Mutagenetix > Incidental Mutation

Incidental Mutation 'R5933:Padi2'

461995

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

044127-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R5933 (G1)

Quality Score

173

Status

Validated

Chromosome

Chromosomal Location

140633655-140679897 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 140644952 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 62 (R62H)

Ref Sequence

ENSEMBL: ENSMUSP00000030765 (fasta)

Gene Model

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

AlphaFold

Q08642

Predicted Effect

probably benign
Transcript: ENSMUST00000030765
AA Change: R62H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000030765
Gene: ENSMUSG00000028927
AA Change: R62H

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: ENSMUST00000082509

Meta Mutation Damage Score

0.0644

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

Validation Efficiency

94% (99/105)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 137,776,109 (GRCm39)	P1766L	probably damaging	Het
Abca13	A	G	11: 9,199,658 (GRCm39)	Q119R	possibly damaging	Het
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Aipl1	A	C	11: 71,921,108 (GRCm39)	C237G	probably benign	Het
Ankdd1a	C	T	9: 65,416,978 (GRCm39)	A154T	probably benign	Het
Arglu1	T	C	8: 8,740,047 (GRCm39)	S91G	probably benign	Het
Arhgef33	C	A	17: 80,644,709 (GRCm39)	H13N	probably benign	Het
Atp1a4	A	G	1: 172,059,841 (GRCm39)	I796T	possibly damaging	Het
Birc6	C	G	17: 74,906,232 (GRCm39)	S1374R	probably damaging	Het
Birc6	T	A	17: 74,906,233 (GRCm39)	S72T	probably damaging	Het
Bmpr1b	T	C	3: 141,577,128 (GRCm39)	*59W	probably null	Het
Btbd16	A	T	7: 130,386,011 (GRCm39)	Q63L	probably damaging	Het
Cacna1c	C	T	6: 118,589,541 (GRCm39)	R1592H	probably damaging	Het
Caps2	G	A	10: 112,051,351 (GRCm39)	E541K	probably benign	Het
Card9	T	C	2: 26,242,509 (GRCm39)	E500G	probably damaging	Het
Carnmt1	T	C	19: 18,681,469 (GRCm39)	V396A	probably benign	Het
Ccnl1	T	A	3: 65,855,763 (GRCm39)	K320M	probably damaging	Het
Cdh20	A	C	1: 104,912,396 (GRCm39)	D550A	probably damaging	Het
Cdhr1	T	A	14: 36,811,419 (GRCm39)	T231S	probably benign	Het
Cenpe	T	C	3: 134,967,389 (GRCm39)	V2177A	probably benign	Het
Cfap69	A	G	5: 5,690,183 (GRCm39)	C161R	probably damaging	Het
Ctsd	C	T	7: 141,930,316 (GRCm39)	V403I	probably benign	Het
Cyth1	C	T	11: 118,076,585 (GRCm39)		probably null	Het
Dazl	A	T	17: 50,594,781 (GRCm39)		probably null	Het
Disp3	A	T	4: 148,325,770 (GRCm39)	C1329*	probably null	Het
Dld	C	T	12: 31,383,982 (GRCm39)	V374I	probably benign	Het
Dnah7c	T	C	1: 46,558,375 (GRCm39)	Y494H	probably damaging	Het
Dnttip2	T	A	3: 122,069,217 (GRCm39)	M144K	probably benign	Het
Drc1	A	T	5: 30,502,873 (GRCm39)	D132V	probably damaging	Het
Enpp6	A	G	8: 47,519,039 (GRCm39)	D269G	probably benign	Het
Ephx4	T	A	5: 107,551,631 (GRCm39)		probably null	Het
Evl	T	C	12: 108,649,516 (GRCm39)	S345P	possibly damaging	Het
Fam193a	A	T	5: 34,623,024 (GRCm39)	D1204V	probably damaging	Het
Fat2	A	T	11: 55,174,877 (GRCm39)	D1945E	probably damaging	Het
Fat4	T	C	3: 39,005,524 (GRCm39)		probably null	Het
Fbln7	A	T	2: 128,719,418 (GRCm39)	M72L	probably benign	Het
Flnc	T	C	6: 29,441,105 (GRCm39)	V353A	probably damaging	Het
Fry	T	C	5: 150,314,265 (GRCm39)		probably benign	Het
Galnt14	A	T	17: 73,833,300 (GRCm39)	C225S	probably benign	Het
Gapvd1	T	C	2: 34,574,303 (GRCm39)	S1265G	probably benign	Het
Gm13030	A	G	4: 138,598,515 (GRCm39)	F136S	unknown	Het
