Incidental Mutation 'R0548:Padi4'
ID 67024
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 038740-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0548 (G1)
Quality Score 138
Status Validated
Chromosome 4
Chromosomal Location 140473176-140501547 bp(-) (GRCm39)
Type of Mutation critical splice donor site
DNA Base Change (assembly) GCTGCGTACCTCCAC to GC at 140475760 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000026381 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026381]
AlphaFold Q9Z183
Predicted Effect probably benign
Transcript: ENSMUST00000026381
SMART Domains Protein: ENSMUSP00000026381
Gene: ENSMUSG00000025330

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000137516
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
Validation Efficiency 97% (62/64)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam39 T G 8: 41,279,504 (GRCm39) C632G probably damaging Het
Adamtsl3 T C 7: 82,178,191 (GRCm39) probably null Het
Agfg1 A G 1: 82,864,152 (GRCm39) T447A probably damaging Het
Ankrd37 C T 8: 46,451,433 (GRCm39) probably null Het
Apob A T 12: 8,056,282 (GRCm39) D1555V probably damaging Het
Asxl3 T A 18: 22,654,849 (GRCm39) probably benign Het
Brca2 C A 5: 150,468,400 (GRCm39) D2242E probably damaging Het
Car5b G A X: 162,762,297 (GRCm39) R282C probably damaging Het
Cdk5rap2 A T 4: 70,267,379 (GRCm39) probably null Het
Cox10 A T 11: 63,867,178 (GRCm39) Y273N probably damaging Het
Dcbld2 A T 16: 58,275,508 (GRCm39) D408V probably damaging Het
Enam A T 5: 88,650,964 (GRCm39) E824D probably damaging Het
Epm2aip1 T C 9: 111,102,409 (GRCm39) Y461H probably damaging Het
Fam72a T A 1: 131,461,599 (GRCm39) S95T probably damaging Het
Fiz1 A T 7: 5,012,167 (GRCm39) V117D possibly damaging Het
Gm10355 C T 3: 101,214,376 (GRCm39) noncoding transcript Het
Gm11595 A T 11: 99,662,967 (GRCm39) C238S unknown Het
Gm7589 T G 9: 59,053,439 (GRCm39) noncoding transcript Het
H6pd A T 4: 150,066,073 (GRCm39) V771E probably damaging Het
Htt T C 5: 35,028,090 (GRCm39) L1782P probably damaging Het
Il33 T C 19: 29,932,047 (GRCm39) S147P probably benign Het
Lct T C 1: 128,212,932 (GRCm39) Y1907C probably damaging Het
Lrp2 G A 2: 69,367,982 (GRCm39) probably benign Het
Maco1 T C 4: 134,533,971 (GRCm39) D550G probably damaging Het
Map1b T C 13: 99,568,191 (GRCm39) K1510R unknown Het
Marco T C 1: 120,419,767 (GRCm39) T187A probably benign Het
Mki67 A T 7: 135,298,637 (GRCm39) N2132K possibly damaging Het
Mki67 T A 7: 135,296,985 (GRCm39) K2683M probably damaging Het
Mmp15 T C 8: 96,098,979 (GRCm39) V602A probably damaging Het
Mphosph10 T A 7: 64,028,548 (GRCm39) M536L probably benign Het
Mroh2a C A 1: 88,170,142 (GRCm39) A685D possibly damaging Het
Mylk G C 16: 34,699,845 (GRCm39) E403Q possibly damaging Het
N4bp2 G T 5: 65,965,496 (GRCm39) V1182L probably benign Het
Nlrc5 C A 8: 95,248,411 (GRCm39) F1715L probably null Het
Nsd2 T A 5: 34,050,882 (GRCm39) V1253E probably damaging Het
Numa1 T C 7: 101,644,731 (GRCm39) S236P possibly damaging Het
Or2a52 T A 6: 43,144,121 (GRCm39) I43K probably benign Het
Or4c120 C A 2: 89,000,992 (GRCm39) C188F probably damaging Het
Or8g18 A T 9: 39,149,667 (GRCm39) S18T probably benign Het
Pi4ka A T 16: 17,125,582 (GRCm39) N4K possibly damaging Het
Plxna4 A T 6: 32,134,950 (GRCm39) I1751N probably damaging Het
Postn C A 3: 54,274,997 (GRCm39) S122* probably null Het
Ppp4r4 A T 12: 103,579,074 (GRCm39) R762* probably null Het
Rrm1 G T 7: 102,116,274 (GRCm39) probably null Het
Rrp15 A G 1: 186,468,431 (GRCm39) V195A probably benign Het
Rtl1 T A 12: 109,558,089 (GRCm39) D1250V probably damaging Het
Rxrg T C 1: 167,458,788 (GRCm39) probably benign Het
Scn10a T C 9: 119,494,994 (GRCm39) K416E probably benign Het
Serping1 T C 2: 84,600,425 (GRCm39) probably benign Het
Slc12a6 T C 2: 112,166,269 (GRCm39) probably null Het
Smo A T 6: 29,759,585 (GRCm39) Q639L possibly damaging Het
Synrg T C 11: 83,873,014 (GRCm39) probably benign Het
Tars2 T C 3: 95,649,971 (GRCm39) D470G probably damaging Het
Tln1 T C 4: 43,542,709 (GRCm39) N1399S possibly damaging Het
Tmem131 A G 1: 36,877,119 (GRCm39) V240A probably damaging Het
Tmem232 G A 17: 65,689,615 (GRCm39) T500I probably benign Het
Toporsl G A 4: 52,612,140 (GRCm39) V678M possibly damaging Het
Vmn1r7 A T 6: 57,002,066 (GRCm39) F65I probably damaging Het
Wdfy4 C T 14: 32,764,578 (GRCm39) M2257I probably benign Het
Wdr20rt T A 12: 65,274,089 (GRCm39) D344E probably benign Het
Xirp2 C T 2: 67,344,758 (GRCm39) A2333V probably benign Het
Zfyve16 T C 13: 92,631,452 (GRCm39) K1381R probably benign Het
Zscan18 G T 7: 12,508,103 (GRCm39) P466T 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
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
R1741:Padi4 UTSW 4 140,473,481 (GRCm39) missense probably damaging 1.00
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
Posted On 2013-08-20