Mutagenetix > Incidental Mutation

Incidental Mutation 'R7339:Padi1'

569692

Institutional Source

Beutler Lab

Gene Symbol

Padi1

Ensembl Gene

ENSMUSG00000025329

Gene Name

peptidyl arginine deiminase, type I

Synonyms

Pad type 1, Pdi1

MMRRC Submission

045429-MU

Accession Numbers

Essential gene?

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

Stock #

R7339 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140540294-140573089 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140556545 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 190 (D190G)

Ref Sequence

ENSEMBL: ENSMUSP00000026378 (fasta)

Gene Model

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

AlphaFold

Q9Z185

Predicted Effect

probably null
Transcript: ENSMUST00000026378
AA Change: D190G

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000026378
Gene: ENSMUSG00000025329
AA Change: D190G

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

0.6676

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (61/61)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	C	5: 113,330,938 (GRCm39)	D1092G	probably benign	Het
Abcb11	C	T	2: 69,130,211 (GRCm39)	D282N	probably damaging	Het
Ahnak	A	T	19: 8,985,529 (GRCm39)	N2271I	possibly damaging	Het
Amz1	A	G	5: 140,727,306 (GRCm39)	S90G	probably benign	Het
Arhgap5	A	G	12: 52,564,481 (GRCm39)	E484G	possibly damaging	Het
Arid3c	A	G	4: 41,729,883 (GRCm39)		probably null	Het
Atp1a1	T	C	3: 101,497,188 (GRCm39)	I373V	probably benign	Het
Barhl1	T	C	2: 28,799,899 (GRCm39)	E242G	probably damaging	Het
Bltp2	G	A	11: 78,163,210 (GRCm39)		probably null	Het
Cactin	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	10: 81,157,152 (GRCm39)		probably benign	Het
Casz1	T	A	4: 149,036,202 (GRCm39)	V1488E	probably damaging	Het
Ccdc175	C	A	12: 72,182,815 (GRCm39)	Q401H	probably damaging	Het
Cfap36	T	C	11: 29,175,925 (GRCm39)	Y191C	probably benign	Het
Chmp2b	G	A	16: 65,342,232 (GRCm39)	Q119*	probably null	Het
Cps1	T	A	1: 67,236,174 (GRCm39)	I969N	possibly damaging	Het
Dennd5a	A	G	7: 109,500,366 (GRCm39)	F920L	probably damaging	Het
Dnah12	A	T	14: 26,594,277 (GRCm39)	T3410S	probably benign	Het
Fbxo42	T	G	4: 140,927,455 (GRCm39)	S578R	possibly damaging	Het
Fcgr1	C	T	3: 96,191,615 (GRCm39)	G398R	not run	Het
Foxa3	A	T	7: 18,748,794 (GRCm39)	Y111N	probably damaging	Het
Gabbr2	T	C	4: 46,846,340 (GRCm39)	K190E	probably benign	Het
Gbp10	T	C	5: 105,367,964 (GRCm39)	Y403C	possibly damaging	Het
Hsd3b5	A	G	3: 98,529,390 (GRCm39)	I80T	probably damaging	Het
Kri1	T	G	9: 21,197,883 (GRCm39)	Q89P		Het
Lrp6	G	T	6: 134,427,781 (GRCm39)	P1604T	probably damaging	Het
Metap1	T	C	3: 138,171,898 (GRCm39)		probably null	Het
Mkrn3	C	T	7: 62,069,530 (GRCm39)	R87H	probably benign	Het
Ms4a6d	G	A	19: 11,567,437 (GRCm39)	Q155*	probably null	Het
Myh6	T	C	14: 55,199,025 (GRCm39)		probably null	Het
Naip6	G	T	13: 100,452,527 (GRCm39)	P178Q	probably damaging	Het
Ncapg2	A	G	12: 116,378,454 (GRCm39)	E160G	probably damaging	Het
Nek6	G	A	2: 38,450,977 (GRCm39)	A127T	probably damaging	Het
Nell1	T	C	7: 49,929,297 (GRCm39)	V264A	probably benign	Het
Nlrp2	T	A	7: 5,330,627 (GRCm39)	I590F	possibly damaging	Het
Or13j1	C	T	4: 43,706,080 (GRCm39)	A163T	probably benign	Het
Or2y17	G	A	11: 49,231,875 (GRCm39)	R172Q	not run	Het
Or4f57	A	T	2: 111,790,956 (GRCm39)	M154K	probably benign	Het
Or4f6	A	G	2: 111,838,820 (GRCm39)	L237P	probably damaging	Het
Or52n4b	A	C	7: 108,144,107 (GRCm39)	D125A	probably damaging	Het
Otop3	T	A	11: 115,237,204 (GRCm39)	L556Q	probably damaging	Het
Pald1	T	C	10: 61,159,110 (GRCm39)	S774G	possibly damaging	Het
Pde10a	C	T	17: 8,975,860 (GRCm39)	T55I	probably benign	Het
Pla2g4d	T	C	2: 120,109,459 (GRCm39)	M197V	probably benign	Het
Prom1	C	A	5: 44,258,995 (GRCm39)		probably benign	Het
Ptdss1	A	G	13: 67,111,426 (GRCm39)	H164R	possibly damaging	Het
Rrh	A	T	3: 129,604,262 (GRCm39)	I313N	probably damaging	Het
Slc35b4	A	G	6: 34,144,591 (GRCm39)	I88T	probably damaging	Het
Slc38a11	C	T	2: 65,156,914 (GRCm39)	V353I	probably benign	Het
Spata31e3	A	T	13: 50,401,204 (GRCm39)	I374N	possibly damaging	Het
Spdef	T	A	17: 27,939,219 (GRCm39)	E42D	probably benign	Het
Tgoln1	G	C	6: 72,593,261 (GRCm39)	T73R	probably benign	Het
Tmx1	A	G	12: 70,505,624 (GRCm39)	D129G	probably benign	Het
Trav13n-4	A	T	14: 53,601,435 (GRCm39)	Y68F	probably benign	Het
Trp53	T	C	11: 69,480,015 (GRCm39)	S238P	probably damaging	Het
Trp53bp1	T	C	2: 121,066,950 (GRCm39)	D592G	probably benign	Het
Ttll5	T	C	12: 85,904,238 (GRCm39)		probably null	Het
Urb1	CACTTAC	CAC	16: 90,569,461 (GRCm39)		probably benign	Het
Vmn2r43	A	T	7: 8,258,306 (GRCm39)	Y302*	probably null	Het
Vps13d	C	T	4: 144,847,938 (GRCm39)	V2478I		Het
Vps35l	A	T	7: 118,409,194 (GRCm39)	I612F	probably damaging	Het
Wsb1	A	G	11: 79,131,184 (GRCm39)	V404A	probably damaging	Het
Zfc3h1	A	G	10: 115,239,205 (GRCm39)	D539G	probably damaging	Het
Zfp318	T	C	17: 46,722,173 (GRCm39)	V1392A	probably damaging	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
R5622:Padi1	UTSW	4	140,552,266 (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
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'- ACTGTTCCCTGATGGAGTAGC -3'
(R):5'- TCCTGTTGGTAAACTGTGACAG -3'

Sequencing Primer
(F):5'- GTAGCCATGCAAGCCACAGTG -3'
(R):5'- CTGTGACAGAGATATCCATGGGTCC -3'

Posted On

2019-09-13