Incidental Mutation 'R4727:Padi6'
ID 358526
Institutional Source Beutler Lab
Gene Symbol Padi6
Ensembl Gene ENSMUSG00000040935
Gene Name peptidyl arginine deiminase, type VI
Synonyms ePAD, Padi5, Pad6
MMRRC Submission 041602-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4727 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 140454666-140469954 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 140458506 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 462 (D462A)
Ref Sequence ENSEMBL: ENSMUSP00000044044 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038749] [ENSMUST00000130267]
AlphaFold Q8K3V4
Predicted Effect probably damaging
Transcript: ENSMUST00000038749
AA Change: D462A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044044
Gene: ENSMUSG00000040935
AA Change: D462A

DomainStartEndE-ValueType
Pfam:PAD_N 1 112 5.6e-38 PFAM
Pfam:PAD_M 114 269 6e-53 PFAM
Pfam:PAD 280 679 4.7e-149 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125046
Predicted Effect probably benign
Transcript: ENSMUST00000130267
SMART Domains Protein: ENSMUSP00000123490
Gene: ENSMUSG00000040935

DomainStartEndE-ValueType
Pfam:PAD_M 39 191 1.1e-57 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
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. This protein may play a role in cytoskeletal reorganization in the egg and in early embryo development. [provided by RefSeq, Sep 2012]
PHENOTYPE: Mice homozygous for a null allele exhibit altered oocyte cytoplasmic structures that lead to a failure of zygotes to progress beyond the 2 cell stage and female infertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 T C 15: 91,062,489 (GRCm39) N483S probably benign Het
Acoxl T G 2: 127,820,658 (GRCm39) L70R probably damaging Het
Ankrd44 A T 1: 54,706,576 (GRCm39) F627I probably benign Het
Ash2l A T 8: 26,308,623 (GRCm39) I552N probably damaging Het
B4galt1 A G 4: 40,807,812 (GRCm39) S330P probably damaging Het
Bnip3 T C 7: 138,500,435 (GRCm39) S52G probably damaging Het
Btd A G 14: 31,384,278 (GRCm39) Q88R probably benign Het
C4bp A G 1: 130,566,922 (GRCm39) V318A probably benign Het
Cacna1e G A 1: 154,312,214 (GRCm39) Q1530* probably null Het
Calm1 T C 12: 100,166,485 (GRCm39) F23S probably benign Het
Cep290 T G 10: 100,399,132 (GRCm39) I2218R probably benign Het
Ces2c T C 8: 105,574,672 (GRCm39) I43T probably benign Het
Cyp2d9 T C 15: 82,338,602 (GRCm39) L1P probably null Het
Dgki C A 6: 37,276,748 (GRCm39) probably benign Het
Dhh A G 15: 98,796,023 (GRCm39) L44P probably damaging Het
Dnah12 A G 14: 26,594,274 (GRCm39) I3409V probably damaging Het
Dnah7b G A 1: 46,246,816 (GRCm39) R1664H probably damaging Het
Dnah8 T C 17: 31,070,721 (GRCm39) M4469T probably damaging Het
Ehhadh T C 16: 21,581,181 (GRCm39) I604V probably benign Het
Esr1 A G 10: 4,951,418 (GRCm39) I599V probably benign Het
Faf1 G A 4: 109,697,564 (GRCm39) D297N probably damaging Het
Gfra1 A T 19: 58,252,386 (GRCm39) N380K probably damaging Het
Ghitm A G 14: 36,855,700 (GRCm39) C8R probably damaging Het
Ifna4 C A 4: 88,760,519 (GRCm39) T141K probably benign Het
Itsn2 A G 12: 4,757,660 (GRCm39) Y1424C probably damaging Het
Kcnj10 A G 1: 172,197,266 (GRCm39) D260G probably damaging Het
Klf16 T C 10: 80,405,020 (GRCm39) D164G probably damaging Het
Klhdc7b T A 15: 89,271,785 (GRCm39) L889Q probably damaging Het
Lcmt2 C G 2: 120,969,911 (GRCm39) V171L probably benign Het
Lrp11 A G 10: 7,466,348 (GRCm39) E153G probably benign Het
Lrrc43 A T 5: 123,632,366 (GRCm39) T170S probably damaging Het
Lsr T C 7: 30,665,465 (GRCm39) Y163C probably damaging Het
Man1a A T 10: 53,783,668 (GRCm39) probably null Het
Mmp24 C T 2: 155,657,819 (GRCm39) P570S possibly damaging Het
Ms4a3 A G 19: 11,608,742 (GRCm39) M170T probably damaging Het
Naip5 C A 13: 100,358,378 (GRCm39) A953S possibly damaging Het
Nfrkb T C 9: 31,314,919 (GRCm39) S580P probably damaging Het
