Incidental Mutation 'R6187:Padi1'
ID 502225
Institutional Source Beutler Lab
Gene Symbol Padi1
Ensembl Gene ENSMUSG00000025329
Gene Name peptidyl arginine deiminase, type I
Synonyms Pad type 1, Pdi1
MMRRC Submission 044327-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # R6187 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 140540294-140573089 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 140554276 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 310 (V310M)
Ref Sequence ENSEMBL: ENSMUSP00000026378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026378]
AlphaFold Q9Z185
Predicted Effect probably damaging
Transcript: ENSMUST00000026378
AA Change: V310M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000026378
Gene: ENSMUSG00000025329
AA Change: V310M

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 99% (79/80)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,259,085 (GRCm39) L2937H probably damaging Het
Abca3 A G 17: 24,627,141 (GRCm39) I1281V possibly damaging Het
Adam2 A T 14: 66,306,068 (GRCm39) S138T possibly damaging Het
Adamts4 C T 1: 171,078,562 (GRCm39) P61S probably damaging Het
Adamts6 C T 13: 104,433,933 (GRCm39) P121S probably damaging Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Ak1 G A 2: 32,523,489 (GRCm39) V186M probably damaging Het
Alpk1 T C 3: 127,466,991 (GRCm39) Y1096C probably damaging Het
Ankrd29 A C 18: 12,412,747 (GRCm39) Y73* probably null Het
Asah2 A T 19: 32,002,267 (GRCm39) S292R probably damaging Het
Atp6v1b1 A T 6: 83,729,377 (GRCm39) T105S probably damaging Het
Axdnd1 T A 1: 156,193,182 (GRCm39) probably null Het
Bub1b T G 2: 118,461,481 (GRCm39) S678A probably damaging Het
Cdcp3 G A 7: 130,872,328 (GRCm39) probably benign Het
Cenpq T A 17: 41,238,089 (GRCm39) M142L probably benign Het
Ciz1 T A 2: 32,260,063 (GRCm39) V203E possibly damaging Het
Cmklr2 T C 1: 63,222,434 (GRCm39) E267G probably damaging Het
Col2a1 G T 15: 97,886,671 (GRCm39) T378N unknown Het
Cyp2c68 A T 19: 39,729,452 (GRCm39) S12T probably benign Het
Cyp4f18 C A 8: 72,747,030 (GRCm39) A322S probably damaging Het
Disp2 A G 2: 118,622,624 (GRCm39) S1119G probably damaging Het
Eif2ak4 C T 2: 118,287,638 (GRCm39) T1081M probably damaging Het
Faxc A G 4: 21,958,445 (GRCm39) T201A possibly damaging Het
Fbxw14 A G 9: 109,105,332 (GRCm39) S278P probably damaging Het
Fpr1 G T 17: 18,097,190 (GRCm39) C266* probably null Het
Fsip2 T C 2: 82,812,798 (GRCm39) I3039T probably benign Het
Gas1 G T 13: 60,324,186 (GRCm39) S190R possibly damaging Het
Gemin2 A G 12: 59,060,371 (GRCm39) T37A probably damaging Het
Gm21370 T C 13: 120,488,403 (GRCm39) I49V probably benign Het
Gm8444 T C 15: 81,727,807 (GRCm39) probably benign Het
Gria1 A G 11: 57,128,936 (GRCm39) D401G possibly damaging Het
Gstk1 G A 6: 42,226,794 (GRCm39) V187I possibly damaging Het
Hmcn1 T C 1: 150,506,479 (GRCm39) D3776G probably damaging Het
Itfg1 A C 8: 86,563,094 (GRCm39) V102G probably damaging Het
Kidins220 A G 12: 25,101,307 (GRCm39) probably null Het
Kif13b A C 14: 64,973,664 (GRCm39) D338A probably damaging Het
Mab21l2 T C 3: 86,454,565 (GRCm39) Y145C probably damaging Het
Magel2 A G 7: 62,027,389 (GRCm39) M98V unknown Het
Mdfic T C 6: 15,721,196 (GRCm39) probably benign Het
Minar1 A G 9: 89,473,220 (GRCm39) I897T probably damaging Het
Mlip G A 9: 77,137,764 (GRCm39) S381L probably damaging Het
Mycbp2 A G 14: 103,384,453 (GRCm39) L3475P probably damaging Het
Myh14 G A 7: 44,276,457 (GRCm39) T1216I probably damaging Het
Nfatc2 T A 2: 168,322,158 (GRCm39) I914F probably benign Het
Nup58 T C 14: 60,478,256 (GRCm39) probably null Het
Or10ag53 T A 2: 87,083,042 (GRCm39) S254T probably damaging Het
Or10al4 T C 17: 38,037,032 (GRCm39) L48P probably damaging Het
Or13a22 A G 7: 140,072,529 (GRCm39) probably benign Het
Or2y13 G T 11: 49,414,338 (GRCm39) probably benign Het
Or4l15 A G 14: 50,198,526 (GRCm39) M1T probably null Het
