Mutagenetix > Incidental Mutation

Incidental Mutation 'R0528:Padi4'

48980

Institutional Source

Beutler Lab

Gene Symbol

Padi4

Ensembl Gene

ENSMUSG00000025330

Gene Name

peptidyl arginine deiminase, type IV

Synonyms

Pdi4, Pad4, PAD type IV

MMRRC Submission

038720-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0528 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

140473176-140501547 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 140496740 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 52 (V52A)

Ref Sequence

ENSEMBL: ENSMUSP00000026381 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026381]

AlphaFold

Q9Z183

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026381
AA Change: V52A

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000026381
Gene: ENSMUSG00000025330
AA Change: V52A

Domain	Start	End	E-Value	Type
Pfam:PAD_N	1	111	2.3e-38	PFAM
Pfam:PAD_M	113	273	2.4e-63	PFAM
Pfam:PAD	283	663	2.4e-176	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.9%

Validation Efficiency

96% (65/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of a gene family which encodes enzymes responsible for the conversion of arginine residues to citrulline residues. This gene may play a role in granulocyte and macrophage development leading to inflammation and immune response. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mice are viable albeit reduced number than expected were born from heterozygous crosses, and shows decreased antibacterial immune responses. Mice homozygous for a different knock-out allele exhibit decreased weight loss in response to viral infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	G	10: 79,838,848 (GRCm39)	W674G	probably damaging	Het
Abcc9	G	A	6: 142,638,606 (GRCm39)	H103Y	probably damaging	Het
Ano7	A	G	1: 93,323,224 (GRCm39)	N495S	probably null	Het
Aoc1l3	T	A	6: 48,964,965 (GRCm39)	D324E	probably benign	Het
Ash1l	A	G	3: 88,889,584 (GRCm39)	N488D	probably benign	Het
Astn2	A	G	4: 65,563,119 (GRCm39)		probably benign	Het
Atraid	T	A	5: 31,209,796 (GRCm39)		probably benign	Het
Baz2b	T	C	2: 59,767,083 (GRCm39)	R866G	probably damaging	Het
Cep164	T	A	9: 45,688,234 (GRCm39)		probably benign	Het
Clec4f	G	A	6: 83,629,776 (GRCm39)	Q261*	probably null	Het
Cpne4	A	T	9: 104,563,640 (GRCm39)	N6Y	probably damaging	Het
Dhx38	G	T	8: 110,289,293 (GRCm39)	Q36K	probably benign	Het
Dna2	C	A	10: 62,793,910 (GRCm39)	Q341K	probably benign	Het
Dynap	A	G	18: 70,375,165 (GRCm39)		probably benign	Het
Eif3l	T	C	15: 78,973,809 (GRCm39)	V408A	probably benign	Het
Foxi3	T	A	6: 70,934,122 (GRCm39)	I203N	probably damaging	Het
Gcc2	T	A	10: 58,134,511 (GRCm39)	L1495Q	probably damaging	Het
Gpr158	A	G	2: 21,830,019 (GRCm39)	D688G	probably damaging	Het
Hcfc2	C	A	10: 82,575,079 (GRCm39)	T246K	probably damaging	Het
Hdc	C	T	2: 126,458,152 (GRCm39)	E57K	probably benign	Het
Iqsec3	G	C	6: 121,389,743 (GRCm39)		probably benign	Het
Islr2	T	A	9: 58,106,645 (GRCm39)	E205V	probably damaging	Het
Klf9	T	C	19: 23,119,498 (GRCm39)	L127P	probably benign	Het
Lamc2	A	T	1: 152,999,840 (GRCm39)	L1173Q	probably damaging	Het
Lipe	G	A	7: 25,097,901 (GRCm39)	T14I	possibly damaging	Het
Lnpep	A	G	17: 17,751,394 (GRCm39)		probably benign	Het
Lrrc15	A	G	16: 30,092,566 (GRCm39)	S258P	probably damaging	Het
Macc1	A	T	12: 119,410,780 (GRCm39)	Y516F	probably benign	Het
Megf6	A	G	4: 154,343,630 (GRCm39)	T718A	probably benign	Het
Mtcl2	A	G	2: 156,862,612 (GRCm39)	L1439P	probably damaging	Het
Myh1	A	G	11: 67,111,445 (GRCm39)	D1628G	probably damaging	Het
Naca	C	T	10: 127,879,162 (GRCm39)	T1398I	probably benign	Het
Or1f12	A	G	13: 21,721,416 (GRCm39)	F238S	possibly damaging	Het
Or2a54	A	T	6: 43,093,150 (GRCm39)	H158L	possibly damaging	Het
Paqr5	G	A	9: 61,863,527 (GRCm39)	T251I	probably damaging	Het
Pcm1	A	G	8: 41,768,967 (GRCm39)	D1611G	probably damaging	Het
Prss12	G	A	3: 123,276,445 (GRCm39)	R358K	probably benign	Het
Racgap1	A	T	15: 99,526,587 (GRCm39)	H325Q	probably damaging	Het
Rbm12b1	A	G	4: 12,145,657 (GRCm39)	H543R	probably benign	Het
Rc3h1	A	T	1: 160,795,228 (GRCm39)	N1076I	probably damaging	Het
Rp1	A	G	1: 4,415,088 (GRCm39)	L2008P	possibly damaging	Het
Rsph3a	A	G	17: 8,164,919 (GRCm39)	H93R	possibly damaging	Het
Sbf1	C	T	15: 89,172,915 (GRCm39)	R1840H	probably damaging	Het
Skic8	T	A	9: 54,630,219 (GRCm39)		probably benign	Het
Sytl2	T	C	7: 90,052,228 (GRCm39)		probably benign	Het
Tbc1d9	T	C	8: 83,937,085 (GRCm39)	S56P	probably damaging	Het
Tiam2	A	T	17: 3,561,346 (GRCm39)	M1304L	probably damaging	Het
Tmprss11b	G	T	5: 86,819,753 (GRCm39)	R9S	probably damaging	Het
Tnfrsf21	T	A	17: 43,348,505 (GRCm39)	I39N	probably benign	Het
Tnrc6b	T	C	15: 80,763,604 (GRCm39)	S369P	probably benign	Het
Tpra1	T	C	6: 88,887,372 (GRCm39)	V217A	probably benign	Het
Uckl1	G	C	2: 181,212,283 (GRCm39)		probably benign	Het
Vmn1r199	A	T	13: 22,566,736 (GRCm39)	Q10L	probably benign	Het
Vmn2r76	A	G	7: 85,879,506 (GRCm39)	S265P	possibly damaging	Het
Vwa5b1	A	T	4: 138,321,662 (GRCm39)	L377Q	probably damaging	Het
Wrap73	A	G	4: 154,229,776 (GRCm39)	D49G	probably damaging	Het
Zfp764	T	A	7: 127,004,051 (GRCm39)	Q360L	possibly damaging	Het
Zfp846	G	A	9: 20,499,224 (GRCm39)		probably benign	Het
Zranb2	T	C	3: 157,240,096 (GRCm39)	I14T	probably benign	Het

