Mutagenetix > Incidental Mutation

Incidental Mutation 'R6084:Padi3'

482368

Institutional Source

Beutler Lab

Gene Symbol

Padi3

Ensembl Gene

ENSMUSG00000025328

Gene Name

peptidyl arginine deiminase, type III

Synonyms

Pdi3, Pad3, PAD type III

MMRRC Submission

044243-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6084 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

140512680-140537959 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 140523154 bp (GRCm39)

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]

AlphaFold

Q9Z184

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: 62,828,297 (GRCm39)	D958G	possibly damaging	Het
Bag4	T	C	8: 26,261,259 (GRCm39)	T161A	probably benign	Het
Bora	A	T	14: 99,299,730 (GRCm39)	Q234L	possibly damaging	Het
Cacna2d2	T	C	9: 107,374,720 (GRCm39)		probably null	Het
Cass4	G	T	2: 172,268,832 (GRCm39)	A307S	probably benign	Het
Cbln4	A	T	2: 171,884,016 (GRCm39)	V68E	probably damaging	Het
Cc2d2a	T	A	5: 43,826,015 (GRCm39)	N2K	probably benign	Het
Ccnf	T	A	17: 24,450,811 (GRCm39)	D389V	probably damaging	Het
Cdipt	T	C	7: 126,578,773 (GRCm39)	S161P	probably benign	Het
Ceacam19	T	C	7: 19,616,812 (GRCm39)	I161V	probably benign	Het
Cfap65	A	G	1: 74,959,564 (GRCm39)	I862T	probably damaging	Het
Cfi	T	A	3: 129,652,019 (GRCm39)	L230Q	probably benign	Het
Chac2	G	A	11: 30,936,159 (GRCm39)	R30W	probably damaging	Het
Cmc2	G	A	8: 117,616,566 (GRCm39)		probably benign	Het
Col1a2	A	T	6: 4,505,840 (GRCm39)	M1L	probably benign	Het
Cox8a	C	A	19: 7,194,783 (GRCm39)	R32L	possibly damaging	Het
Cubn	T	A	2: 13,435,708 (GRCm39)	N1083Y	probably damaging	Het
D630003M21Rik	T	C	2: 158,059,504 (GRCm39)	D132G	probably damaging	Het
Dedd2	G	A	7: 24,910,715 (GRCm39)	P154S	probably benign	Het
Dnaaf3	T	C	7: 4,527,212 (GRCm39)	D358G	probably benign	Het
Dysf	T	A	6: 83,996,586 (GRCm39)	F29L	probably damaging	Het
Dysf	T	C	6: 84,089,101 (GRCm39)	L888P	probably damaging	Het
Ebf4	A	G	2: 130,151,643 (GRCm39)	D277G	probably damaging	Het
Ecm2	T	A	13: 49,668,570 (GRCm39)	L91*	probably null	Het
Foxs1	T	C	2: 152,774,762 (GRCm39)	D97G	possibly damaging	Het
Frs2	A	C	10: 116,912,714 (GRCm39)		probably null	Het
Grp	A	T	18: 66,013,008 (GRCm39)	D58V	probably damaging	Het
Hif1a	T	G	12: 73,988,616 (GRCm39)	F537C	probably damaging	Het
Icam4	G	A	9: 20,940,835 (GRCm39)	S29N	probably benign	Het
Itfg1	T	C	8: 86,452,799 (GRCm39)	E523G	probably benign	Het
Jph2	T	C	2: 163,217,600 (GRCm39)	K359E	probably damaging	Het
Katnip	G	A	7: 125,414,037 (GRCm39)	G394R	probably benign	Het
Kcnq2	A	T	2: 180,729,449 (GRCm39)	V490E	possibly damaging	Het
Klhl18	C	T	9: 110,257,795 (GRCm39)	M548I	possibly damaging	Het
Lpin3	A	G	2: 160,737,721 (GRCm39)	Y197C	probably benign	Het
Lrp1	T	C	10: 127,396,422 (GRCm39)	N2381D	probably benign	Het
Man1a	A	T	10: 53,795,307 (GRCm39)	W649R	probably damaging	Het
