFold Q08642
Predicted Effect possibly damaging
Transcript: ENSMUST00000030765
AA Change: V468E

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000030765
Gene: ENSMUSG00000028927
AA Change: V468E

DomainStartEndE-ValueType
Pfam:PAD_N 9 122 1.7e-36 PFAM
Pfam:PAD_M 124 282 4e-71 PFAM
Pfam:PAD 292 670 3.8e-174 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype 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
Total: 11 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bptf T A 11: 107,002,463 (GRCm39) probably null Het
Dnah3 T A 7: 119,677,704 (GRCm39) I406F possibly damaging Het
Dnah7b G A 1: 46,221,583 (GRCm39) C1229Y probably damaging Het
Flywch1 T C 17: 23,982,082 (GRCm39) R41G probably benign Het
Itpkb A T 1: 180,245,888 (GRCm39) T802S probably damaging Het
Kdm1b C T 13: 47,216,553 (GRCm39) R308W probably damaging Het
Or10aa1 A G 1: 173,869,650 (GRCm39) I45V probably benign Het
Prom1 G A 5: 44,204,916 (GRCm39) T177I probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Stx5a T C 19: 8,732,518 (GRCm39) probably benign Het
Vmn1r237 T A 17: 21,534,709 (GRCm39) I144K probably damaging Het
Other mutations in Padi2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01311:Padi2 APN 4 140,644,948 (GRCm39) missense probably benign 0.27
IGL01374:Padi2 APN 4 140,660,496 (GRCm39) missense probably damaging 1.00
IGL01608:Padi2 APN 4 140,659,541 (GRCm39) missense probably damaging 1.00
IGL02085:Padi2 APN 4 140,654,468 (GRCm39) nonsense probably null
IGL02593:Padi2 APN 4 140,677,153 (GRCm39) missense probably damaging 1.00
IGL02668:Padi2 APN 4 140,677,191 (GRCm39) missense probably benign 0.02
IGL03341:Padi2 APN 4 140,654,424 (GRCm39) missense probably benign 0.06
R0116:Padi2 UTSW 4 140,653,550 (GRCm39) missense probably benign 0.00
R2045:Padi2 UTSW 4 140,665,241 (GRCm39) missense probably damaging 1.00
R2079:Padi2 UTSW 4 140,660,507 (GRCm39) missense probably damaging 1.00
R3079:Padi2 UTSW 4 140,677,189 (GRCm39) missense probably damaging 0.99
R3780:Padi2 UTSW 4 140,645,048 (GRCm39) missense probably benign 0.00
R4250:Padi2 UTSW 4 140,633,857 (GRCm39) missense probably damaging 0.97
R4276:Padi2 UTSW 4 140,663,859 (GRCm39) missense possibly damaging 0.93
R4647:Padi2 UTSW 4 140,671,757 (GRCm39) missense probably damaging 1.00
R5058:Padi2 UTSW 4 140,659,432 (GRCm39) missense probably benign 0.00
R5452:Padi2 UTSW 4 140,659,382 (GRCm39) missense probably benign 0.26
R5471:Padi2 UTSW 4 140,660,519 (GRCm39) missense possibly damaging 0.90
R5489:Padi2 UTSW 4 140,671,799 (GRCm39) missense probably damaging 0.99
R5519:Padi2 UTSW 4 140,676,533 (GRCm39) missense probably damaging 1.00
R5666:Padi2 UTSW 4 140,676,542 (GRCm39) missense possibly damaging 0.76
R5793:Padi2 UTSW 4 140,660,501 (GRCm39) missense probably benign 0.04
R5913:Padi2 UTSW 4 140,644,952 (GRCm39) missense probably benign 0.00
R5929:Padi2 UTSW 4 140,671,848 (GRCm39) critical splice donor site probably null
R5933:Padi2 UTSW 4 140,644,952 (GRCm39) missense probably benign 0.00
R6478:Padi2 UTSW 4 140,644,948 (GRCm39) missense probably benign 0.00
R6809:Padi2 UTSW 4 140,674,077 (GRCm39) splice site probably null
R7075:Padi2 UTSW 4 140,660,528 (GRCm39) missense probably damaging 0.96
R7313:Padi2 UTSW 4 140,660,079 (GRCm39) missense probably damaging 0.99
R7380:Padi2 UTSW 4 140,644,997 (GRCm39) nonsense probably null
R7391:Padi2 UTSW 4 140,665,266 (GRCm39) missense probably benign 0.01
R7574:Padi2 UTSW 4 140,676,648 (GRCm39) missense possibly damaging 0.87
R7776:Padi2 UTSW 4 140,651,656 (GRCm39) missense probably benign 0.01
R7791:Padi2 UTSW 4 140,644,907 (GRCm39) missense probably benign 0.00
R7810:Padi2 UTSW 4 140,676,575 (GRCm39) missense possibly damaging 0.91
R7985:Padi2 UTSW 4 140,659,403 (GRCm39) missense probably benign 0.06
R8154:Padi2 UTSW 4 140,651,620 (GRCm39) splice site probably null
R8481:Padi2 UTSW 4 140,660,564 (GRCm39) missense probably benign 0.01
R8524:Padi2 UTSW 4 140,677,006 (GRCm39) missense possibly damaging 0.90
R8732:Padi2 UTSW 4 140,660,590 (GRCm39) missense probably benign 0.29
R9010:Padi2 UTSW 4 140,663,924 (GRCm39) missense probably damaging 0.99
R9653:Padi2 UTSW 4 140,662,036 (GRCm39) critical splice donor site probably null
Z1177:Padi2 UTSW 4 140,677,038 (GRCm39) missense probably damaging 1.00
Z1177:Padi2 UTSW 4 140,651,646 (GRCm39) missense possibly damaging 0.50
Predicted Primers PCR Primer
(F):5'- AGATCTGGCCTGGGTTTCAG -3'
(R):5'- TGGGTTTAAAATTGCCTGCC -3'

Sequencing Primer
(F):5'- CAGATGCTGAATGTCTCATCCTGG -3'
(R):5'- TTACAAAACCAACTTCAGCTACTTG -3'
Posted On 2015-02-05