Mutagenetix > Incidental Mutation

Incidental Mutation 'R5266:Padi4'

401689

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

042858-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5266 (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 140473442 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 665 (V665A)

Ref Sequence

ENSEMBL: ENSMUSP00000026381 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026381] [ENSMUST00000038749] [ENSMUST00000130267]

AlphaFold

Q9Z183

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026381
AA Change: V665A

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000026381
Gene: ENSMUSG00000025330
AA Change: V665A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000038749

SMART Domains

Protein: ENSMUSP00000044044
Gene: ENSMUSG00000040935

Domain	Start	End	E-Value	Type
Pfam:PAD_N	1	112	5.6e-38	PFAM
Pfam:PAD_M	114	269	6e-53	PFAM
Pfam:PAD	280	679	4.7e-149	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130267

SMART Domains

Protein: ENSMUSP00000123490
Gene: ENSMUSG00000040935

Domain	Start	End	E-Value	Type
Pfam:PAD_M	39	191	1.1e-57	PFAM

Meta Mutation Damage Score

0.2487

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

97% (56/58)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	T	C	18: 70,591,455 (GRCm39)	N457S	probably damaging	Het
Asic4	G	A	1: 75,427,567 (GRCm39)	G31E	probably benign	Het
Atp2a3	A	G	11: 72,866,223 (GRCm39)	D281G	probably damaging	Het
Azin1	T	C	15: 38,491,795 (GRCm39)	D387G	probably benign	Het
Bdp1	T	C	13: 100,204,043 (GRCm39)	M660V	probably benign	Het
Catsperg2	G	A	7: 29,416,491 (GRCm39)	T307M	probably damaging	Het
Cfap54	T	G	10: 92,651,764 (GRCm39)	K3095N	probably benign	Het
Chl1	A	G	6: 103,677,504 (GRCm39)	N706S	probably damaging	Het
Crym	A	G	7: 119,798,517 (GRCm39)	V113A	probably benign	Het
Cux1	A	G	5: 136,341,548 (GRCm39)	S607P	probably damaging	Het
Cyp3a44	T	C	5: 145,731,207 (GRCm39)	N198D	possibly damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Elac1	A	G	18: 73,875,740 (GRCm39)	V97A	probably benign	Het
Erbb3	G	A	10: 128,405,505 (GRCm39)	T1251M	probably damaging	Het
Gask1b	T	A	3: 79,843,910 (GRCm39)	N12K	probably damaging	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Hydin	A	G	8: 111,061,416 (GRCm39)	H316R	possibly damaging	Het
Ikzf3	A	T	11: 98,381,406 (GRCm39)	M58K	probably benign	Het
Lyst	T	C	13: 13,835,555 (GRCm39)	Y1746H	probably damaging	Het
Map3k11	T	A	19: 5,750,622 (GRCm39)	N613K	probably benign	Het
Mfng	C	T	15: 78,648,588 (GRCm39)	R163H	probably benign	Het
Mrm1	A	T	11: 84,710,086 (GRCm39)	L38Q	possibly damaging	Het
Myo7b	A	G	18: 32,131,787 (GRCm39)	F470L	probably damaging	Het
Ndst2	G	A	14: 20,774,555 (GRCm39)	R834W	probably damaging	Het
Opa1	T	A	16: 29,436,948 (GRCm39)	I637N	probably benign	Het
Or52h9	A	T	7: 104,203,026 (GRCm39)	Q300L	probably benign	Het
Or5d43	T	C	2: 88,104,565 (GRCm39)	Y276C	possibly damaging	Het
Pcdh1	A	G	18: 38,325,252 (GRCm39)	Y897H	probably damaging	Het
Pkp3	A	G	7: 140,663,190 (GRCm39)	D345G	probably damaging	Het
Pla2g4a	T	C	1: 149,740,918 (GRCm39)	M366V	possibly damaging	Het
Pnkp	C	T	7: 44,511,827 (GRCm39)	S113L	probably damaging	Het
Pon3	T	C	6: 5,240,860 (GRCm39)	D34G	possibly damaging	Het
Ppargc1b	A	T	18: 61,448,876 (GRCm39)	S133T	probably damaging	Het
Ppp4r3b	T	C	11: 29,123,309 (GRCm39)	S2P	possibly damaging	Het
Rbm20	A	G	19: 53,801,818 (GRCm39)	T109A	probably damaging	Het
Rexo5	C	A	7: 119,443,660 (GRCm39)	H690Q	probably benign	Het
Scube2	C	T	7: 109,408,437 (GRCm39)	G670D	probably damaging	Het
Sipa1l2	T	C	8: 126,218,865 (GRCm39)	I157M	probably damaging	Het
Slbp	A	T	5: 33,801,210 (GRCm39)	I167N	probably damaging	Het
Sry	C	G	Y: 2,662,975 (GRCm39)	Q228H	unknown	Het
Stk36	T	C	1: 74,650,317 (GRCm39)	V283A	probably benign	Het
Tead1	A	G	7: 112,358,673 (GRCm39)		probably benign	Het
Tecpr2	G	C	12: 110,881,836 (GRCm39)	W135S	probably damaging	Het
Tha1	A	C	11: 117,760,502 (GRCm39)	S241A	probably damaging	Het
Ttc39a	A	T	4: 109,279,701 (GRCm39)	I112F	probably benign	Het
Vmn1r128	A	T	7: 21,083,328 (GRCm39)	T11S	probably benign	Het
Vnn1	G	A	10: 23,779,303 (GRCm39)	C404Y	probably damaging	Het
Wdr41	T	C	13: 95,131,759 (GRCm39)	F57L	probably damaging	Het
Zfp975	T	G	7: 42,311,654 (GRCm39)	T320P	probably damaging	Het
Zfp985	A	T	4: 147,667,289 (GRCm39)		probably null	Het
Zfpm2	T	C	15: 40,962,865 (GRCm39)	S176P	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
R0528:Padi4	UTSW	4	140,496,740 (GRCm39)	missense	possibly damaging	0.75
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
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'- CTATGCAAGGACCATTTGAGGACAC -3'
(R):5'- CTTTGGGCCCATCATCGATG -3'

Sequencing Primer
(F):5'- CCATTTGAGGACACACAGAGATG -3'
(R):5'- ATCATCGATGGCCACTGCTG -3'

Posted On

2016-07-06