Mutagenetix > Incidental Mutation

Incidental Mutation 'R5257:Padi4'

399753

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

042855-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5257 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

140473176-140501547 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 140473515 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 641 (V641M)

Ref Sequence

ENSEMBL: ENSMUSP00000026381 (fasta)

Gene Model

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

AlphaFold

Q9Z183

Predicted Effect

probably benign
Transcript: ENSMUST00000026381
AA Change: V641M

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000026381
Gene: ENSMUSG00000025330
AA Change: V641M

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.5%

Validation Efficiency

97% (63/65)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,199,684 (GRCm39)	T128S	possibly damaging	Het
Abca16	T	G	7: 120,035,992 (GRCm39)		probably null	Het
Acp3	T	C	9: 104,186,674 (GRCm39)	I266V	probably benign	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Asf1b	C	T	8: 84,695,896 (GRCm39)	T179I	probably benign	Het
Astn1	A	G	1: 158,440,102 (GRCm39)	K890R	probably damaging	Het
Card11	G	A	5: 140,862,180 (GRCm39)	P1039L	possibly damaging	Het
Cep43	T	C	17: 8,391,775 (GRCm39)	S152P	probably benign	Het
Chsy3	A	G	18: 59,542,866 (GRCm39)	E668G	possibly damaging	Het
Cnot8	T	A	11: 58,008,348 (GRCm39)	N271K	possibly damaging	Het
Dcaf5	G	T	12: 80,444,493 (GRCm39)	P200H	probably damaging	Het
Dkk4	C	A	8: 23,117,031 (GRCm39)	L215I	probably damaging	Het
Dnhd1	C	T	7: 105,323,244 (GRCm39)	T584I	probably benign	Het
Dock3	T	C	9: 106,874,124 (GRCm39)	Y449C	probably damaging	Het
Dsg1a	A	G	18: 20,453,988 (GRCm39)	D31G	probably damaging	Het
Foxi2	C	T	7: 135,012,256 (GRCm39)	T48M	probably benign	Het
Gdf3	T	C	6: 122,583,345 (GRCm39)	M341V	probably damaging	Het
Gm21738	A	G	14: 19,415,942 (GRCm38)	L199S	probably benign	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Igkv4-80	T	A	6: 68,993,811 (GRCm39)	T27S	probably benign	Het
Ipo9	A	T	1: 135,313,173 (GRCm39)	C1019S	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Ktn1	T	A	14: 47,904,820 (GRCm39)	H199Q	probably benign	Het
Kyat3	A	G	3: 142,440,337 (GRCm39)	M354V	probably benign	Het
Lbhd1	A	G	19: 8,861,453 (GRCm39)		probably benign	Het
Llgl1	G	C	11: 60,602,389 (GRCm39)		probably null	Het
Lyzl6	T	A	11: 103,525,899 (GRCm39)	I74F	probably damaging	Het
Mfsd4b2	T	A	10: 39,798,017 (GRCm39)	M113L	probably benign	Het
Mslnl	T	C	17: 25,965,139 (GRCm39)	Y502H	probably benign	Het
Nckap5	A	G	1: 125,952,245 (GRCm39)	S1372P	probably damaging	Het
Nle1	T	C	11: 82,795,772 (GRCm39)	D225G	probably damaging	Het
Or5au1	T	C	14: 52,273,341 (GRCm39)	T76A	possibly damaging	Het
P2rx7	A	G	5: 122,819,066 (GRCm39)	E496G	probably damaging	Het
Phf11d	T	C	14: 59,590,160 (GRCm39)	I221V	possibly damaging	Het
Pla2g2c	G	A	4: 138,458,856 (GRCm39)		probably benign	Het
Prdm16	A	T	4: 154,451,671 (GRCm39)	D179E	possibly damaging	Het
Psca	A	T	15: 74,588,240 (GRCm39)	I56F	probably damaging	Het
Ptrhd1	A	G	12: 4,286,481 (GRCm39)	Y124C	probably damaging	Het
Sardh	T	C	2: 27,134,271 (GRCm39)	T82A	probably damaging	Het
Sesn1	C	T	10: 41,770,984 (GRCm39)	P172S	probably benign	Het
Setd4	T	C	16: 93,393,221 (GRCm39)	T57A	probably damaging	Het
Skint5	T	C	4: 113,434,859 (GRCm39)	T1037A	unknown	Het
Slc18a3	T	C	14: 32,185,777 (GRCm39)	D202G	probably damaging	Het
Slc44a5	G	A	3: 153,948,760 (GRCm39)	C176Y	probably damaging	Het
Slc6a5	G	A	7: 49,579,740 (GRCm39)	V373M	probably damaging	Het
Sorbs3	T	C	14: 70,422,483 (GRCm39)	I523V	probably benign	Het
Sspo	T	C	6: 48,453,428 (GRCm39)	V2872A	probably damaging	Het
Stard9	T	A	2: 120,529,824 (GRCm39)	L2027H	probably damaging	Het
Tex2	T	A	11: 106,458,585 (GRCm39)		probably benign	Het
Tfdp1	C	T	8: 13,419,529 (GRCm39)	T86M	possibly damaging	Het
Ttc6	A	T	12: 57,749,061 (GRCm39)	D1331V	possibly damaging	Het
Vps13b	A	G	15: 35,794,567 (GRCm39)	T2326A	possibly damaging	Het
Wnk1	A	G	6: 120,014,149 (GRCm39)	S149P	probably benign	Het
Zfp521	G	A	18: 13,980,035 (GRCm39)	S126F	probably damaging	Het
Zfp958	A	T	8: 4,678,456 (GRCm39)	E160D	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
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'- AGATCTCTTGCTGCACCTCG -3'
(R):5'- TTAGTCCAGAGACCTGTAGGC -3'

Sequencing Primer
(F):5'- ACTCAGGGCACCATGTG -3'
(R):5'- AGAGACCTGTAGGCCCTAC -3'

Posted On

2016-07-06