Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02733:Ppp2r2b'

305542

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ppp2r2b

Ensembl Gene

ENSMUSG00000024500

Gene Name

protein phosphatase 2, regulatory subunit B, beta

Synonyms

SCA12, 6330404L05Rik, 2900026H06Rik, E130009M08Rik, PR55-BETA, PP2A-PR55B

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02733

Quality Score

Status

Chromosome

Chromosomal Location

42637432-43059471 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42648728 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 336 (Y336C)

Ref Sequence

ENSEMBL: ENSMUSP00000025377 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025377] [ENSMUST00000117687] [ENSMUST00000120632]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025377
AA Change: Y336C

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000025377
Gene: ENSMUSG00000024500
AA Change: Y336C

Domain	Start	End	E-Value	Type
WD40	14	55	6.42e-1	SMART
WD40	82	122	3.7e0	SMART
WD40	164	203	1.66e0	SMART
WD40	214	254	1.38e1	SMART
WD40	273	311	5.7e1	SMART
Blast:WD40	315	369	6e-26	BLAST
WD40	405	442	1.33e1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117687
AA Change: Y333C

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113731
Gene: ENSMUSG00000024500
AA Change: Y333C

Domain	Start	End	E-Value	Type
WD40	13	52	1.92e0	SMART
WD40	79	119	3.7e0	SMART
WD40	161	200	1.66e0	SMART
WD40	211	251	1.38e1	SMART
WD40	270	308	5.7e1	SMART
Blast:WD40	312	366	4e-26	BLAST
WD40	402	439	1.33e1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120632
AA Change: Y333C

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113411
Gene: ENSMUSG00000024500
AA Change: Y333C

Domain	Start	End	E-Value	Type
WD40	13	52	1.92e0	SMART
WD40	79	119	3.7e0	SMART
WD40	161	200	1.66e0	SMART
WD40	211	251	1.38e1	SMART
WD40	270	308	5.7e1	SMART
Blast:WD40	312	366	4e-26	BLAST
WD40	402	439	1.33e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136118

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the phosphatase 2 regulatory subunit B family. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a beta isoform of the regulatory subunit B55 subfamily. Defects in this gene cause autosomal dominant spinocerebellar ataxia 12 (SCA12), a disease caused by degeneration of the cerebellum, sometimes involving the brainstem and spinal cord, and in resulting in poor coordination of speech and body movements. Multiple alternatively spliced variants, which encode different isoforms, have been identified for this gene. The 5' UTR of some of these variants includes a CAG trinucleotide repeat sequence (7-28 copies) that can be expanded to 55-78 copies in cases of SCA12. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acnat1	T	A	4: 49,447,793	T245S	probably benign	Het
Agl	T	C	3: 116,780,997	I718V	probably benign	Het
Cbs	T	A	17: 31,625,031	N209Y	probably benign	Het
Cd163	T	C	6: 124,325,341	C955R	probably damaging	Het
Dnajb3	A	G	1: 88,204,940		probably benign	Het
Dopey2	G	A	16: 93,739,191	R59Q	possibly damaging	Het
Dtx1	A	G	5: 120,681,435	L566P	probably damaging	Het
Fam198a	A	G	9: 121,965,028	R83G	probably benign	Het
Fgf14	G	T	14: 123,983,801	P197Q	probably damaging	Het
Gcc1	G	A	6: 28,420,662	Q66*	probably null	Het
Gypc	T	C	18: 32,559,826		probably benign	Het
Helz2	G	A	2: 181,235,026	A1225V	probably benign	Het
Herc1	A	G	9: 66,450,992	T2452A	probably benign	Het
Hoxc4	A	G	15: 103,034,726	I2V	probably benign	Het
Impa1	A	G	3: 10,328,965	I14T	probably benign	Het
Itih1	T	A	14: 30,936,720	D400V	probably damaging	Het
Lama3	T	C	18: 12,578,127	Y3206H	probably damaging	Het
Lce1k	T	A	3: 92,806,885		probably benign	Het
Mcpt4	C	T	14: 56,060,667	M142I	probably benign	Het
Myo15b	A	G	11: 115,884,250	E2168G	probably benign	Het
Myom3	G	T	4: 135,814,303	E1402*	probably null	Het
Nfyb	G	T	10: 82,755,033	Q55K	probably damaging	Het
Nobox	T	C	6: 43,307,202	K137E	possibly damaging	Het
Pnlip	T	A	19: 58,680,788	D406E	probably benign	Het
Pole	A	T	5: 110,312,728		probably benign	Het
Prkg1	T	C	19: 31,302,301	T178A	probably damaging	Het
Prr11	C	T	11: 87,103,545	A92T	possibly damaging	Het
Racgap1	G	T	15: 99,639,704	S67R	probably damaging	Het
Scn10a	G	A	9: 119,616,705	P1462S	probably damaging	Het
Sptbn1	T	C	11: 30,197,747	E29G	probably benign	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Vmn2r72	T	A	7: 85,751,813	T133S	probably benign	Het
Zbtb20	A	G	16: 43,609,933	H269R	possibly damaging	Het
Zwilch	A	T	9: 64,146,836	N526K	probably benign	Het

Other mutations in Ppp2r2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00825:Ppp2r2b	APN	18	42645775	missense	probably damaging	0.99
IGL01999:Ppp2r2b	APN	18	42645723	utr 3 prime	probably benign
IGL02610:Ppp2r2b	APN	18	42648775	splice site	probably benign
IGL02899:Ppp2r2b	APN	18	42645809	missense	probably damaging	1.00
Degradation	UTSW	18	42688338	missense	probably benign	0.27
R0737:Ppp2r2b	UTSW	18	43059192	missense	probably benign
R1459:Ppp2r2b	UTSW	18	42737990	missense	probably damaging	1.00
R1616:Ppp2r2b	UTSW	18	42688310	missense	probably benign	0.32
R1635:Ppp2r2b	UTSW	18	43059210	missense	probably benign	0.01
R3435:Ppp2r2b	UTSW	18	42741109	missense	possibly damaging	0.48
R4204:Ppp2r2b	UTSW	18	42738050	missense	probably benign
R4301:Ppp2r2b	UTSW	18	42898746	missense	probably null
R5062:Ppp2r2b	UTSW	18	42688461	missense	possibly damaging	0.48
R5147:Ppp2r2b	UTSW	18	42645877	missense	probably benign	0.00
R5207:Ppp2r2b	UTSW	18	42688352	missense	probably damaging	1.00
R5277:Ppp2r2b	UTSW	18	42741142	missense	probably damaging	1.00
R6004:Ppp2r2b	UTSW	18	43059159	splice site	probably null
R6528:Ppp2r2b	UTSW	18	42688338	missense	probably benign	0.27
R6735:Ppp2r2b	UTSW	18	42688588	intron	probably null
R7521:Ppp2r2b	UTSW	18	43059177	missense	probably benign
R7831:Ppp2r2b	UTSW	18	42701532	missense	probably benign
R7914:Ppp2r2b	UTSW	18	42701532	missense	probably benign
Z1177:Ppp2r2b	UTSW	18	42648693	missense	probably benign	0.04
Z1177:Ppp2r2b	UTSW	18	42688423	missense	probably damaging	1.00

Posted On

2015-04-16