Mutagenetix > Incidental Mutation

Incidental Mutation 'R7403:Padi3'

574334

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

045485-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7403 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

140512680-140537959 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140527430 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 124 (N124D)

Ref Sequence

ENSEMBL: ENSMUSP00000026377 (fasta)

Gene Model

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

AlphaFold

Q9Z184

Predicted Effect

probably benign
Transcript: ENSMUST00000026377
AA Change: N124D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000026377
Gene: ENSMUSG00000025328
AA Change: N124D

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 benign
Transcript: ENSMUST00000172098
AA Change: N114D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000130721
Gene: ENSMUSG00000025328
AA Change: N114D

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: 99.7%
20x: 99.0%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Appl2	G	A	10: 83,450,059 (GRCm39)	A271V	probably benign	Het
Brpf3	C	T	17: 29,040,330 (GRCm39)	T917I	probably benign	Het
Camta1	G	A	4: 151,537,752 (GRCm39)	Q143*	probably null	Het
Cd3e	C	A	9: 44,913,590 (GRCm39)	E48D	probably benign	Het
Clca3b	A	G	3: 144,529,259 (GRCm39)	L805P	probably benign	Het
Crispld1	A	G	1: 17,817,820 (GRCm39)	Y241C	probably damaging	Het
Ddx43	T	G	9: 78,321,133 (GRCm39)	N380K	probably damaging	Het
Dtl	A	T	1: 191,295,285 (GRCm39)	V155E	probably damaging	Het
Eif1ad19	G	T	12: 87,740,314 (GRCm39)	Q82K	probably benign	Het
Elp1	A	T	4: 56,778,994 (GRCm39)	C608S	probably damaging	Het
Elp2	A	G	18: 24,752,542 (GRCm39)	H365R	probably damaging	Het
Fam78a	T	C	2: 31,959,627 (GRCm39)	N161S	probably damaging	Het
Far2	T	C	6: 148,060,475 (GRCm39)	I276T	possibly damaging	Het
Frem3	T	C	8: 81,342,774 (GRCm39)	L1689P	probably damaging	Het
Gak	T	C	5: 108,761,401 (GRCm39)	K210R	probably benign	Het
Gna14	G	T	19: 16,576,445 (GRCm39)	D151Y		Het
Hdhd2	A	G	18: 77,042,736 (GRCm39)	D55G	probably benign	Het
Hycc2	A	T	1: 58,587,861 (GRCm39)	D117E	possibly damaging	Het
Ifna5	A	G	4: 88,754,110 (GRCm39)	N117D	probably benign	Het
Il16	T	A	7: 83,319,343 (GRCm39)	T383S	probably damaging	Het
Il36rn	T	C	2: 24,171,214 (GRCm39)	F101L	probably damaging	Het
Ino80d	A	G	1: 63,101,378 (GRCm39)	V416A	possibly damaging	Het
Ints6	T	C	14: 62,945,104 (GRCm39)	R409G	possibly damaging	Het
Itgb5	G	T	16: 33,723,163 (GRCm39)		probably null	Het
Itprid1	T	A	6: 55,953,399 (GRCm39)	L905*	probably null	Het
Kcnq3	T	A	15: 65,874,066 (GRCm39)	R561W	probably damaging	Het
Lipo4	C	T	19: 33,480,679 (GRCm39)	E230K	possibly damaging	Het
Lrrc7	A	T	3: 157,854,311 (GRCm39)	L1299*	probably null	Het
Mcm3ap	T	C	10: 76,318,657 (GRCm39)		probably null	Het
Mok	A	T	12: 110,781,563 (GRCm39)		probably null	Het
Mylk2	T	A	2: 152,759,261 (GRCm39)	V344E	probably damaging	Het
