Incidental Mutation 'R1164:Padi1'
ID100801
Institutional Source Beutler Lab
Gene Symbol Padi1
Ensembl Gene ENSMUSG00000025329
Gene Namepeptidyl arginine deiminase, type I
SynonymsPad type 1, Pdi1
MMRRC Submission 039237-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.234) question?
Stock #R1164 (G1)
Quality Score225
Status Not validated
Chromosome4
Chromosomal Location140812983-140845778 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 140832329 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 79 (V79E)
Ref Sequence ENSEMBL: ENSMUSP00000026378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026378]
Predicted Effect possibly damaging
Transcript: ENSMUST00000026378
AA Change: V79E

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000026378
Gene: ENSMUSG00000025329
AA Change: V79E

DomainStartEndE-ValueType
Pfam:PAD_N 1 113 5.4e-39 PFAM
Pfam:PAD_M 115 272 1.3e-63 PFAM
Pfam:PAD 280 659 9.4e-170 PFAM
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.8%
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 I enzyme is involved in the late stages of epidermal differentiation, where it deiminates filaggrin and keratin K1, which maintains hydration of the stratum corneum, and hence the cutaneous barrier function. This enzyme may also play a role in hair follicle formation. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,402,331 M1055K probably damaging Het
Adprh A T 16: 38,450,340 D34E probably benign Het
Aldh1a1 A T 19: 20,617,946 M80L probably benign Het
Arap2 T A 5: 62,683,477 D682V probably damaging Het
Atp4a T A 7: 30,717,692 L500Q probably benign Het
Atp6v1c2 T C 12: 17,308,316 E10G probably damaging Het
B4galt2 G A 4: 117,876,944 R299W possibly damaging Het
Brinp1 A C 4: 68,798,691 S307A probably benign Het
Cacna2d1 G A 5: 16,361,876 probably null Het
Ccdc3 T C 2: 5,141,266 V137A possibly damaging Het
Ccnb1ip1 T C 14: 50,792,137 K156R possibly damaging Het
Cfap77 A T 2: 28,962,688 W191R probably damaging Het
Chga A G 12: 102,563,045 E427G probably damaging Het
Chrnd A T 1: 87,192,545 Y32F probably benign Het
Cks1b C A 3: 89,415,942 probably benign Het
Creld2 G A 15: 88,820,631 W103* probably null Het
Dip2a C A 10: 76,276,397 R1098L possibly damaging Het
Dmbx1 T A 4: 115,918,258 H275L probably damaging Het
Dmrt2 A G 19: 25,677,993 M319V possibly damaging Het
Dock8 A G 19: 25,090,027 Y345C probably benign Het
Dpp6 A G 5: 27,721,105 T668A probably benign Het
Eef1d A G 15: 75,902,677 probably null Het
Epb41l3 A G 17: 69,274,767 T568A possibly damaging Het
Erc2 A G 14: 28,302,972 R603G probably damaging Het
Fam83d T C 2: 158,783,250 S254P probably damaging Het
Fcgr4 A T 1: 171,029,170 H202L possibly damaging Het
Gm38394 G A 1: 133,659,203 T132I probably damaging Het
Gm4922 C T 10: 18,783,721 A418T possibly damaging Het
Kmo A G 1: 175,658,559 H416R probably benign Het
Lao1 A G 4: 118,965,405 N174S probably benign Het
Lrwd1 A T 5: 136,130,990 H406Q probably benign Het
Magoh A G 4: 107,887,262 I143V probably benign Het
Mpz A G 1: 171,158,439 H49R possibly damaging Het
Nav1 T C 1: 135,472,410 N474S probably benign Het
Ndufb10 T G 17: 24,722,783 E68D probably benign Het
Obscn T C 11: 59,036,087 D5534G possibly damaging Het
Olfr1076 C A 2: 86,508,684 T75K probably damaging Het
Olfr126 T A 17: 37,850,684 F31I probably damaging Het
Olfr1425 A T 19: 12,074,241 Y130* probably null Het
Olfr159 T C 4: 43,770,991 T7A probably benign Het
Olfr345 A T 2: 36,640,120 Y27F probably benign Het
Olfr685 A T 7: 105,180,833 F160Y probably benign Het
Pdha2 A G 3: 141,211,499 Y83H probably damaging Het
Phpt1 A G 2: 25,574,715 I42T probably damaging Het
Pot1b A C 17: 55,674,085 S310A probably benign Het
Ptpn13 G A 5: 103,489,773 V176I probably damaging Het
Ptprf A G 4: 118,257,492 S189P probably damaging Het
Rere A T 4: 150,534,884 Q381L unknown Het
Rfwd3 C T 8: 111,288,242 R326Q probably damaging Het
Scn8a G A 15: 101,040,162 C1804Y probably benign Het
Sema3c G A 5: 17,678,314 D307N probably benign Het
Siah2 T C 3: 58,676,316 E183G probably benign Het
Smarca5 G A 8: 80,710,631 L699F probably damaging Het
Smo T A 6: 29,754,719 S263T probably benign Het
Sox2 A G 3: 34,650,699 E95G probably damaging Het
T T C 17: 8,439,939 S171P probably benign Het
Tmc7 G T 7: 118,542,024 A628D probably benign Het
Tmem45a2 A G 16: 57,049,426 S52P probably damaging Het
Tubb3 C T 8: 123,421,447 A373V probably damaging Het
Uhrf1bp1 T C 17: 27,895,380 probably null Het
Upp2 A G 2: 58,763,704 Y69C probably damaging Het
Utp4 A G 8: 106,900,844 probably null Het
Vmn1r59 T A 7: 5,454,411 M117L probably benign Het
Xkr8 T C 4: 132,732,411 S19G probably benign Het
Zbtb24 T C 10: 41,464,527 Y518H probably damaging Het
Zfp324 T C 7: 12,971,624 I580T probably benign Het
Zfp995 G A 17: 21,879,979 H425Y probably damaging Het
Other mutations in Padi1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01844:Padi1 APN 4 140829435 missense probably damaging 1.00
IGL01972:Padi1 APN 4 140818859 splice site probably benign
IGL03260:Padi1 APN 4 140828194 missense probably benign 0.11
R0598:Padi1 UTSW 4 140814787 missense possibly damaging 0.84
R1793:Padi1 UTSW 4 140814656 missense probably damaging 1.00
R4208:Padi1 UTSW 4 140817227 missense possibly damaging 0.80
R4256:Padi1 UTSW 4 140814778 missense probably damaging 1.00
R4484:Padi1 UTSW 4 140817270 intron probably benign
R4926:Padi1 UTSW 4 140824847 missense probably damaging 0.99
R4967:Padi1 UTSW 4 140845590 missense probably benign 0.00
R5066:Padi1 UTSW 4 140829437 missense probably damaging 1.00
R5523:Padi1 UTSW 4 140814853 missense probably damaging 1.00
R5622:Padi1 UTSW 4 140824955 missense probably damaging 1.00
R5850:Padi1 UTSW 4 140814830 missense probably benign 0.03
R5870:Padi1 UTSW 4 140826581 missense probably benign 0.39
R5951:Padi1 UTSW 4 140814829 missense probably damaging 1.00
R6187:Padi1 UTSW 4 140826965 missense probably damaging 1.00
X0024:Padi1 UTSW 4 140828167 missense probably benign 0.01
Predicted Primers
Posted On2014-01-15