Incidental Mutation 'R9403:Padi3'
ID 711333
Institutional Source Beutler Lab
Gene Symbol Padi3
Ensembl Gene ENSMUSG00000025328
Gene Name peptidyl arginine deiminase, type III
Synonyms PAD type III, Pdi3, Pad3
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9403 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 140785365-140810648 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 140810532 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 26 (I26V)
Ref Sequence ENSEMBL: ENSMUSP00000026377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026377] [ENSMUST00000026378]
AlphaFold Q9Z184
Predicted Effect probably benign
Transcript: ENSMUST00000026377
AA Change: I26V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000026377
Gene: ENSMUSG00000025328
AA Change: I26V

Pfam:PAD_N 1 113 2.1e-38 PFAM
Pfam:PAD_M 115 273 4.2e-61 PFAM
Pfam:PAD 283 661 2.3e-169 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000026378
SMART Domains Protein: ENSMUSP00000026378
Gene: ENSMUSG00000025329

Pfam:PAD_N 1 113 5.4e-39 PFAM
Pfam:PAD_M 115 272 1.3e-63 PFAM
Pfam:PAD 280 659 9.4e-170 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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 III enzyme modulates hair structural proteins, such as filaggrin in the hair follicle and trichohyalin in the inner root sheath, during hair follicle formation. Together with the type I enzyme, this enzyme may also play a role in terminal differentiation of the epidermis. 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 alterations in coat/ hair and vibrissa morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123L14Rik T G 6: 96,165,299 (GRCm38) T255P probably benign Het
4930444G20Rik C T 10: 22,067,941 (GRCm38) D47N possibly damaging Het
Angpt4 C T 2: 151,938,972 (GRCm38) T380M probably damaging Het
Apoa5 G C 9: 46,270,646 (GRCm38) R340P probably damaging Het
Cyp3a41a T A 5: 145,702,198 (GRCm38) Y320F probably damaging Het
Dmtf1 A G 5: 9,121,927 (GRCm38) L503S possibly damaging Het
Dock1 T C 7: 135,168,396 (GRCm38) V1795A probably benign Het
Dpys C G 15: 39,828,071 (GRCm38) W285S probably damaging Het
Fam187b T C 7: 30,977,090 (GRCm38) V8A Het
Fbn2 T C 18: 58,066,107 (GRCm38) E1363G probably damaging Het
Glg1 C T 8: 111,187,793 (GRCm38) R453Q probably benign Het
Gm5591 T C 7: 38,522,256 (GRCm38) T130A probably damaging Het
Gm5591 T A 7: 38,520,148 (GRCm38) M434L probably benign Het
Gpld1 G A 13: 24,979,729 (GRCm38) V502I probably benign Het
Inhba A G 13: 16,017,381 (GRCm38) H29R probably benign Het
Itga4 T A 2: 79,325,660 (GRCm38) I990N possibly damaging Het
Kcnma1 T A 14: 23,543,077 (GRCm38) I280L probably benign Het
Malrd1 T C 2: 15,614,177 (GRCm38) V284A Het
Maml2 C T 9: 13,621,673 (GRCm38) Q728* probably null Het
Mkln1 T C 6: 31,432,970 (GRCm38) L181P probably damaging Het
Mms22l T C 4: 24,580,204 (GRCm38) probably null Het
Muc16 A G 9: 18,537,764 (GRCm38) probably null Het
Mylk C A 16: 34,875,642 (GRCm38) S249* probably null Het
Naa35 G A 13: 59,601,003 (GRCm38) A150T possibly damaging Het
Naip5 T A 13: 100,219,830 (GRCm38) E1092D probably benign Het
Nup205 G A 6: 35,199,974 (GRCm38) R635H probably benign Het
Olfr263 T C 13: 21,133,695 (GRCm38) F307L probably benign Het
Olfr723 T C 14: 49,929,449 (GRCm38) T32A probably benign Het
Polq T C 16: 37,061,853 (GRCm38) S1460P probably benign Het
Ptgdr A G 14: 44,853,258 (GRCm38) S348P Het
Qsox1 A G 1: 155,782,597 (GRCm38) S409P probably damaging Het
Rergl T A 6: 139,494,854 (GRCm38) Y99F possibly damaging Het
Rptn C A 3: 93,395,042 (GRCm38) H22N probably benign Het
Slc2a3 A C 6: 122,736,610 (GRCm38) I214M probably damaging Het
