Mutagenetix > Incidental Mutation

Incidental Mutation 'R7872:Padi6'

608170

Institutional Source

Beutler Lab

Gene Symbol

Padi6

Ensembl Gene

ENSMUSG00000040935

Gene Name

peptidyl arginine deiminase, type VI

Synonyms

Padi5, Pad6, ePAD

MMRRC Submission

045924-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7872 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

140727355-140742643 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 140727762 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 621 (F621L)

Ref Sequence

ENSEMBL: ENSMUSP00000044044 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038749] [ENSMUST00000038893] [ENSMUST00000071169]

AlphaFold

Q8K3V4

Predicted Effect

probably damaging
Transcript: ENSMUST00000038749
AA Change: F621L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000044044
Gene: ENSMUSG00000040935
AA Change: F621L

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: ENSMUST00000038893

SMART Domains

Protein: ENSMUSP00000038144
Gene: ENSMUSG00000040945

Domain	Start	End	E-Value	Type
low complexity region	19	39	N/A	INTRINSIC
low complexity region	41	50	N/A	INTRINSIC
low complexity region	65	87	N/A	INTRINSIC
Pfam:RCC1_2	148	179	6.5e-8	PFAM
Pfam:RCC1	166	215	2.7e-18	PFAM
Pfam:RCC1_2	202	231	5.4e-10	PFAM
Pfam:RCC1	218	267	8.5e-14	PFAM
Pfam:RCC1	270	343	2.9e-13	PFAM
Pfam:RCC1_2	330	359	6.2e-9	PFAM
Pfam:RCC1	347	397	1.1e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000071169

SMART Domains

Protein: ENSMUSP00000071163
Gene: ENSMUSG00000040945

Domain	Start	End	E-Value	Type
low complexity region	19	39	N/A	INTRINSIC
low complexity region	41	50	N/A	INTRINSIC
low complexity region	65	87	N/A	INTRINSIC
Pfam:RCC1_2	148	179	6.1e-8	PFAM
Pfam:RCC1	166	215	4.1e-19	PFAM
Pfam:RCC1_2	202	231	5.1e-10	PFAM
Pfam:RCC1	218	267	1.6e-12	PFAM
Pfam:RCC1	270	343	7.5e-13	PFAM
Pfam:RCC1_2	330	359	1.3e-8	PFAM
Pfam:RCC1	347	397	2.7e-12	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
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. 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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta2	C	T	19: 34,243,439	D290N	probably damaging	Het
Adam18	T	C	8: 24,611,100	D682G	probably benign	Het
Ankrd46	A	G	15: 36,485,843	V88A	possibly damaging	Het
Ankub1	T	A	3: 57,665,386	K305I	probably damaging	Het
Atrn	T	A	2: 130,970,227		probably null	Het
Bambi	A	T	18: 3,511,406	T76S	probably benign	Het
Cacna1a	T	A	8: 84,583,654	V1447E	probably damaging	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 96,099,982		probably benign	Het
Clcn2	A	G	16: 20,708,460	M629T	probably damaging	Het
Clcn4	T	C	7: 7,287,781	N673S	probably benign	Het
Col20a1	T	C	2: 180,986,578	F15S	probably benign	Het
Col2a1	G	A	15: 98,000,577	Q39*	probably null	Het
Creb3	A	G	4: 43,563,332	E119G	probably benign	Het
Dnah5	A	C	15: 28,245,684	D556A	probably damaging	Het
Edar	C	T	10: 58,610,526	M192I	possibly damaging	Het
Fam91a1	A	G	15: 58,448,360	M634V	probably benign	Het
Fbxo10	C	T	4: 45,051,699	V471I	not run	Het
Fer1l5	T	C	1: 36,421,886	F2032L	probably benign	Het
Gm5150	A	C	3: 16,006,321	M1R	probably null	Het
Grin1	T	C	2: 25,298,190	E509G	probably benign	Het
Igkv10-94	C	T	6: 68,704,929		probably benign	Het
Il18bp	A	G	7: 102,016,795	Y59H	possibly damaging	Het
Ints8	A	T	4: 11,254,062	C17S	probably benign	Het
Kcnmb1	T	C	11: 33,966,275	Y74H	probably damaging	Het
Kpna1	T	C	16: 36,023,195	V313A	probably benign	Het
Lrp4	C	T	2: 91,490,716	T1029I	possibly damaging	Het
Lrrc7	A	T	3: 158,353,462	C3S	probably damaging	Het
Lyst	C	A	13: 13,635,865	H707N	probably benign	Het
Map3k20	A	G	2: 72,371,754	K148R	probably damaging	Het
Mcidas	G	A	13: 112,998,987	G315S	probably damaging	Het
Miip	C	T	4: 147,862,918	G236S	probably benign	Het
Mocs1	T	A	17: 49,439,533	I177N	probably damaging	Het
Muc5b	A	G	7: 141,846,113	D441G	unknown	Het
Ncoa1	T	C	12: 4,278,186	N884S	probably benign	Het
Olfr33	A	G	7: 102,714,182	V77A	probably benign	Het
Olfr533	A	G	7: 140,466,783	N194S	probably damaging	Het
Pde8b	C	A	13: 95,086,839	M197I	possibly damaging	Het
Pear1	T	A	3: 87,752,215	I771L	probably benign	Het
Poli	A	G	18: 70,522,820	L281P	probably damaging	Het
Prdm12	T	C	2: 31,640,219	W41R	probably damaging	Het
Prkdc	T	G	16: 15,715,006	S1500A	probably benign	Het
Prune2	T	A	19: 17,119,434	H767Q	probably benign	Het
Rasgef1b	G	A	5: 99,234,544	Q196*	probably null	Het
Rnpc3	A	T	3: 113,622,447	L121*	probably null	Het
Rpp14	A	G	14: 8,083,724	M1V	probably null	Het
Ryr2	T	A	13: 11,595,724	D4072V	probably damaging	Het
Sgms1	T	C	19: 32,125,365	H314R	probably damaging	Het
Six4	CT	C	12: 73,104,239		probably benign	Het
Slc37a3	A	T	6: 39,347,310	Y335N	probably damaging	Het
Tcp11l1	A	T	2: 104,706,492	H9Q	probably benign	Het
Tnrc6a	T	A	7: 123,179,834	M1256K	probably damaging	Het
Trpc6	A	G	9: 8,609,909	N126S	probably damaging	Het
Ubr4	T	C	4: 139,393,062	F266S	possibly damaging	Het
Uimc1	A	G	13: 55,069,737	V424A	possibly damaging	Het
Utrn	T	C	10: 12,698,129	I1066V	probably benign	Het
Vmn1r204	A	G	13: 22,556,234	T12A	probably benign	Het
Vmn1r57	T	A	7: 5,220,614	I46N	possibly damaging	Het
Vmn1r91	T	C	7: 20,101,914	Y253H	probably benign	Het
Vmn2r14	T	A	5: 109,221,353	H118L	probably benign	Het
Zcchc11	T	G	4: 108,517,518	C933G	probably damaging	Het
Zfp775	A	G	6: 48,620,470	K426R	probably benign	Het

