Mutagenetix > Incidental Mutations

Incidental Mutation 'R6084:Padi3'

482368

Institutional Source

Beutler Lab

Gene Symbol

Padi3

Ensembl Gene

ENSMUSG00000025328

Gene Name

peptidyl arginine deiminase, type III

Synonyms

PAD type III, Pdi3, Pad3

MMRRC Submission

044243-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6084 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

140785365-140810648 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 140795843 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 292 (T292N)

Ref Sequence

ENSEMBL: ENSMUSP00000130721 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026377] [ENSMUST00000172098]

Predicted Effect

probably damaging
Transcript: ENSMUST00000026377
AA Change: T302N

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

SMART Domains

Protein: ENSMUSP00000026377
Gene: ENSMUSG00000025328
AA Change: T302N

Domain	Start	End	E-Value	Type
Pfam:PAD_N	1	113	2.1e-38	PFAM
Pfam:PAD_M	115	273	4.2e-61	PFAM
Pfam:PAD	283	661	2.3e-169	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000172098
AA Change: T292N

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

SMART Domains

Protein: ENSMUSP00000130721
Gene: ENSMUSG00000025328
AA Change: T292N

Domain	Start	End	E-Value	Type
Pfam:PAD_N	14	103	3.9e-29	PFAM
Pfam:PAD_M	105	263	2.9e-69	PFAM
Pfam:PAD	268	654	5.3e-226	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

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 III enzyme modulates hair structural proteins, such as filaggrin in the hair follicle and trichohyalin in the inner root sheath, during hair follicle formation. Together with the type I enzyme, this enzyme may also play a role in terminal differentiation of the epidermis. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit alterations in coat/ hair and vibrissa morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap2	T	C	5: 62,670,954	D958G	possibly damaging	Het
Bag4	T	C	8: 25,771,231	T161A	probably benign	Het
Bora	A	T	14: 99,062,294	Q234L	possibly damaging	Het
Cacna2d2	T	C	9: 107,497,521		probably null	Het
Cass4	G	T	2: 172,426,912	A307S	probably benign	Het
Cbln4	A	T	2: 172,042,096	V68E	probably damaging	Het
Cc2d2a	T	A	5: 43,668,673	N2K	probably benign	Het
Ccnf	T	A	17: 24,231,837	D389V	probably damaging	Het
Cdipt	T	C	7: 126,979,601	S161P	probably benign	Het
Ceacam19	T	C	7: 19,882,887	I161V	probably benign	Het
Cfap65	A	G	1: 74,920,405	I862T	probably damaging	Het
Cfi	T	A	3: 129,858,370	L230Q	probably benign	Het
Chac2	G	A	11: 30,986,159	R30W	probably damaging	Het
Cmc2	G	A	8: 116,889,827		probably benign	Het
Col1a2	A	T	6: 4,505,840	M1L	probably benign	Het
Cox8a	C	A	19: 7,217,418	R32L	possibly damaging	Het
Cubn	T	A	2: 13,430,897	N1083Y	probably damaging	Het
D430042O09Rik	G	A	7: 125,814,865	G394R	probably benign	Het
D630003M21Rik	T	C	2: 158,217,584	D132G	probably damaging	Het
Dedd2	G	A	7: 25,211,290	P154S	probably benign	Het
Dnaaf3	T	C	7: 4,524,213	D358G	probably benign	Het
Dysf	T	A	6: 84,019,604	F29L	probably damaging	Het
Dysf	T	C	6: 84,112,119	L888P	probably damaging	Het
Ebf4	A	G	2: 130,309,723	D277G	probably damaging	Het
Ecm2	T	A	13: 49,515,094	L91*	probably null	Het
Foxs1	T	C	2: 152,932,842	D97G	possibly damaging	Het
Frs2	A	C	10: 117,076,809		probably null	Het
Gm6768	A	G	12: 119,261,651		noncoding transcript	Het
Grp	A	T	18: 65,879,937	D58V	probably damaging	Het
Hif1a	T	G	12: 73,941,842	F537C	probably damaging	Het
Icam4	G	A	9: 21,029,539	S29N	probably benign	Het
Itfg1	T	C	8: 85,726,170	E523G	probably benign	Het
Jph2	T	C	2: 163,375,680	K359E	probably damaging	Het
Kcnq2	A	T	2: 181,087,656	V490E	possibly damaging	Het
Klhl18	C	T	9: 110,428,727	M548I	possibly damaging	Het
Lpin3	A	G	2: 160,895,801	Y197C	probably benign	Het
Lrp1	T	C	10: 127,560,553	N2381D	probably benign	Het
Man1a	A	T	10: 53,919,211	W649R	probably damaging	Het
Map4	T	C	9: 110,064,292	L542P	probably damaging	Het
Mboat2	A	T	12: 24,878,285	H52L	probably damaging	Het
Mok	C	G	12: 110,814,946	S91T	probably benign	Het
Mtmr11	G	T	3: 96,168,084	R360L	probably damaging	Het
Myt1l	G	A	12: 29,832,332	G509R	unknown	Het
Olfr1288	A	T	2: 111,479,389	N202Y	probably damaging	Het
Olfr341	A	G	2: 36,479,512	V206A	probably benign	Het
Olfr544	T	C	7: 102,484,389	T244A	probably damaging	Het
Olfr67	C	T	7: 103,787,955	M107I	probably benign	Het
Olfr836	A	G	9: 19,121,327	D121G	probably damaging	Het
Olfr867	A	T	9: 20,054,883	H75Q	possibly damaging	Het
Pard6g	A	C	18: 80,117,205	T178P	possibly damaging	Het
Pkd1l2	A	T	8: 117,013,987	Y2124N	probably damaging	Het
Plxdc1	G	A	11: 97,928,463	T398I	probably damaging	Het
Prickle2	A	T	6: 92,416,848	C225*	probably null	Het
Prmt2	G	A	10: 76,210,444	T317I	probably benign	Het
Psg22	T	G	7: 18,719,780	N172K	probably benign	Het
Ptpn9	C	T	9: 57,033,163	R196*	probably null	Het
Rap1b	C	T	10: 117,824,611	V14I	probably damaging	Het
Rapgef4	T	A	2: 72,196,278		probably null	Het
Rlf	A	T	4: 121,149,215	M856K	possibly damaging	Het
Rnf149	A	G	1: 39,577,174	L34P	probably benign	Het
Rock1	T	C	18: 10,101,007	E636G	probably benign	Het
Rsad2	A	T	12: 26,454,123	Y136N	probably damaging	Het
Ryr3	T	C	2: 112,908,493	H563R	probably damaging	Het
Slc18b1	A	G	10: 23,804,212	M102V	probably benign	Het
Slc34a2	T	A	5: 53,067,647	C377S	possibly damaging	Het
Slco1c1	T	C	6: 141,546,770	V293A	probably benign	Het
Spidr	A	T	16: 16,140,024	S80T	possibly damaging	Het
Syne1	C	T	10: 5,348,994	E1031K	probably damaging	Het
Synj2	G	A	17: 6,017,614	V121I	probably damaging	Het
Synj2	A	T	17: 6,038,098	T1430S	probably damaging	Het
Tecpr2	G	T	12: 110,929,109	K343N	probably damaging	Het
Tmem132d	T	A	5: 127,784,100	I986F	probably benign	Het
Trib1	G	A	15: 59,654,475	R298H	probably damaging	Het
Ttll10	T	A	4: 156,045,357	D283V	probably benign	Het
Ttn	T	A	2: 76,814,779	K673*	probably null	Het
Ubqlnl	T	A	7: 104,148,698	M531L	probably benign	Het
Vmn2r120	A	T	17: 57,525,721	W153R	probably benign	Het
Vmn2r2	A	C	3: 64,117,046	S705A	probably benign	Het
Vmn2r32	T	A	7: 7,464,210	D773V	probably benign	Het
Vmn2r54	T	A	7: 12,632,278	Q243L	probably damaging	Het
Wdr24	C	A	17: 25,824,530	R109S	probably damaging	Het
Zfp113	T	C	5: 138,145,668	M107V	probably benign	Het
Zfp426	G	T	9: 20,470,627	Q341K	possibly damaging	Het
Zfp616	A	T	11: 74,083,846	K314*	probably null	Het

