Incidental Mutation 'R7313:Padi2'
ID 567724
Institutional Source Beutler Lab
Gene Symbol Padi2
Ensembl Gene ENSMUSG00000028927
Gene Name peptidyl arginine deiminase, type II
Synonyms Pdi2, Pdi, PAD type II
MMRRC Submission 045411-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.129) question?
Stock # R7313 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 140633655-140679897 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 140660079 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 294 (F294I)
Ref Sequence ENSEMBL: ENSMUSP00000030765 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030765]
AlphaFold Q08642
Predicted Effect probably damaging
Transcript: ENSMUST00000030765
AA Change: F294I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000030765
Gene: ENSMUSG00000028927
AA Change: F294I

DomainStartEndE-ValueType
Pfam:PAD_N 9 122 1.7e-36 PFAM
Pfam:PAD_M 124 282 4e-71 PFAM
Pfam:PAD 292 670 3.8e-174 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.8%
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 II enzyme is the most widely expressed family member. Known substrates for this enzyme include myelin basic protein in the central nervous system and vimentin in skeletal muscle and macrophages. This enzyme is thought to play a role in the onset and progression of neurodegenerative human disorders, including Alzheimer disease and multiple sclerosis, and it has also been implicated in glaucoma pathogenesis. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired ATP- or calcium ionophore ionomycin-induced citrullination of mast cells or of proteins following induction of EAE. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 110 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A G 5: 8,773,187 (GRCm39) N805S probably damaging Het
Acat2 A G 17: 13,178,893 (GRCm39) V60A probably benign Het
Adam6b A G 12: 113,454,754 (GRCm39) I524V probably benign Het
Adamts16 C T 13: 70,921,074 (GRCm39) W590* probably null Het
Adamts9 C T 6: 92,835,102 (GRCm39) G1257D probably damaging Het
Adgrf5 C T 17: 43,755,974 (GRCm39) T644I probably benign Het
Adgrf5 T G 17: 43,763,368 (GRCm39) probably null Het
Adgrv1 T C 13: 81,668,634 (GRCm39) T2641A possibly damaging Het
Agap3 T C 5: 24,657,382 (GRCm39) F60L probably benign Het
Akap9 C A 5: 4,054,933 (GRCm39) T1626K probably damaging Het
Ampd3 C A 7: 110,405,261 (GRCm39) D603E probably damaging Het
Angpt4 T A 2: 151,767,326 (GRCm39) V119E probably benign Het
Atp6v1a T C 16: 43,934,980 (GRCm39) T70A probably benign Het
B4galt3 T A 1: 171,100,319 (GRCm39) I163N probably damaging Het
Borcs5 C T 6: 134,687,143 (GRCm39) T167M probably damaging Het
Btbd19 T A 4: 116,978,616 (GRCm39) S156C probably damaging Het
Camkk2 C T 5: 122,875,574 (GRCm39) R492Q possibly damaging Het
Casr T C 16: 36,330,033 (GRCm39) I434V probably damaging Het
Cd4 G T 6: 124,844,066 (GRCm39) T394K probably benign Het
Cps1 T C 1: 67,237,517 (GRCm39) L1006P probably damaging Het
