Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01359:Ppp4r3a'

75667

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ppp4r3a

Ensembl Gene

ENSMUSG00000041846

Gene Name

protein phosphatase 4 regulatory subunit 3A

Synonyms

1110034C04Rik, Smek1

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.348) question?

Stock #

IGL01359

Quality Score

Status

Chromosome

Chromosomal Location

101039409-101083702 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101058496 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 248 (E248G)

Ref Sequence

ENSEMBL: ENSMUSP00000129654 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048305] [ENSMUST00000163095]

AlphaFold

Q6P2K6

Predicted Effect

probably damaging
Transcript: ENSMUST00000048305
AA Change: E248G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000041667
Gene: ENSMUSG00000041846
AA Change: E248G

Domain	Start	End	E-Value	Type
SCOP:d1k5db_	7	96	3e-24	SMART
Pfam:SMK-1	164	357	5.8e-85	PFAM
low complexity region	407	418	N/A	INTRINSIC
low complexity region	495	503	N/A	INTRINSIC
low complexity region	705	720	N/A	INTRINSIC
low complexity region	753	770	N/A	INTRINSIC
low complexity region	795	808	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000163095
AA Change: E248G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000129654
Gene: ENSMUSG00000041846
AA Change: E248G

Domain	Start	End	E-Value	Type
SCOP:d1k5db_	7	96	4e-24	SMART
Pfam:SMK-1	166	357	2.5e-84	PFAM
low complexity region	508	516	N/A	INTRINSIC
low complexity region	718	733	N/A	INTRINSIC
low complexity region	766	783	N/A	INTRINSIC
low complexity region	808	821	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223161

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf1	G	A	17: 43,310,686	E605K	probably damaging	Het
Adgrl4	G	A	3: 151,543,286	C737Y	probably damaging	Het
Ankk1	A	T	9: 49,416,028	I617N	possibly damaging	Het
B3gat2	T	C	1: 23,763,220	F196L	probably damaging	Het
Bcl2l14	T	A	6: 134,423,865	I83N	probably damaging	Het
Bcr	T	C	10: 75,159,779		probably benign	Het
Ckmt2	A	T	13: 91,861,820	I127N	probably damaging	Het
Dhx33	G	A	11: 70,993,861	Q40*	probably null	Het
Dnah11	T	C	12: 117,982,999	T3117A	probably damaging	Het
Dnaic2	A	G	11: 114,751,788	Y405C	probably benign	Het
Emc2	A	G	15: 43,511,749	Y214C	probably damaging	Het
Fbxw2	T	C	2: 34,822,750	T100A	probably benign	Het
Fkrp	C	T	7: 16,811,490	R149Q	probably benign	Het
Fsd1l	A	G	4: 53,659,601	R153G	possibly damaging	Het
Galnt4	T	C	10: 99,109,597	Y395H	probably damaging	Het
Gk5	T	C	9: 96,137,789	L126P	probably damaging	Het
Gm973	A	G	1: 59,630,279	S830G	probably benign	Het
Gpc5	G	A	14: 115,369,750	G255S	possibly damaging	Het
Grk3	C	A	5: 112,937,760	S370I	probably damaging	Het
Herc1	A	G	9: 66,439,268	D1972G	probably benign	Het
Itih3	T	A	14: 30,917,772	D364V	probably damaging	Het
Lce1f	G	T	3: 92,719,184	C55*	probably null	Het
Ltn1	A	C	16: 87,405,693		probably benign	Het
Lyl1	C	T	8: 84,702,686	A8V	possibly damaging	Het
Mdn1	A	G	4: 32,743,686	E3974G	probably benign	Het
Msl3l2	T	C	10: 56,116,244	V355A	probably damaging	Het
Nadsyn1	T	C	7: 143,821,230	I30V	possibly damaging	Het
Nuggc	T	C	14: 65,623,207	V418A	probably damaging	Het
Olfr1308	A	T	2: 111,961,061	M4K	probably benign	Het
Olfr553	A	T	7: 102,614,172	H272Q	probably benign	Het
Olfr671	T	C	7: 104,975,986		probably null	Het
Rab3gap2	T	A	1: 185,238,870	V234E	probably damaging	Het
Radil	G	A	5: 142,543,713	T105I	probably damaging	Het
Saa4	A	G	7: 46,731,636	W21R	possibly damaging	Het
Sec62	G	A	3: 30,814,306	S228N	unknown	Het
Setd4	C	T	16: 93,591,239	G120S	probably damaging	Het
Sgpl1	G	A	10: 61,100,908	T556I	probably benign	Het
Slc14a2	T	C	18: 78,154,108	D811G	probably benign	Het
Slc26a11	A	T	11: 119,363,431	M192L	probably benign	Het
Spon1	A	T	7: 114,034,290	Q656L	probably damaging	Het
Tex15	A	G	8: 33,581,898	D2491G	probably damaging	Het
Tox	T	C	4: 6,697,583	T407A	probably damaging	Het
Ubr5	A	T	15: 37,973,006	I2611N	probably damaging	Het
Usp25	G	A	16: 77,059,253	A245T	probably damaging	Het
Vwa8	C	A	14: 79,064,913	Y1007*	probably null	Het
Zfp423	T	C	8: 87,780,662	H893R	probably damaging	Het
Zfp507	A	G	7: 35,794,502	I372T	probably damaging	Het