Oacyl	T	C	18: 65,870,966 (GRCm39)	V389A	probably benign	Het
Oplah	T	C	15: 76,189,209 (GRCm39)	D278G	probably benign	Het
Or1j8	T	C	2: 36,192,342 (GRCm39)	F264L	probably benign	Het
Or8s5	T	C	15: 98,238,000 (GRCm39)	Y290C	probably damaging	Het
Parp3	T	C	9: 106,352,052 (GRCm39)	S107G	probably benign	Het
Pcdhb18	G	A	18: 37,624,950 (GRCm39)	G760D	probably benign	Het
Plekhh1	G	A	12: 79,087,351 (GRCm39)	W13*	probably null	Het
Poglut3	T	A	9: 53,301,741 (GRCm39)	V131E	probably damaging	Het
Pou2f1	C	T	1: 165,738,955 (GRCm39)	A166T	unknown	Het
Ppp1r10	C	T	17: 36,240,326 (GRCm39)	P539S	probably benign	Het
Prdm11	T	C	2: 92,817,036 (GRCm39)	T310A	probably benign	Het
Rbm25	A	G	12: 83,722,908 (GRCm39)	Y777C	probably damaging	Het
Relt	A	T	7: 100,500,655 (GRCm39)	C72S	probably damaging	Het
Rhag	T	A	17: 41,145,549 (GRCm39)	I334N	probably damaging	Het
Rhbdf2	A	C	11: 116,491,245 (GRCm39)	L630R	probably damaging	Het
Rnps1	T	C	17: 24,644,061 (GRCm39)	S274P	unknown	Het
Rtkn2	A	G	10: 67,841,466 (GRCm39)	I205V	probably benign	Het
Ryr1	A	T	7: 28,713,292 (GRCm39)	V4690E	probably benign	Het
Secisbp2l	T	C	2: 125,602,199 (GRCm39)	Y387C	possibly damaging	Het
Sema3d	A	T	5: 12,547,551 (GRCm39)	I158F	probably damaging	Het
Slc17a1	A	G	13: 24,058,690 (GRCm39)	N48S	probably benign	Het
Slc2a1	G	A	4: 118,989,752 (GRCm39)	G130S	probably damaging	Het
Slc6a3	T	C	13: 73,710,546 (GRCm39)		probably null	Het
Snx27	A	T	3: 94,436,233 (GRCm39)	S261T	probably damaging	Het
Spag17	A	T	3: 99,846,691 (GRCm39)	I72F	possibly damaging	Het
Spink6	T	G	18: 44,204,564 (GRCm39)	L10R	unknown	Het
Swt1	G	A	1: 151,264,444 (GRCm39)	T690I	probably benign	Het
Syne2	G	A	12: 75,962,020 (GRCm39)	E729K	not run	Het
Synj2	C	T	17: 6,088,005 (GRCm39)	T1352M	possibly damaging	Het
Taar4	G	A	10: 23,836,957 (GRCm39)	G189D	probably damaging	Het
Thsd4	T	C	9: 59,964,170 (GRCm39)	N441D	probably damaging	Het
Tm9sf2	A	G	14: 122,378,640 (GRCm39)	D248G	probably benign	Het
Tmem69	A	T	4: 116,410,664 (GRCm39)	L102Q	probably damaging	Het
Tshr	A	G	12: 91,464,548 (GRCm39)	Y98C	probably damaging	Het
Tspan1	A	G	4: 116,020,219 (GRCm39)	V230A	probably benign	Het
Upk3a	T	C	15: 84,903,709 (GRCm39)	V136A	possibly damaging	Het
Ush2a	T	A	1: 188,365,924 (GRCm39)	N2259K	probably damaging	Het
Usp24	A	G	4: 106,264,232 (GRCm39)	D1721G	possibly damaging	Het
Vldlr	T	A	19: 27,213,674 (GRCm39)	C120*	probably null	Het
Vmn2r23	A	T	6: 123,681,538 (GRCm39)	I149L	probably benign	Het
Vps8	A	T	16: 21,253,722 (GRCm39)	E21V	possibly damaging	Het
Wdr35	A	G	12: 9,062,685 (GRCm39)	I635V	probably damaging	Het
Zfp955a	T	C	17: 33,462,720 (GRCm39)	D58G	probably benign	Het
Zkscan5	A	G	5: 145,155,403 (GRCm39)	Q358R	probably benign	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
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'- GTTTGATGATGACGACCCCAGC -3'
(R):5'- GTGGCCATCAAGGAAAGCTTC -3'

Sequencing Primer
(F):5'- TGACGACCCCAGCCATGC -3'
(R):5'- GAAAGCTTCCTACTGGGACC -3'

Posted On

2019-09-13