Mutagenetix > Incidental Mutation

Incidental Mutation 'R6151:Padi3'

489242

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

044298-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6151 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

140512680-140537959 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 140523705 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 248 (D248E)

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: D258E

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

SMART Domains

Protein: ENSMUSP00000026377
Gene: ENSMUSG00000025328
AA Change: D258E

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: D248E

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

SMART Domains

Protein: ENSMUSP00000130721
Gene: ENSMUSG00000025328
AA Change: D248E

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: 98.1%
20x: 94.4%

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	A	G	1: 120,099,216 (GRCm39)		probably null	Het
4930550C14Rik	G	T	9: 53,325,683 (GRCm39)	R73S	probably damaging	Het
Abca1	A	G	4: 53,085,261 (GRCm39)	V517A	probably benign	Het
Adck5	A	T	15: 76,478,887 (GRCm39)	K370N	possibly damaging	Het
Akap6	A	C	12: 53,072,575 (GRCm39)	D981A	probably damaging	Het
Apbb1	G	A	7: 105,223,459 (GRCm39)	R51*	probably null	Het
Arhgap23	A	G	11: 97,391,238 (GRCm39)	M1252V	probably benign	Het
Arhgef1	A	G	7: 24,617,367 (GRCm39)	T354A	probably benign	Het
Arid1a	G	T	4: 133,412,287 (GRCm39)	Q1636K	unknown	Het
Asmt	C	T	X: 169,110,202 (GRCm39)	A237V	possibly damaging	Het
Brat1	T	A	5: 140,691,716 (GRCm39)	C43S	probably benign	Het
Cd36	T	C	5: 18,000,593 (GRCm39)	Y370C	probably damaging	Het
Ceacam12	A	T	7: 17,803,030 (GRCm39)	L145F	probably benign	Het
Col24a1	C	T	3: 145,019,815 (GRCm39)	T62I	probably damaging	Het
Col6a3	G	T	1: 90,741,475 (GRCm39)	N652K	possibly damaging	Het
Dcbld1	T	C	10: 52,180,756 (GRCm39)	L140P	probably damaging	Het
Dhrs13	G	A	11: 77,927,808 (GRCm39)	C218Y	probably damaging	Het
Diaph1	T	G	18: 37,986,406 (GRCm39)	E1158A	probably damaging	Het
Emp2	A	C	16: 10,110,145 (GRCm39)	F20C	probably damaging	Het
Enpep	T	C	3: 129,126,067 (GRCm39)	I22V	possibly damaging	Het
Epha2	A	G	4: 141,045,791 (GRCm39)		probably null	Het
Eprs1	G	T	1: 185,139,951 (GRCm39)		probably null	Het
Etl4	T	A	2: 20,718,171 (GRCm39)	I304N	probably damaging	Het
Exoc3l2	C	A	7: 19,225,670 (GRCm39)	S89*	probably null	Het
F5	A	T	1: 164,009,204 (GRCm39)	I325F	probably damaging	Het
F5	G	A	1: 164,017,756 (GRCm39)	C611Y	probably damaging	Het
Fam133b	A	T	5: 3,609,133 (GRCm39)	S116C	probably null	Het
Fam13b	A	T	18: 34,627,330 (GRCm39)	D190E	probably damaging	Het
Fam169a	T	G	13: 97,230,138 (GRCm39)	Y58D	probably damaging	Het
Far1	G	A	7: 113,160,603 (GRCm39)	R383H	possibly damaging	Het
Fnbp1l	T	C	3: 122,364,579 (GRCm39)	K52R	possibly damaging	Het
Foxj3	C	A	4: 119,480,468 (GRCm39)	Q469K	unknown	Het
Frs3	A	T	17: 48,000,013 (GRCm39)		probably benign	Het
Gdpd3	A	G	7: 126,374,674 (GRCm39)	S290G	probably benign	Het
Gmip	T	A	8: 70,269,735 (GRCm39)	L610Q	probably damaging	Het
Gprc5c	T	A	11: 114,754,851 (GRCm39)	I176N	probably damaging	Het
Grm3	A	G	5: 9,561,556 (GRCm39)	F765L	probably damaging	Het
Hhat	A	T	1: 192,442,065 (GRCm39)	L2Q	probably damaging	Het
Hspbap1	T	C	16: 35,637,592 (GRCm39)	S214P	probably damaging	Het
Ighv1-62-3	C	A	12: 115,424,909 (GRCm39)	V21F	probably damaging	Het
Kcnj15	A	T	16: 95,096,527 (GRCm39)	K50*	probably null	Het
Kidins220	T	C	12: 25,106,908 (GRCm39)	S1454P	possibly damaging	Het
Kl	T	A	5: 150,912,318 (GRCm39)	M689K	possibly damaging	Het
Klhl23	T	G	2: 69,655,198 (GRCm39)	L356R	probably damaging	Het
