Mutagenetix > Incidental Mutation

Incidental Mutation 'R8887:Padi3'

677388

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

068752-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8887 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140512680-140537959 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 140523795 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 228 (C228*)

Ref Sequence

ENSEMBL: ENSMUSP00000026377 (fasta)

Gene Model

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

AlphaFold

Q9Z184

Predicted Effect

probably null
Transcript: ENSMUST00000026377
AA Change: C228*

SMART Domains

Protein: ENSMUSP00000026377
Gene: ENSMUSG00000025328
AA Change: C228*

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 null
Transcript: ENSMUST00000172098
AA Change: C218*

SMART Domains

Protein: ENSMUSP00000130721
Gene: ENSMUSG00000025328
AA Change: C218*

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

98% (93/95)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg2	T	C	17: 57,175,285 (GRCm39)	T76A	probably benign	Het
Actn1	A	G	12: 80,215,197 (GRCm39)	C860R	probably damaging	Het
Adam23	T	A	1: 63,554,744 (GRCm39)	L170Q	probably damaging	Het
Afdn	C	T	17: 14,116,401 (GRCm39)	R1620*	probably null	Het
Agfg1	A	G	1: 82,848,525 (GRCm39)		probably benign	Het
Aire	A	G	10: 77,870,298 (GRCm39)	S476P	probably damaging	Het
Arhgef26	A	G	3: 62,247,401 (GRCm39)	T162A	probably benign	Het
Atp1a2	T	C	1: 172,113,222 (GRCm39)	Q487R	probably null	Het
BC048507	T	A	13: 68,011,628 (GRCm39)	C2S	probably benign	Het
Bltp1	G	T	3: 37,087,503 (GRCm39)	A615S	possibly damaging	Het
Bnc2	A	C	4: 84,209,707 (GRCm39)		probably benign	Het
Bop1	C	T	15: 76,338,524 (GRCm39)	G473R	probably damaging	Het
C1galt1	A	G	6: 7,866,379 (GRCm39)	E75G	probably benign	Het
Cacna1i	T	C	15: 80,258,894 (GRCm39)	V1201A	possibly damaging	Het
Cecr2	C	A	6: 120,715,162 (GRCm39)	T249K	probably damaging	Het
Clca3a2	C	A	3: 144,790,810 (GRCm39)	G421*	probably null	Het
Clec1b	A	T	6: 129,378,703 (GRCm39)		probably null	Het
Cnksr3	C	T	10: 7,104,467 (GRCm39)	D79N	probably damaging	Het
Col15a1	A	G	4: 47,287,091 (GRCm39)	Q843R	probably damaging	Het
Col6a3	T	C	1: 90,755,948 (GRCm39)	S114G	probably benign	Het
Corin	A	T	5: 72,486,953 (GRCm39)		probably null	Het
Cyp2u1	A	G	3: 131,096,503 (GRCm39)	Y92H	probably damaging	Het
Dcbld2	T	C	16: 58,229,270 (GRCm39)	L51P	probably damaging	Het
Dip2c	T	A	13: 9,673,989 (GRCm39)		probably benign	Het
Dlc1	A	T	8: 37,051,481 (GRCm39)	V299E	probably benign	Het
Dlgap2	G	A	8: 14,229,682 (GRCm39)		probably null	Het
Dnah1	A	G	14: 31,032,997 (GRCm39)	L346P	probably damaging	Het
Dnah9	T	C	11: 65,746,210 (GRCm39)	T3968A	probably benign	Het
Duox2	A	C	2: 122,120,044 (GRCm39)	M822R	probably null	Het
E2f7	A	T	10: 110,610,674 (GRCm39)	Q433L	probably benign	Het
Eif3k	A	C	7: 28,679,901 (GRCm39)	Y42*	probably null	Het
Elmod3	A	G	6: 72,563,494 (GRCm39)	S45P	probably damaging	Het
Emilin3	C	A	2: 160,751,108 (GRCm39)	V214F	possibly damaging	Het
Fbxo10	A	T	4: 45,058,887 (GRCm39)	F283L	probably benign	Het
Fbxw7	T	C	3: 84,876,549 (GRCm39)	Y358H		Het
G430095P16Rik	A	G	8: 85,453,043 (GRCm39)	N10S	unknown	Het
Gldc	A	G	19: 30,111,156 (GRCm39)	V540A	possibly damaging	Het
Gm3667	T	A	14: 18,271,553 (GRCm39)	E67D	probably benign	Het
Golga3	T	A	5: 110,353,626 (GRCm39)		probably benign	Het
H60c	T	C	10: 3,217,255 (GRCm39)	E38G	probably benign	Het
Hectd4	A	G	5: 121,433,541 (GRCm39)	D952G	probably benign	Het
Hoxb8	T	A	11: 96,175,223 (GRCm39)	L220Q	probably damaging	Het
Ice1	A	T	13: 70,751,050 (GRCm39)	L1679M	probably damaging	Het
