Mutagenetix > Incidental Mutation

Incidental Mutation 'R9628:Padi6'

725266

Institutional Source

Beutler Lab

Gene Symbol

Padi6

Ensembl Gene

ENSMUSG00000040935

Gene Name

peptidyl arginine deiminase, type VI

Synonyms

ePAD, Padi5, Pad6

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9628 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

140454666-140469954 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 140464626 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 201 (T201I)

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: T201I

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

SMART Domains

Protein: ENSMUSP00000044044
Gene: ENSMUSG00000040935
AA Change: T201I

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 damaging
Transcript: ENSMUST00000130267
AA Change: T126I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123490
Gene: ENSMUSG00000040935
AA Change: T126I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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
Adgrg7	T	C	16: 56,553,193 (GRCm39)	N635D	probably damaging	Het
Ankrd13c	G	C	3: 157,653,313 (GRCm39)	K50N	probably benign	Het
Arhgef38	T	C	3: 132,838,025 (GRCm39)	Y635C	unknown	Het
Avl9	T	A	6: 56,713,460 (GRCm39)	Y239*	probably null	Het
C2cd3	T	A	7: 100,097,961 (GRCm39)	H1449Q		Het
Ccdc141	G	A	2: 76,844,838 (GRCm39)	P1410S	probably damaging	Het
Ccz1	G	A	5: 143,925,043 (GRCm39)	T471M	possibly damaging	Het
Cdh26	T	C	2: 178,083,213 (GRCm39)	S27P		Het
Cdk11b	T	G	4: 155,734,154 (GRCm39)	D756E	unknown	Het
Celsr3	C	A	9: 108,703,559 (GRCm39)	S14*	probably null	Het
Cntrob	T	C	11: 69,213,782 (GRCm39)	T3A	possibly damaging	Het
Cracd	A	G	5: 77,004,923 (GRCm39)	E428G	unknown	Het
Csde1	T	C	3: 102,962,825 (GRCm39)	V738A	probably benign	Het
Dazap1	T	C	10: 80,118,999 (GRCm39)	Y230H	unknown	Het
Dip2a	A	G	10: 76,142,993 (GRCm39)	I264T	probably damaging	Het
Dleu7	C	A	14: 62,530,144 (GRCm39)	A86S	possibly damaging	Het
Dnmbp	T	A	19: 43,858,646 (GRCm39)	D132V	probably damaging	Het
Dppa4	T	C	16: 48,111,672 (GRCm39)	V219A	probably benign	Het
Dsg1c	T	A	18: 20,397,373 (GRCm39)	I27N	probably damaging	Het
Egr4	T	C	6: 85,489,292 (GRCm39)	Y256C	probably benign	Het
Ess2	A	T	16: 17,720,757 (GRCm39)	M363K	probably damaging	Het
Fam124a	A	G	14: 62,825,010 (GRCm39)	E168G	probably damaging	Het
Gata4	T	C	14: 63,478,545 (GRCm39)	Y18C	probably damaging	Het
Gckr	C	A	5: 31,457,934 (GRCm39)	A147D	probably damaging	Het
H1f8	G	A	6: 115,924,700 (GRCm39)	V69I	probably damaging	Het
Hook1	T	C	4: 95,901,560 (GRCm39)	L506P	probably damaging	Het
Hormad2	G	A	11: 4,377,372 (GRCm39)	P22L	probably damaging	Het
Larp1b	T	C	3: 40,916,103 (GRCm39)		probably null	Het
Ldhb	T	C	6: 142,439,862 (GRCm39)	E226G	probably damaging	Het
Lpar5	T	G	6: 125,058,948 (GRCm39)	V223G	probably damaging	Het
Lrrc37a	A	G	11: 103,394,330 (GRCm39)	V365A	probably benign	Het
Lrrtm3	T	C	10: 63,923,776 (GRCm39)	K464E	probably damaging	Het
Ly75	A	G	2: 60,158,285 (GRCm39)	I1000T	probably damaging	Het
Myo1d	C	A	11: 80,448,296 (GRCm39)	G943V	possibly damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nphp4	T	C	4: 152,568,966 (GRCm39)	L35P	probably damaging	Het
Nptx2	G	A	5: 144,490,261 (GRCm39)	R230H	probably benign	Het
Ntsr1	G	A	2: 180,183,274 (GRCm39)	R328H	probably damaging	Het
Or1e25	G	A	11: 73,493,864 (GRCm39)	V153I	probably benign	Het
Or4c111	A	G	2: 88,843,670 (GRCm39)	V246A	probably damaging	Het
Or8b1	T	G	9: 38,399,871 (GRCm39)	L182R	probably benign	Het
Plscr4	C	T	9: 92,354,985 (GRCm39)	T13I	possibly damaging	Het
Ppp6r1	G	A	7: 4,636,112 (GRCm39)	A782V	probably benign	Het
Rab18	G	A	18: 6,788,647 (GRCm39)	V205M	probably benign	Het
Rhobtb1	T	C	10: 69,106,653 (GRCm39)	V468A	probably damaging	Het
Rhox8	GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	X: 36,966,991 (GRCm39)		probably benign	Het
Scaf11	A	T	15: 96,317,398 (GRCm39)	I722N	probably benign	Het
Slc17a4	A	G	13: 24,089,512 (GRCm39)	V135A	possibly damaging	Het
Slc30a5	A	G	13: 100,961,422 (GRCm39)		probably null	Het
Slc5a6	T	C	5: 31,197,746 (GRCm39)	Y321C	probably benign	Het
Spag7	A	T	11: 70,555,186 (GRCm39)	D178E	probably benign	Het
Swsap1	T	G	9: 21,867,172 (GRCm39)	S39A		Het
Tank	A	G	2: 61,483,876 (GRCm39)	T441A	probably benign	Het
Tor1aip1	C	A	1: 155,893,320 (GRCm39)	G276*	probably null	Het
Usp47	G	A	7: 111,705,999 (GRCm39)	M1220I	probably benign	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn2r35	A	G	7: 7,815,702 (GRCm39)	V489A	probably benign	Het
Wif1	T	C	10: 120,932,549 (GRCm39)	V309A	possibly damaging	Het
Xpo4	T	C	14: 57,842,630 (GRCm39)	N434D	probably damaging	Het
Zfp462	A	T	4: 55,009,423 (GRCm39)	H463L	probably benign	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
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
RF007:Padi6	UTSW	4	140,457,054 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCGTGTATAAACCTACTCTCGGG -3'
(R):5'- TATACCTATCATCCCAGCCTGG -3'

Sequencing Primer
(F):5'- TAAACCTACTCTCGGGTCAAGGTG -3'
(R):5'- GGCAACCAGGACTCCATAC -3'

Posted On

2022-09-12