Map4	T	C	9: 109,893,360 (GRCm39)	L542P	probably damaging	Het
Mboat2	A	T	12: 24,928,284 (GRCm39)	H52L	probably damaging	Het
Mok	C	G	12: 110,781,380 (GRCm39)	S91T	probably benign	Het
Mtmr11	G	T	3: 96,075,400 (GRCm39)	R360L	probably damaging	Het
Myt1l	G	A	12: 29,882,331 (GRCm39)	G509R	unknown	Het
Ncoa4-ps	A	G	12: 119,225,386 (GRCm39)		noncoding transcript	Het
Or1j13	A	G	2: 36,369,524 (GRCm39)	V206A	probably benign	Het
Or4g7	A	T	2: 111,309,734 (GRCm39)	N202Y	probably damaging	Het
Or52z1	C	T	7: 103,437,162 (GRCm39)	M107I	probably benign	Het
Or55b4	T	C	7: 102,133,596 (GRCm39)	T244A	probably damaging	Het
Or7d11	A	T	9: 19,966,179 (GRCm39)	H75Q	possibly damaging	Het
Or7g21	A	G	9: 19,032,623 (GRCm39)	D121G	probably damaging	Het
Pard6g	A	C	18: 80,160,420 (GRCm39)	T178P	possibly damaging	Het
Pkd1l2	A	T	8: 117,740,726 (GRCm39)	Y2124N	probably damaging	Het
Plxdc1	G	A	11: 97,819,289 (GRCm39)	T398I	probably damaging	Het
Prickle2	A	T	6: 92,393,829 (GRCm39)	C225*	probably null	Het
Prmt2	G	A	10: 76,046,278 (GRCm39)	T317I	probably benign	Het
Psg22	T	G	7: 18,453,705 (GRCm39)	N172K	probably benign	Het
Ptpn9	C	T	9: 56,940,447 (GRCm39)	R196*	probably null	Het
Rap1b	C	T	10: 117,660,516 (GRCm39)	V14I	probably damaging	Het
Rapgef4	T	A	2: 72,026,622 (GRCm39)		probably null	Het
Rlf	A	T	4: 121,006,412 (GRCm39)	M856K	possibly damaging	Het
Rnf149	A	G	1: 39,616,255 (GRCm39)	L34P	probably benign	Het
Rock1	T	C	18: 10,101,007 (GRCm39)	E636G	probably benign	Het
Rsad2	A	T	12: 26,504,122 (GRCm39)	Y136N	probably damaging	Het
Ryr3	T	C	2: 112,738,838 (GRCm39)	H563R	probably damaging	Het
Slc18b1	A	G	10: 23,680,110 (GRCm39)	M102V	probably benign	Het
Slc34a2	T	A	5: 53,224,989 (GRCm39)	C377S	possibly damaging	Het
Slco1c1	T	C	6: 141,492,496 (GRCm39)	V293A	probably benign	Het
Spidr	A	T	16: 15,957,888 (GRCm39)	S80T	possibly damaging	Het
Syne1	C	T	10: 5,298,994 (GRCm39)	E1031K	probably damaging	Het
Synj2	G	A	17: 6,067,889 (GRCm39)	V121I	probably damaging	Het
Synj2	A	T	17: 6,088,373 (GRCm39)	T1430S	probably damaging	Het
Tecpr2	G	T	12: 110,895,543 (GRCm39)	K343N	probably damaging	Het
Tmem132d	T	A	5: 127,861,164 (GRCm39)	I986F	probably benign	Het
Trib1	G	A	15: 59,526,324 (GRCm39)	R298H	probably damaging	Het
Ttll10	T	A	4: 156,129,814 (GRCm39)	D283V	probably benign	Het
Ttn	T	A	2: 76,645,123 (GRCm39)	K673*	probably null	Het
Ubqlnl	T	A	7: 103,797,905 (GRCm39)	M531L	probably benign	Het
Vmn2r120	A	T	17: 57,832,721 (GRCm39)	W153R	probably benign	Het
Vmn2r2	A	C	3: 64,024,467 (GRCm39)	S705A	probably benign	Het
Vmn2r32	T	A	7: 7,467,209 (GRCm39)	D773V	probably benign	Het
Vmn2r54	T	A	7: 12,366,205 (GRCm39)	Q243L	probably damaging	Het
Wdr24	C	A	17: 26,043,504 (GRCm39)	R109S	probably damaging	Het
Zfp113	T	C	5: 138,143,930 (GRCm39)	M107V	probably benign	Het
Zfp426	G	T	9: 20,381,923 (GRCm39)	Q341K	possibly damaging	Het
Zfp616	A	T	11: 73,974,672 (GRCm39)	K314*	probably null	Het

