Incidental Mutation 'R1741:Padi4'
ID 200335
Institutional Source Beutler Lab
Gene Symbol Padi4
Ensembl Gene ENSMUSG00000025330
Gene Name peptidyl arginine deiminase, type IV
Synonyms Pdi4, Pad4, PAD type IV
MMRRC Submission 039773-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1741 (G1)
Quality Score 201
Status Not validated
Chromosome 4
Chromosomal Location 140473176-140501547 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 140473481 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 652 (V652A)
Ref Sequence ENSEMBL: ENSMUSP00000026381 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026381] [ENSMUST00000038749] [ENSMUST00000130267]
AlphaFold Q9Z183
Predicted Effect probably damaging
Transcript: ENSMUST00000026381
AA Change: V652A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026381
Gene: ENSMUSG00000025330
AA Change: V652A

Pfam:PAD_N 1 111 2.3e-38 PFAM
Pfam:PAD_M 113 273 2.4e-63 PFAM
Pfam:PAD 283 663 2.4e-176 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000038749
SMART Domains Protein: ENSMUSP00000044044
Gene: ENSMUSG00000040935

Pfam:PAD_N 1 112 5.6e-38 PFAM
Pfam:PAD_M 114 269 6e-53 PFAM
Pfam:PAD 280 679 4.7e-149 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130267
SMART Domains Protein: ENSMUSP00000123490
Gene: ENSMUSG00000040935