Crx G A 7: 15,601,857 (GRCm39) P274S probably damaging Het
Crybg1 T A 10: 43,865,107 (GRCm39) I1457F probably damaging Het
Cul4a C A 8: 13,171,676 (GRCm39) probably benign Het
D430041D05Rik T A 2: 104,085,910 (GRCm39) T196S probably benign Het
Dnah3 T C 7: 119,580,567 (GRCm39) E1995G probably benign Het
Dnm1 T A 2: 32,226,021 (GRCm39) T353S probably damaging Het
Ect2l T A 10: 18,044,149 (GRCm39) T329S probably damaging Het
Elp2 T A 18: 24,742,716 (GRCm39) S83T probably benign Het
Exosc7 A G 9: 122,948,013 (GRCm39) T39A probably benign Het
Fam135a C A 1: 24,096,473 (GRCm39) V91F probably damaging Het
Gab2 G T 7: 96,731,005 (GRCm39) probably benign Het
Gbf1 A T 19: 46,268,793 (GRCm39) I1408F possibly damaging Het
Glis3 C T 19: 28,508,419 (GRCm39) E522K probably damaging Het
Gm10375 A T 14: 43,842,314 (GRCm39) C139S possibly damaging Het
Gm26558 T C 2: 70,492,211 (GRCm39) E81G unknown Het
Gm35315 C T 5: 110,227,091 (GRCm39) C116Y probably benign Het
Gm3676 T A 14: 41,366,064 (GRCm39) I84F probably damaging Het
Gm7145 T A 1: 117,913,932 (GRCm39) H271Q probably damaging Het
Gpat2 T A 2: 127,270,215 (GRCm39) I76N probably damaging Het
Hipk1 A T 3: 103,685,574 (GRCm39) S14T unknown Het
Hlcs C A 16: 94,068,362 (GRCm39) S286I probably damaging Het
Ighg1 A T 12: 113,293,078 (GRCm39) F204Y Het
Igsf10 T C 3: 59,236,837 (GRCm39) I1115V probably benign Het
Klk7 A T 7: 43,462,299 (GRCm39) H97L probably damaging Het
Kmt2d A T 15: 98,754,504 (GRCm39) D1605E unknown Het
Leng8 T A 7: 4,142,525 (GRCm39) I49N possibly damaging Het
Lingo4 A T 3: 94,310,451 (GRCm39) D463V possibly damaging Het
Lrp1 T A 10: 127,389,337 (GRCm39) N3193I probably damaging Het
Lrrc7 T A 3: 157,866,111 (GRCm39) Y1210F probably damaging Het
Mki67 G C 7: 135,296,400 (GRCm39) A2878G probably benign Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Mtcl3 T A 10: 29,072,875 (GRCm39) Y722* probably null Het
Mucl2 C T 15: 103,929,445 (GRCm39) probably null Het
Myh6 A T 14: 55,197,727 (GRCm39) D470E probably benign Het
Myo1e T C 9: 70,266,667 (GRCm39) probably null Het
Myo7a G A 7: 97,713,402 (GRCm39) R1647W probably damaging Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nmral1 C T 16: 4,531,660 (GRCm39) M198I probably benign Het
Nrap C A 19: 56,330,700 (GRCm39) L1120F probably damaging Het
Nup155 T A 15: 8,184,406 (GRCm39) I1267N probably damaging Het
Obscn G A 11: 58,898,414 (GRCm39) P6616S unknown Het
Ocstamp T G 2: 165,239,229 (GRCm39) D319A probably damaging Het
Ooep T C 9: 78,285,433 (GRCm39) D61G probably damaging Het
Or10p1 A G 10: 129,443,949 (GRCm39) S134P probably benign Het
Or1e25 A T 11: 73,493,810 (GRCm39) I135F probably damaging Het
Or52ad1 A G 7: 102,995,538 (GRCm39) V199A probably benign Het
Or6c5c T C 10: 129,298,856 (GRCm39) S104P probably damaging Het
Or7g35 A G 9: 19,495,938 (GRCm39) Y35C probably damaging Het
Otoa A G 7: 120,701,765 (GRCm39) E148G probably benign Het
Ovgp1 A T 3: 105,894,387 (GRCm39) D720V unknown Het