Or51q1c T G 7: 103,653,097 (GRCm39) V205G probably benign Het
Or8b38 T C 9: 37,973,389 (GRCm39) Y258H probably damaging Het
Pde6a A G 18: 61,364,561 (GRCm39) R206G probably benign Het
Plk4 A G 3: 40,759,589 (GRCm39) N162D probably benign Het
Ptpn13 T A 5: 103,717,721 (GRCm39) D1922E probably benign Het
Rangap1 G A 15: 81,613,956 (GRCm39) probably benign Het
Rapgef3 A G 15: 97,658,481 (GRCm39) L175P probably damaging Het
Rps6kb1 G C 11: 86,435,484 (GRCm39) probably null Het
Satb1 T C 17: 52,111,375 (GRCm39) Y161C probably damaging Het
Sel1l3 C A 5: 53,301,525 (GRCm39) probably null Het
Slc17a7 C T 7: 44,822,358 (GRCm39) S398L possibly damaging Het
Slc22a4 T A 11: 53,918,477 (GRCm39) E109V possibly damaging Het
Slc26a7 C T 4: 14,590,477 (GRCm39) A105T probably damaging Het
Slc47a1 T C 11: 61,254,277 (GRCm39) N145S possibly damaging Het
Tank A G 2: 61,483,876 (GRCm39) T441A probably benign Het
Tefm T C 11: 80,031,279 (GRCm39) probably benign Het
Ttbk2 T C 2: 120,575,851 (GRCm39) Y1042C probably benign Het
Wdfy3 T C 5: 102,077,894 (GRCm39) Q892R probably damaging Het
Wdr33 T A 18: 32,021,500 (GRCm39) H683Q unknown Het
Zfp36l2 T A 17: 84,495,089 (GRCm39) I12F probably benign Het
Zfyve26 A T 12: 79,291,170 (GRCm39) M2145K probably benign Het
Other mutations in Padi6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00778:Padi6 APN 4 140,454,934 (GRCm39) missense possibly damaging 0.56
IGL01013:Padi6 APN 4 140,456,314 (GRCm39) missense probably damaging 0.98
IGL01068:Padi6 APN 4 140,458,264 (GRCm39) missense possibly damaging 0.70
IGL01945:Padi6 APN 4 140,469,235 (GRCm39) missense probably benign 0.24
streetwise UTSW 4 140,468,869 (GRCm39) nonsense probably null
R0097:Padi6 UTSW 4 140,458,268 (GRCm39) missense probably benign 0.09
R0097:Padi6 UTSW 4 140,458,268 (GRCm39) missense probably benign 0.09
R0135:Padi6 UTSW 4 140,464,663 (GRCm39) missense probably benign 0.04
R0437:Padi6 UTSW 4 140,456,240 (GRCm39) missense probably benign 0.01
R1581:Padi6 UTSW 4 140,463,147 (GRCm39) missense probably damaging 1.00
R2024:Padi6 UTSW 4 140,456,279 (GRCm39) missense possibly damaging 0.78
R3150:Padi6 UTSW 4 140,462,700 (GRCm39) missense probably damaging 1.00
R3176:Padi6 UTSW 4 140,462,700 (GRCm39) missense probably damaging 1.00
R3177:Padi6 UTSW 4 140,462,700 (GRCm39) missense probably damaging 1.00
R3276:Padi6 UTSW 4 140,462,700 (GRCm39) missense probably damaging 1.00
R3277:Padi6 UTSW 4 140,462,700 (GRCm39) missense probably damaging 1.00
R4168:Padi6 UTSW 4 140,469,245 (GRCm39) missense probably damaging 0.99
R5063:Padi6 UTSW 4 140,469,191 (GRCm39) missense probably benign 0.01
R5382:Padi6 UTSW 4 140,458,521 (GRCm39) missense probably damaging 1.00
R5408:Padi6 UTSW 4 140,454,996 (GRCm39) missense probably damaging 1.00
R5604:Padi6 UTSW 4 140,458,473 (GRCm39) missense probably damaging 0.96
R5790:Padi6 UTSW 4 140,459,569 (GRCm39) missense probably damaging 1.00
R7084:Padi6 UTSW 4 140,468,869 (GRCm39) nonsense probably null
R7533:Padi6 UTSW 4 140,458,506 (GRCm39) missense probably damaging 1.00
R7581:Padi6 UTSW 4 140,456,240 (GRCm39) missense probably benign 0.01
R7662:Padi6 UTSW 4 140,456,306 (GRCm39) missense probably benign 0.00
R7766:Padi6 UTSW 4 140,458,286 (GRCm39) missense probably benign 0.02
R7872:Padi6 UTSW 4 140,455,073 (GRCm39) missense probably damaging 1.00
R8333:Padi6 UTSW 4 140,464,687 (GRCm39) missense probably damaging 1.00
R8347:Padi6 UTSW 4 140,462,719 (GRCm39) missense probably benign 0.00
R8550:Padi6 UTSW 4 140,460,014 (GRCm39) missense probably benign 0.15
R8979:Padi6 UTSW 4 140,466,474 (GRCm39) missense probably benign 0.03
R9628:Padi6 UTSW 4 140,464,626 (GRCm39) missense probably damaging 1.00
RF007:Padi6 UTSW 4 140,457,054 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAACAGGGTCACGTTCCCATAG -3'
(R):5'- GCAGTCCAATGAAGTCCACC -3'

Sequencing Primer
(F):5'- GGGTCACGTTCCCATAGCCTTC -3'
(R):5'- CCAAAGAGGTGGCTCAGTTGTC -3'
Posted On 2015-11-11