Gucy1a1	T	C	3: 82,002,114 (GRCm39)	H655R	probably damaging	Het
Hk1	A	G	10: 62,105,773 (GRCm39)	L890P	probably damaging	Het
Igfn1	T	A	1: 135,898,341 (GRCm39)	R742*	probably null	Het
Igkv12-49	T	C	6: 69,693,553 (GRCm39)		noncoding transcript	Het
Igkv2-109	T	A	6: 68,279,965 (GRCm39)	L62Q	possibly damaging	Het
Itgb3	A	G	11: 104,528,805 (GRCm39)	T311A	possibly damaging	Het
Kl	A	G	5: 150,912,948 (GRCm39)	E899G	probably damaging	Het
Kyat3	A	T	3: 142,429,021 (GRCm39)	D151V	probably damaging	Het
Morc2b	A	T	17: 33,357,583 (GRCm39)	M63K	possibly damaging	Het
Mtbp	T	A	15: 55,434,723 (GRCm39)	F298L	possibly damaging	Het
Mtmr3	C	T	11: 4,448,951 (GRCm39)	V272I	probably benign	Het
Muc4	A	G	16: 32,574,480 (GRCm39)	T977A	probably benign	Het
Nebl	G	A	2: 17,408,998 (GRCm39)	H367Y	probably benign	Het
Nop58	T	A	1: 59,743,824 (GRCm39)	Y274*	probably null	Het
Nuak1	T	A	10: 84,210,666 (GRCm39)	Q474L	probably damaging	Het
Obscn	A	G	11: 58,889,331 (GRCm39)	S7523P	unknown	Het
Oosp3	T	A	19: 11,682,753 (GRCm39)	D140E	probably benign	Het
Or52z15	T	A	7: 103,332,680 (GRCm39)	C242S	probably damaging	Het
Patl1	A	G	19: 11,917,136 (GRCm39)	N661S	probably benign	Het
Pcyox1l	G	T	18: 61,831,544 (GRCm39)	N238K	probably benign	Het
Pmch	A	G	10: 87,927,011 (GRCm39)	T5A	probably benign	Het
Polr3h	A	G	15: 81,800,835 (GRCm39)	L169P	probably damaging	Het
Ptpn4	A	G	1: 119,615,453 (GRCm39)	V567A	probably damaging	Het
Rasgrp2	T	G	19: 6,452,543 (GRCm39)	F39V	probably damaging	Het
Setd1b	G	A	5: 123,296,815 (GRCm39)		probably benign	Het
Sh3glb2	A	T	2: 30,240,401 (GRCm39)		probably null	Het
Slc46a3	A	T	5: 147,830,700 (GRCm39)	N44K	probably benign	Het
Slc9b1	T	A	3: 135,099,756 (GRCm39)	N425K	probably benign	Het
Slfn14	A	T	11: 83,170,288 (GRCm39)	V452E	probably damaging	Het
Slfn8	A	T	11: 82,894,161 (GRCm39)	M826K	probably benign	Het
Slit3	G	A	11: 35,520,578 (GRCm39)	V572M	probably benign	Het
Smr3a	C	A	5: 88,155,873 (GRCm39)		probably null	Het
Snap29	T	C	16: 17,224,194 (GRCm39)	S70P	probably damaging	Het
Svopl	T	A	6: 37,993,949 (GRCm39)		probably benign	Het
Tbc1d17	A	T	7: 44,494,761 (GRCm39)	F186I	probably damaging	Het
Tgm6	T	C	2: 129,983,176 (GRCm39)	V255A	probably damaging	Het
Tjp1	G	T	7: 64,952,600 (GRCm39)	T1498K	probably benign	Het
Tkfc	C	A	19: 10,574,711 (GRCm39)	E176D	probably benign	Het
Tmem102	C	T	11: 69,694,506 (GRCm39)	V489I	probably damaging	Het
Ttn	A	G	2: 76,551,781 (GRCm39)	V22930A	probably damaging	Het
Tyms	A	T	5: 30,278,357 (GRCm39)		probably null	Het
Uaca	T	A	9: 60,748,238 (GRCm39)	D67E	probably damaging	Het
Unc119b	G	A	5: 115,265,508 (GRCm39)		probably benign	Het
Usp29	A	T	7: 6,964,744 (GRCm39)	T196S	probably benign	Het
Usp37	A	G	1: 74,525,141 (GRCm39)	S228P	probably damaging	Het
Usp42	C	A	5: 143,701,270 (GRCm39)	A918S	probably benign	Het
Vmn2r72	T	A	7: 85,387,058 (GRCm39)	L835F	probably benign	Het
Vps13a	T	C	19: 16,637,894 (GRCm39)	T2396A	probably benign	Het
Whrn	A	T	4: 63,412,945 (GRCm39)	S176T	probably damaging	Het
Zbtb42	T	C	12: 112,647,055 (GRCm39)	F410S	probably damaging	Het
Zfp616	T	C	11: 73,973,952 (GRCm39)	S74P	probably damaging	Het
Zswim6	A	G	13: 107,880,642 (GRCm39)		noncoding transcript	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
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
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'- AATCTCCTGTCACCAGCTGG -3'
(R):5'- AGCACTATATGGCTCCCACTG -3'

Sequencing Primer
(F):5'- CTGGTCATGGCAGCCTTG -3'
(R):5'- CTGTGGCTCAGGCTATTCCAG -3'

Posted On

2017-02-28