Mutagenetix > Incidental Mutations

Incidental Mutation 'R5063:Padi6'

386737

Institutional Source

Beutler Lab

Gene Symbol

Padi6

Ensembl Gene

ENSMUSG00000040935

Gene Name

peptidyl arginine deiminase, type VI

Synonyms

Padi5, Pad6, ePAD

MMRRC Submission

042653-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5063 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

140727355-140742643 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140741880 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 50 (I50V)

Ref Sequence

ENSEMBL: ENSMUSP00000044044 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026381] [ENSMUST00000038749] [ENSMUST00000130267]

AlphaFold

Q8K3V4

Predicted Effect

probably benign
Transcript: ENSMUST00000026381

SMART Domains

Protein: ENSMUSP00000026381
Gene: ENSMUSG00000025330

Domain	Start	End	E-Value	Type
Pfam:PAD_N	1	111	2.3e-38	PFAM
Pfam:PAD_M	113	273	2.4e-63	PFAM
Pfam:PAD	283	663	2.4e-176	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000038749
AA Change: I50V

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000044044
Gene: ENSMUSG00000040935
AA Change: I50V

Domain	Start	End	E-Value	Type
Pfam:PAD_N	1	112	5.6e-38	PFAM
Pfam:PAD_M	114	269	6e-53	PFAM
Pfam:PAD	280	679	4.7e-149	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130267

SMART Domains

Protein: ENSMUSP00000123490
Gene: ENSMUSG00000040935

Domain	Start	End	E-Value	Type
Pfam:PAD_M	39	191	1.1e-57	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

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. This protein may play a role in cytoskeletal reorganization in the egg and in early embryo development. [provided by RefSeq, Sep 2012]
PHENOTYPE: Mice homozygous for a null allele exhibit altered oocyte cytoplasmic structures that lead to a failure of zygotes to progress beyond the 2 cell stage and female infertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130011E15Rik	A	G	19: 45,885,955	I593T	possibly damaging	Het
Aatk	T	C	11: 120,010,489	H970R	probably benign	Het
Anapc1	T	C	2: 128,629,549	M1496V	possibly damaging	Het
Arhgef4	A	T	1: 34,724,215	T851S	probably benign	Het
Cacna1d	A	G	14: 30,051,383	S1782P	probably benign	Het
Capn13	T	A	17: 73,322,079	R578*	probably null	Het
Casp8	A	T	1: 58,844,374	H280L	probably damaging	Het
Cd274	G	T	19: 29,384,143	D284Y	probably damaging	Het
Cenpe	T	A	3: 135,270,954	C2441S	probably damaging	Het
Chn2	A	T	6: 54,290,287	K118*	probably null	Het
Chst12	G	T	5: 140,524,412	E265*	probably null	Het
Cp	C	A	3: 19,989,215	Q22K	probably benign	Het
Diaph3	A	T	14: 86,984,870	W404R	probably damaging	Het
Dnajb13	T	G	7: 100,510,823	E69A	probably damaging	Het
Dzip1l	A	G	9: 99,667,652	E725G	probably damaging	Het
Dzip3	T	A	16: 48,953,754	K373*	probably null	Het
Fmn1	C	T	2: 113,364,921	T322I	unknown	Het
Gbp9	T	C	5: 105,085,162	Y208C	probably benign	Het
Gtf2i	T	A	5: 134,260,571	K418N	probably damaging	Het
Herc3	C	T	6: 58,855,760	Q137*	probably null	Het
Igkv4-80	A	C	6: 69,016,665	S81A	probably benign	Het
Iqcm	A	T	8: 75,746,286	D251V	probably damaging	Het
Itpr3	A	T	17: 27,089,911	I363F	possibly damaging	Het
Khnyn	A	T	14: 55,887,203	K305*	probably null	Het
Klf17	A	G	4: 117,760,659	V167A	possibly damaging	Het
Letm2	T	C	8: 25,581,779	D369G	probably benign	Het
Lrrc31	A	G	3: 30,689,936	V141A	possibly damaging	Het
Msh5	A	T	17: 35,042,188		probably null	Het
Neb	G	A	2: 52,223,212		probably benign	Het
Olfr16	T	A	1: 172,957,442	S216T	possibly damaging	Het
Olfr720	A	T	14: 14,175,593	M163K	probably damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pcdhb22	G	T	18: 37,519,126	G216C	probably damaging	Het
Ppy	A	G	11: 102,100,699	Y5H	probably benign	Het
Psmc1	T	C	12: 100,115,475	L112S	probably damaging	Het
Ptov1	A	G	7: 44,865,602	I195T	possibly damaging	Het
Rassf10	C	A	7: 112,954,424	D77E	probably benign	Het
Slc25a45	T	C	19: 5,884,462	S153P	possibly damaging	Het
Slco1a5	G	A	6: 142,259,065	R126C	probably damaging	Het
Srebf2	T	C	15: 82,177,451	V366A	probably benign	Het
St6galnac5	T	C	3: 152,981,135	S61G	probably benign	Het
Sult6b1	A	T	17: 78,905,576	V82D	probably benign	Het
Tep1	A	T	14: 50,850,627	C818S	possibly damaging	Het
Tex15	T	G	8: 33,582,610	F2728L	possibly damaging	Het
Tm9sf2	T	A	14: 122,145,146	F190Y	probably damaging	Het
Tmem175	T	C	5: 108,646,432	L476P	probably damaging	Het
Tmprss11c	T	C	5: 86,237,830	K248R	probably benign	Het
Tnk2	T	A	16: 32,670,850	F316I	probably damaging	Het
Vmn2r75	T	A	7: 86,164,164	M477L	probably benign	Het
Vmn2r83	A	C	10: 79,479,087	I390L	probably benign	Het
Vmn2r88	A	G	14: 51,411,146	Y49C	probably damaging	Het
Zdhhc4	T	A	5: 143,316,622	I318F	probably damaging	Het
Zmat4	A	T	8: 23,748,441	D27V	probably damaging	Het

