Mutagenetix > Incidental Mutation

Incidental Mutation 'RF004:Padi4'

602681

Institutional Source

Beutler Lab

Gene Symbol

Padi4

Ensembl Gene

ENSMUSG00000025330

Gene Name

peptidyl arginine deiminase, type IV

Synonyms

Pdi4, Pad4, PAD type IV

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF004 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140473176-140501547 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 140487269 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 211 (V211E)

Ref Sequence

ENSEMBL: ENSMUSP00000026381 (fasta)

Gene Model

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

AlphaFold

Q9Z183

Predicted Effect

probably damaging
Transcript: ENSMUST00000026381
AA Change: V211E

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

SMART Domains

Protein: ENSMUSP00000026381
Gene: ENSMUSG00000025330
AA Change: V211E

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

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 99.1%
20x: 97.6%

Validation Efficiency

100% (34/34)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059E24Rik	T	A	19: 21,575,645 (GRCm39)	H126L	probably benign	Het
4930407I10Rik	A	T	15: 81,943,550 (GRCm39)	Q54L	possibly damaging	Het
4930433I11Rik	AACC	A	7: 40,642,479 (GRCm39)		probably benign	Het
Adora2a	A	T	10: 75,168,988 (GRCm39)	T151S	probably benign	Het
Ankhd1	GCGGCG	GCGGCGTCGGCG	18: 36,693,963 (GRCm39)		probably benign	Het
Ankrd36	A	G	11: 5,612,411 (GRCm39)	K1248E	possibly damaging	Het
Anks1b	G	A	10: 89,869,087 (GRCm39)	G49D	probably damaging	Het
Arl11	T	C	14: 61,548,304 (GRCm39)	V38A	probably damaging	Het
Atp2c2	A	T	8: 120,479,561 (GRCm39)	N726Y	probably damaging	Het
Bcat1	T	C	6: 144,953,349 (GRCm39)	K413R	probably benign	Het
Cd244a	C	G	1: 171,405,490 (GRCm39)	Q292E	probably benign	Het
Chp1	T	A	2: 119,411,195 (GRCm39)	D123E	probably damaging	Het
Cpeb4	ACTCT	ACTCTCT	11: 31,877,634 (GRCm39)		probably benign	Het
Ddx6	A	G	9: 44,535,789 (GRCm39)	T173A	possibly damaging	Het
Dlg2	T	A	7: 90,501,885 (GRCm39)	C66S	probably benign	Het
Dnah2	T	A	11: 69,328,013 (GRCm39)	Q3370L	probably benign	Het
Dnmt1	GCACAGTTCCTACCTCGTT	GCACAGTTCCTACCTCGTTTTGGGGGCGGAACACAGTTCCTACCTCGTT	9: 20,821,423 (GRCm39)		probably null	Het
Dop1a	T	C	9: 86,436,244 (GRCm39)	V2420A	probably benign	Het
Gm8369	GTGTGT	GTGTGTATGTGT	19: 11,489,118 (GRCm39)		probably benign	Het
Igkv6-25	TTGACGGA	T	6: 70,192,647 (GRCm39)		probably null	Het
Iqgap1	G	A	7: 80,370,623 (GRCm39)	A1582V	probably benign	Het
Lmnb1	T	C	18: 56,864,046 (GRCm39)	I217T	possibly damaging	Het
Mamld1	CAG	CAGTAG	X: 70,162,437 (GRCm39)		probably null	Het
Map2k2	A	T	10: 80,951,002 (GRCm39)	H149L	probably benign	Het
Med12l	CAG	CAGAAG	3: 59,183,390 (GRCm39)		probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Nxph2	G	A	2: 23,290,080 (GRCm39)	R144Q	probably damaging	Het
Or2t48	CA	C	11: 58,419,983 (GRCm39)		probably null	Het
Or51f1e	T	TTAG	7: 102,747,516 (GRCm39)		probably null	Het
Or51f1e	GTTAT	GTTATTAT	7: 102,747,512 (GRCm39)			Het
Or51f1e	AT	ATTCT	7: 102,747,515 (GRCm39)		probably benign	Het
Or51q1	TCC	TCCC	7: 103,629,110 (GRCm39)		probably null	Het
Or52n20	A	G	7: 104,320,248 (GRCm39)	E113G	probably damaging	Het
Or8d2	T	C	9: 38,760,114 (GRCm39)	F235L	probably benign	Het
Prdm10	A	C	9: 31,270,422 (GRCm39)	D902A	probably damaging	Het
Prps1l1	A	G	12: 35,035,398 (GRCm39)	D171G	probably damaging	Het
Rasal3	A	T	17: 32,610,081 (GRCm39)	N1035K	probably damaging	Het
Rassf6	GGTCCTGTAGAGCAATGGGGATTC	GGTCCTGTAGAGCAATGGGGATTCTGCATCACTCATTGTCCTGTAGAGCAATGGGGATTC	5: 90,756,778 (GRCm39)		probably benign	Het
Rbm26	A	G	14: 105,388,931 (GRCm39)	V320A	probably damaging	Het
S1pr1	A	T	3: 115,506,536 (GRCm39)	Y19*	probably null	Het
Slc22a16	A	C	10: 40,479,642 (GRCm39)	L571F	possibly damaging	Het
Smarca2	CAGC	CAGCCCAAGC	19: 26,608,420 (GRCm39)		probably benign	Het
Ssx2ip	A	T	3: 146,132,195 (GRCm39)	K219*	probably null	Het
Trav15-2-dv6-2	AAG	AAGCAG	14: 53,887,212 (GRCm39)		probably benign	Het
Trav15-2-dv6-2	GGGAG	GGGAGGAG	14: 53,887,207 (GRCm39)		probably benign	Het
Trav15-2-dv6-2	GAA	GAATAA	14: 53,887,211 (GRCm39)		probably null	Het
Tsen15	A	G	1: 152,259,470 (GRCm39)	V63A	probably damaging	Het
Ttc21a	A	G	9: 119,795,838 (GRCm39)	Y1224C	probably damaging	Het
Usp54	T	A	14: 20,611,368 (GRCm39)	E1149D	possibly damaging	Het
Vmn2r37	A	T	7: 9,220,686 (GRCm39)	S392R	probably damaging	Het
Wdr97	GAGGAGGA	G	15: 76,247,373 (GRCm39)		probably null	Het
Zfp663	G	T	2: 165,200,363 (GRCm39)	H72Q	probably benign	Het
Zfp683	TGTGG	TGTGGTGG	4: 133,786,185 (GRCm39)		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
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
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'- GTTCTCAACTGGGACAAGCTC -3'
(R):5'- AAAGCCAGGCTCCTTTGTGG -3'

Sequencing Primer
(F):5'- TGGGACAAGCTCAGGTCAC -3'
(R):5'- CAGGCTCCTTTGTGGCAGTG -3'

Posted On

2019-12-04