Pcdha7 T A 18: 37,107,471 (GRCm39) N165K probably damaging Het
Pcdhb6 C A 18: 37,468,261 (GRCm39) P394H probably damaging Het
Pcdhga6 T C 18: 37,841,072 (GRCm39) V264A possibly damaging Het
Pik3ap1 G T 19: 41,284,815 (GRCm39) D623E possibly damaging Het
Prdm10 A T 9: 31,268,456 (GRCm39) K802* probably null Het
Ptgfrn G A 3: 100,980,363 (GRCm39) L326F possibly damaging Het
Rgsl1 T G 1: 153,683,622 (GRCm39) probably null Het
Rock1 T G 18: 10,129,317 (GRCm39) T347P possibly damaging Het
Rprd2 G A 3: 95,684,022 (GRCm39) P338S probably damaging Het
Sdk1 A T 5: 141,923,377 (GRCm39) N333Y probably damaging Het
Setd4 T A 16: 93,388,132 (GRCm39) H118L probably benign Het
Sirt3 G A 7: 140,458,039 (GRCm39) P37S Het
Slc16a9 G T 10: 70,119,000 (GRCm39) G440W probably damaging Het
Slc22a23 T A 13: 34,367,161 (GRCm39) I616F probably damaging Het
Slc30a8 A C 15: 52,180,707 (GRCm39) D102A probably damaging Het
Slc6a4 T A 11: 76,901,527 (GRCm39) D87E possibly damaging Het
Slc9a4 A C 1: 40,668,663 (GRCm39) T769P probably benign Het
Sspo A T 6: 48,431,762 (GRCm39) Y685F probably damaging Het
Sspo C A 6: 48,450,390 (GRCm39) Q2560K probably benign Het
Stpg1 T A 4: 135,256,827 (GRCm39) L206Q probably damaging Het
Stt3b A T 9: 115,095,183 (GRCm39) Y283N probably damaging Het
Sult4a1 T C 15: 83,970,814 (GRCm39) E197G probably damaging Het
Syne1 T G 10: 4,997,635 (GRCm39) D444A probably damaging Het
Tex15 T A 8: 34,064,845 (GRCm39) V1425E possibly damaging Het
Tgm4 A G 9: 122,891,556 (GRCm39) D557G probably benign Het
Tmcc3 A G 10: 94,266,434 (GRCm39) probably benign Het
Tnfrsf8 T A 4: 145,000,952 (GRCm39) N385Y probably benign Het
Ttc4 T C 4: 106,536,017 (GRCm39) D15G possibly damaging Het
Tut1 A G 19: 8,941,413 (GRCm39) N400S probably benign Het
Usp39 T C 6: 72,313,413 (GRCm39) K259R probably benign Het
Vmn1r215 C T 13: 23,260,484 (GRCm39) H175Y probably benign Het
Vmn1r36 A T 6: 66,693,107 (GRCm39) M256K probably benign Het
Zfp128 T A 7: 12,624,461 (GRCm39) H276Q possibly damaging Het
Zfp276 T C 8: 123,994,562 (GRCm39) M543T probably damaging Het
Zfp354c A T 11: 50,705,483 (GRCm39) Y531N probably damaging Het
Zfp532 T A 18: 65,756,076 (GRCm39) M3K probably damaging Het
Zfp64 T G 2: 168,741,810 (GRCm39) K373Q probably damaging Het
Zfp764l1 C T 7: 126,990,856 (GRCm39) S377N probably benign Het
Zfp983 T G 17: 21,880,413 (GRCm39) S114A probably damaging Het
Zranb1 G A 7: 132,584,481 (GRCm39) R583K probably damaging Het
Other mutations in Padi2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01311:Padi2 APN 4 140,644,948 (GRCm39) missense probably benign 0.27
IGL01374:Padi2 APN 4 140,660,496 (GRCm39) missense probably damaging 1.00
IGL01608:Padi2 APN 4 140,659,541 (GRCm39) missense probably damaging 1.00
IGL02085:Padi2 APN 4 140,654,468 (GRCm39) nonsense probably null
IGL02593:Padi2 APN 4 140,677,153 (GRCm39) missense probably damaging 1.00
IGL02668:Padi2 APN 4 140,677,191 (GRCm39) missense probably benign 0.02
