Mutagenetix > Incidental Mutation

Incidental Mutation 'R5604:Padi6'

439170

Institutional Source

Beutler Lab

Gene Symbol

Padi6

Ensembl Gene

ENSMUSG00000040935

Gene Name

peptidyl arginine deiminase, type VI

Synonyms

ePAD, Padi5, Pad6

MMRRC Submission

043156-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5604 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

140454666-140469954 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 140458473 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 473 (M473K)

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: M473K

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000044044
Gene: ENSMUSG00000040935
AA Change: M473K

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	A	T	16: 88,556,278 (GRCm39)	N164I	possibly damaging	Het
4933402J07Rik	C	A	8: 88,295,125 (GRCm39)	R88S	possibly damaging	Het
Abca1	A	T	4: 53,067,168 (GRCm39)		probably null	Het
Abca13	T	A	11: 9,516,279 (GRCm39)	I4406K	probably damaging	Het
Adam6b	T	A	12: 113,454,420 (GRCm39)	Y412*	probably null	Het
Ahcyl2	C	T	6: 29,908,366 (GRCm39)	H370Y	probably damaging	Het
Ahi1	A	G	10: 20,862,904 (GRCm39)	Y693C	probably damaging	Het
Anapc4	T	A	5: 52,999,076 (GRCm39)	Y129*	probably null	Het
Ankrd35	A	G	3: 96,592,215 (GRCm39)	T834A	probably benign	Het
Antxr2	T	C	5: 98,096,169 (GRCm39)	K372E	probably damaging	Het
Arhgef1	C	T	7: 24,612,210 (GRCm39)	H198Y	probably benign	Het
Barhl2	T	C	5: 106,603,412 (GRCm39)	E249G	probably benign	Het
C2cd5	T	C	6: 142,957,747 (GRCm39)	E987G	probably benign	Het
C87436	T	C	6: 86,424,337 (GRCm39)	S290P	probably benign	Het
Ccser1	C	T	6: 61,290,788 (GRCm39)	T490M	probably damaging	Het
Cd8b1	T	C	6: 71,303,159 (GRCm39)	V78A	probably benign	Het
Cdc25c	A	G	18: 34,866,701 (GRCm39)	Y374H	probably damaging	Het
Cmya5	C	T	13: 93,229,271 (GRCm39)	R1939H	probably benign	Het
Cyp2d40	A	G	15: 82,648,256 (GRCm39)	F19S	probably damaging	Het
Dll3	A	G	7: 27,994,057 (GRCm39)	V460A	probably benign	Het
Dnajb12	GC	G	10: 59,728,574 (GRCm39)		probably null	Het
E4f1	A	G	17: 24,663,118 (GRCm39)	I729T	probably damaging	Het
Endou	A	C	15: 97,618,800 (GRCm39)	S75A	probably benign	Het
Epas1	C	T	17: 87,113,200 (GRCm39)	H129Y	probably damaging	Het
Grm1	T	A	10: 10,622,479 (GRCm39)	N415Y	probably damaging	Het
Hdc	A	T	2: 126,436,583 (GRCm39)	S429R	probably benign	Het
Hnf4g	C	T	3: 3,722,186 (GRCm39)	Q447*	probably null	Het
Htr6	C	T	4: 138,788,814 (GRCm39)	A414T	probably benign	Het
Insig1	T	C	5: 28,280,080 (GRCm39)	L224P	probably damaging	Het
Ipo9	G	A	1: 135,329,983 (GRCm39)	L486F	probably damaging	Het
Irak2	T	A	6: 113,667,792 (GRCm39)	S458T	possibly damaging	Het
Irs2	A	G	8: 11,055,007 (GRCm39)	S1142P	possibly damaging	Het
Kirrel1	T	A	3: 86,996,462 (GRCm39)	N379I	possibly damaging	Het
L3mbtl4	T	A	17: 69,084,917 (GRCm39)	D609E	probably benign	Het
Lama3	A	G	18: 12,572,405 (GRCm39)	T537A	probably benign	Het
Lce1i	A	T	3: 92,685,056 (GRCm39)	V40E	unknown	Het
Mprip	T	A	11: 59,649,293 (GRCm39)	V999D	probably benign	Het
Myd88	G	T	9: 119,168,829 (GRCm39)	T85K	possibly damaging	Het
Or1e35	T	A	11: 73,797,853 (GRCm39)	H155L	probably benign	Het
Pcdh12	T	A	18: 38,401,935 (GRCm39)	S97C	probably damaging	Het
Pkd1l1	T	A	11: 8,783,877 (GRCm39)	D2026V	probably damaging	Het
Plcxd1	T	C	5: 110,250,451 (GRCm39)	V264A	probably benign	Het
Plekha4	T	C	7: 45,198,580 (GRCm39)	S558P	probably damaging	Het
Ppm1a	T	A	12: 72,837,455 (GRCm39)	M334K	probably benign	Het
Ppp1r13l	T	C	7: 19,109,524 (GRCm39)	S684P	possibly damaging	Het
Prdm4	TCTCCTCCT	TCTCCT	10: 85,728,987 (GRCm39)		probably null	Het
Prl2a1	T	C	13: 27,990,369 (GRCm39)		probably benign	Het
Ptch1	T	C	13: 63,672,936 (GRCm39)	K753E	probably benign	Het
Qrich1	A	G	9: 108,436,502 (GRCm39)		probably benign	Het
Ror2	G	A	13: 53,271,201 (GRCm39)	R373C	probably benign	Het
Rtn4	C	A	11: 29,658,140 (GRCm39)	L765I	probably damaging	Het
Sema3a	T	C	5: 13,523,487 (GRCm39)		probably null	Het
Setd2	T	A	9: 110,433,284 (GRCm39)	D62E	probably damaging	Het
Ss18	A	T	18: 14,769,577 (GRCm39)	Y327N	unknown	Het
Ticam1	G	A	17: 56,578,756 (GRCm39)	T113I	probably benign	Het
Tnrc6a	A	G	7: 122,773,459 (GRCm39)	I1134V	probably damaging	Het
Top3b	T	G	16: 16,707,399 (GRCm39)	Y526*	probably null	Het
Tph2	T	C	10: 114,926,614 (GRCm39)	E384G	probably damaging	Het
Ttll11	A	T	2: 35,707,798 (GRCm39)	I503N	probably benign	Het
Zfp87	T	G	13: 67,665,945 (GRCm39)	K172N	probably 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
R5382:Padi6	UTSW	4	140,458,521 (GRCm39)	missense	probably damaging	1.00
R5408:Padi6	UTSW	4	140,454,996 (GRCm39)	missense	probably damaging	1.00
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'- CAATGTCTTCAAACAGGGTCAC -3'
(R):5'- CTCAGTTGTCAGTGCGCAAG -3'

Sequencing Primer
(F):5'- ACAGGGTCACGTTCCCATAG -3'
(R):5'- GCCACAGCATCTCAAAGGCG -3'

Posted On

2016-10-26