Mutagenetix > Incidental Mutations

Incidental Mutation 'R1458:Ppp2r3a'

161891

Institutional Source

Beutler Lab

Gene Symbol

Ppp2r3a

Ensembl Gene

ENSMUSG00000043154

Gene Name

protein phosphatase 2, regulatory subunit B'', alpha

Synonyms

MMRRC Submission

039513-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1458 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101105084-101251795 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101211312 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 604 (L604P)

Ref Sequence

ENSEMBL: ENSMUSP00000075327 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075941]

Predicted Effect

probably damaging
Transcript: ENSMUST00000075941
AA Change: L604P

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

SMART Domains

Protein: ENSMUSP00000075327
Gene: ENSMUSG00000043154
AA Change: L604P

Domain	Start	End	E-Value	Type
low complexity region	248	266	N/A	INTRINSIC
Blast:EFh	760	789	1e-9	BLAST
Pfam:EF-hand_7	902	1000	2.5e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191226

Meta Mutation Damage Score

0.2571

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.8%

Validation Efficiency

98% (95/97)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the regulatory subunits of the protein phosphatase 2. Protein phosphatase 2 (formerly named type 2A) is one of the four major Ser/Thr phosphatases and is implicated in the negative control of cell growth and division. Protein phosphatase 2 holoenzymes are heterotrimeric proteins composed of a structural subunit A, a catalytic subunit C, and a regulatory subunit B. The regulatory subunit is encoded by a diverse set of genes that have been grouped into the B/PR55, B'/PR61, and B''/PR72 families. These different regulatory subunits confer distinct enzymatic specificities and intracellular localizations to the holozenzyme. The product of this gene belongs to the B'' family. The B'' family has been further divided into subfamilies. The product of this gene belongs to the alpha subfamily of regulatory subunit B''. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Jun 2010]

