Mutagenetix > Incidental Mutation

Incidental Mutation 'R5622:Padi1'

441618

Institutional Source

Beutler Lab

Gene Symbol

Padi1

Ensembl Gene

ENSMUSG00000025329

Gene Name

peptidyl arginine deiminase, type I

Synonyms

Pad type 1, Pdi1

MMRRC Submission

043161-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R5622 (G1)

Quality Score

218

Status

Validated

Chromosome

Chromosomal Location

140540294-140573089 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 140552266 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 393 (V393L)

Ref Sequence

ENSEMBL: ENSMUSP00000026378 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026378]

AlphaFold

Q9Z185

Predicted Effect

probably damaging
Transcript: ENSMUST00000026378
AA Change: V393L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000026378
Gene: ENSMUSG00000025329
AA Change: V393L

Domain	Start	End	E-Value	Type
Pfam:PAD_N	1	113	5.4e-39	PFAM
Pfam:PAD_M	115	272	1.3e-63	PFAM
Pfam:PAD	280	659	9.4e-170	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.2%
20x: 95.2%

Validation Efficiency

97% (69/71)

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 I enzyme is involved in the late stages of epidermal differentiation, where it deiminates filaggrin and keratin K1, which maintains hydration of the stratum corneum, and hence the cutaneous barrier function. This enzyme may also play a role in hair follicle formation. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	T	17: 24,546,642 (GRCm39)	S320T	probably benign	Het
Alg8	T	A	7: 97,036,006 (GRCm39)		probably benign	Het
Anp32b	G	A	4: 46,469,930 (GRCm39)	E202K	unknown	Het
Apcdd1	A	G	18: 63,069,973 (GRCm39)		probably null	Het
Apobec2	A	G	17: 48,730,444 (GRCm39)	V74A	possibly damaging	Het
Arid3c	A	T	4: 41,729,959 (GRCm39)	C79S	probably benign	Het
Atp1a2	A	T	1: 172,118,994 (GRCm39)		probably benign	Het
B2m	A	T	2: 121,981,471 (GRCm39)	N62I	probably damaging	Het
Borcs5	T	C	6: 134,663,086 (GRCm39)		probably null	Het
Ccn1	A	G	3: 145,355,075 (GRCm39)	L60P	probably damaging	Het
Cdk11b	A	G	4: 155,714,674 (GRCm39)	K127E	probably damaging	Het
Cep170	T	C	1: 176,563,433 (GRCm39)	H726R	possibly damaging	Het
Col5a2	A	C	1: 45,466,219 (GRCm39)	S190A	probably benign	Het
Cryba4	T	C	5: 112,398,990 (GRCm39)	D5G	probably damaging	Het
Cyp2a5	T	G	7: 26,535,299 (GRCm39)	V87G	probably damaging	Het
Dcaf8	A	G	1: 172,013,965 (GRCm39)		probably benign	Het
Dchs1	A	G	7: 105,404,500 (GRCm39)	S2681P	probably benign	Het
Ddx20	A	G	3: 105,586,327 (GRCm39)	S673P	probably damaging	Het
Deptor	T	A	15: 55,044,428 (GRCm39)	I198N	probably damaging	Het
Ebf2	T	C	14: 67,628,007 (GRCm39)	I334T	possibly damaging	Het
F5	A	G	1: 164,020,134 (GRCm39)	R870G	probably benign	Het
Flg2	A	C	3: 93,109,871 (GRCm39)	H633P	unknown	Het
Gm11938	T	A	11: 99,494,119 (GRCm39)		probably null	Het
Gm6370	A	G	5: 146,430,708 (GRCm39)	T298A	probably benign	Het
H60b	C	A	10: 22,159,441 (GRCm39)		probably benign	Het
Hsbp1	A	G	8: 120,071,324 (GRCm39)	T4A	possibly damaging	Het
Hsd3b3	A	T	3: 98,649,524 (GRCm39)	D266E	possibly damaging	Het
Ift172	T	C	5: 31,440,426 (GRCm39)	Y287C	probably damaging	Het
Il20rb	T	A	9: 100,368,371 (GRCm39)	Q4L	probably benign	Het
Krt5	T	C	15: 101,617,470 (GRCm39)	D421G	probably damaging	Het
Lonp1	G	C	17: 56,927,263 (GRCm39)	A330G	probably benign	Het
Me3	A	G	7: 89,445,871 (GRCm39)	D196G	probably damaging	Het
Mfsd12	T	A	10: 81,199,461 (GRCm39)	V451E	probably null	Het
Mib1	A	G	18: 10,794,503 (GRCm39)	N663S	possibly damaging	Het
Mtus2	A	T	5: 148,015,244 (GRCm39)	N679I	probably benign	Het
Myt1	A	G	2: 181,438,915 (GRCm39)	T146A	probably benign	Het
Neb	T	A	2: 52,160,281 (GRCm39)	H2244L	probably damaging	Het
Or51l4	T	C	7: 103,404,376 (GRCm39)	T139A	probably damaging	Het
Or5b21	A	C	19: 12,839,663 (GRCm39)	I175L	probably benign	Het
Or5p81	C	T	7: 108,267,289 (GRCm39)	T222I	probably benign	Het
Pabpc4	A	G	4: 123,185,524 (GRCm39)		probably null	Het
Pax2	A	T	19: 44,806,905 (GRCm39)	D300V	probably damaging	Het
Pcgf2	T	C	11: 97,581,078 (GRCm39)	E71G	probably damaging	Het
Pi4kb	A	G	3: 94,906,172 (GRCm39)	Q573R	possibly damaging	Het
Pitpna	T	A	11: 75,511,153 (GRCm39)	M242K	possibly damaging	Het
Pkd1	A	G	17: 24,793,014 (GRCm39)	E1567G	possibly damaging	Het
Plcb2	A	T	2: 118,545,210 (GRCm39)	S630R	probably damaging	Het
Prrt2	A	T	7: 126,618,937 (GRCm39)	V176D	probably benign	Het
Prss1l	A	C	6: 41,373,084 (GRCm39)	N119H	probably damaging	Het
Prss42	T	C	9: 110,628,490 (GRCm39)		probably null	Het
Rhoq	A	G	17: 87,304,459 (GRCm39)	R197G	probably benign	Het
Rin2	A	T	2: 145,702,299 (GRCm39)	T332S	probably benign	Het
Rnps1-ps	C	T	6: 7,982,605 (GRCm39)		noncoding transcript	Het
Rp1	A	T	1: 4,418,060 (GRCm39)	N1017K	possibly damaging	Het
Setbp1	T	A	18: 78,900,700 (GRCm39)	Y989F	probably damaging	Het
Slc11a1	G	A	1: 74,420,065 (GRCm39)	G191D	probably damaging	Het
Slc35f5	G	A	1: 125,517,693 (GRCm39)	R497Q	probably damaging	Het
Slf1	T	C	13: 77,198,090 (GRCm39)	K728R	probably benign	Het
Tiparp	T	G	3: 65,454,946 (GRCm39)	S364A	probably benign	Het
Tph1	G	A	7: 46,296,969 (GRCm39)	Q409*	probably null	Het
Trp73	A	T	4: 154,145,049 (GRCm39)	I526N	possibly damaging	Het
Ttc9c	G	A	19: 8,793,332 (GRCm39)	R103*	probably null	Het
Vmn2r75	T	A	7: 85,797,702 (GRCm39)	I704F	probably benign	Het
Wdr76	A	G	2: 121,348,216 (GRCm39)	R63G	probably damaging	Het
Zc3h3	T	A	15: 75,648,928 (GRCm39)	S735C	probably damaging	Het
Zfp383	G	A	7: 29,611,615 (GRCm39)	V32M	probably damaging	Het
Zfp810	T	A	9: 22,190,392 (GRCm39)	Y172F	probably benign	Het

