Incidental Mutation 'IGL02449:Padi3'
ID294103
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Padi3
Ensembl Gene ENSMUSG00000025328
Gene Namepeptidyl arginine deiminase, type III
SynonymsPAD type III, Pdi3, Pad3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02449
Quality Score
Status
Chromosome4
Chromosomal Location140785365-140810648 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 140789712 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000130721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026377] [ENSMUST00000172098]
Predicted Effect probably null
Transcript: ENSMUST00000026377
SMART Domains Protein: ENSMUSP00000026377
Gene: ENSMUSG00000025328

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000172098
SMART Domains Protein: ENSMUSP00000130721
Gene: ENSMUSG00000025328

DomainStartEndE-ValueType
Pfam:PAD_N 14 103 3.9e-29 PFAM
Pfam:PAD_M 105 263 2.9e-69 PFAM
Pfam:PAD 268 654 5.3e-226 PFAM
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 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
Abca12 A T 1: 71,401,749 probably null Het
Akap6 A G 12: 53,140,188 T1462A probably damaging Het
Arl6ip6 T C 2: 53,192,526 probably benign Het
Ascc3 A T 10: 50,700,599 Q883H probably benign Het
Atp11a T A 8: 12,757,358 probably null Het
Cds1 G A 5: 101,815,928 G371D probably damaging Het
Col12a1 A G 9: 79,641,469 L2198P probably damaging Het
Cyp2d22 C T 15: 82,373,241 G241D probably benign Het
Dapk1 T C 13: 60,719,770 probably benign Het
Dera T A 6: 137,780,817 probably null Het
Efcab6 A G 15: 84,010,033 V186A probably benign Het
Gm9637 T A 14: 19,402,436 noncoding transcript Het
Gpr180 T C 14: 118,160,120 L342P probably damaging Het
Heg1 T C 16: 33,738,725 probably null Het
Kcnab2 C A 4: 152,411,984 probably null Het
Lax1 A G 1: 133,680,136 V289A probably damaging Het
Ly6k T G 15: 74,797,085 D115A probably benign Het
Mcc A C 18: 44,459,958 I670S probably benign Het
Mpdz C A 4: 81,329,422 probably null Het
Mrgprb8 T A 7: 48,388,683 L34* probably null Het
Mtor T A 4: 148,533,921 H1730Q possibly damaging Het
Muc4 C T 16: 32,756,129 probably benign Het
Myh8 T C 11: 67,294,614 probably null Het
Naip5 A T 13: 100,222,175 V851E probably benign Het
Neb T C 2: 52,201,906 I1277V probably benign Het
Nlrp9a T C 7: 26,564,971 M683T probably benign Het
Npr2 A G 4: 43,646,641 Y663C probably damaging Het
Pclo A G 5: 14,515,343 D41G probably damaging Het
Pds5a A T 5: 65,619,010 N80K probably damaging Het
Plec C T 15: 76,186,763 D812N possibly damaging Het
Psg20 A T 7: 18,684,408 probably benign Het
Ptch2 C A 4: 117,108,183 L322I possibly damaging Het
Ptprv T C 1: 135,111,336 noncoding transcript Het
Scn2b A G 9: 45,125,514 K107E probably damaging Het
Slc24a4 A C 12: 102,227,082 I226L probably benign Het
Spink4 A G 4: 40,929,190 M72V probably benign Het
Supt16 A T 14: 52,173,806 M676K possibly damaging Het
Svep1 A C 4: 58,070,296 C2497G possibly damaging Het
Tenm2 T A 11: 36,023,622 T2362S probably damaging Het
Tgm3 G T 2: 130,038,609 probably null Het
Trpa1 T A 1: 14,898,157 T462S probably damaging Het
Ucp2 G A 7: 100,498,810 V237M probably damaging Het
Vmn2r53 C A 7: 12,582,361 L510F probably damaging Het
Zan G A 5: 137,389,327 T4874M unknown Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Zfp974 T A 7: 27,911,727 Y191F probably benign Het
Other mutations in Padi3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00482:Padi3 APN 4 140803624 missense possibly damaging 0.78
IGL00948:Padi3 APN 4 140788943 missense possibly damaging 0.92
IGL00949:Padi3 APN 4 140788943 missense possibly damaging 0.92
IGL01021:Padi3 APN 4 140796334 splice site probably benign
IGL02400:Padi3 APN 4 140788868 missense probably benign 0.00
IGL02600:Padi3 APN 4 140798156 missense probably benign 0.15
IGL03342:Padi3 APN 4 140810598 nonsense probably null
FR4304:Padi3 UTSW 4 140792972 critical splice donor site probably benign
PIT4544001:Padi3 UTSW 4 140791483 missense probably benign 0.00
R0455:Padi3 UTSW 4 140795713 missense probably damaging 1.00
R0743:Padi3 UTSW 4 140786429 missense probably benign 0.00
R1279:Padi3 UTSW 4 140803577 missense probably benign 0.00
R2081:Padi3 UTSW 4 140798979 missense probably damaging 1.00
R3016:Padi3 UTSW 4 140786587 missense probably damaging 1.00
R3853:Padi3 UTSW 4 140791269 splice site probably benign
R4599:Padi3 UTSW 4 140798111 missense probably damaging 1.00
R4909:Padi3 UTSW 4 140795626 missense probably damaging 1.00
R5370:Padi3 UTSW 4 140810538 nonsense probably null
R5482:Padi3 UTSW 4 140795843 missense probably damaging 0.99
R6084:Padi3 UTSW 4 140795843 missense probably damaging 1.00
R6151:Padi3 UTSW 4 140796394 missense probably damaging 1.00
R6277:Padi3 UTSW 4 140791161 critical splice donor site probably null
R6343:Padi3 UTSW 4 140803508 missense possibly damaging 0.58
R6749:Padi3 UTSW 4 140795853 missense possibly damaging 0.94
R7096:Padi3 UTSW 4 140800124 missense probably damaging 1.00
R7403:Padi3 UTSW 4 140800119 missense probably benign
R7798:Padi3 UTSW 4 140786439 missense probably benign
R7818:Padi3 UTSW 4 140798142 missense possibly damaging 0.72
R8375:Padi3 UTSW 4 140798096 missense probably damaging 1.00
RF025:Padi3 UTSW 4 140792972 critical splice donor site probably benign
RF032:Padi3 UTSW 4 140792972 critical splice donor site probably benign
RF040:Padi3 UTSW 4 140792972 critical splice donor site probably benign
RF043:Padi3 UTSW 4 140792972 critical splice donor site probably benign
Z1176:Padi3 UTSW 4 140795671 missense possibly damaging 0.92
Z1176:Padi3 UTSW 4 140798123 missense not run
Z1177:Padi3 UTSW 4 140798123 missense not run
Posted On2015-04-16