Incidental Mutation 'IGL03341:Padi2'
ID417219
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 #IGL03341
Quality Score
Status
Chromosome4
Chromosomal Location140906344-140952586 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 140927113 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 192 (M192V)
Ref Sequence ENSEMBL: ENSMUSP00000030765 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030765]
Predicted Effect probably benign
Transcript: ENSMUST00000030765
AA Change: M192V

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000030765
Gene: ENSMUSG00000028927
AA Change: M192V

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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik C T 2: 35,375,894 V255I possibly damaging Het
Acvrl1 T A 15: 101,137,596 N334K probably damaging Het
Arhgef5 T A 6: 43,280,651 I1284N probably damaging Het
Asns C A 6: 7,682,002 R236L probably damaging Het
Barx2 T C 9: 31,858,794 E146G probably damaging Het
Ccl7 A G 11: 82,045,835 S18G probably benign Het
Cilp A T 9: 65,278,002 T460S probably benign Het
Cpa5 A G 6: 30,626,291 Y217C possibly damaging Het
Dgkh T A 14: 78,595,491 probably benign Het
Dmc1 T C 15: 79,562,545 T276A probably benign Het
Fryl G A 5: 73,076,695 P1496S probably benign Het
Gstm2 T C 3: 107,984,205 Y93C possibly damaging Het
Hc A T 2: 35,003,377 I1274N probably damaging Het
Htra1 A G 7: 130,981,714 I355V probably benign Het
Ifi214 G T 1: 173,526,516 T196K possibly damaging Het
Ms4a5 T C 19: 11,279,378 T52A probably benign Het
Mtx3 T C 13: 92,847,883 F191L probably damaging Het
Pdcl3 C A 1: 38,995,895 Q178K probably benign Het
Rap1gap2 G A 11: 74,435,714 R176W probably damaging Het
Ska2 A G 11: 87,116,164 T32A probably benign Het
Slc6a18 G T 13: 73,677,923 Q3K probably benign Het
Slc7a14 T C 3: 31,238,770 Y122C probably damaging Het
Svep1 T A 4: 58,070,308 K2493* probably null Het
Trpm6 T A 19: 18,813,486 N628K probably benign Het
Ttc17 T A 2: 94,375,221 N260I probably damaging Het
Ttc7b T C 12: 100,325,735 I193V possibly damaging Het
Ttn T A 2: 76,712,239 T25141S possibly damaging Het
Zfhx4 A C 3: 5,411,850 Q3150P probably damaging Het
Other mutations in Padi2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01311:Padi2 APN 4 140917637 missense probably benign 0.27
IGL01374:Padi2 APN 4 140933185 missense probably damaging 1.00
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
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 On2016-08-02