Mutagenetix > Incidental Mutation

Incidental Mutation 'R2079:Padi2'

229324

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

040084-MU

Accession Numbers

Essential gene?

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

Stock #

R2079 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

140633655-140679897 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140660507 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 329 (L329P)

Ref Sequence

ENSEMBL: ENSMUSP00000030765 (fasta)

Gene Model

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

AlphaFold

Q08642

Predicted Effect

probably damaging
Transcript: ENSMUST00000030765
AA Change: L329P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030765
Gene: ENSMUSG00000028927
AA Change: L329P

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts6	A	T	13: 104,598,746 (GRCm39)	R862S	probably benign	Het
Aldoa	T	C	7: 126,396,076 (GRCm39)	D164G	probably null	Het
Ankle2	T	C	5: 110,392,371 (GRCm39)	V459A	probably damaging	Het
Atp11a	A	G	8: 12,907,902 (GRCm39)	Y482C	probably damaging	Het
BC035947	A	G	1: 78,488,561 (GRCm39)		probably benign	Het
Cfap65	G	A	1: 74,956,358 (GRCm39)	R1074C	probably benign	Het
Ciart	G	T	3: 95,786,350 (GRCm39)	H242N	probably damaging	Het
Cidec	T	A	6: 113,402,615 (GRCm39)	M220L	probably benign	Het
Clca3a1	A	G	3: 144,713,534 (GRCm39)	I699T	possibly damaging	Het
Csf2rb2	T	C	15: 78,172,207 (GRCm39)	D401G	probably benign	Het
Cyp2j6	C	A	4: 96,419,962 (GRCm39)	L256F	possibly damaging	Het
Ddr2	A	T	1: 169,832,345 (GRCm39)	Y148*	probably null	Het
Depdc5	T	A	5: 33,104,018 (GRCm39)	I373N	possibly damaging	Het
Dpp10	A	T	1: 123,360,721 (GRCm39)	M268K	probably damaging	Het
Fam118b	C	A	9: 35,134,960 (GRCm39)	V216F	possibly damaging	Het
Fancd2	T	C	6: 113,532,148 (GRCm39)	V487A	probably damaging	Het
Fhad1	T	A	4: 141,718,513 (GRCm39)	R147*	probably null	Het
Flt3	A	G	5: 147,291,893 (GRCm39)	S544P	probably damaging	Het
Frem3	C	A	8: 81,341,732 (GRCm39)	Q1342K	probably benign	Het
Garin3	T	G	11: 46,295,934 (GRCm39)	V102G	probably benign	Het
Gimap4	T	C	6: 48,667,881 (GRCm39)	M84T	possibly damaging	Het
Gm20481	T	C	17: 35,189,196 (GRCm39)	K569R	probably benign	Het
Gm4871	A	C	5: 144,966,741 (GRCm39)	D247E	possibly damaging	Het
Gm5141	A	T	13: 62,922,424 (GRCm39)	N248K	probably benign	Het
Gulo	A	G	14: 66,227,832 (GRCm39)	Y367H	probably damaging	Het
Hap1	T	C	11: 100,244,572 (GRCm39)	E120G	probably damaging	Het
Heatr3	T	A	8: 88,868,404 (GRCm39)	N51K	probably damaging	Het
Hipk2	T	C	6: 38,795,720 (GRCm39)	D183G	probably damaging	Het
Hnrnpll	T	A	17: 80,342,806 (GRCm39)	T439S	probably benign	Het
Hoxd3	A	C	2: 74,574,610 (GRCm39)	E85D	probably damaging	Het
Ipo8	A	T	6: 148,690,660 (GRCm39)	M694K	probably damaging	Het
Jag2	A	G	12: 112,883,997 (GRCm39)	I194T	probably damaging	Het
