Incidental Mutation 'R6277:Padi3'
ID 507700
Institutional Source Beutler Lab
Gene Symbol Padi3
Ensembl Gene ENSMUSG00000025328
Gene Name peptidyl arginine deiminase, type III
Synonyms Pdi3, Pad3, PAD type III
MMRRC Submission 044447-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6277 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 140512680-140537959 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 140518472 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000130721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026377] [ENSMUST00000172098]
AlphaFold Q9Z184
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
Meta Mutation Damage Score 0.9483 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.2%
Validation Efficiency 96% (70/73)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A G 14: 32,385,651 (GRCm39) Y105H possibly damaging Het
4921539E11Rik A T 4: 103,088,668 (GRCm39) Y179* probably null Het
Abca7 G C 10: 79,841,992 (GRCm39) V1042L probably benign Het
Adck5 C A 15: 76,477,463 (GRCm39) T99K possibly damaging Het
Adcy5 A G 16: 35,109,896 (GRCm39) T823A probably benign Het
Adra1d G T 2: 131,403,083 (GRCm39) R336S probably damaging Het
Arhgap39 A T 15: 76,619,337 (GRCm39) M749K probably damaging Het
Arid4a A G 12: 71,086,665 (GRCm39) R168G possibly damaging Het
Atxn10 A G 15: 85,275,893 (GRCm39) T317A probably benign Het
Bicc1 T C 10: 70,863,731 (GRCm39) K22E possibly damaging Het
Cacna1b T G 2: 24,620,808 (GRCm39) T281P probably damaging Het
Ccdc174 A T 6: 91,857,272 (GRCm39) Q26L probably damaging Het
Celf3 T C 3: 94,392,672 (GRCm39) C124R probably damaging Het
Cfap44 A G 16: 44,257,669 (GRCm39) E1068G probably benign Het
Crybg1 T A 10: 43,873,255 (GRCm39) E1284D probably benign Het
Dcbld2 T A 16: 58,272,119 (GRCm39) Y392N probably damaging Het
Dcbld2 C T 16: 58,285,866 (GRCm39) P675L probably damaging Het
Dnah12 A T 14: 26,492,439 (GRCm39) H1193L probably damaging Het
Efcab3 G C 11: 104,901,148 (GRCm39) E4422D possibly damaging Het
Ern2 A G 7: 121,785,330 (GRCm39) F16L probably benign Het
Fam163b G T 2: 27,002,763 (GRCm39) T78N probably benign Het
Fbxw21 A T 9: 108,974,623 (GRCm39) I299K possibly damaging Het
Foxg1 A G 12: 49,432,299 (GRCm39) N344S probably benign Het
Git2 A G 5: 114,871,308 (GRCm39) I202T probably damaging Het
Gm11595 G T 11: 99,663,510 (GRCm39) P57T unknown Het
Gm12258 G A 11: 58,745,113 (GRCm39) V15M probably damaging Het
Gm15056 C T 8: 21,390,914 (GRCm39) G40S probably damaging Het
Gnal C A 18: 67,346,143 (GRCm39) H274Q probably damaging Het
Hormad2 A T 11: 4,371,583 (GRCm39) probably null Het
Ighv7-2 A G 12: 113,876,087 (GRCm39) I6T probably benign Het
Irf9 A G 14: 55,845,109 (GRCm39) D323G probably benign Het
Klhl23 G T 2: 69,664,096 (GRCm39) D482Y probably damaging Het
Lama4 A G 10: 38,982,006 (GRCm39) N1745S probably damaging Het
Lct T A 1: 128,231,974 (GRCm39) Y625F probably benign Het
Lrrc26 T C 2: 25,180,116 (GRCm39) V39A probably benign Het
Mllt6 G A 11: 97,564,774 (GRCm39) A527T probably damaging Het
Mrgprb4 T A 7: 47,848,649 (GRCm39) D93V probably benign Het
Nlrp5 A G 7: 23,120,880 (GRCm39) D698G probably damaging Het
Or13p10 T A 4: 118,523,520 (GRCm39) S269T probably benign Het
Pacsin1 T A 17: 27,924,969 (GRCm39) probably null Het
Pcdha8 T C 18: 37,127,411 (GRCm39) I631T probably damaging Het
Pkn3 G A 2: 29,972,957 (GRCm39) G315D possibly damaging Het
Ppfibp1 T A 6: 146,907,422 (GRCm39) D228E probably benign Het
Prag1 G T 8: 36,613,745 (GRCm39) R1099L probably damaging Het
Pramel31 A G 4: 144,090,223 (GRCm39) E421G probably damaging Het
Prr36 A G 8: 4,264,746 (GRCm39) probably benign Het
Prrc2c A G 1: 162,541,883 (GRCm39) S369P probably benign Het
Ptprn2 A G 12: 116,839,800 (GRCm39) D441G probably benign Het
Slc9c1 G A 16: 45,427,204 (GRCm39) probably benign Het
Slit1 G A 19: 41,588,948 (GRCm39) T1513I possibly damaging Het
Smcr8 C T 11: 60,669,635 (GRCm39) T261M probably benign Het
Spata17 G A 1: 186,926,151 (GRCm39) R60* probably null Het
Speer4f1 A G 5: 17,681,241 (GRCm39) R40G probably damaging Het
Spns3 A G 11: 72,420,466 (GRCm39) V340A possibly damaging Het
Srgap3 T C 6: 112,716,344 (GRCm39) I595V probably benign Het
Srms G A 2: 180,848,038 (GRCm39) A489V possibly damaging Het
St3gal4 T C 9: 34,964,558 (GRCm39) N169S probably damaging Het
Taar5 T A 10: 23,847,169 (GRCm39) V189E probably damaging Het
Tbc1d32 G A 10: 56,071,525 (GRCm39) P333L probably benign Het
Tet3 G T 6: 83,345,066 (GRCm39) Y1790* probably null Het
Ticrr T A 7: 79,344,444 (GRCm39) H1436Q probably benign Het
Top6bl G T 19: 4,677,250 (GRCm39) S466* probably null Het
Ubl7 C T 9: 57,830,555 (GRCm39) L334F possibly damaging Het
Unc13a A G 8: 72,119,283 (GRCm39) probably null Het
Unc13c T C 9: 73,606,451 (GRCm39) D1303G probably damaging Het
Vmn2r114 A G 17: 23,509,954 (GRCm39) L842P possibly damaging Het
Vps35 G T 8: 85,987,857 (GRCm39) Q765K possibly damaging Het
Zfp87 G T 13: 74,520,643 (GRCm39) S145* probably null Het
Zgrf1 C T 3: 127,392,461 (GRCm39) A1327V possibly damaging Het
Zkscan6 T A 11: 65,718,983 (GRCm39) S334R 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
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
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
Predicted Primers PCR Primer
(F):5'- AACACTAAACCTGTGCCCGG -3'
(R):5'- TAGACAAGCCTTGGCCTCTAGG -3'

Sequencing Primer
(F):5'- TTCTGAGCAGAGCCCGGATG -3'
(R):5'- AGCCTTGGCCTCTAGGGTTAG -3'
Posted On 2018-03-15