Other mutations in Padi3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00482:Padi3	APN	4	140803624	missense	possibly damaging	0.78
IGL00948:Padi3	APN	4	140788943	missense	possibly damaging	0.92
IGL00949:Padi3	APN	4	140788943	missense	possibly damaging	0.92
IGL01021:Padi3	APN	4	140796334	splice site	probably benign
IGL02400:Padi3	APN	4	140788868	missense	probably benign	0.00
IGL02449:Padi3	APN	4	140789712	critical splice donor site	probably null
IGL02600:Padi3	APN	4	140798156	missense	probably benign	0.15
IGL03342:Padi3	APN	4	140810598	nonsense	probably null
FR4304:Padi3	UTSW	4	140792972	critical splice donor site	probably benign
PIT4544001:Padi3	UTSW	4	140791483	missense	probably benign	0.00
R0455:Padi3	UTSW	4	140795713	missense	probably damaging	1.00
R0743:Padi3	UTSW	4	140786429	missense	probably benign	0.00
R1279:Padi3	UTSW	4	140803577	missense	probably benign	0.00
R2081:Padi3	UTSW	4	140798979	missense	probably damaging	1.00
R3016:Padi3	UTSW	4	140786587	missense	probably damaging	1.00
R3853:Padi3	UTSW	4	140791269	splice site	probably benign
R4599:Padi3	UTSW	4	140798111	missense	probably damaging	1.00
R4909:Padi3	UTSW	4	140795626	missense	probably damaging	1.00
R5370:Padi3	UTSW	4	140810538	nonsense	probably null
R5482:Padi3	UTSW	4	140795843	missense	probably damaging	0.99
R6151:Padi3	UTSW	4	140796394	missense	probably damaging	1.00
R6277:Padi3	UTSW	4	140791161	critical splice donor site	probably null
R6343:Padi3	UTSW	4	140803508	missense	possibly damaging	0.58
R6749:Padi3	UTSW	4	140795853	missense	possibly damaging	0.94
R7096:Padi3	UTSW	4	140800124	missense	probably damaging	1.00
R7403:Padi3	UTSW	4	140800119	missense	probably benign
R7798:Padi3	UTSW	4	140786439	missense	probably benign
R7818:Padi3	UTSW	4	140798142	missense	possibly damaging	0.72
R8375:Padi3	UTSW	4	140798096	missense	probably damaging	1.00
RF025:Padi3	UTSW	4	140792972	critical splice donor site	probably benign
RF032:Padi3	UTSW	4	140792972	critical splice donor site	probably benign
RF040:Padi3	UTSW	4	140792972	critical splice donor site	probably benign
RF043:Padi3	UTSW	4	140792972	critical splice donor site	probably benign
Z1176:Padi3	UTSW	4	140795671	missense	possibly damaging	0.92
Z1176:Padi3	UTSW	4	140798123	missense	not run
Z1177:Padi3	UTSW	4	140798123	missense	not run

Predicted Primers

PCR Primer
(F):5'- AGATGGTGAGTTTGCAGCC -3'
(R):5'- GAGATAAGGGCCTCAAACTCCC -3'

Posted On

2017-07-14