Other mutations in Padi6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00778:Padi6	APN	4	140727623	missense	possibly damaging	0.56
IGL01013:Padi6	APN	4	140729003	missense	probably damaging	0.98
IGL01068:Padi6	APN	4	140730953	missense	possibly damaging	0.70
IGL01945:Padi6	APN	4	140741924	missense	probably benign	0.24
streetwise	UTSW	4	140741558	nonsense	probably null
R0097:Padi6	UTSW	4	140730957	missense	probably benign	0.09
R0097:Padi6	UTSW	4	140730957	missense	probably benign	0.09
R0135:Padi6	UTSW	4	140737352	missense	probably benign	0.04
R0437:Padi6	UTSW	4	140728929	missense	probably benign	0.01
R1581:Padi6	UTSW	4	140735836	missense	probably damaging	1.00
R2024:Padi6	UTSW	4	140728968	missense	possibly damaging	0.78
R3150:Padi6	UTSW	4	140735389	missense	probably damaging	1.00
R3176:Padi6	UTSW	4	140735389	missense	probably damaging	1.00
R3177:Padi6	UTSW	4	140735389	missense	probably damaging	1.00
R3276:Padi6	UTSW	4	140735389	missense	probably damaging	1.00
R3277:Padi6	UTSW	4	140735389	missense	probably damaging	1.00
R4168:Padi6	UTSW	4	140741934	missense	probably damaging	0.99
R4727:Padi6	UTSW	4	140731195	missense	probably damaging	1.00
R5382:Padi6	UTSW	4	140731210	missense	probably damaging	1.00
R5408:Padi6	UTSW	4	140727685	missense	probably damaging	1.00
R5604:Padi6	UTSW	4	140731162	missense	probably damaging	0.96
R5790:Padi6	UTSW	4	140732258	missense	probably damaging	1.00
R7084:Padi6	UTSW	4	140741558	nonsense	probably null
R7533:Padi6	UTSW	4	140731195	missense	probably damaging	1.00
R7581:Padi6	UTSW	4	140728929	missense	probably benign	0.01
R7662:Padi6	UTSW	4	140728995	missense	probably benign	0.00
R7766:Padi6	UTSW	4	140730975	missense	probably benign	0.02
R7872:Padi6	UTSW	4	140727762	missense	probably damaging	1.00
R8333:Padi6	UTSW	4	140737376	missense	probably damaging	1.00
R8347:Padi6	UTSW	4	140735408	missense	probably benign	0.00
R8550:Padi6	UTSW	4	140732703	missense	probably benign	0.15
R8979:Padi6	UTSW	4	140739163	missense	probably benign	0.03
RF007:Padi6	UTSW	4	140729743	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCACATTGAGATCACCTGGG -3'
(R):5'- ATCCATCAAAGGCGTGGAG -3'

Sequencing Primer
(F):5'- GGTAGGTTAAAGGTTACCCCTCTC -3'
(R):5'- CTCCTTCAAACCAGGTGT -3'

Posted On

2016-06-06