Other mutations in Padi1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01844:Padi1	APN	4	140,556,746 (GRCm39)	missense	probably damaging	1.00
IGL01972:Padi1	APN	4	140,546,170 (GRCm39)	splice site	probably benign
IGL03260:Padi1	APN	4	140,555,505 (GRCm39)	missense	probably benign	0.11
R0598:Padi1	UTSW	4	140,542,098 (GRCm39)	missense	possibly damaging	0.84
R1164:Padi1	UTSW	4	140,559,640 (GRCm39)	missense	possibly damaging	0.50
R1793:Padi1	UTSW	4	140,541,967 (GRCm39)	missense	probably damaging	1.00
R4208:Padi1	UTSW	4	140,544,538 (GRCm39)	missense	possibly damaging	0.80
R4256:Padi1	UTSW	4	140,542,089 (GRCm39)	missense	probably damaging	1.00
R4484:Padi1	UTSW	4	140,544,581 (GRCm39)	intron	probably benign
R4926:Padi1	UTSW	4	140,552,158 (GRCm39)	missense	probably damaging	0.99
R4967:Padi1	UTSW	4	140,572,901 (GRCm39)	missense	probably benign	0.00
R5066:Padi1	UTSW	4	140,556,748 (GRCm39)	missense	probably damaging	1.00
R5523:Padi1	UTSW	4	140,542,164 (GRCm39)	missense	probably damaging	1.00
R5850:Padi1	UTSW	4	140,542,141 (GRCm39)	missense	probably benign	0.03
R5870:Padi1	UTSW	4	140,553,892 (GRCm39)	missense	probably benign	0.39
R5951:Padi1	UTSW	4	140,542,140 (GRCm39)	missense	probably damaging	1.00
R6187:Padi1	UTSW	4	140,554,276 (GRCm39)	missense	probably damaging	1.00
R7257:Padi1	UTSW	4	140,556,782 (GRCm39)	missense	probably damaging	1.00
R7326:Padi1	UTSW	4	140,559,715 (GRCm39)	missense	probably benign	0.15
R7339:Padi1	UTSW	4	140,556,545 (GRCm39)	missense	probably null	0.98
R8282:Padi1	UTSW	4	140,542,014 (GRCm39)	missense	probably damaging	1.00
R9083:Padi1	UTSW	4	140,559,602 (GRCm39)	critical splice donor site	probably null
R9590:Padi1	UTSW	4	140,544,552 (GRCm39)	missense	probably damaging	1.00
X0024:Padi1	UTSW	4	140,555,478 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TCTTAGTCCAGAGAGCCACG -3'
(R):5'- CTCTGGGCAGTGACTTGATC -3'

Sequencing Primer
(F):5'- GGTGAGCTTACTGAGTCCTCC -3'
(R):5'- GCAGTGACTTGATCTGATCAGAG -3'

Posted On

2016-11-08