Other mutations in Padi3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00482:Padi3	APN	4	140,530,935 (GRCm39)	missense	possibly damaging	0.78
IGL00948:Padi3	APN	4	140,516,254 (GRCm39)	missense	possibly damaging	0.92
IGL00949:Padi3	APN	4	140,516,254 (GRCm39)	missense	possibly damaging	0.92
IGL01021:Padi3	APN	4	140,523,645 (GRCm39)	splice site	probably benign
IGL02400:Padi3	APN	4	140,516,179 (GRCm39)	missense	probably benign	0.00
IGL02449:Padi3	APN	4	140,517,023 (GRCm39)	critical splice donor site	probably null
IGL02600:Padi3	APN	4	140,525,467 (GRCm39)	missense	probably benign	0.15
IGL03342:Padi3	APN	4	140,537,909 (GRCm39)	nonsense	probably null
FR4304:Padi3	UTSW	4	140,520,283 (GRCm39)	critical splice donor site	probably benign
PIT4544001:Padi3	UTSW	4	140,518,794 (GRCm39)	missense	probably benign	0.00
R0455:Padi3	UTSW	4	140,523,024 (GRCm39)	missense	probably damaging	1.00
R0743:Padi3	UTSW	4	140,513,740 (GRCm39)	missense	probably benign	0.00
R1279:Padi3	UTSW	4	140,530,888 (GRCm39)	missense	probably benign	0.00
R2081:Padi3	UTSW	4	140,526,290 (GRCm39)	missense	probably damaging	1.00
R3016:Padi3	UTSW	4	140,513,898 (GRCm39)	missense	probably damaging	1.00
R3853:Padi3	UTSW	4	140,518,580 (GRCm39)	splice site	probably benign
R4599:Padi3	UTSW	4	140,525,422 (GRCm39)	missense	probably damaging	1.00
R4909:Padi3	UTSW	4	140,522,937 (GRCm39)	missense	probably damaging	1.00
R5370:Padi3	UTSW	4	140,537,849 (GRCm39)	nonsense	probably null
R5482:Padi3	UTSW	4	140,523,154 (GRCm39)	missense	probably damaging	0.99
R6151:Padi3	UTSW	4	140,523,705 (GRCm39)	missense	probably damaging	1.00
R6277:Padi3	UTSW	4	140,518,472 (GRCm39)	critical splice donor site	probably null
R6343:Padi3	UTSW	4	140,530,819 (GRCm39)	missense	possibly damaging	0.58
R6749:Padi3	UTSW	4	140,523,164 (GRCm39)	missense	possibly damaging	0.94
R7096:Padi3	UTSW	4	140,527,435 (GRCm39)	missense	probably damaging	1.00
R7403:Padi3	UTSW	4	140,527,430 (GRCm39)	missense	probably benign
R7798:Padi3	UTSW	4	140,513,750 (GRCm39)	missense	probably benign
R7818:Padi3	UTSW	4	140,525,453 (GRCm39)	missense	possibly damaging	0.72
R8375:Padi3	UTSW	4	140,525,407 (GRCm39)	missense	probably damaging	1.00
R8887:Padi3	UTSW	4	140,523,795 (GRCm39)	nonsense	probably null
R9036:Padi3	UTSW	4	140,523,004 (GRCm39)	missense	probably benign	0.00
R9339:Padi3	UTSW	4	140,522,928 (GRCm39)	missense	probably benign	0.11
R9403:Padi3	UTSW	4	140,537,843 (GRCm39)	missense	probably benign
RF025:Padi3	UTSW	4	140,520,283 (GRCm39)	critical splice donor site	probably benign
RF032:Padi3	UTSW	4	140,520,283 (GRCm39)	critical splice donor site	probably benign
RF040:Padi3	UTSW	4	140,520,283 (GRCm39)	critical splice donor site	probably benign
RF043:Padi3	UTSW	4	140,520,283 (GRCm39)	critical splice donor site	probably benign
Z1176:Padi3	UTSW	4	140,525,434 (GRCm39)	missense	not run
Z1176:Padi3	UTSW	4	140,522,982 (GRCm39)	missense	possibly damaging	0.92
Z1177:Padi3	UTSW	4	140,525,434 (GRCm39)	missense	not run

Predicted Primers

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

Posted On

2017-07-14