Mutagenetix > Incidental Mutation

Incidental Mutation 'R5382:Padi6'

424778

Institutional Source

Beutler Lab

Gene Symbol

Padi6

Ensembl Gene

ENSMUSG00000040935

Gene Name

peptidyl arginine deiminase, type VI

Synonyms

ePAD, Padi5, Pad6

MMRRC Submission

042957-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5382 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

140454666-140469954 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 140458521 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 457 (V457E)

Ref Sequence

ENSEMBL: ENSMUSP00000044044 (fasta)

Gene Model

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

AlphaFold

Q8K3V4

Predicted Effect

probably damaging
Transcript: ENSMUST00000038749
AA Change: V457E

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

SMART Domains

Protein: ENSMUSP00000044044
Gene: ENSMUSG00000040935
AA Change: V457E

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

noncoding transcript
Transcript: ENSMUST00000125046

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

Meta Mutation Damage Score

0.1342

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (59/59)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	G	A	7: 28,314,844 (GRCm39)	P250S	possibly damaging	Het
Actn2	T	A	13: 12,323,837 (GRCm39)	M133L	probably benign	Het
Arhgap32	A	T	9: 32,063,306 (GRCm39)	K105M	probably damaging	Het
BC034090	A	G	1: 155,101,349 (GRCm39)	V305A	probably benign	Het
Brd1	G	A	15: 88,613,767 (GRCm39)	T376M	probably damaging	Het
Cbl	C	T	9: 44,070,318 (GRCm39)	A505T	probably benign	Het
Cga	G	T	4: 34,904,048 (GRCm39)	M14I	probably benign	Het
Ciao3	A	G	17: 25,995,894 (GRCm39)		probably benign	Het
Cluh	T	C	11: 74,555,935 (GRCm39)		probably benign	Het
Col14a1	A	T	15: 55,225,832 (GRCm39)	D165V	unknown	Het
Cp	T	C	3: 20,033,089 (GRCm39)	W639R	probably damaging	Het
Cyp7b1	T	A	3: 18,151,385 (GRCm39)	D276V	possibly damaging	Het
Dctd	C	T	8: 48,590,449 (GRCm39)		probably benign	Het
Ecpas	A	T	4: 58,850,934 (GRCm39)	M413K	probably benign	Het
Erc1	T	A	6: 119,738,233 (GRCm39)	M509L	probably benign	Het
Evi5l	A	G	8: 4,228,653 (GRCm39)		probably benign	Het
Exoc6	T	C	19: 37,587,127 (GRCm39)		probably null	Het
Gm38706	C	T	6: 130,460,744 (GRCm39)		noncoding transcript	Het
Gpr183	T	C	14: 122,192,333 (GRCm39)	T63A	possibly damaging	Het
Gpr63	T	A	4: 25,007,952 (GRCm39)	D225E	probably benign	Het
Grb14	T	A	2: 64,745,078 (GRCm39)	K93N	probably damaging	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Kif28	C	T	1: 179,527,847 (GRCm39)	G768D	probably damaging	Het
Krt79	A	T	15: 101,839,875 (GRCm39)	D373E	probably benign	Het
Mro	G	A	18: 74,009,893 (GRCm39)	S187N	probably benign	Het
Ms4a14	G	T	19: 11,280,421 (GRCm39)	D712E	possibly damaging	Het
Ndufaf1	T	C	2: 119,490,893 (GRCm39)	T56A	possibly damaging	Het
Nell2	A	T	15: 95,127,091 (GRCm39)	D761E	probably damaging	Het
Numb	A	G	12: 83,854,979 (GRCm39)	F116L	probably damaging	Het
Or3a1	T	A	11: 74,225,806 (GRCm39)	M84L	probably benign	Het
Or4c114	A	G	2: 88,905,079 (GRCm39)	Y119H	probably damaging	Het
Or5an11	A	T	19: 12,245,773 (GRCm39)	M60L	possibly damaging	Het
Or6c66	T	A	10: 129,461,876 (GRCm39)	D18V	probably damaging	Het
Or8k27	A	G	2: 86,275,660 (GRCm39)	L222P	probably damaging	Het
Or9g20	T	C	2: 85,630,492 (GRCm39)	N41D	probably damaging	Het
Otog	A	C	7: 45,898,428 (GRCm39)	N182T	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pex16	G	A	2: 92,207,875 (GRCm39)	R109H	possibly damaging	Het
Phactr1	T	C	13: 43,288,695 (GRCm39)		probably benign	Het
Phf20	G	A	2: 156,109,417 (GRCm39)	E255K	probably damaging	Het
Pim1	A	G	17: 29,710,457 (GRCm39)		probably benign	Het
Prr23a2	T	A	9: 98,739,229 (GRCm39)	Y196N	probably damaging	Het
Prune2	A	T	19: 16,981,023 (GRCm39)	N60I	probably damaging	Het
Ptprb	T	A	10: 116,189,776 (GRCm39)	Y1812N	probably damaging	Het
Rab11fip4	A	G	11: 79,581,541 (GRCm39)	Y512C	possibly damaging	Het
Resf1	G	T	6: 149,227,958 (GRCm39)	E335*	probably null	Het
Rft1	T	C	14: 30,388,739 (GRCm39)	V221A	probably benign	Het
Tacr2	T	C	10: 62,097,276 (GRCm39)	M252T	probably damaging	Het
Tgfbrap1	A	G	1: 43,115,025 (GRCm39)	I25T	probably benign	Het
Th	A	G	7: 142,449,177 (GRCm39)	F191S	probably damaging	Het
Trim3	C	A	7: 105,267,554 (GRCm39)	R275L	probably benign	Het
Trpm3	A	G	19: 22,862,705 (GRCm39)		probably null	Het
Wars1	A	T	12: 108,848,706 (GRCm39)	D80E	probably benign	Het
Wdr90	T	A	17: 26,064,572 (GRCm39)	Y1806F	probably damaging	Het
Zfp644	A	T	5: 106,782,735 (GRCm39)	I1182N	possibly damaging	Het

