Incidental Mutation 'R7075:Padi2'
ID 549153
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 045170-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.129) question?
Stock # R7075 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 140633655-140679897 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 140660528 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 336 (V336A)
Ref Sequence ENSEMBL: ENSMUSP00000030765 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030765]
AlphaFold Q08642
Predicted Effect probably damaging
Transcript: ENSMUST00000030765
AA Change: V336A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000030765
Gene: ENSMUSG00000028927
AA Change: V336A

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 95% (60/63)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acyp1 A T 12: 85,325,782 (GRCm39) H72Q unknown Het
Afmid T A 11: 117,726,531 (GRCm39) D218E probably benign Het
Ankhd1 T C 18: 36,693,042 (GRCm39) V1A Het
Atf7ip T C 6: 136,573,513 (GRCm39) probably null Het
BC024139 C T 15: 76,008,599 (GRCm39) V326I probably benign Het
Bfsp1 T A 2: 143,690,885 (GRCm39) Q159L probably damaging Het
Cct2 A T 10: 116,897,370 (GRCm39) W125R unknown Het
Cnksr3 G T 10: 7,102,931 (GRCm39) T147K probably benign Het
Colq C G 14: 31,274,866 (GRCm39) G101R probably damaging Het
Dlg5 G T 14: 24,227,865 (GRCm39) T352K possibly damaging Het
Dusp9 TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG X: 72,684,217 (GRCm39) probably benign Het
Ebna1bp2 T C 4: 118,479,299 (GRCm39) V119A probably benign Het
Eif2ak4 C T 2: 118,251,291 (GRCm39) Q318* probably null Het
Eif2b1 G A 5: 124,709,314 (GRCm39) T286M probably damaging Het
Fam53b G T 7: 132,361,352 (GRCm39) D225E probably damaging Het
Fh1 A G 1: 175,435,421 (GRCm39) I354T probably benign Het
Fnbp1 T C 2: 30,948,926 (GRCm39) H206R probably benign Het
Gabrg3 A T 7: 56,973,444 (GRCm39) D74E probably damaging Het
Galnt18 A T 7: 111,155,595 (GRCm39) V246E possibly damaging Het
Glt6d1 T C 2: 25,685,292 (GRCm39) R44G probably benign Het
Gm17087 T C 17: 8,785,635 (GRCm39) M23V probably benign Het
Gpr160 A T 3: 30,950,926 (GRCm39) I333L possibly damaging Het
Hars1 T C 18: 36,905,408 (GRCm39) N142S possibly damaging Het
Hmgcll1 T C 9: 75,963,834 (GRCm39) V97A possibly damaging Het
Itih4 T G 14: 30,614,560 (GRCm39) V474G probably damaging Het
Itprid2 T A 2: 79,466,004 (GRCm39) S41T probably damaging Het
Keap1 C T 9: 21,142,552 (GRCm39) V568I probably benign Het
Kifc5b A G 17: 27,144,872 (GRCm39) M633V probably benign Het
Lsm4 A G 8: 71,130,435 (GRCm39) E18G probably damaging Het
Meox1 T A 11: 101,784,569 (GRCm39) Q88L probably damaging Het
Mettl25 T C 10: 105,665,785 (GRCm39) N147S possibly damaging Het
Mphosph9 A C 5: 124,458,922 (GRCm39) W83G probably damaging Het
Or1j15 T C 2: 36,459,192 (GRCm39) I194T probably benign Het
Or5ak22 T C 2: 85,230,544 (GRCm39) D111G probably damaging Het
Or7e170 T A 9: 19,795,359 (GRCm39) M81L probably benign Het
Or8b4 T C 9: 37,830,370 (GRCm39) V139A probably benign Het
Or8h8 T G 2: 86,752,990 (GRCm39) K295N possibly damaging Het
Or9g4 T A 2: 85,505,168 (GRCm39) Y109F Het
Otogl G T 10: 107,614,790 (GRCm39) T1954K probably benign Het
Phf21a C T 2: 92,190,724 (GRCm39) Q675* probably null Het
Ppip5k1 T C 2: 121,152,231 (GRCm39) E1092G probably damaging Het
Psg21 T C 7: 18,388,786 (GRCm39) N102S probably damaging Het
Ralgapa1 C A 12: 55,867,508 (GRCm39) Q15H possibly damaging Het
Rbm26 A T 14: 105,398,043 (GRCm39) D26E unknown Het
Rbp4 T C 19: 38,112,509 (GRCm39) Y152C probably damaging Het
Recql4 A G 15: 76,590,624 (GRCm39) V646A possibly damaging Het
Rnf220 A T 4: 117,143,079 (GRCm39) M63K probably benign Het
Selenok T C 14: 29,692,024 (GRCm39) S21P probably damaging Het
Senp1 A G 15: 97,956,207 (GRCm39) V404A probably benign Het
Sh3yl1 A G 12: 30,990,165 (GRCm39) probably null Het
Snx32 A G 19: 5,547,018 (GRCm39) L275P probably damaging Het
Stat5a T C 11: 100,770,519 (GRCm39) V519A possibly damaging Het
Tbc1d10b A T 7: 126,802,410 (GRCm39) V388E possibly damaging Het
Tdrd6 A G 17: 43,936,065 (GRCm39) V1661A probably benign Het
Tmem63a T A 1: 180,788,714 (GRCm39) F350L probably damaging Het
Trio A T 15: 27,898,086 (GRCm39) I401K unknown Het
Ttn T C 2: 76,547,173 (GRCm39) E32291G probably damaging Het
Tubgcp5 G T 7: 55,479,155 (GRCm39) V1002L probably benign Het
Vav3 C T 3: 109,433,240 (GRCm39) T410I possibly damaging Het
Vmn1r1 A T 1: 181,985,597 (GRCm39) F23I probably benign Het
Vmn2r84 T A 10: 130,226,941 (GRCm39) Q299L probably damaging Het
Vmn2r85 T A 10: 130,258,557 (GRCm39) E499D probably benign 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
R3022:Padi2 UTSW 4 140,665,299 (GRCm39) missense possibly damaging 0.79
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
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'- TCTCAGTGACCTTTACAAAGTACCTC -3'
(R):5'- CCGTGGATGCATAGAGATGG -3'

Sequencing Primer
(F):5'- CAATCTAGAGTGCTAGCAGCTCTG -3'
(R):5'- TGCTGGAAGCCACACTTG -3'
Posted On 2019-05-15