Incidental Mutation 'IGL00948:Padi3'
ID 278104
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 # IGL00948
Quality Score
Chromosome 4
Chromosomal Location 140512680-140537959 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 140516254 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 542 (R542L)
Ref Sequence ENSEMBL: ENSMUSP00000130721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026377] [ENSMUST00000172098]
AlphaFold Q9Z184
Predicted Effect possibly damaging
Transcript: ENSMUST00000026377
AA Change: R552L

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000026377
Gene: ENSMUSG00000025328
AA Change: R552L

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 possibly damaging
Transcript: ENSMUST00000172098
AA Change: R542L

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000130721
Gene: ENSMUSG00000025328
AA Change: R542L

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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccl2 A T 11: 81,926,558 (GRCm39) Q24L possibly damaging Het
Cd33 G A 7: 43,178,982 (GRCm39) probably benign Het
Cmya5 T C 13: 93,227,544 (GRCm39) I2515V probably benign Het
Cntnap5b A G 1: 100,069,082 (GRCm39) T101A probably benign Het
Cyp4a12a T A 4: 115,159,159 (GRCm39) M143K probably damaging Het
Ephb4 C A 5: 137,364,921 (GRCm39) S663R probably damaging Het
Gm4847 T C 1: 166,457,907 (GRCm39) D482G probably benign Het
Gskip C A 12: 105,665,103 (GRCm39) N47K probably damaging Het
Kmt2c T C 5: 25,582,159 (GRCm39) Y473C probably benign Het
Lrrc7 T A 3: 157,867,194 (GRCm39) N849I probably damaging Het
Magel2 T A 7: 62,029,070 (GRCm39) V658E unknown Het
Nmral1 C T 16: 4,534,270 (GRCm39) G57E probably damaging Het
Or6c211 A T 10: 129,505,756 (GRCm39) L211I probably damaging Het
Or8b54 C T 9: 38,687,108 (GRCm39) Q186* probably null Het
Plrg1 T C 3: 82,975,426 (GRCm39) V260A probably damaging Het
Prex2 A G 1: 11,240,838 (GRCm39) H982R probably damaging Het
Rbm26 T A 14: 105,387,779 (GRCm39) T448S probably damaging Het
Ryr1 C T 7: 28,719,620 (GRCm39) M4262I possibly damaging Het
Slc41a3 A T 6: 90,622,696 (GRCm39) D441V probably damaging Het
Slc7a2 A G 8: 41,365,561 (GRCm39) E448G probably benign Het
Smtnl2 C A 11: 72,302,067 (GRCm39) probably null Het
Tox3 G A 8: 90,997,062 (GRCm39) P66L probably damaging Het
Vmn1r19 T C 6: 57,382,247 (GRCm39) F267L probably benign Het
Vmn2r12 A G 5: 109,245,541 (GRCm39) S64P possibly damaging Het
Zfp764 T C 7: 127,004,376 (GRCm39) S252G possibly damaging Het
Other mutations in Padi3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00482:Padi3 APN 4 140,530,935 (GRCm39) missense possibly damaging 0.78
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
IGL02600:Padi3 APN 4 140,525,467 (GRCm39) missense probably benign 0.15
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