Mutagenetix > Incidental Mutation

Incidental Mutation 'R5790:Padi6'

448253

Institutional Source

Beutler Lab

Gene Symbol

Padi6

Ensembl Gene

ENSMUSG00000040935

Gene Name

peptidyl arginine deiminase, type VI

Synonyms

Padi5, Pad6, ePAD

MMRRC Submission

043384-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5790 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

140727355-140742643 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 140732258 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 429 (G429C)

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: G429C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000044044
Gene: ENSMUSG00000040935
AA Change: G429C

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

99% (73/74)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl5	A	T	5: 30,894,358	R633*	probably null	Het
Ahnak	T	C	19: 9,015,248	V4632A	probably damaging	Het
Asap1	T	A	15: 64,094,265	D997V	probably damaging	Het
Atad2	T	C	15: 58,126,594	Y162C	probably damaging	Het
Atp2b2	G	T	6: 113,759,309	S936R	probably damaging	Het
Bcl11a	T	A	11: 24,163,650	L331Q	probably damaging	Het
C6	T	A	15: 4,763,486	F358I	probably damaging	Het
Capn15	C	T	17: 25,964,547	S386N	probably benign	Het
Ccdc66	G	A	14: 27,500,447	T113I	possibly damaging	Het
Cd200	G	T	16: 45,397,258	H23Q	possibly damaging	Het
Cdh17	A	G	4: 11,814,945		probably null	Het
Ces2b	C	T	8: 104,833,936	P128S	probably damaging	Het
Ces3b	A	T	8: 105,092,638	Q442L	probably damaging	Het
Chil4	T	C	3: 106,202,578	H373R	probably benign	Het
Ciapin1	C	A	8: 94,825,183		probably benign	Het
Cnot10	A	C	9: 114,625,917		probably null	Het
Cpq	A	G	15: 33,249,997	K167E	probably damaging	Het
Dennd4b	T	A	3: 90,277,450	D1118E	probably damaging	Het
Dnah8	T	A	17: 30,875,004	C4691S	probably damaging	Het
Dnajc1	A	G	2: 18,307,087		probably benign	Het
Dnhd1	G	A	7: 105,655,774	R341H	probably damaging	Het
Dock10	G	T	1: 80,505,170	T2145K	probably benign	Het
Eif3b	T	C	5: 140,442,131	V736A	probably benign	Het
Eno1	G	T	4: 150,245,253	V195L	probably benign	Het
Ewsr1	C	T	11: 5,082,263		probably benign	Het
Fbn2	T	C	18: 58,076,696	T1038A	probably benign	Het
Gabrb1	T	C	5: 72,136,484	I367T	possibly damaging	Het
Gigyf1	C	T	5: 137,524,255		probably benign	Het
Glp2r	T	A	11: 67,764,799	Y39F	probably damaging	Het
Gm10036	T	A	18: 15,833,186	Y131*	probably null	Het
Gm38706	T	C	6: 130,484,998		noncoding transcript	Het
Gna15	G	A	10: 81,509,384	R216C	probably damaging	Het
Grin3a	A	G	4: 49,792,717	F339L	probably damaging	Het
Grk3	T	G	5: 112,966,976	K126T	possibly damaging	Het
Hspa1l	T	C	17: 34,977,240	V85A	probably benign	Het
Iqsec1	A	T	6: 90,689,880	L525*	probably null	Het
Irx3	T	C	8: 91,799,676	T467A	probably benign	Het
Itga2	G	A	13: 114,868,206	T530I	probably benign	Het
Lonp2	T	C	8: 86,631,490	V113A	probably benign	Het
Msx3	C	T	7: 140,048,953	R16H	possibly damaging	Het
Nek3	C	A	8: 22,131,297	Q405H	probably damaging	Het
Nek3	T	A	8: 22,131,298	Q403L	probably damaging	Het
Olfr11	T	C	13: 21,638,876	T216A	probably benign	Het
Olfr798	A	G	10: 129,625,888	Y58H	probably damaging	Het
P4ha1	A	G	10: 59,354,362	N367S	probably benign	Het
Pidd1	T	C	7: 141,441,392		probably benign	Het
Plekhg5	T	C	4: 152,113,935	V847A	probably benign	Het
Polr3e	A	G	7: 120,927,967	D56G	probably damaging	Het
Pomt2	T	G	12: 87,127,378	N347T	probably damaging	Het
Ppp1r9a	T	C	6: 5,134,363		probably benign	Het
Rbm33	A	T	5: 28,339,298	D184V	probably damaging	Het
Rims2	A	T	15: 39,681,045	T1431S	probably damaging	Het
Saal1	T	C	7: 46,701,928	D208G	probably damaging	Het
Sis	T	C	3: 72,928,174	I952V	probably benign	Het
Slc30a1	T	A	1: 191,908,885	D214E	probably benign	Het
Slc30a8	T	C	15: 52,333,647	V318A	possibly damaging	Het
Smarca2	A	G	19: 26,676,724	T770A	probably damaging	Het
Sptbn4	T	A	7: 27,366,428	H2031L	probably damaging	Het
Ssbp1	A	G	6: 40,480,870	S141G	probably benign	Het
Tgm4	A	G	9: 123,061,743	E45G	probably damaging	Het
Thra	T	A	11: 98,762,951	S203T	probably benign	Het
Tle2	T	C	10: 81,590,315	Y763H	probably damaging	Het
Tmem141	T	A	2: 25,621,075	I102L	probably benign	Het
Tmem63c	C	T	12: 87,057,636	T77I	probably benign	Het
Tspo2	C	A	17: 48,449,019		probably null	Het
Ttc19	T	A	11: 62,281,514	M1K	probably null	Het
Ucp1	A	G	8: 83,297,891	N282D	possibly damaging	Het
Vmn1r33	A	T	6: 66,612,214	F119I	probably benign	Het
Vmn2r24	A	T	6: 123,815,540	M609L	probably benign	Het
Vwc2l	A	T	1: 70,750,983	H146L	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
R5063:Padi6	UTSW	4	140741880	missense	probably benign	0.01
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
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
R9628:Padi6	UTSW	4	140737315	missense	probably damaging	1.00
RF007:Padi6	UTSW	4	140729743	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTAAAAGCTGGGTCACCTG -3'
(R):5'- AGTGGTGTGATGGATCCTACATC -3'

Sequencing Primer
(F):5'- TGGGTCACCTGCCCTCTG -3'
(R):5'- AGCCCCTCCCAGGTAATG -3'

Posted On

2016-12-15