Incidental Mutation 'IGL02600:Padi3'
ID 300045
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Padi3
Ensembl Gene ENSMUSG00000025328
Gene Name peptidyl arginine deiminase, type III
Synonyms Pdi3, Pad3, PAD type III
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02600
Quality Score
Chromosome 4
Chromosomal Location 140512680-140537959 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 140525467 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 172 (V172A)
Ref Sequence ENSEMBL: ENSMUSP00000130721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026377] [ENSMUST00000172098]
AlphaFold Q9Z184
Predicted Effect probably benign
Transcript: ENSMUST00000026377
AA Change: V182A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000026377
Gene: ENSMUSG00000025328
AA Change: V182A

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: ENSMUST00000172098
AA Change: V172A

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000130721
Gene: ENSMUSG00000025328
AA Change: V172A

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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T G 11: 110,200,264 (GRCm39) I483L probably benign Het
Bmpr1b A C 3: 141,546,488 (GRCm39) M466R probably damaging Het
Casp8ap2 G A 4: 32,630,246 (GRCm39) D42N probably null Het
Crebbp T A 16: 3,972,882 (GRCm39) T271S probably benign Het
Ddx27 A G 2: 166,868,124 (GRCm39) H319R probably damaging Het
Dync2i2 T A 2: 29,923,314 (GRCm39) D263V possibly damaging Het
Gckr A G 5: 31,462,374 (GRCm39) M236V probably benign Het
Gm28044 A C 13: 67,469,025 (GRCm39) probably benign Het
Gmnc T A 16: 26,781,641 (GRCm39) probably benign Het
Gpx3 C A 11: 54,800,433 (GRCm39) D210E possibly damaging Het
Lpin2 A G 17: 71,545,693 (GRCm39) N513S probably damaging Het
Myh3 C T 11: 66,974,227 (GRCm39) R170C probably damaging Het
Nrxn3 G T 12: 89,478,682 (GRCm39) probably benign Het
Nynrin A G 14: 56,101,449 (GRCm39) I373V probably benign Het
Or13a21 T C 7: 139,998,862 (GRCm39) T275A probably benign Het
Or6b6 A G 7: 106,570,756 (GRCm39) I265T possibly damaging Het
Pdzd2 C A 15: 12,411,105 (GRCm39) G554W probably damaging Het
Plekhg6 G A 6: 125,347,563 (GRCm39) R464* probably null Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Serinc1 A G 10: 57,399,127 (GRCm39) S259P probably benign Het
Slfn4 T A 11: 83,077,832 (GRCm39) S207T possibly damaging Het
Stab2 C T 10: 86,790,123 (GRCm39) G548R probably damaging Het
Tmem229b-ps T C 10: 53,351,052 (GRCm39) noncoding transcript Het
Ttn G A 2: 76,570,509 (GRCm39) P26795S probably damaging Het
Vmn2r96 A G 17: 18,817,829 (GRCm39) M661V probably benign Het
Ybey G A 10: 76,300,165 (GRCm39) probably benign Het
Zbtb17 A G 4: 141,194,196 (GRCm39) D715G possibly damaging Het
Zgrf1 T C 3: 127,394,623 (GRCm39) probably benign Het
Other mutations in Padi3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00482:Padi3 APN 4 140,530,935 (GRCm39) missense possibly damaging 0.78
IGL00948:Padi3 APN 4 140,516,254 (GRCm39) missense possibly damaging 0.92
IGL00949:Padi3 APN 4 140,516,254 (GRCm39) missense possibly damaging 0.92
IGL01021:Padi3 APN 4 140,523,645 (GRCm39) splice site probably benign
IGL02400:Padi3 APN 4 140,516,179 (GRCm39) missense probably benign 0.00
IGL02449:Padi3 APN 4 140,517,023 (GRCm39) critical splice donor site probably null
IGL03342:Padi3 APN 4 140,537,909 (GRCm39) nonsense probably null
FR4304:Padi3 UTSW 4 140,520,283 (GRCm39) critical splice donor site probably benign
PIT4544001:Padi3 UTSW 4 140,518,794 (GRCm39) missense probably benign 0.00
R0455:Padi3 UTSW 4 140,523,024 (GRCm39) missense probably damaging 1.00
R0743:Padi3 UTSW 4 140,513,740 (GRCm39) missense probably benign 0.00
R1279:Padi3 UTSW 4 140,530,888 (GRCm39) missense probably benign 0.00
R2081:Padi3 UTSW 4 140,526,290 (GRCm39) missense probably damaging 1.00
R3016:Padi3 UTSW 4 140,513,898 (GRCm39) missense probably damaging 1.00
R3853:Padi3 UTSW 4 140,518,580 (GRCm39) splice site probably benign
R4599:Padi3 UTSW 4 140,525,422 (GRCm39) missense probably damaging 1.00
R4909:Padi3 UTSW 4 140,522,937 (GRCm39) missense probably damaging 1.00
R5370:Padi3 UTSW 4 140,537,849 (GRCm39) nonsense probably null
R5482:Padi3 UTSW 4 140,523,154 (GRCm39) missense probably damaging 0.99
R6084:Padi3 UTSW 4 140,523,154 (GRCm39) missense probably damaging 1.00
R6151:Padi3 UTSW 4 140,523,705 (GRCm39) missense probably damaging 1.00
R6277:Padi3 UTSW 4 140,518,472 (GRCm39) critical splice donor site probably null
R6343:Padi3 UTSW 4 140,530,819 (GRCm39) missense possibly damaging 0.58
R6749:Padi3 UTSW 4 140,523,164 (GRCm39) missense possibly damaging 0.94
R7096:Padi3 UTSW 4 140,527,435 (GRCm39) missense probably damaging 1.00
R7403:Padi3 UTSW 4 140,527,430 (GRCm39) missense probably benign
R7798:Padi3 UTSW 4 140,513,750 (GRCm39) missense probably benign
R7818:Padi3 UTSW 4 140,525,453 (GRCm39) missense possibly damaging 0.72
R8375:Padi3 UTSW 4 140,525,407 (GRCm39) missense probably damaging 1.00
R8887:Padi3 UTSW 4 140,523,795 (GRCm39) nonsense probably null
R9036:Padi3 UTSW 4 140,523,004 (GRCm39) missense probably benign 0.00
R9339:Padi3 UTSW 4 140,522,928 (GRCm39) missense probably benign 0.11
R9403:Padi3 UTSW 4 140,537,843 (GRCm39) missense probably benign
RF025:Padi3 UTSW 4 140,520,283 (GRCm39) critical splice donor site probably benign
RF032:Padi3 UTSW 4 140,520,283 (GRCm39) critical splice donor site probably benign
RF040:Padi3 UTSW 4 140,520,283 (GRCm39) critical splice donor site probably benign
RF043:Padi3 UTSW 4 140,520,283 (GRCm39) critical splice donor site probably benign
Z1176:Padi3 UTSW 4 140,525,434 (GRCm39) missense not run
Z1176:Padi3 UTSW 4 140,522,982 (GRCm39) missense possibly damaging 0.92
Z1177:Padi3 UTSW 4 140,525,434 (GRCm39) missense not run
Posted On 2015-04-16