Other mutations in Padi6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00778:Padi6	APN	4	140,454,934 (GRCm39)	missense	possibly damaging	0.56
IGL01013:Padi6	APN	4	140,456,314 (GRCm39)	missense	probably damaging	0.98
IGL01068:Padi6	APN	4	140,458,264 (GRCm39)	missense	possibly damaging	0.70
IGL01945:Padi6	APN	4	140,469,235 (GRCm39)	missense	probably benign	0.24
streetwise	UTSW	4	140,468,869 (GRCm39)	nonsense	probably null
R0097:Padi6	UTSW	4	140,458,268 (GRCm39)	missense	probably benign	0.09
R0097:Padi6	UTSW	4	140,458,268 (GRCm39)	missense	probably benign	0.09
R0135:Padi6	UTSW	4	140,464,663 (GRCm39)	missense	probably benign	0.04
R0437:Padi6	UTSW	4	140,456,240 (GRCm39)	missense	probably benign	0.01
R1581:Padi6	UTSW	4	140,463,147 (GRCm39)	missense	probably damaging	1.00
R2024:Padi6	UTSW	4	140,456,279 (GRCm39)	missense	possibly damaging	0.78
R3150:Padi6	UTSW	4	140,462,700 (GRCm39)	missense	probably damaging	1.00
R3176:Padi6	UTSW	4	140,462,700 (GRCm39)	missense	probably damaging	1.00
R3177:Padi6	UTSW	4	140,462,700 (GRCm39)	missense	probably damaging	1.00
R3276:Padi6	UTSW	4	140,462,700 (GRCm39)	missense	probably damaging	1.00
R3277:Padi6	UTSW	4	140,462,700 (GRCm39)	missense	probably damaging	1.00
R4168:Padi6	UTSW	4	140,469,245 (GRCm39)	missense	probably damaging	0.99
R4727:Padi6	UTSW	4	140,458,506 (GRCm39)	missense	probably damaging	1.00
R5063:Padi6	UTSW	4	140,469,191 (GRCm39)	missense	probably benign	0.01
R5408:Padi6	UTSW	4	140,454,996 (GRCm39)	missense	probably damaging	1.00
R5604:Padi6	UTSW	4	140,458,473 (GRCm39)	missense	probably damaging	0.96
R5790:Padi6	UTSW	4	140,459,569 (GRCm39)	missense	probably damaging	1.00
R7084:Padi6	UTSW	4	140,468,869 (GRCm39)	nonsense	probably null
R7533:Padi6	UTSW	4	140,458,506 (GRCm39)	missense	probably damaging	1.00
R7581:Padi6	UTSW	4	140,456,240 (GRCm39)	missense	probably benign	0.01
R7662:Padi6	UTSW	4	140,456,306 (GRCm39)	missense	probably benign	0.00
R7766:Padi6	UTSW	4	140,458,286 (GRCm39)	missense	probably benign	0.02
R7872:Padi6	UTSW	4	140,455,073 (GRCm39)	missense	probably damaging	1.00
R8333:Padi6	UTSW	4	140,464,687 (GRCm39)	missense	probably damaging	1.00
R8347:Padi6	UTSW	4	140,462,719 (GRCm39)	missense	probably benign	0.00
R8550:Padi6	UTSW	4	140,460,014 (GRCm39)	missense	probably benign	0.15
R8979:Padi6	UTSW	4	140,466,474 (GRCm39)	missense	probably benign	0.03
R9628:Padi6	UTSW	4	140,464,626 (GRCm39)	missense	probably damaging	1.00
RF007:Padi6	UTSW	4	140,457,054 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAACAGGGTCACGTTCCCATAG -3'
(R):5'- ATTCGTTGGCAAGAGCAGTCC -3'

Sequencing Primer
(F):5'- GGGTCACGTTCCCATAGCCTTC -3'
(R):5'- AGAGCAGTCCAATGAAGTCC -3'

Posted On

2016-08-04