Incidental Mutation 'R7326:Padi1'
ID 568879
Institutional Source Beutler Lab
Gene Symbol Padi1
Ensembl Gene ENSMUSG00000025329
Gene Name peptidyl arginine deiminase, type I
Synonyms Pad type 1, Pdi1
MMRRC Submission 045378-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # R7326 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 140540294-140573089 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 140559715 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 54 (Y54F)
Ref Sequence ENSEMBL: ENSMUSP00000026378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026378]
AlphaFold Q9Z185
Predicted Effect probably benign
Transcript: ENSMUST00000026378
AA Change: Y54F

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000026378
Gene: ENSMUSG00000025329
AA Change: Y54F

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: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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: 112 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T C 5: 8,984,226 (GRCm39) V652A probably benign Het
Acvrl1 G T 15: 101,038,953 (GRCm39) V417L probably damaging Het
Add1 A G 5: 34,776,715 (GRCm39) R479G probably benign Het
Adgb A T 10: 10,276,318 (GRCm39) L350Q possibly damaging Het
Adgrl2 A T 3: 148,552,506 (GRCm39) S666T probably benign Het
Akap9 T A 5: 4,095,930 (GRCm39) D2268E possibly damaging Het
Amigo3 C A 9: 107,931,265 (GRCm39) H229Q probably benign Het
Ano6 G C 15: 95,762,125 (GRCm39) Q31H possibly damaging Het
Ap4m1 G A 5: 138,173,281 (GRCm39) D180N probably damaging Het
Apc2 A T 10: 80,147,574 (GRCm39) D876V probably damaging Het
Apcdd1 T A 18: 63,085,259 (GRCm39) Y485* probably null Het
Aqp1 G T 6: 55,313,836 (GRCm39) D121Y probably benign Het
Bicd2 C A 13: 49,523,085 (GRCm39) R141S probably benign Het
Brpf3 C A 17: 29,025,267 (GRCm39) H113Q probably benign Het
Cacng2 A T 15: 77,897,520 (GRCm39) Y96* probably null Het
Catsperg1 G T 7: 28,910,184 (GRCm39) N52K possibly damaging Het
Celsr2 A C 3: 108,302,311 (GRCm39) F2606V possibly damaging Het
Cerkl A T 2: 79,162,949 (GRCm39) N516K probably benign Het
Ciita G A 16: 10,330,152 (GRCm39) R812H probably damaging Het
Cldn3 T A 5: 135,015,837 (GRCm39) L180Q probably damaging Het
Cnot6l T C 5: 96,225,158 (GRCm39) I512V probably benign Het
Col5a2 A T 1: 45,482,027 (GRCm39) D32E unknown Het
Coro7 A G 16: 4,449,912 (GRCm39) V616A probably damaging Het
Cyp4f18 T C 8: 72,742,498 (GRCm39) D494G probably benign Het
Ddx39a T A 8: 84,449,100 (GRCm39) V296E probably benign Het
Dgkg A T 16: 22,367,440 (GRCm39) H593Q probably damaging Het
Dhx16 T C 17: 36,197,052 (GRCm39) L645P probably damaging Het
Dnah14 A G 1: 181,425,968 (GRCm39) M171V probably benign Het
Dnhd1 G A 7: 105,370,137 (GRCm39) V4521I probably damaging Het
Dok7 A T 5: 35,221,866 (GRCm39) M60L probably benign Het
Donson A T 16: 91,485,599 (GRCm39) M1K probably null Het
Dsp C T 13: 38,376,859 (GRCm39) T1548M probably benign Het
Dyrk1a A G 16: 94,492,902 (GRCm39) T712A probably damaging Het
Eef2 A G 10: 81,017,116 (GRCm39) T708A probably benign Het
Epn3 G A 11: 94,384,606 (GRCm39) T289I probably benign Het
Fam171a1 C T 2: 3,227,509 (GRCm39) R881* probably null Het
Fat2 T A 11: 55,173,130 (GRCm39) R2528W probably damaging Het
Fbxl9 T C 8: 106,039,530 (GRCm39) D127G probably damaging Het
Fgfr1 T G 8: 26,063,855 (GRCm39) F707C probably damaging Het
Frem2 G C 3: 53,562,174 (GRCm39) P778A probably damaging Het
Ganc A G 2: 120,261,080 (GRCm39) Y255C probably damaging Het
Garin4 G A 1: 190,896,550 (GRCm39) T31M probably benign Het
Ginm1 A T 10: 7,653,614 (GRCm39) Y65* probably null Het
Gm11559 T A 11: 99,755,707 (GRCm39) C119S unknown Het
Gnai1 T A 5: 18,494,549 (GRCm39) H188L Het
H2bc6 T C 13: 23,769,906 (GRCm39) K12E probably benign Het
H6pd C T 4: 150,080,807 (GRCm39) A13T probably benign Het
Hoxd12 A T 2: 74,505,590 (GRCm39) T54S possibly damaging Het
Hs3st5 T A 10: 36,709,190 (GRCm39) L242M probably damaging Het
Il9r C A 11: 32,144,389 (GRCm39) V139L possibly damaging Het
Immt A G 6: 71,823,353 (GRCm39) D68G probably damaging Het