Kndc1	A	T	7: 139,501,129 (GRCm39)	D806V	probably benign	Het
Krt26	T	C	11: 99,228,315 (GRCm39)	E139G	probably benign	Het
Lefty1	T	C	1: 180,762,681 (GRCm39)	F3L	unknown	Het
Madd	A	C	2: 90,995,802 (GRCm39)	Y853*	probably null	Het
Map1a	T	A	2: 121,120,304 (GRCm39)	D63E	probably benign	Het
Mdn1	T	A	4: 32,684,735 (GRCm39)	V815E	probably damaging	Het
Mettl3	A	G	14: 52,532,477 (GRCm39)	Y569H	probably damaging	Het
Mknk2	T	C	10: 80,504,859 (GRCm39)		probably null	Het
Mpp3	C	A	11: 101,899,392 (GRCm39)	R376S	probably benign	Het
Ncoa4-ps	T	G	12: 119,224,841 (GRCm39)		noncoding transcript	Het
Nup160	T	A	2: 90,520,449 (GRCm39)	Y293*	probably null	Het
Nup58	A	T	14: 60,482,065 (GRCm39)	F100I	possibly damaging	Het
Nxpe2	A	C	9: 48,237,491 (GRCm39)	L255V	probably benign	Het
Or10ab4	A	G	7: 107,655,106 (GRCm39)	I306V	probably benign	Het
Or1e30	T	A	11: 73,678,521 (GRCm39)	Y252*	probably null	Het
Or2l5	A	T	16: 19,334,281 (GRCm39)	L35Q	probably damaging	Het
Or4d11	T	C	19: 12,014,100 (GRCm39)	E2G	probably benign	Het
Paxip1	G	T	5: 27,966,616 (GRCm39)	H637N	probably damaging	Het
Pde4b	T	A	4: 102,458,748 (GRCm39)	M296K	probably damaging	Het
Pkd1	A	G	17: 24,794,580 (GRCm39)	H2089R	probably benign	Het
Plaat5	C	T	19: 7,596,656 (GRCm39)	P148S	probably damaging	Het
Prpf40a	T	C	2: 53,047,927 (GRCm39)	M197V	probably benign	Het
Rhebl1	T	C	15: 98,776,160 (GRCm39)	I165V	probably benign	Het
Rock1	A	T	18: 10,106,426 (GRCm39)	V481E	possibly damaging	Het
Rtca	T	A	3: 116,301,476 (GRCm39)	T24S	probably benign	Het
Serpina3c	T	A	12: 104,118,327 (GRCm39)	I4F	possibly damaging	Het
Serpina3j	C	A	12: 104,283,649 (GRCm39)	A249E	possibly damaging	Het
Slc38a9	A	G	13: 112,825,910 (GRCm39)	N116S	probably damaging	Het
Slco2b1	C	T	7: 99,339,770 (GRCm39)	V58I	possibly damaging	Het
Slfn8	T	A	11: 82,908,147 (GRCm39)	Y132F	probably damaging	Het
Smg6	T	G	11: 75,047,033 (GRCm39)	I1242S	probably damaging	Het
Tap2	G	T	17: 34,431,021 (GRCm39)	V374L	probably benign	Het
Tbc1d10b	G	A	7: 126,807,168 (GRCm39)	T123M	probably damaging	Het
Tenm2	A	C	11: 35,899,610 (GRCm39)	V2516G	probably damaging	Het
Tenm3	C	T	8: 48,848,608 (GRCm39)	R12Q	probably damaging	Het
Tmem130	T	A	5: 144,674,661 (GRCm39)	M355L	probably benign	Het
Tns4	C	T	11: 98,966,376 (GRCm39)	S433N	probably benign	Het
Traip	G	T	9: 107,847,818 (GRCm39)		probably null	Het
Trmo	G	A	4: 46,389,390 (GRCm39)	R2C	probably damaging	Het
Ttn	A	T	2: 76,774,504 (GRCm39)	I2134N	probably damaging	Het
Uba1y	A	G	Y: 825,984 (GRCm39)	D380G	probably benign	Het
Ube2t	T	A	1: 134,895,698 (GRCm39)		probably null	Het
Ugdh	A	T	5: 65,574,924 (GRCm39)	Y367*	probably null	Het
Usp45	A	C	4: 21,810,797 (GRCm39)	D331A	probably damaging	Het
Vmn1r84	G	T	7: 12,095,841 (GRCm39)	T284K	possibly damaging	Het
Vmn1r91	T	A	7: 19,835,360 (GRCm39)	F93Y	probably benign	Het
Vmn2r77	T	A	7: 86,450,878 (GRCm39)	Y255N	probably benign	Het
Vmn2r96	A	T	17: 18,804,221 (GRCm39)	Q490H	probably benign	Het
Vwa2	A	G	19: 56,891,897 (GRCm39)		probably null	Het
Vwf	A	G	6: 125,634,028 (GRCm39)	K169E	unknown	Het
Zc3h7b	G	C	15: 81,662,911 (GRCm39)		probably null	Het
Zfp458	T	A	13: 67,405,662 (GRCm39)	H259L	possibly damaging	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het
Zfp804b	A	G	5: 6,819,910 (GRCm39)	V1051A	probably benign	Het
Zfp998	A	T	13: 66,579,740 (GRCm39)	C248S	probably damaging	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
R6084:Padi3	UTSW	4	140,523,154 (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'- CTAGGGTCCTCAAGAAATCCC -3'
(R):5'- TTCACGTTCTCTGAGCAGC -3'

Sequencing Primer
(F):5'- AGAAATCCCCTGGTTTGGAC -3'
(R):5'- TTCTCTGAGCAGCCCAAGAGTC -3'

Posted On

2017-10-10