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700036A12Rik	A	G	9: 60,769,761		noncoding transcript	Het
A430110L20Rik	T	A	1: 181,227,858		noncoding transcript	Het
Abce1	T	C	8: 79,707,235	K63R	possibly damaging	Het
Acp6	A	G	3: 97,173,788		probably benign	Het
Adamts13	T	A	2: 26,988,354	L579Q	probably damaging	Het
Adamtsl3	T	A	7: 82,523,320	M497K	probably damaging	Het
Adgrb2	T	A	4: 130,014,591	M1042K	possibly damaging	Het
Akap12	A	T	10: 4,353,693	S168C	probably damaging	Het
Akap3	A	T	6: 126,865,554	M379L	probably damaging	Het
Aldh6a1	C	T	12: 84,439,663	M135I	probably null	Het
Arhgef12	A	G	9: 42,988,998	S860P	probably damaging	Het
Atp11b	A	C	3: 35,789,558	T185P	probably damaging	Het
Bcas1	T	C	2: 170,387,951	D243G	probably damaging	Het
Cdhr2	T	A	13: 54,717,872	S228T	probably damaging	Het
Cic	T	C	7: 25,279,737		probably benign	Het
Cmya5	T	A	13: 93,065,327	I3376L	probably benign	Het
Ctrc	C	A	4: 141,846,224		probably null	Het
D230025D16Rik	T	C	8: 105,246,556		probably null	Het
Dchs1	G	T	7: 105,755,244	P2697Q	probably damaging	Het
Dmbt1	A	G	7: 131,044,487		probably benign	Het
Drd2	G	A	9: 49,402,212	R227H	probably damaging	Het
Dscc1	C	A	15: 55,086,764	C195F	probably damaging	Het
Dzip1	T	A	14: 118,922,713	M28L	probably benign	Het
Edar	A	T	10: 58,607,366	S313T	probably benign	Het
Eef1e1	C	A	13: 38,656,123	A69S	probably damaging	Het
Fbn1	A	G	2: 125,301,929	V2760A	probably benign	Het
Fez1	GACAAACA	GACA	9: 36,870,549		probably null	Het
Fgl1	C	G	8: 41,210,459	A11P	possibly damaging	Het
Fras1	T	C	5: 96,600,733	V689A	probably benign	Het
Fry	T	A	5: 150,380,859	D571E	probably damaging	Het
Gm11232	T	A	4: 71,757,213	R104*	probably null	Het
Gm1527	A	G	3: 28,918,050	I439V	possibly damaging	Het
Gm4922	C	A	10: 18,783,892	G361*	probably null	Het
Gm7052	T	A	17: 22,040,466		probably benign	Het
Gm7534	T	C	4: 134,196,833	D467G	probably benign	Het
Gpatch8	A	T	11: 102,481,229	S494R	unknown	Het
Gria2	A	T	3: 80,732,045	V220E	possibly damaging	Het
Grik4	G	A	9: 42,521,122	H860Y	probably benign	Het
Gtpbp1	A	C	15: 79,707,729	S93R	probably damaging	Het
Gucy2g	C	A	19: 55,215,036		probably benign	Het
Hist1h2ae	C	A	13: 23,571,047		probably benign	Het
Hmcn1	G	A	1: 150,609,700	R4384C	probably damaging	Het
Hspa12b	G	C	2: 131,145,192	A678P	probably damaging	Het
Igsf21	T	A	4: 140,028,124	N407Y	probably damaging	Het
Insig2	A	G	1: 121,307,156	Y174H	probably benign	Het
Itpr3	T	A	17: 27,118,372	M2413K	probably benign	Het
Kalrn	A	T	16: 34,174,487	I1322N	probably damaging	Het
Klk1b24	T	A	7: 44,191,466	M106K	possibly damaging	Het
Krt81	G	T	15: 101,460,317	Q352K	probably benign	Het
Lca5l	A	T	16: 96,159,859	S468T	possibly damaging	Het
Lvrn	T	C	18: 46,882,385		probably benign	Het
Mcpt1	T	A	14: 56,019,164		probably benign	Het
Med13l	T	C	5: 118,738,459	M900T	probably benign	Het
Med16	A	G	10: 79,907,478		probably benign	Het
Megf6	G	T	4: 154,177,121	V68L	probably benign	Het
Mep1a	T	C	17: 43,491,672	H154R	probably damaging	Het
Mrc2	A	T	11: 105,337,772	D659V	probably benign	Het
Mroh8	T	A	2: 157,221,304	E799V	probably damaging	Het
Mrpl21	A	G	19: 3,284,808	Y50C	possibly damaging	Het
Msl1	A	G	11: 98,803,982		probably benign	Het
Myo1a	C	A	10: 127,719,937	Q932K	probably benign	Het
Nav3	A	C	10: 109,720,044	S1675R	probably damaging	Het
Neurl2	A	G	2: 164,832,746	V232A	possibly damaging	Het
Nfatc1	T	A	18: 80,665,267		probably benign	Het
Odf3l2	A	T	10: 79,645,558		probably benign	Het
Olfr1362	C	T	13: 21,611,822	C49Y	probably benign	Het
Olfr175-ps1	T	A	16: 58,824,676	E11V	probably null	Het
P4hb	A	G	11: 120,562,555		probably benign	Het
Papss1	T	G	3: 131,605,854	I281S	probably damaging	Het
Pde10a	A	T	17: 8,964,708	D832V	probably damaging	Het
Pfkfb2	A	T	1: 130,708,190	Y35N	possibly damaging	Het
Phf20l1	T	A	15: 66,604,813	F253Y	probably damaging	Het
Pkhd1l1	G	A	15: 44,516,115	V1046I	probably benign	Het
Plin3	C	T	17: 56,284,337	A148T	probably benign	Het
Ppp1r8	T	C	4: 132,840,631		probably benign	Het
Prdm5	T	C	6: 65,883,601	V239A	probably damaging	Het
Prickle1	A	G	15: 93,500,638	S770P	probably damaging	Het
Prl2c5	T	A	13: 13,190,725	I155N	probably benign	Het
Prom1	T	C	5: 44,032,932		probably benign	Het
Psg25	C	T	7: 18,529,587	G104R	probably damaging	Het
Rbm19	T	C	5: 120,144,029	V817A	probably benign	Het
Ryr2	T	A	13: 11,727,022	Y2091F	probably damaging	Het
Slc16a4	A	G	3: 107,300,932	T253A	probably benign	Het
Smg7	A	T	1: 152,855,843		probably null	Het
Spink5	C	A	18: 44,007,719	H662N	probably benign	Het
Taf2	A	T	15: 55,059,915	M322K	probably damaging	Het
Tmc2	T	C	2: 130,248,762	F676S	probably damaging	Het
Tmem177	A	G	1: 119,910,185	S255P	possibly damaging	Het
Trim46	A	T	3: 89,235,068		probably null	Het
Tubb1	T	A	2: 174,450,803		probably null	Het
Upf1	T	C	8: 70,344,254	T110A	probably benign	Het
Vmn2r9	T	A	5: 108,848,984	I140L	probably benign	Het
Zfp638	T	A	6: 83,944,656	H588Q	probably damaging	Het
Zfp780b	T	A	7: 27,964,827	N101I	probably damaging	Het