Other mutations in Padi4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02439:Padi4	APN	4	140,473,532 (GRCm39)	missense	probably damaging	1.00
R0411:Padi4	UTSW	4	140,475,760 (GRCm39)	critical splice donor site	probably benign
R0544:Padi4	UTSW	4	140,475,760 (GRCm39)	critical splice donor site	probably benign
R0547:Padi4	UTSW	4	140,475,760 (GRCm39)	critical splice donor site	probably benign
R0548:Padi4	UTSW	4	140,475,760 (GRCm39)	critical splice donor site	probably benign
R0633:Padi4	UTSW	4	140,484,896 (GRCm39)	missense	probably damaging	1.00
R1112:Padi4	UTSW	4	140,485,427 (GRCm39)	missense	probably benign	0.04
R1411:Padi4	UTSW	4	140,479,914 (GRCm39)	missense	probably damaging	1.00
R1573:Padi4	UTSW	4	140,484,881 (GRCm39)	missense	possibly damaging	0.86
R1741:Padi4	UTSW	4	140,473,481 (GRCm39)	missense	probably damaging	1.00
R2256:Padi4	UTSW	4	140,487,251 (GRCm39)	missense	possibly damaging	0.77
R2257:Padi4	UTSW	4	140,487,251 (GRCm39)	missense	possibly damaging	0.77
R5257:Padi4	UTSW	4	140,473,515 (GRCm39)	missense	probably benign	0.01
R5266:Padi4	UTSW	4	140,473,442 (GRCm39)	missense	possibly damaging	0.86
R6044:Padi4	UTSW	4	140,475,438 (GRCm39)	missense	possibly damaging	0.94
R6057:Padi4	UTSW	4	140,487,351 (GRCm39)	missense	probably damaging	0.99
R6180:Padi4	UTSW	4	140,483,784 (GRCm39)	missense	possibly damaging	0.87
R7197:Padi4	UTSW	4	140,488,969 (GRCm39)	nonsense	probably null
R7395:Padi4	UTSW	4	140,488,983 (GRCm39)	missense	probably damaging	1.00
R8421:Padi4	UTSW	4	140,475,533 (GRCm39)	missense	probably damaging	1.00
R8546:Padi4	UTSW	4	140,484,841 (GRCm39)	missense	probably damaging	0.98
R8697:Padi4	UTSW	4	140,485,230 (GRCm39)	frame shift	probably null
R8857:Padi4	UTSW	4	140,501,472 (GRCm39)	missense	probably damaging	0.99
R9060:Padi4	UTSW	4	140,477,953 (GRCm39)	missense	probably damaging	1.00
R9261:Padi4	UTSW	4	140,479,926 (GRCm39)	missense	probably damaging	1.00
R9453:Padi4	UTSW	4	140,479,950 (GRCm39)	missense	probably benign	0.15
RF004:Padi4	UTSW	4	140,487,269 (GRCm39)	missense	probably damaging	1.00
X0028:Padi4	UTSW	4	140,473,435 (GRCm39)	makesense	probably null
Z1177:Padi4	UTSW	4	140,483,758 (GRCm39)	missense	possibly damaging	0.77

Predicted Primers

PCR Primer
(F):5'- TGACGGGGACAAATGTGCCATC -3'
(R):5'- AATGCGGTCTCTCTGGTCCAAGTC -3'

Sequencing Primer
(F):5'- cccaccccatcccactc -3'
(R):5'- GTCTCTCTGGTCCAAGTCTAAGG -3'

Posted On

2013-06-12