Incidental Mutation 'IGL00949:Padi3'
ID278106
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 #IGL00949
Quality Score
Status
Chromosome4
Chromosomal Location140785365-140810648 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 140788943 bp
ZygosityHeterozygous
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]
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

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 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

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl4 A G X: 142,343,329 C303R probably damaging Het
Als2 C T 1: 59,215,572 G209S probably damaging Het
Ankrd11 T C 8: 122,908,728 T56A possibly damaging Het
Arnt T A 3: 95,487,268 I381N probably damaging Het
Atp13a1 T C 8: 69,800,003 probably benign Het
Cd180 A T 13: 102,693,760 T21S possibly damaging Het
Cdc27 T C 11: 104,529,403 Y138C probably damaging Het
Dhx16 A G 17: 35,887,934 T753A probably benign Het
Dnah1 A G 14: 31,307,090 M561T probably benign Het
Dsc3 C A 18: 19,985,631 G259C probably null Het
Enox2 A T X: 49,040,607 D346E probably benign Het
Exoc3l T C 8: 105,290,498 E619G probably benign Het
Exosc9 T C 3: 36,563,266 probably benign Het
Gmpr2 C T 14: 55,676,750 probably benign Het
Golga1 T C 2: 39,041,255 E289G probably damaging Het
Hist1h3a G A 13: 23,762,031 T108I probably damaging Het
Jmy A G 13: 93,454,002 V531A probably damaging Het
Lamp2 T C X: 38,435,473 N156S probably benign Het
Lrrn1 C A 6: 107,569,300 N686K probably benign Het
Lyst T C 13: 13,635,485 V580A possibly damaging Het
Ms4a8a C A 19: 11,079,444 L91F probably benign Het
Naip2 A G 13: 100,161,591 F646L probably damaging Het
Npat T C 9: 53,563,362 V818A probably benign Het
Olfr1362 A T 13: 21,611,351 I206N probably damaging Het
Pid1 A G 1: 84,038,506 V46A probably damaging Het
Pld5 A T 1: 175,975,473 C409S probably damaging Het
Plet1 A G 9: 50,499,223 T105A possibly damaging Het
Polrmt T C 10: 79,737,597 probably null Het
Pp2d1 T C 17: 53,515,639 N133S probably benign Het
Prpf40b G T 15: 99,306,538 V228L probably benign Het
Ptgfrn A T 3: 101,072,845 M393K probably benign Het
Slc9a1 C T 4: 133,416,451 T416I probably benign Het
Slc9c1 T C 16: 45,593,358 S950P probably benign Het
Slitrk1 A T 14: 108,911,809 V490D probably damaging Het
Th T C 7: 142,897,026 Y131C probably benign Het
Tlr6 A G 5: 64,953,512 L684P probably damaging Het
Tpm3 A G 3: 90,089,858 E234G probably damaging Het
Tti1 A G 2: 157,982,399 Y1045H probably benign Het
Txnl4b T A 8: 109,569,075 V37D probably benign Het
Ufl1 A T 4: 25,275,822 F194I probably damaging Het
Usp13 G A 3: 32,886,577 E412K possibly damaging Het
Usp46 A T 5: 74,003,242 L251Q possibly damaging 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
IGL01021:Padi3 APN 4 140796334 splice site probably benign
IGL02400:Padi3 APN 4 140788868 missense probably benign 0.00
IGL02449:Padi3 APN 4 140789712 critical splice donor site probably null
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
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