Slc5a7 A T 17: 54,276,641 (GRCm38) N540K probably benign Het
Slco6c1 A T 1: 97,062,523 (GRCm38) S664R possibly damaging Het
Tgm4 C A 9: 123,052,772 (GRCm38) S344R probably damaging Het
Trim61 T A 8: 65,014,576 (GRCm38) Q11L probably damaging Het
Trpm6 C A 19: 18,832,652 (GRCm38) D1137E possibly damaging Het
Txndc2 G A 17: 65,637,997 (GRCm38) T395I probably damaging Het
Txndc9 T C 1: 37,995,778 (GRCm38) E15G probably benign Het
Vcpip1 A G 1: 9,745,824 (GRCm38) I778T possibly damaging Het
Zfp383 T C 7: 29,915,259 (GRCm38) F313S possibly damaging Het
Other mutations in Padi3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00482:Padi3 APN 4 140,803,624 (GRCm38) missense possibly damaging 0.78
IGL00948:Padi3 APN 4 140,788,943 (GRCm38) missense possibly damaging 0.92
IGL00949:Padi3 APN 4 140,788,943 (GRCm38) missense possibly damaging 0.92
IGL01021:Padi3 APN 4 140,796,334 (GRCm38) splice site probably benign
IGL02400:Padi3 APN 4 140,788,868 (GRCm38) missense probably benign 0.00
IGL02449:Padi3 APN 4 140,789,712 (GRCm38) critical splice donor site probably null
IGL02600:Padi3 APN 4 140,798,156 (GRCm38) missense probably benign 0.15
IGL03342:Padi3 APN 4 140,810,598 (GRCm38) nonsense probably null
FR4304:Padi3 UTSW 4 140,792,972 (GRCm38) critical splice donor site probably benign
PIT4544001:Padi3 UTSW 4 140,791,483 (GRCm38) missense probably benign 0.00
R0455:Padi3 UTSW 4 140,795,713 (GRCm38) missense probably damaging 1.00
R0743:Padi3 UTSW 4 140,786,429 (GRCm38) missense probably benign 0.00
R1279:Padi3 UTSW 4 140,803,577 (GRCm38) missense probably benign 0.00
R2081:Padi3 UTSW 4 140,798,979 (GRCm38) missense probably damaging 1.00
R3016:Padi3 UTSW 4 140,786,587 (GRCm38) missense probably damaging 1.00
R3853:Padi3 UTSW 4 140,791,269 (GRCm38) splice site probably benign
R4599:Padi3 UTSW 4 140,798,111 (GRCm38) missense probably damaging 1.00
R4909:Padi3 UTSW 4 140,795,626 (GRCm38) missense probably damaging 1.00
R5370:Padi3 UTSW 4 140,810,538 (GRCm38) nonsense probably null
R5482:Padi3 UTSW 4 140,795,843 (GRCm38) missense probably damaging 0.99
R6084:Padi3 UTSW 4 140,795,843 (GRCm38) missense probably damaging 1.00
R6151:Padi3 UTSW 4 140,796,394 (GRCm38) missense probably damaging 1.00
R6277:Padi3 UTSW 4 140,791,161 (GRCm38) critical splice donor site probably null
R6343:Padi3 UTSW 4 140,803,508 (GRCm38) missense possibly damaging 0.58
R6749:Padi3 UTSW 4 140,795,853 (GRCm38) missense possibly damaging 0.94
R7096:Padi3 UTSW 4 140,800,124 (GRCm38) missense probably damaging 1.00
R7403:Padi3 UTSW 4 140,800,119 (GRCm38) missense probably benign
R7798:Padi3 UTSW 4 140,786,439 (GRCm38) missense probably benign
R7818:Padi3 UTSW 4 140,798,142 (GRCm38) missense possibly damaging 0.72
R8375:Padi3 UTSW 4 140,798,096 (GRCm38) missense probably damaging 1.00
R8887:Padi3 UTSW 4 140,796,484 (GRCm38) nonsense probably null
R9036:Padi3 UTSW 4 140,795,693 (GRCm38) missense probably benign 0.00
R9339:Padi3 UTSW 4 140,795,617 (GRCm38) missense probably benign 0.11
RF025:Padi3 UTSW 4 140,792,972 (GRCm38) critical splice donor site probably benign
RF032:Padi3 UTSW 4 140,792,972 (GRCm38) critical splice donor site probably benign
RF040:Padi3 UTSW 4 140,792,972 (GRCm38) critical splice donor site probably benign
RF043:Padi3 UTSW 4 140,792,972 (GRCm38) critical splice donor site probably benign
Z1176:Padi3 UTSW 4 140,798,123 (GRCm38) missense not run
Z1176:Padi3 UTSW 4 140,795,671 (GRCm38) missense possibly damaging 0.92
Z1177:Padi3 UTSW 4 140,798,123 (GRCm38) missense not run
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2022-05-16