Other mutations in Ppp4r3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00227:Ppp4r3a	APN	12	101049794	missense	probably damaging	1.00
IGL00532:Ppp4r3a	APN	12	101044653	missense	probably damaging	1.00
IGL01873:Ppp4r3a	APN	12	101041835	missense	possibly damaging	0.86
IGL02676:Ppp4r3a	APN	12	101042511	missense	probably benign	0.00
IGL02756:Ppp4r3a	APN	12	101058323	critical splice donor site	probably null
IGL03196:Ppp4r3a	APN	12	101049654	splice site	probably benign
IGL03206:Ppp4r3a	APN	12	101058619	missense	probably damaging	1.00
R1101:Ppp4r3a	UTSW	12	101051571	missense	probably damaging	0.98
R1434:Ppp4r3a	UTSW	12	101043524	missense	probably damaging	0.99
R1526:Ppp4r3a	UTSW	12	101040741	missense	probably damaging	0.99
R1554:Ppp4r3a	UTSW	12	101055822	missense	probably damaging	1.00
R1650:Ppp4r3a	UTSW	12	101044619	missense	probably damaging	0.99
R1766:Ppp4r3a	UTSW	12	101058482	missense	probably damaging	0.99
R2152:Ppp4r3a	UTSW	12	101042567	missense	probably damaging	0.99
R2322:Ppp4r3a	UTSW	12	101042619	missense	probably damaging	0.98
R2421:Ppp4r3a	UTSW	12	101042653	splice site	probably benign
R2422:Ppp4r3a	UTSW	12	101042653	splice site	probably benign
R2859:Ppp4r3a	UTSW	12	101042647	critical splice acceptor site	probably null
R2884:Ppp4r3a	UTSW	12	101068677	missense	probably damaging	0.99
R4157:Ppp4r3a	UTSW	12	101055619	missense	probably damaging	0.97
R4651:Ppp4r3a	UTSW	12	101082911	utr 5 prime	probably benign
R4652:Ppp4r3a	UTSW	12	101082911	utr 5 prime	probably benign
R4706:Ppp4r3a	UTSW	12	101041916	missense	probably damaging	1.00
R4773:Ppp4r3a	UTSW	12	101082767	missense	possibly damaging	0.93
R4775:Ppp4r3a	UTSW	12	101053566	missense	probably damaging	0.99
R5467:Ppp4r3a	UTSW	12	101043470	missense	probably damaging	0.99
R5634:Ppp4r3a	UTSW	12	101043521	missense	probably damaging	1.00
R5704:Ppp4r3a	UTSW	12	101083360	utr 5 prime	probably benign
R5707:Ppp4r3a	UTSW	12	101058511	missense	probably damaging	1.00
R5935:Ppp4r3a	UTSW	12	101051613	missense	probably damaging	1.00
R5969:Ppp4r3a	UTSW	12	101043579	missense	probably benign
R6030:Ppp4r3a	UTSW	12	101058400	missense	probably damaging	0.97
R6030:Ppp4r3a	UTSW	12	101058400	missense	probably damaging	0.97
R6630:Ppp4r3a	UTSW	12	101049776	missense	probably damaging	1.00
R7265:Ppp4r3a	UTSW	12	101053511	missense	possibly damaging	0.77
R7352:Ppp4r3a	UTSW	12	101041832	missense	probably damaging	1.00
R7402:Ppp4r3a	UTSW	12	101058794	missense	possibly damaging	0.94
R7761:Ppp4r3a	UTSW	12	101055821	missense	probably damaging	0.98
R7808:Ppp4r3a	UTSW	12	101053496	missense	possibly damaging	0.94
R7811:Ppp4r3a	UTSW	12	101053562	missense	probably damaging	0.98
R8062:Ppp4r3a	UTSW	12	101041971	missense	probably damaging	0.98
R8409:Ppp4r3a	UTSW	12	101042493	missense	probably benign	0.02
R8435:Ppp4r3a	UTSW	12	101082789	missense	probably benign	0.19
R8471:Ppp4r3a	UTSW	12	101055642	missense	probably benign	0.01
R9010:Ppp4r3a	UTSW	12	101058332	missense	possibly damaging	0.58
R9137:Ppp4r3a	UTSW	12	101055535	missense	possibly damaging	0.95
R9335:Ppp4r3a	UTSW	12	101040754	missense	probably damaging	1.00
R9336:Ppp4r3a	UTSW	12	101049660	missense	probably benign
R9666:Ppp4r3a	UTSW	12	101082870	start codon destroyed	probably null	0.39
R9752:Ppp4r3a	UTSW	12	101042504	missense	probably benign	0.01

Posted On

2013-10-07