Incidental Mutation 'R5850:Padi1'
ID 454613
Institutional Source Beutler Lab
Gene Symbol Padi1
Ensembl Gene ENSMUSG00000025329
Gene Name peptidyl arginine deiminase, type I
Synonyms Pad type 1, Pdi1
MMRRC Submission 043226-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # R5850 (G1)
Quality Score 185
Status Not validated
Chromosome 4
Chromosomal Location 140540294-140573089 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 140542141 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 594 (Y594H)
Ref Sequence ENSEMBL: ENSMUSP00000026378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026377] [ENSMUST00000026378]
AlphaFold Q9Z185
Predicted Effect probably benign
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 benign
Transcript: ENSMUST00000026378
AA Change: Y594H

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000026378
Gene: ENSMUSG00000025329
AA Change: Y594H

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151848
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.2%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553M12Rik T C 4: 88,786,596 (GRCm39) I7M unknown Het
Abca8b C A 11: 109,868,639 (GRCm39) G175V probably damaging Het
Abhd14a A C 9: 106,317,548 (GRCm39) L225R probably damaging Het
Apbb1 A G 7: 105,216,790 (GRCm39) S39P probably damaging Het
Apc T C 18: 34,451,116 (GRCm39) S2637P possibly damaging Het
Apold1 T C 6: 134,961,058 (GRCm39) F171L probably damaging Het
Ascc3 T C 10: 50,587,049 (GRCm39) M967T probably damaging Het
Atf7ip T C 6: 136,543,785 (GRCm39) probably null Het
Bcl2l15 T A 3: 103,743,432 (GRCm39) V111D possibly damaging Het
Bsn A T 9: 107,992,149 (GRCm39) M1201K probably damaging Het
Ccdc141 T A 2: 76,859,747 (GRCm39) N965Y probably damaging Het
Cnn3 T C 3: 121,245,577 (GRCm39) Y98H probably damaging Het
Cnot1 G A 8: 96,460,775 (GRCm39) R117* probably null Het
Dlgap1 G A 17: 71,094,087 (GRCm39) V803M probably damaging Het
Drd3 A C 16: 43,638,695 (GRCm39) M299L probably benign Het
Ergic2 C A 6: 148,084,605 (GRCm39) M34I possibly damaging Het
Ext2 A T 2: 93,644,004 (GRCm39) D92E possibly damaging Het
Fmnl1 A G 11: 103,086,111 (GRCm39) probably benign Het
Ganab C T 19: 8,889,071 (GRCm39) R591W probably damaging Het
Kdsr A T 1: 106,683,172 (GRCm39) probably null Het
Macf1 T C 4: 123,401,099 (GRCm39) E813G probably damaging Het
Nlrc5 A G 8: 95,247,675 (GRCm39) T1621A probably benign Het
Nmnat1 G A 4: 149,554,124 (GRCm39) Q139* probably null Het
Os9 TTCCTCCTCCTCCTCCTCCTC TTCCTCCTCCTCCTCCTC 10: 126,934,348 (GRCm39) probably benign Het
Oxa1l T G 14: 54,605,121 (GRCm39) V11G possibly damaging Het
Polr1a T A 6: 71,903,667 (GRCm39) F327I probably benign Het
Prf1 G T 10: 61,135,972 (GRCm39) A83S probably benign Het
Ptgs2 A G 1: 149,981,127 (GRCm39) E470G probably benign Het
Rictor G A 15: 6,823,487 (GRCm39) E1555K probably benign Het
Skint8 C A 4: 111,807,390 (GRCm39) L359M probably damaging Het
Slc19a2 A G 1: 164,091,025 (GRCm39) I278V probably benign Het
Smco1 A T 16: 32,092,674 (GRCm39) N115I probably damaging Het
Smyd3 G A 1: 178,871,420 (GRCm39) L320F probably damaging Het
Svil T A 18: 5,098,900 (GRCm39) probably null Het
Syne2 A G 12: 76,144,749 (GRCm39) D1566G probably damaging Het
Tpm2 T C 4: 43,523,296 (GRCm39) D20G probably damaging Het
Ubap1l A G 9: 65,281,045 (GRCm39) Y241C probably damaging Het
Usp15 A G 10: 122,960,417 (GRCm39) probably null Het
Wdr45b A G 11: 121,221,923 (GRCm39) probably benign Het
Zc3h14 A G 12: 98,745,414 (GRCm39) I468V probably damaging Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably 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
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
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'- TAAAAGGTTTCCTCCGCACG -3'
(R):5'- AACATTGTACCACTGAGCTACC -3'

Sequencing Primer
(F):5'- ACGTTGGTGCCACAGTG -3'
(R):5'- CGACTCCCAATTTATAATGGGC -3'
Posted On 2017-02-10