Other mutations in Ppp2r3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00792:Ppp2r3a	APN	9	101211301	missense	possibly damaging	0.50
IGL01122:Ppp2r3a	APN	9	101211645	missense	probably benign	0.30
IGL02332:Ppp2r3a	APN	9	101180403	missense	possibly damaging	0.78
IGL02653:Ppp2r3a	APN	9	101211693	missense	probably benign	0.13
IGL03329:Ppp2r3a	APN	9	101126431	splice site	probably benign
IGL03351:Ppp2r3a	APN	9	101211192	missense	probably benign	0.00
lank	UTSW	9	101198630	critical splice donor site	probably null
PIT4480001:Ppp2r3a	UTSW	9	101126377	missense	possibly damaging	0.95
PIT4687001:Ppp2r3a	UTSW	9	101144380	missense	probably benign	0.00
R0243:Ppp2r3a	UTSW	9	101212284	missense	probably damaging	1.00
R1004:Ppp2r3a	UTSW	9	101198630	critical splice donor site	probably null
R1086:Ppp2r3a	UTSW	9	101153822	missense	possibly damaging	0.67
R1215:Ppp2r3a	UTSW	9	101212684	missense	probably benign	0.02
R1245:Ppp2r3a	UTSW	9	101194394	missense	probably damaging	0.99
R1682:Ppp2r3a	UTSW	9	101212306	missense	probably benign	0.00
R1857:Ppp2r3a	UTSW	9	101212893	missense	probably damaging	0.96
R1972:Ppp2r3a	UTSW	9	101211777	missense	probably benign	0.00
R2029:Ppp2r3a	UTSW	9	101145481	missense	probably damaging	1.00
R2076:Ppp2r3a	UTSW	9	101144371	missense	possibly damaging	0.83
R2135:Ppp2r3a	UTSW	9	101211558	missense	probably damaging	0.99
R2180:Ppp2r3a	UTSW	9	101127015	nonsense	probably null
R3155:Ppp2r3a	UTSW	9	101212360	missense	possibly damaging	0.56
R4797:Ppp2r3a	UTSW	9	101211980	missense	probably benign	0.01
R4829:Ppp2r3a	UTSW	9	101212510	missense	possibly damaging	0.67
R5269:Ppp2r3a	UTSW	9	101153865	missense	probably damaging	0.98
R5917:Ppp2r3a	UTSW	9	101211984	missense	probably benign	0.10
R5939:Ppp2r3a	UTSW	9	101212625	missense	probably benign	0.37
R6089:Ppp2r3a	UTSW	9	101211636	missense	probably benign	0.00
R6254:Ppp2r3a	UTSW	9	101148587	missense	possibly damaging	0.75
R6574:Ppp2r3a	UTSW	9	101194385	missense	probably benign	0.03
R6776:Ppp2r3a	UTSW	9	101212862	missense	probably benign	0.00
R6927:Ppp2r3a	UTSW	9	101175348	missense	probably damaging	1.00
R7189:Ppp2r3a	UTSW	9	101126422	missense	possibly damaging	0.59
R7190:Ppp2r3a	UTSW	9	101212527	missense	probably benign	0.11
R7288:Ppp2r3a	UTSW	9	101127004	missense	probably damaging	0.98
R7292:Ppp2r3a	UTSW	9	101212672	missense	probably damaging	0.96
R7512:Ppp2r3a	UTSW	9	101175333	missense	possibly damaging	0.69
R7655:Ppp2r3a	UTSW	9	101211712	missense	probably benign	0.30
R7656:Ppp2r3a	UTSW	9	101211712	missense	probably benign	0.30
R8174:Ppp2r3a	UTSW	9	101213302	start gained	probably benign
R8195:Ppp2r3a	UTSW	9	101213032	missense	probably damaging	1.00
R8344:Ppp2r3a	UTSW	9	101211786	missense	probably benign	0.03
R8775:Ppp2r3a	UTSW	9	101127005	missense	probably benign	0.00
R8775-TAIL:Ppp2r3a	UTSW	9	101127005	missense	probably benign	0.00
X0020:Ppp2r3a	UTSW	9	101212039	missense	probably benign	0.19
Z1176:Ppp2r3a	UTSW	9	101126389	missense	possibly damaging	0.67

Predicted Primers

PCR Primer
(F):5'- CTTCTGGCGTCTGCTGAATCAAAAC -3'
(R):5'- ACCACTTGCCAAGGGTAAAAGCATC -3'

Sequencing Primer
(F):5'- GTCTGCTGAATCAAAACAACTGAAG -3'
(R):5'- ATAGTCATTTGACTGCTCAGAGCC -3'

Posted On

2014-03-14