Itsn2 A G 12: 4,682,985 (GRCm39) I304V unknown Het
Lgr4 G A 2: 109,826,974 (GRCm39) W159* probably null Het
Lin52 G A 12: 84,504,728 (GRCm39) G38S probably damaging Het
Lpgat1 A T 1: 191,451,565 (GRCm39) M64L probably benign Het
Lrrc10b G T 19: 10,434,142 (GRCm39) R180S possibly damaging Het
Lrrc36 A T 8: 106,176,401 (GRCm39) L258F possibly damaging Het
Ltbp4 T A 7: 27,029,180 (GRCm39) Q235L unknown Het
Maml2 A G 9: 13,532,903 (GRCm39) M706V Het
Mc5r G T 18: 68,472,739 (GRCm39) C366F probably damaging Het
Mlip T C 9: 77,072,124 (GRCm39) R244G probably benign Het
Muc16 T A 9: 18,496,309 (GRCm39) R6658S probably benign Het
Mup4 G T 4: 59,960,046 (GRCm39) H73N possibly damaging Het
Nf1 A G 11: 79,455,769 (GRCm39) M565V probably benign Het
Nphp1 G A 2: 127,603,137 (GRCm39) T382I possibly damaging Het
Nrcam C T 12: 44,610,809 (GRCm39) T503I possibly damaging Het
Nwd2 A T 5: 63,957,752 (GRCm39) N361Y probably damaging Het
Or10a3 A T 7: 108,480,023 (GRCm39) H263Q probably damaging Het
Or4f15 A T 2: 111,813,672 (GRCm39) L249* probably null Het
Or5ak23 A T 2: 85,244,788 (GRCm39) V145E probably damaging Het
Or6f1 A G 7: 85,970,782 (GRCm39) I126T probably damaging Het
Or7g21 A G 9: 19,032,965 (GRCm39) Y235C probably benign Het
Or8j3 A G 2: 86,028,917 (GRCm39) Y60H probably damaging Het
Or9a7 G T 6: 40,521,829 (GRCm39) A28E probably damaging Het
Orc5 A G 5: 22,728,582 (GRCm39) F308L probably benign Het
Parp1 A G 1: 180,396,665 (GRCm39) K23E possibly damaging Het
Pate1 A T 9: 35,597,268 (GRCm39) V79D possibly damaging Het
Pcdh18 T C 3: 49,711,309 (GRCm39) H2R probably benign Het
Pcnx2 G A 8: 126,613,822 (GRCm39) S543F probably damaging Het
Pcp4l1 G A 1: 171,002,034 (GRCm39) A42V possibly damaging Het
Pnkp T A 7: 44,509,158 (GRCm39) F169L probably damaging Het
Ppp6r3 A T 19: 3,557,325 (GRCm39) N254K probably damaging Het
Psd A G 19: 46,312,893 (GRCm39) L159P probably benign Het
Ptprf A G 4: 118,088,866 (GRCm39) Y646H probably damaging Het
Rab3ip A T 10: 116,773,538 (GRCm39) S92T probably benign Het
Rabgef1 A G 5: 130,216,192 (GRCm39) probably benign Het
Ralgapa1 C A 12: 55,755,789 (GRCm39) W1129L probably damaging Het
Rhpn2 T A 7: 35,084,888 (GRCm39) L594Q probably benign Het
Rnf38 C A 4: 44,158,989 (GRCm39) probably benign Het
Ryr2 T A 13: 11,753,080 (GRCm39) H1747L possibly damaging Het
Sec16a A G 2: 26,329,729 (GRCm39) L13P unknown Het
Spef1l A T 7: 139,558,458 (GRCm39) probably null Het
Sppl3 C A 5: 115,220,394 (GRCm39) T102K probably damaging Het
Srgap2 A T 1: 131,219,351 (GRCm39) Y264* probably null Het
Stxbp2 T C 8: 3,691,151 (GRCm39) M465T Het
Sumf2 A G 5: 129,891,551 (GRCm39) K305R probably benign Het
Susd2 T A 10: 75,478,399 (GRCm39) Y59F probably benign Het
Taco1 T C 11: 105,963,443 (GRCm39) V198A probably benign Het
Tas2r136 A T 6: 132,754,869 (GRCm39) M86K possibly damaging Het
Tbc1d10c T C 19: 4,234,897 (GRCm39) E388G possibly damaging Het
Tmem132c C T 5: 127,641,123 (GRCm39) T1098I possibly damaging Het
Trim3 G T 7: 105,267,007 (GRCm39) Y457* probably null Het
Ttc38 A G 15: 85,737,062 (GRCm39) T316A probably benign Het
Ubqln4 T A 3: 88,463,217 (GRCm39) N127K probably benign Het
Wdr91 A T 6: 34,881,561 (GRCm39) F262Y probably damaging Het
Zdhhc6 A T 19: 55,291,187 (GRCm39) C343S possibly damaging Het
Zfp248 A G 6: 118,407,170 (GRCm39) C140R probably damaging Het
Zfp266 T C 9: 20,413,391 (GRCm39) T90A probably benign Het
Zfp407 A T 18: 84,577,167 (GRCm39) D1315E possibly damaging Het
Zfp644 T C 5: 106,786,143 (GRCm39) S135G probably benign Het
Zscan29 A T 2: 120,991,469 (GRCm39) I773N probably damaging Het
Zswim5 T A 4: 116,838,031 (GRCm39) V787E possibly damaging 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
R6187:Padi1 UTSW 4 140,554,276 (GRCm39) missense probably damaging 1.00
R7257:Padi1 UTSW 4 140,556,782 (GRCm39) missense probably damaging 1.00
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'- GTCTCTGATGATATCCCAGGAGATG -3'
(R):5'- GACAGTTAACCCGAACCACTTG -3'

Sequencing Primer
(F):5'- ATGGCTGGGCATGGGATAC -3'
(R):5'- ATTCAGCTCTACGAAGGTCCTGG -3'
Posted On 2019-09-13