Incidental Mutation 'IGL01374:Padi2'
ID78665
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Padi2
Ensembl Gene ENSMUSG00000028927
Gene Namepeptidyl arginine deiminase, type II
SynonymsPAD type II, Pdi, Pdi2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.094) question?
Stock #IGL01374
Quality Score
Status
Chromosome4
Chromosomal Location140906344-140952586 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 140933185 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 325 (N325K)
Ref Sequence ENSEMBL: ENSMUSP00000030765 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030765]
Predicted Effect probably damaging
Transcript: ENSMUST00000030765
AA Change: N325K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030765
Gene: ENSMUSG00000028927
AA Change: N325K

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148160
Coding Region Coverage
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik T C 7: 131,146,101 H54R probably benign Het
Acsl6 T C 11: 54,338,419 V359A probably damaging Het
Aldh3a2 C T 11: 61,249,002 V435I probably benign Het
Atm A T 9: 53,531,724 S80T possibly damaging Het
Atp8b4 A T 2: 126,383,657 probably benign Het
Atxn1 T C 13: 45,568,427 probably benign Het
Chd3 T C 11: 69,359,980 E641G probably damaging Het
Clpb T C 7: 101,773,128 V346A probably damaging Het
Ctnnbl1 T A 2: 157,836,693 probably null Het
Cyp2b19 C T 7: 26,759,079 P73L probably benign Het
Dcc T C 18: 71,374,553 Y916C probably damaging Het
Fat4 A G 3: 38,887,498 N180S probably damaging Het
Foxi1 A C 11: 34,207,984 C14G probably damaging Het
Fut4 G T 9: 14,751,490 F169L probably benign Het
Grip1 T C 10: 120,049,368 S748P probably benign Het
Hnrnpr T C 4: 136,327,418 probably benign Het
Ifnz G A 4: 88,783,341 probably benign Het
Krt28 A G 11: 99,371,468 V232A probably benign Het
Lyar C A 5: 38,228,047 probably null Het
Manba G A 3: 135,554,780 W575* probably null Het
Morc3 T A 16: 93,844,213 D44E probably damaging Het
Mrc2 T A 11: 105,347,643 Y1205* probably null Het
Myh2 A T 11: 67,177,424 T293S probably benign Het
Nlrp10 T A 7: 108,924,581 K564I possibly damaging Het
Nuak1 A G 10: 84,374,668 S519P probably damaging Het
Olfr1158 T C 2: 87,990,548 F146L probably benign Het
Olfr358 T C 2: 37,004,930 H228R probably benign Het
Pcdhb19 A T 18: 37,497,989 Y279F probably damaging Het
Phldb1 A G 9: 44,696,167 L1247P probably damaging Het
Rmdn3 A G 2: 119,153,947 V108A probably damaging Het
Slc22a5 A G 11: 53,867,664 F437L probably benign Het
Slc3a2 C T 19: 8,713,337 probably null Het
Slc5a3 T A 16: 92,077,118 M21K probably benign Het
Spink5 T A 18: 43,989,404 F312Y possibly damaging Het
Stab1 T C 14: 31,147,075 Y1531C probably damaging Het
Tln2 C A 9: 67,261,923 A433S probably damaging Het
Usp24 C T 4: 106,380,099 L1076F possibly damaging Het
Vmn2r117 T C 17: 23,478,382 Y112C possibly damaging Het
Vmn2r16 C T 5: 109,330,417 L13F probably benign Het
Vmn2r76 T C 7: 86,225,649 M707V probably benign Het
Zmym4 A T 4: 126,868,957 F1358I probably damaging Het
Other mutations in Padi2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01311:Padi2 APN 4 140917637 missense probably benign 0.27
IGL01608:Padi2 APN 4 140932230 missense probably damaging 1.00
IGL02085:Padi2 APN 4 140927157 nonsense probably null
IGL02593:Padi2 APN 4 140949842 missense probably damaging 1.00
IGL02668:Padi2 APN 4 140949880 missense probably benign 0.02
IGL03341:Padi2 APN 4 140927113 missense probably benign 0.06
R0116:Padi2 UTSW 4 140926239 missense probably benign 0.00
R2045:Padi2 UTSW 4 140937930 missense probably damaging 1.00
R2079:Padi2 UTSW 4 140933196 missense probably damaging 1.00
R3022:Padi2 UTSW 4 140937988 missense possibly damaging 0.79
R3079:Padi2 UTSW 4 140949878 missense probably damaging 0.99
R3780:Padi2 UTSW 4 140917737 missense probably benign 0.00
R4250:Padi2 UTSW 4 140906546 missense probably damaging 0.97
R4276:Padi2 UTSW 4 140936548 missense possibly damaging 0.93
R4647:Padi2 UTSW 4 140944446 missense probably damaging 1.00
R5058:Padi2 UTSW 4 140932121 missense probably benign 0.00
R5452:Padi2 UTSW 4 140932071 missense probably benign 0.26
R5471:Padi2 UTSW 4 140933208 missense possibly damaging 0.90
R5489:Padi2 UTSW 4 140944488 missense probably damaging 0.99
R5519:Padi2 UTSW 4 140949222 missense probably damaging 1.00
R5666:Padi2 UTSW 4 140949231 missense possibly damaging 0.76
R5793:Padi2 UTSW 4 140933190 missense probably benign 0.04
R5913:Padi2 UTSW 4 140917641 missense probably benign 0.00
R5929:Padi2 UTSW 4 140944537 critical splice donor site probably null
R5933:Padi2 UTSW 4 140917641 missense probably benign 0.00
R6478:Padi2 UTSW 4 140917637 missense probably benign 0.00
R6809:Padi2 UTSW 4 140946766 splice site probably null
R7075:Padi2 UTSW 4 140933217 missense probably damaging 0.96
R7313:Padi2 UTSW 4 140932768 missense probably damaging 0.99
R7380:Padi2 UTSW 4 140917686 nonsense probably null
R7391:Padi2 UTSW 4 140937955 missense probably benign 0.01
Posted On2013-11-05