Mutagenetix > Incidental Mutation

Incidental Mutation 'R2081:Padi3'

229469

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

040086-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2081 (G1)

Quality Score

219

Status

Not validated

Chromosome

Chromosomal Location

140512680-140537959 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 140526290 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 141 (L141Q)

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: L151Q

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

SMART Domains

Protein: ENSMUSP00000026377
Gene: ENSMUSG00000025328
AA Change: L151Q

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: L141Q

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

SMART Domains

Protein: ENSMUSP00000130721
Gene: ENSMUSG00000025328
AA Change: L141Q

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	A	G	11: 54,211,085 (GRCm39)	T28A	possibly damaging	Het
Actl11	G	A	9: 107,807,396 (GRCm39)	G573D	probably benign	Het
Adam39	T	A	8: 41,279,879 (GRCm39)	*757K	probably null	Het
Agpat4	T	C	17: 12,370,771 (GRCm39)	I38T	possibly damaging	Het
Ap3d1	A	C	10: 80,568,770 (GRCm39)	I36S	probably damaging	Het
Arhgap45	T	C	10: 79,863,508 (GRCm39)	F784L	probably damaging	Het
Atg5lrt	T	C	10: 95,972,601 (GRCm39)	I46T	possibly damaging	Het
Atp10b	T	A	11: 43,092,955 (GRCm39)	I430N	probably damaging	Het
Atrip	T	A	9: 108,901,807 (GRCm39)		probably null	Het
C2cd4b	G	T	9: 67,667,859 (GRCm39)	R285L	probably damaging	Het
Camta1	T	C	4: 151,228,699 (GRCm39)	E711G	probably benign	Het
Clcn6	T	C	4: 148,095,525 (GRCm39)	Y685C	probably damaging	Het
Col18a1	T	A	10: 76,890,019 (GRCm39)	D1447V	probably damaging	Het
Crispld1	T	A	1: 17,832,403 (GRCm39)	V463D	probably damaging	Het
Crybg2	T	G	4: 133,816,131 (GRCm39)	F1612V	possibly damaging	Het
Dclk1	T	C	3: 55,429,346 (GRCm39)		probably null	Het
Ddx46	G	T	13: 55,821,829 (GRCm39)	V834L	probably benign	Het
Dnah10	A	G	5: 124,852,045 (GRCm39)	D1734G	possibly damaging	Het
Dpep1	T	C	8: 123,926,117 (GRCm39)	V152A	probably damaging	Het
Ect2l	T	C	10: 18,041,275 (GRCm39)	E301G	probably damaging	Het
Elf3	C	T	1: 135,184,814 (GRCm39)	C124Y	probably benign	Het
Eno2	A	G	6: 124,740,088 (GRCm39)	V316A	probably damaging	Het
Erap1	A	G	13: 74,823,426 (GRCm39)	E820G	possibly damaging	Het
Evpl	A	T	11: 116,125,092 (GRCm39)	H123Q	probably damaging	Het
Fat2	T	A	11: 55,200,503 (GRCm39)	Y857F	possibly damaging	Het
Fbrsl1	T	A	5: 110,519,491 (GRCm39)		probably null	Het
Fbxw7	A	G	3: 84,881,820 (GRCm39)	D432G	probably damaging	Het
Flt1	A	T	5: 147,576,232 (GRCm39)	L592Q	probably damaging	Het
Gm14496	T	A	2: 181,642,272 (GRCm39)	C648S	probably damaging	Het
Gm5150	A	T	3: 16,045,109 (GRCm39)	S39T	probably benign	Het
Gse1	C	A	8: 121,293,219 (GRCm39)	P177Q	probably damaging	Het
Heatr4	G	A	12: 84,027,096 (GRCm39)	R54W	probably damaging	Het
Hpgd	C	A	8: 56,760,677 (GRCm39)	Q125K	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Mast2	A	T	4: 116,187,671 (GRCm39)		probably null	Het
Mfsd11	A	G	11: 116,752,381 (GRCm39)	T177A	possibly damaging	Het
Mlx	T	C	11: 100,978,257 (GRCm39)	S36P	probably benign	Het
Mlxipl	T	A	5: 135,142,492 (GRCm39)	V102D	probably damaging	Het
Mms22l	T	C	4: 24,536,150 (GRCm39)	Y540H	probably damaging	Het
Msc	T	C	1: 14,825,941 (GRCm39)	D11G	probably benign	Het
Muc4	C	G	16: 32,574,020 (GRCm39)	S699R	probably benign	Het
Nckap1l	T	C	15: 103,405,881 (GRCm39)	S1106P	probably damaging	Het
Obscn	T	C	11: 58,925,008 (GRCm39)	E5703G	possibly damaging	Het
Or2ag1	A	G	7: 106,313,405 (GRCm39)	M161T	probably benign	Het
Pabpn1	A	G	14: 55,133,115 (GRCm39)	K38E	probably damaging	Het
Pakap	G	A	4: 57,855,927 (GRCm39)	E419K	possibly damaging	Het
Pde3b	A	G	7: 114,122,657 (GRCm39)	N742D	probably benign	Het
Pex1	T	A	5: 3,674,132 (GRCm39)		probably null	Het
Pkd2	T	C	5: 104,608,077 (GRCm39)	V192A	probably benign	Het
Ppp6r2	T	A	15: 89,166,332 (GRCm39)	M750K	probably benign	Het
Prdm15	A	T	16: 97,604,980 (GRCm39)	Y783*	probably null	Het
Prox2	T	A	12: 85,141,782 (GRCm39)	Q140H	probably damaging	Het
Psg27	A	T	7: 18,290,883 (GRCm39)	I440K	probably damaging	Het
Pzp	A	G	6: 128,496,383 (GRCm39)	M283T	probably benign	Het
Sec23a	G	A	12: 59,045,067 (GRCm39)	Q192*	probably null	Het
Sh2b1	A	G	7: 126,071,862 (GRCm39)	S108P	possibly damaging	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Tkfc	G	A	19: 10,574,742 (GRCm39)	A166V	probably damaging	Het
Tomm70a	T	C	16: 56,961,121 (GRCm39)	V358A	probably damaging	Het
Trim47	A	G	11: 115,997,239 (GRCm39)	F505S	probably damaging	Het
Tti2	T	C	8: 31,641,337 (GRCm39)	F154L	possibly damaging	Het
Ubap2l	C	T	3: 89,946,271 (GRCm39)	G111D	possibly damaging	Het
Usp9y	A	T	Y: 1,381,277 (GRCm39)	I848N	possibly damaging	Het
Veph1	T	C	3: 65,968,523 (GRCm39)	Y740C	probably damaging	Het
Vmn2r114	T	A	17: 23,510,083 (GRCm39)	H799L	possibly damaging	Het
Wdr31	T	A	4: 62,374,180 (GRCm39)	M270L	probably benign	Het
Zfp26	A	G	9: 20,347,913 (GRCm39)	S884P	probably benign	Het
Zswim6	T	A	13: 107,909,930 (GRCm39)		noncoding transcript	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
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
R6084:Padi3	UTSW	4	140,523,154 (GRCm39)	missense	probably damaging	1.00
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'- AGCTGGGCTCTGAGGAATAC -3'
(R):5'- TCTTGTACAGAGGTTCCTTCAGTG -3'

Sequencing Primer
(F):5'- CTGAGGAATACCATGATAAACTCTGC -3'
(R):5'- TCAGTGAAGGTGGATTCCTCCC -3'

Posted On

2014-09-17