Mutagenetix > Incidental Mutation

Incidental Mutation 'R5058:Padi2'

391007

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

042648-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R5058 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

140633655-140679897 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 140659432 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 246 (V246L)

Ref Sequence

ENSEMBL: ENSMUSP00000030765 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030765]

AlphaFold

Q08642

Predicted Effect

probably benign
Transcript: ENSMUST00000030765
AA Change: V246L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000030765
Gene: ENSMUSG00000028927
AA Change: V246L

Domain	Start	End	E-Value	Type
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148160

Meta Mutation Damage Score

0.1493

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.2%

Validation Efficiency

100% (79/79)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprhl1	T	C	8: 13,292,625 (GRCm39)	Y222C	probably damaging	Het
Adprs	A	G	4: 126,212,238 (GRCm39)	S94P	probably damaging	Het
Atp11b	A	G	3: 35,863,510 (GRCm39)	E202G	probably benign	Het
Cacna1d	G	T	14: 29,836,201 (GRCm39)	S849*	probably null	Het
Camsap1	T	C	2: 25,829,375 (GRCm39)	D783G	probably benign	Het
Cbfa2t2	T	A	2: 154,346,665 (GRCm39)	I124N	probably damaging	Het
Ccdc13	A	T	9: 121,646,613 (GRCm39)		probably benign	Het
Cfap44	G	A	16: 44,240,567 (GRCm39)		probably null	Het
Col17a1	C	A	19: 47,673,989 (GRCm39)	E13*	probably null	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dennd6b	A	G	15: 89,071,553 (GRCm39)	L288P	possibly damaging	Het
Dhx37	A	C	5: 125,499,295 (GRCm39)	Y638D	probably benign	Het
Epb41	G	A	4: 131,734,746 (GRCm39)		probably benign	Het
Esp31	A	T	17: 38,955,500 (GRCm39)	I48L	possibly damaging	Het
Fat3	T	C	9: 15,908,154 (GRCm39)	Q2616R	probably damaging	Het
Fbxo33	A	G	12: 59,265,919 (GRCm39)	I116T	probably benign	Het
Flnb	G	T	14: 7,924,262 (GRCm38)	E1792*	probably null	Het
Fzd2	G	A	11: 102,495,633 (GRCm39)	G26R	probably damaging	Het
Gm11677	T	A	11: 111,616,264 (GRCm39)		noncoding transcript	Het
Gm7137	A	T	10: 77,623,905 (GRCm39)		probably benign	Het
Hnrnpr	A	G	4: 136,063,648 (GRCm39)	T252A	possibly damaging	Het
Hyal5	T	C	6: 24,891,484 (GRCm39)	F433L	probably damaging	Het
Kcnmb4	T	A	10: 116,299,833 (GRCm39)		probably benign	Het
Meltf	A	G	16: 31,706,421 (GRCm39)		probably null	Het
Mllt6	G	A	11: 97,560,326 (GRCm39)	S210N	possibly damaging	Het
Muc6	T	C	7: 141,230,491 (GRCm39)	D1213G	probably benign	Het
Ncam1	A	C	9: 49,709,995 (GRCm39)	F12C	probably benign	Het
Nfxl1	A	T	5: 72,713,582 (GRCm39)	D120E	probably benign	Het
Nrg1	T	C	8: 32,314,587 (GRCm39)	Q142R	probably damaging	Het
Or10c1	A	G	17: 37,522,558 (GRCm39)	L62P	probably damaging	Het
Or1j18	T	G	2: 36,625,011 (GRCm39)	L226R	possibly damaging	Het
Or2h15	G	A	17: 38,441,432 (GRCm39)	S217F	probably damaging	Het
Or56a4	T	C	7: 104,806,355 (GRCm39)	N178S	probably damaging	Het
Or5k16	T	C	16: 58,736,435 (GRCm39)	T190A	probably benign	Het
Or8c10	C	A	9: 38,279,220 (GRCm39)	T116K	probably damaging	Het
Or8g30	C	A	9: 39,229,960 (GRCm39)	V317L	probably benign	Het
Or9s18	C	A	13: 65,300,743 (GRCm39)	A235D	possibly damaging	Het
Pgghg	C	T	7: 140,522,455 (GRCm39)	T63I	possibly damaging	Het
Pitpnm1	A	G	19: 4,162,758 (GRCm39)	N1117S	probably benign	Het
Plch1	G	T	3: 63,630,202 (GRCm39)	T534K	probably damaging	Het
Poc1a	G	T	9: 106,227,012 (GRCm39)		probably benign	Het
Polr3c	T	C	3: 96,630,833 (GRCm39)	I196V	probably benign	Het
Prph	A	T	15: 98,953,113 (GRCm39)		probably benign	Het
Ptprg	C	A	14: 12,037,387 (GRCm38)	T189K	possibly damaging	Het
R3hcc1	A	T	14: 69,941,463 (GRCm39)	I183N	probably damaging	Het
Rundc1	T	C	11: 101,316,363 (GRCm39)	L145P	probably benign	Het
Slc26a3	A	G	12: 31,520,964 (GRCm39)	K723E	possibly damaging	Het
Slc38a3	T	C	9: 107,536,390 (GRCm39)	E2G	possibly damaging	Het
Slc9a5	G	T	8: 106,082,490 (GRCm39)	V252L	probably benign	Het
Smim26	C	T	2: 144,437,043 (GRCm39)	T64M	probably benign	Het
Socs4	C	T	14: 47,527,589 (GRCm39)	R175*	probably null	Het
Srebf2	T	C	15: 82,066,251 (GRCm39)	S600P	probably damaging	Het
Tas2r107	A	T	6: 131,636,705 (GRCm39)	S115T	probably damaging	Het
Tenm2	T	C	11: 36,097,907 (GRCm39)	D447G	possibly damaging	Het
Thbs2	T	A	17: 14,896,591 (GRCm39)	D766V	probably damaging	Het
Tinagl1	A	G	4: 130,061,250 (GRCm39)	V300A	probably benign	Het
Tle6	T	A	10: 81,430,072 (GRCm39)	N332I	possibly damaging	Het
Tle6	C	A	10: 81,431,791 (GRCm39)	W151L	probably damaging	Het
Tnfrsf13c	C	T	15: 82,108,408 (GRCm39)	V36M	probably damaging	Het
Tns2	T	C	15: 102,016,295 (GRCm39)	I211T	possibly damaging	Het
Trp63	A	G	16: 25,701,344 (GRCm39)	N379D	probably damaging	Het
Trpc2	T	C	7: 101,738,316 (GRCm39)	W433R	probably damaging	Het
Tyw1	T	A	5: 130,305,927 (GRCm39)	L350Q	probably benign	Het
Usf3	T	C	16: 44,033,070 (GRCm39)	L76P	probably damaging	Het
Vmn2r79	T	C	7: 86,651,423 (GRCm39)	L274P	probably damaging	Het

Other mutations in Padi2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R7313:Padi2	UTSW	4	140,660,079 (GRCm39)	missense	probably damaging	0.99
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'- AACCCGTTTGCAGCATCCTG -3'
(R):5'- TAAAGTTCCCAGGTCTGAGCGAG -3'

Sequencing Primer
(F):5'- AGCATCCTGTGGTGTTTTCC -3'
(R):5'- GGGACATACTTGACTGCGCATG -3'

Posted On

2016-06-06