Or5p50 A T 7: 107,421,781 (GRCm39) N298K probably benign Het
Or7g20 A C 9: 18,946,689 (GRCm39) Q90P probably benign Het
Otx1 A T 11: 21,949,406 (GRCm39) L24H probably damaging Het
Oxr1 A G 15: 41,689,315 (GRCm39) Q513R probably damaging Het
Pard3 T C 8: 127,800,023 (GRCm39) L11S probably benign Het
Pcdhb14 A T 18: 37,581,497 (GRCm39) D201V probably damaging Het
Pcdhb7 A G 18: 37,475,622 (GRCm39) R253G probably benign Het
Plxnb2 C T 15: 89,051,461 (GRCm39) D253N probably damaging Het
Ppp2cb T C 8: 34,105,502 (GRCm39) S171P probably damaging Het
Prr5 C T 15: 84,577,973 (GRCm39) T94M probably damaging Het
Rp1 A G 1: 4,420,092 (GRCm39) F340S probably damaging Het
Rpa1 C G 11: 75,201,062 (GRCm39) G433A probably benign Het
Smg1 A T 7: 117,788,386 (GRCm39) probably benign Het
Sry C G Y: 2,662,975 (GRCm39) Q228H unknown Homo
Svep1 C T 4: 58,072,872 (GRCm39) G2146R probably damaging Het
Tas2r106 A G 6: 131,655,173 (GRCm39) M226T probably damaging Het
Tbk1 T C 10: 121,420,148 (GRCm39) I14V probably benign Het
Tekt4 G C 17: 25,691,197 (GRCm39) V168L probably damaging Het
Tnfaip1 T A 11: 78,418,372 (GRCm39) T232S probably damaging Het
Trio C T 15: 27,744,038 (GRCm39) probably null Het
Ttn T A 2: 76,774,781 (GRCm39) Y2133F unknown Het
Uap1l1 C T 2: 25,252,741 (GRCm39) R433H probably damaging Het
Ugt2b35 T C 5: 87,155,181 (GRCm39) F339L probably damaging Het
Unc5b T C 10: 60,608,003 (GRCm39) Y699C probably damaging Het
Vcpip1 T C 1: 9,795,005 (GRCm39) H1122R probably damaging Het
Vmn2r91 T C 17: 18,326,888 (GRCm39) V391A probably benign Het
Vps13c C T 9: 67,822,939 (GRCm39) R1327W probably damaging Het
Yes1 A G 5: 32,802,385 (GRCm39) Y100C probably damaging Het
Zfp407 A T 18: 84,577,134 (GRCm39) N1326K possibly damaging Het
Zfp518a G A 19: 40,903,890 (GRCm39) C1273Y probably benign Het
Zfr AGCAGCAGCAGCAGCTGCTGCTGCAGCAGCA AGCAGCAGCA 15: 12,146,317 (GRCm39) probably benign Het
Other mutations in Padi1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01844:Padi1 APN 4 140,556,746 (GRCm39) missense probably damaging 1.00
IGL01972:Padi1 APN 4 140,546,170 (GRCm39) splice site probably benign
IGL03260:Padi1 APN 4 140,555,505 (GRCm39) missense probably benign 0.11
R0598:Padi1 UTSW 4 140,542,098 (GRCm39) missense possibly damaging 0.84
R1164:Padi1 UTSW 4 140,559,640 (GRCm39) missense possibly damaging 0.50
R1793:Padi1 UTSW 4 140,541,967 (GRCm39) missense probably damaging 1.00
R4208:Padi1 UTSW 4 140,544,538 (GRCm39) missense possibly damaging 0.80
R4256:Padi1 UTSW 4 140,542,089 (GRCm39) missense probably damaging 1.00
R4484:Padi1 UTSW 4 140,544,581 (GRCm39) intron probably benign
R4926:Padi1 UTSW 4 140,552,158 (GRCm39) missense probably damaging 0.99
R4967:Padi1 UTSW 4 140,572,901 (GRCm39) missense probably benign 0.00
R5066:Padi1 UTSW 4 140,556,748 (GRCm39) missense probably damaging 1.00
R5523:Padi1 UTSW 4 140,542,164 (GRCm39) missense probably damaging 1.00
R5622:Padi1 UTSW 4 140,552,266 (GRCm39) missense probably damaging 1.00
R5850:Padi1 UTSW 4 140,542,141 (GRCm39) missense probably benign 0.03
R5870:Padi1 UTSW 4 140,553,892 (GRCm39) missense probably benign 0.39
R5951:Padi1 UTSW 4 140,542,140 (GRCm39) missense probably damaging 1.00
R7257:Padi1 UTSW 4 140,556,782 (GRCm39) missense probably damaging 1.00
R7326:Padi1 UTSW 4 140,559,715 (GRCm39) missense probably benign 0.15
R7339:Padi1 UTSW 4 140,556,545 (GRCm39) missense probably null 0.98
R8282:Padi1 UTSW 4 140,542,014 (GRCm39) missense probably damaging 1.00
R9083:Padi1 UTSW 4 140,559,602 (GRCm39) critical splice donor site probably null
R9590:Padi1 UTSW 4 140,544,552 (GRCm39) missense probably damaging 1.00
X0024:Padi1 UTSW 4 140,555,478 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TCCTCCTCAGGGGTTTTCAG -3'
(R):5'- GCTCTGTTCATGCACTGGTC -3'

Sequencing Primer
(F):5'- CCTCCTCAGGGGTTTTCAGGAAAG -3'
(R):5'- CACTGGTCATCTGATGTGATCTAAG -3'
Posted On 2018-02-27