Ifi202b	T	A	1: 173,802,480 (GRCm39)	Y118F	probably damaging	Het
Ift122	A	T	6: 115,868,880 (GRCm39)	T456S	probably benign	Het
Ighg3	G	A	12: 113,323,845 (GRCm39)	T181I		Het
Ighv1-66	C	A	12: 115,557,032 (GRCm39)	V17F	probably damaging	Het
Ighv5-12-4	A	G	12: 113,726,130 (GRCm39)	V31A	possibly damaging	Het
Ints12	T	A	3: 132,815,003 (GRCm39)	N403K	probably damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kalrn	A	C	16: 34,047,496 (GRCm39)	N908K	probably benign	Het
Kctd9	G	A	14: 67,962,016 (GRCm39)	V20I	unknown	Het
Krt78	G	T	15: 101,861,746 (GRCm39)	L167M	probably damaging	Het
Ldb1	T	C	19: 46,023,294 (GRCm39)	E206G	probably damaging	Het
Lig1	A	G	7: 13,030,713 (GRCm39)	Y455C	probably damaging	Het
Ltbp1	T	G	17: 75,486,077 (GRCm39)	I34S	probably damaging	Het
Map2	T	C	1: 66,454,758 (GRCm39)	I1216T	possibly damaging	Het
Mex3c	T	C	18: 73,706,800 (GRCm39)	V229A	probably damaging	Het
Mfsd11	T	C	11: 116,745,526 (GRCm39)		probably null	Het
Mroh1	A	G	15: 76,331,474 (GRCm39)	T1233A	probably benign	Het
Myct1	C	T	10: 5,554,208 (GRCm39)	T25I	probably damaging	Het
Nipbl	A	T	15: 8,391,271 (GRCm39)	H234Q	probably damaging	Het
Npc1l1	G	A	11: 6,175,665 (GRCm39)	P549S	probably damaging	Het
Or12d2	A	T	17: 37,624,642 (GRCm39)	L211Q	probably damaging	Het
Or4c3	A	G	2: 89,852,269 (GRCm39)	V47A	probably benign	Het
Or5h22	A	T	16: 58,894,846 (GRCm39)	V199D	possibly damaging	Het
Or5w22	A	G	2: 87,363,187 (GRCm39)	D270G	possibly damaging	Het
Or6c3b	A	T	10: 129,527,372 (GRCm39)	Y179*	probably null	Het
Palld	T	A	8: 61,986,512 (GRCm39)	D1015V	unknown	Het
Pcna-ps2	A	T	19: 9,261,488 (GRCm39)	Y249F	probably benign	Het
Pelo	C	T	13: 115,225,451 (GRCm39)	C258Y	probably benign	Het
Ppp1r13b	A	T	12: 111,803,430 (GRCm39)		probably benign	Het
Pramel26	A	G	4: 143,539,257 (GRCm39)	F79L	probably damaging	Het
Prdm2	A	G	4: 142,860,771 (GRCm39)	W840R	probably damaging	Het
Prkcg	A	G	7: 3,370,857 (GRCm39)	D428G	possibly damaging	Het
Pus7	G	A	5: 23,948,476 (GRCm39)	R571*	probably null	Het
Rab11fip3	A	G	17: 26,286,927 (GRCm39)	C409R	possibly damaging	Het
Rdh13	T	C	7: 4,434,522 (GRCm39)	D186G	probably damaging	Het
Rslcan18	T	A	13: 67,246,793 (GRCm39)	H273L	probably damaging	Het
Rxfp1	T	A	3: 79,559,289 (GRCm39)		probably benign	Het
Sh3bp1	T	A	15: 78,788,540 (GRCm39)		probably null	Het
Siglecg	T	A	7: 43,058,008 (GRCm39)	S9T	probably benign	Het
Slc9a1	T	C	4: 133,139,258 (GRCm39)	F159L	probably benign	Het
Slc9a2	A	G	1: 40,758,009 (GRCm39)	I183V	probably benign	Het
St6galnac4	A	G	2: 32,484,110 (GRCm39)	M103V	probably damaging	Het
Tbc1d30	T	C	10: 121,187,059 (GRCm39)	D42G	possibly damaging	Het
Tlr5	C	A	1: 182,801,332 (GRCm39)	T212K	probably benign	Het
Trim43b	T	G	9: 88,969,642 (GRCm39)	I269L	probably benign	Het
Ttll6	T	C	11: 96,047,492 (GRCm39)	L697P	possibly damaging	Het
Ttn	T	G	2: 76,549,239 (GRCm39)	T31813P	probably damaging	Het
Ttn	A	T	2: 76,571,932 (GRCm39)	D26320E	probably damaging	Het
Uba6	A	G	5: 86,307,061 (GRCm39)		probably null	Het
Usp1	C	G	4: 98,819,185 (GRCm39)	Q216E	probably benign	Het
Vcan	T	C	13: 89,853,026 (GRCm39)	T645A	probably benign	Het
Wdr64	C	A	1: 175,599,850 (GRCm39)	P559H	probably benign	Het
Zfat	T	C	15: 68,056,315 (GRCm39)	Y247C	probably damaging	Het
Zfp979	A	T	4: 147,698,219 (GRCm39)	N163K	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
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
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'- ATCTGTCAAGAATGGGCCATTTG -3'
(R):5'- TCCTGTAGGTGGGTAGAAGC -3'

Sequencing Primer
(F):5'- CAAGAATGGGCCATTTGTCCCATG -3'
(R):5'- GCAATGAGCTGGGCTGG -3'

Posted On

2021-08-02