Pfam:PAD_M 39 191 1.1e-57 PFAM
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.5%
  • 20x: 92.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of a gene family which encodes enzymes responsible for the conversion of arginine residues to citrulline residues. This gene may play a role in granulocyte and macrophage development leading to inflammation and immune response. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mice are viable albeit reduced number than expected were born from heterozygous crosses, and shows decreased antibacterial immune responses. Mice homozygous for a different knock-out allele exhibit decreased weight loss in response to viral infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034E13Rik A G 18: 52,793,578 (GRCm39) N37S probably damaging Het
Acad10 T C 5: 121,785,899 (GRCm39) K230R probably damaging Het
Actl7a A G 4: 56,744,252 (GRCm39) N260D probably benign Het
Adam24 T C 8: 41,132,642 (GRCm39) Y37H probably benign Het
Ahcy G A 2: 154,906,154 (GRCm39) A229V probably benign Het
Ap3b2 A G 7: 81,117,347 (GRCm39) V563A possibly damaging Het
Bcl9l T A 9: 44,420,986 (GRCm39) M1427K probably damaging Het
Btf3 C T 13: 98,452,804 (GRCm39) M1I probably null Het
Btg4 A T 9: 51,027,910 (GRCm39) I27L probably benign Het
Ccdc171 A G 4: 83,539,076 (GRCm39) Y366C probably damaging Het
Chd3 A G 11: 69,246,480 (GRCm39) Y1085H probably damaging Het
Cnot10 T C 9: 114,426,892 (GRCm39) D616G possibly damaging Het
Crlf1 C A 8: 70,953,556 (GRCm39) D243E probably damaging Het
Cyp2b23 A G 7: 26,372,502 (GRCm39) V371A possibly damaging Het
Dennd2a A G 6: 39,470,091 (GRCm39) S534P probably damaging Het
Eln A G 5: 134,758,038 (GRCm39) V185A unknown Het
Epor C T 9: 21,871,067 (GRCm39) G301D probably damaging Het
Fam83f T G 15: 80,576,468 (GRCm39) V373G possibly damaging Het
Fbxl21 A T 13: 56,684,915 (GRCm39) T340S probably benign Het
Fcgbpl1 G T 7: 27,857,279 (GRCm39) C2209F probably damaging Het
Fez1 T A 9: 36,755,029 (GRCm39) D9E probably damaging Het
Fsip2 T C 2: 82,820,256 (GRCm39) F5330L probably benign Het
Glis1 G A 4: 107,425,544 (GRCm39) R197Q probably damaging Het
Gm10277 TC T 11: 77,676,828 (GRCm39) probably null Het
Gpr158 A G 2: 21,832,359 (GRCm39) N1153S probably benign Het
Gramd4 T C 15: 85,975,730 (GRCm39) probably null Het
Hhatl T A 9: 121,618,125 (GRCm39) Y210F possibly damaging Het
Hltf T C 3: 20,140,352 (GRCm39) W422R probably damaging Het
Hspa5 T C 2: 34,662,704 (GRCm39) S87P possibly damaging Het
Il21 T C 3: 37,281,811 (GRCm39) H111R probably benign Het
Ip6k1 G A 9: 107,918,183 (GRCm39) G73S probably benign Het
Kdm5b A G 1: 134,545,755 (GRCm39) D972G possibly damaging Het
Kif21b C T 1: 136,083,880 (GRCm39) A709V probably damaging Het
Kmt2d T C 15: 98,743,115 (GRCm39) probably benign Het
Lrrc14b A G 13: 74,511,705 (GRCm39) L125P probably damaging Het
Mapk8ip3 A G 17: 25,118,828 (GRCm39) S1169P probably damaging Het
Me3 A T 7: 89,501,041 (GRCm39) Y584F probably damaging Het
Mxra7 T G 11: 116,707,070 (GRCm39) probably null Het
Nf1 T C 11: 79,334,757 (GRCm39) S870P probably benign Het
Npr2 G A 4: 43,643,350 (GRCm39) G525S probably damaging Het
Nyap1 A T 5: 137,731,387 (GRCm39) S726T probably damaging Het
Pclo A G 5: 14,726,524 (GRCm39) probably benign Het
Pgm1 G A 4: 99,822,062 (GRCm39) probably null Het
Piezo2 A G 18: 63,154,244 (GRCm39) S2512P probably damaging Het
Ptbp3 A T 4: 59,482,624 (GRCm39) D386E probably damaging Het
Ptk2 A G 15: 73,114,255 (GRCm39) V701A possibly damaging Het
Ptpn3 A G 4: 57,254,922 (GRCm39) V154A probably damaging Het
Rassf4 T C 6: 116,616,450 (GRCm39) E287G probably damaging Het
Rnh1 C T 7: 140,743,936 (GRCm39) R174H probably benign Het
Scn9a T A 2: 66,317,938 (GRCm39) I1517F probably damaging Het
Sftpb C A 6: 72,282,797 (GRCm39) A90E probably benign Het
Slc39a14 T C 14: 70,556,193 (GRCm39) K61R probably damaging Het
Tmem132d A C 5: 127,861,922 (GRCm39) M733R probably benign Het
Tmem248 A G 5: 130,265,664 (GRCm39) I156V probably benign Het
Traf2 T C 2: 25,414,495 (GRCm39) D339G probably damaging Het
Trappc11 A G 8: 47,982,362 (GRCm39) probably null Het
Tuba8 T A 6: 121,199,727 (GRCm39) I137N possibly damaging Het
Txlnb A G 10: 17,714,695 (GRCm39) T376A probably damaging Het
Usp34 A G 11: 23,314,103 (GRCm39) T663A probably benign Het
Vmn2r26 T A 6: 124,038,431 (GRCm39) F669I probably damaging Het
Wdr95 G A 5: 149,518,861 (GRCm39) probably null Het
Wfdc8 T G 2: 164,450,789 (GRCm39) probably benign Het
Zfp64 A C 2: 168,768,238 (GRCm39) V458G probably benign Het
Zfp868 C T 8: 70,064,519 (GRCm39) G272D probably damaging Het
Other mutations in Padi4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02439:Padi4 APN 4 140,473,532 (GRCm39) missense probably damaging 1.00
R0411:Padi4 UTSW 4 140,475,760 (GRCm39) critical splice donor site probably benign
R0528:Padi4 UTSW 4 140,496,740 (GRCm39) missense possibly damaging 0.75
R0544:Padi4 UTSW 4 140,475,760 (GRCm39) critical splice donor site probably benign
R0547:Padi4 UTSW 4 140,475,760 (GRCm39) critical splice donor site probably benign
R0548:Padi4 UTSW 4 140,475,760 (GRCm39) critical splice donor site probably benign
R0633:Padi4 UTSW 4 140,484,896 (GRCm39) missense probably damaging 1.00
R1112:Padi4 UTSW 4 140,485,427 (GRCm39) missense probably benign 0.04
R1411:Padi4 UTSW 4 140,479,914 (GRCm39) missense probably damaging 1.00
R1573:Padi4 UTSW 4 140,484,881 (GRCm39) missense possibly damaging 0.86
R2256:Padi4 UTSW 4 140,487,251 (GRCm39) missense possibly damaging 0.77
R2257:Padi4 UTSW 4 140,487,251 (GRCm39) missense possibly damaging 0.77
R5257:Padi4 UTSW 4 140,473,515 (GRCm39) missense probably benign 0.01
R5266:Padi4 UTSW 4 140,473,442 (GRCm39) missense possibly damaging 0.86
R6044:Padi4 UTSW 4 140,475,438 (GRCm39) missense possibly damaging 0.94
R6057:Padi4 UTSW 4 140,487,351 (GRCm39) missense probably damaging 0.99
R6180:Padi4 UTSW 4 140,483,784 (GRCm39) missense possibly damaging 0.87
R7197:Padi4 UTSW 4 140,488,969 (GRCm39) nonsense probably null
R7395:Padi4 UTSW 4 140,488,983 (GRCm39) missense probably damaging 1.00
R8421:Padi4 UTSW 4 140,475,533 (GRCm39) missense probably damaging 1.00
R8546:Padi4 UTSW 4 140,484,841 (GRCm39) missense probably damaging 0.98
R8697:Padi4 UTSW 4 140,485,230 (GRCm39) frame shift probably null
R8857:Padi4 UTSW 4 140,501,472 (GRCm39) missense probably damaging 0.99
R9060:Padi4 UTSW 4 140,477,953 (GRCm39) missense probably damaging 1.00
R9261:Padi4 UTSW 4 140,479,926 (GRCm39) missense probably damaging 1.00
R9453:Padi4 UTSW 4 140,479,950 (GRCm39) missense probably benign 0.15
RF004:Padi4 UTSW 4 140,487,269 (GRCm39) missense probably damaging 1.00
X0028:Padi4 UTSW 4 140,473,435 (GRCm39) makesense probably null
Z1177:Padi4 UTSW 4 140,483,758 (GRCm39) missense possibly damaging 0.77
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-05-23