Other mutations in Padi6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00778:Padi6	APN	4	140,727,623 (GRCm38)	missense	possibly damaging	0.56
IGL01013:Padi6	APN	4	140,729,003 (GRCm38)	missense	probably damaging	0.98
IGL01068:Padi6	APN	4	140,730,953 (GRCm38)	missense	possibly damaging	0.70
IGL01945:Padi6	APN	4	140,741,924 (GRCm38)	missense	probably benign	0.24
streetwise	UTSW	4	140,741,558 (GRCm38)	nonsense	probably null
R0097:Padi6	UTSW	4	140,730,957 (GRCm38)	missense	probably benign	0.09
R0097:Padi6	UTSW	4	140,730,957 (GRCm38)	missense	probably benign	0.09
R0135:Padi6	UTSW	4	140,737,352 (GRCm38)	missense	probably benign	0.04
R0437:Padi6	UTSW	4	140,728,929 (GRCm38)	missense	probably benign	0.01
R1581:Padi6	UTSW	4	140,735,836 (GRCm38)	missense	probably damaging	1.00
R2024:Padi6	UTSW	4	140,728,968 (GRCm38)	missense	possibly damaging	0.78
R3150:Padi6	UTSW	4	140,735,389 (GRCm38)	missense	probably damaging	1.00
R3176:Padi6	UTSW	4	140,735,389 (GRCm38)	missense	probably damaging	1.00
R3177:Padi6	UTSW	4	140,735,389 (GRCm38)	missense	probably damaging	1.00
R3276:Padi6	UTSW	4	140,735,389 (GRCm38)	missense	probably damaging	1.00
R3277:Padi6	UTSW	4	140,735,389 (GRCm38)	missense	probably damaging	1.00
R4168:Padi6	UTSW	4	140,741,934 (GRCm38)	missense	probably damaging	0.99
R4727:Padi6	UTSW	4	140,731,195 (GRCm38)	missense	probably damaging	1.00
R5063:Padi6	UTSW	4	140,741,880 (GRCm38)	missense	probably benign	0.01
R5382:Padi6	UTSW	4	140,731,210 (GRCm38)	missense	probably damaging	1.00
R5408:Padi6	UTSW	4	140,727,685 (GRCm38)	missense	probably damaging	1.00
R5604:Padi6	UTSW	4	140,731,162 (GRCm38)	missense	probably damaging	0.96
R5790:Padi6	UTSW	4	140,732,258 (GRCm38)	missense	probably damaging	1.00
R7084:Padi6	UTSW	4	140,741,558 (GRCm38)	nonsense	probably null
R7533:Padi6	UTSW	4	140,731,195 (GRCm38)	missense	probably damaging	1.00
R7581:Padi6	UTSW	4	140,728,929 (GRCm38)	missense	probably benign	0.01
R7662:Padi6	UTSW	4	140,728,995 (GRCm38)	missense	probably benign	0.00
R7766:Padi6	UTSW	4	140,730,975 (GRCm38)	missense	probably benign	0.02
R8333:Padi6	UTSW	4	140,737,376 (GRCm38)	missense	probably damaging	1.00
R8347:Padi6	UTSW	4	140,735,408 (GRCm38)	missense	probably benign	0.00
R8550:Padi6	UTSW	4	140,732,703 (GRCm38)	missense	probably benign	0.15
R8979:Padi6	UTSW	4	140,739,163 (GRCm38)	missense	probably benign	0.03
R9628:Padi6	UTSW	4	140,737,315 (GRCm38)	missense	probably damaging	1.00
RF007:Padi6	UTSW	4	140,729,743 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTTTATGGGGTCATCTTCCAC -3'
(R):5'- TGATGCCTACATAGACACAGGC -3'

Sequencing Primer
(F):5'- TCTTCCACCACTTGAATGCAAATG -3'
(R):5'- TAGACACAGGCTTTAGCAGTC -3'

Posted On

2019-12-20