IGL03341:Padi2 APN 4 140,654,424 (GRCm39) missense probably benign 0.06
R0116:Padi2 UTSW 4 140,653,550 (GRCm39) missense probably benign 0.00
R2045:Padi2 UTSW 4 140,665,241 (GRCm39) missense probably damaging 1.00
R2079:Padi2 UTSW 4 140,660,507 (GRCm39) missense probably damaging 1.00
R3022:Padi2 UTSW 4 140,665,299 (GRCm39) missense possibly damaging 0.79
R3079:Padi2 UTSW 4 140,677,189 (GRCm39) missense probably damaging 0.99
R3780:Padi2 UTSW 4 140,645,048 (GRCm39) missense probably benign 0.00
R4250:Padi2 UTSW 4 140,633,857 (GRCm39) missense probably damaging 0.97
R4276:Padi2 UTSW 4 140,663,859 (GRCm39) missense possibly damaging 0.93
R4647:Padi2 UTSW 4 140,671,757 (GRCm39) missense probably damaging 1.00
R5058:Padi2 UTSW 4 140,659,432 (GRCm39) missense probably benign 0.00
R5452:Padi2 UTSW 4 140,659,382 (GRCm39) missense probably benign 0.26
R5471:Padi2 UTSW 4 140,660,519 (GRCm39) missense possibly damaging 0.90
R5489:Padi2 UTSW 4 140,671,799 (GRCm39) missense probably damaging 0.99
R5519:Padi2 UTSW 4 140,676,533 (GRCm39) missense probably damaging 1.00
R5666:Padi2 UTSW 4 140,676,542 (GRCm39) missense possibly damaging 0.76
R5793:Padi2 UTSW 4 140,660,501 (GRCm39) missense probably benign 0.04
R5913:Padi2 UTSW 4 140,644,952 (GRCm39) missense probably benign 0.00
R5929:Padi2 UTSW 4 140,671,848 (GRCm39) critical splice donor site probably null
R5933:Padi2 UTSW 4 140,644,952 (GRCm39) missense probably benign 0.00
R6478:Padi2 UTSW 4 140,644,948 (GRCm39) missense probably benign 0.00
R6809:Padi2 UTSW 4 140,674,077 (GRCm39) splice site probably null
R7075:Padi2 UTSW 4 140,660,528 (GRCm39) missense probably damaging 0.96
R7380:Padi2 UTSW 4 140,644,997 (GRCm39) nonsense probably null
R7391:Padi2 UTSW 4 140,665,266 (GRCm39) missense probably benign 0.01
R7574:Padi2 UTSW 4 140,676,648 (GRCm39) missense possibly damaging 0.87
R7776:Padi2 UTSW 4 140,651,656 (GRCm39) missense probably benign 0.01
R7791:Padi2 UTSW 4 140,644,907 (GRCm39) missense probably benign 0.00
R7810:Padi2 UTSW 4 140,676,575 (GRCm39) missense possibly damaging 0.91
R7985:Padi2 UTSW 4 140,659,403 (GRCm39) missense probably benign 0.06
R8154:Padi2 UTSW 4 140,651,620 (GRCm39) splice site probably null
R8481:Padi2 UTSW 4 140,660,564 (GRCm39) missense probably benign 0.01
R8524:Padi2 UTSW 4 140,677,006 (GRCm39) missense possibly damaging 0.90
R8732:Padi2 UTSW 4 140,660,590 (GRCm39) missense probably benign 0.29
R9010:Padi2 UTSW 4 140,663,924 (GRCm39) missense probably damaging 0.99
R9653:Padi2 UTSW 4 140,662,036 (GRCm39) critical splice donor site probably null
Z1177:Padi2 UTSW 4 140,677,038 (GRCm39) missense probably damaging 1.00
Z1177:Padi2 UTSW 4 140,651,646 (GRCm39) missense possibly damaging 0.50
Predicted Primers PCR Primer
(F):5'- TACACGCAGAGACATGTGGTG -3'
(R):5'- GGTACTTTGTAAAGGTCACTGAGAC -3'

Sequencing Primer
(F):5'- AGCAGAGTTCATTTGCCCAG -3'
(R):5'- GGGTCATATAGCCGCTAAGTG -3'
Posted On 2019-06-26