Jrkl	A	T	9: 13,244,864 (GRCm39)	F266I	probably damaging	Het
Kcnt1	A	G	2: 25,790,260 (GRCm39)	I436V	possibly damaging	Het
Kdm3b	A	T	18: 34,936,570 (GRCm39)	D284V	probably damaging	Het
Khdrbs2	A	G	1: 32,506,955 (GRCm39)	T200A	probably benign	Het
Kmt2c	T	C	5: 25,557,278 (GRCm39)	D1143G	possibly damaging	Het
Kremen1	G	GGGGT	11: 5,151,794 (GRCm39)		probably null	Het
Lama2	A	C	10: 27,245,049 (GRCm39)	I244S	probably damaging	Het
Lama5	G	A	2: 179,867,301 (GRCm39)	P99S	possibly damaging	Het
Lrrc30	A	T	17: 67,938,875 (GRCm39)	L235Q	possibly damaging	Het
Man2b2	C	T	5: 36,971,716 (GRCm39)	V667M	possibly damaging	Het
Mmp2	T	A	8: 93,576,817 (GRCm39)	N77K	probably damaging	Het
Myo1a	A	G	10: 127,556,482 (GRCm39)	E1009G	probably benign	Het
Ndst1	A	G	18: 60,828,581 (GRCm39)	Y658H	probably damaging	Het
Nlrp10	A	G	7: 108,524,835 (GRCm39)	L215P	possibly damaging	Het
Nrbp1	T	C	5: 31,408,417 (GRCm39)	F526L	probably benign	Het
Or10p21	T	C	10: 128,847,898 (GRCm39)	V248A	probably damaging	Het
Or51t4	T	A	7: 102,598,702 (GRCm39)	F333L	probably benign	Het
Pcdhb20	A	G	18: 37,638,224 (GRCm39)	Q250R	probably benign	Het
Pcdhb3	T	A	18: 37,436,362 (GRCm39)	L776Q	possibly damaging	Het
Pik3cb	A	T	9: 98,942,257 (GRCm39)	M700K	probably benign	Het
Pla2g6	C	T	15: 79,197,194 (GRCm39)	V127M	probably damaging	Het
Rabgef1	T	C	5: 130,219,776 (GRCm39)	S80P	probably damaging	Het
Sema3a	C	T	5: 13,501,098 (GRCm39)	T47I	possibly damaging	Het
Sik2	C	T	9: 50,818,706 (GRCm39)		probably null	Het
Sin3a	T	C	9: 56,996,807 (GRCm39)	V112A	probably benign	Het
Slc26a6	G	A	9: 108,736,257 (GRCm39)	A472T	probably damaging	Het
Syne1	A	G	10: 5,311,502 (GRCm39)	V561A	probably benign	Het
Syt16	C	T	12: 74,285,073 (GRCm39)	T422I	probably damaging	Het
Tlr11	A	T	14: 50,598,437 (GRCm39)	H141L	probably damaging	Het
Tmem252	A	T	19: 24,655,017 (GRCm39)	E131D	probably benign	Het
Trim55	T	G	3: 19,698,830 (GRCm39)	L20V	probably damaging	Het
Uqcrfs1	A	T	13: 30,725,291 (GRCm39)	V83D	probably benign	Het
Utf1	C	T	7: 139,524,808 (GRCm39)	R309*	probably null	Het
Uxs1	T	C	1: 43,804,133 (GRCm39)	T261A	probably damaging	Het
Vmn1r24	T	C	6: 57,932,655 (GRCm39)	I288V	probably benign	Het
Vmn1r80	A	T	7: 11,927,121 (GRCm39)	D77V	probably damaging	Het
Vmn2r74	T	G	7: 85,606,383 (GRCm39)	H321P	probably benign	Het
Zfp638	T	C	6: 83,930,371 (GRCm39)		probably null	Het
Zwilch	T	A	9: 64,060,856 (GRCm39)	Q332L	probably damaging	Het
Zwilch	G	T	9: 64,060,857 (GRCm39)	Q332K	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
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
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'- TTGCACCCTGGATTATGACCC -3'
(R):5'- GCTCTTGAGCAGACAGAACG -3'

Sequencing Primer
(F):5'- ACTTAGCGGCTATATGACCCG -3'
(R):5'- TCTTGAGCAGACAGAACGATCCAC -3'

Posted On

2014-09-17