Mutagenetix > Incidental Mutation

Incidental Mutation 'R1459:Ppp2r2b'

162013

Institutional Source

Beutler Lab

Gene Symbol

Ppp2r2b

Ensembl Gene

ENSMUSG00000024500

Gene Name

protein phosphatase 2, regulatory subunit B, beta

Synonyms

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

MMRRC Submission

039514-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1459 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42777811-43192827 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 42871055 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 82 (Y82F)

Ref Sequence

ENSEMBL: ENSMUSP00000113411 (fasta)

Gene Model

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

AlphaFold

Q6ZWR4

Predicted Effect

probably benign
Transcript: ENSMUST00000025377
AA Change: Y85F

PolyPhen 2 Score 0.348 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000025377
Gene: ENSMUSG00000024500
AA Change: Y85F

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

probably damaging
Transcript: ENSMUST00000117687
AA Change: Y82F

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

SMART Domains

Protein: ENSMUSP00000113731
Gene: ENSMUSG00000024500
AA Change: Y82F

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

probably damaging
Transcript: ENSMUST00000120632
AA Change: Y82F

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

SMART Domains

Protein: ENSMUSP00000113411
Gene: ENSMUSG00000024500
AA Change: Y82F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153737

Meta Mutation Damage Score

0.2870

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.5%

Validation Efficiency

96% (87/91)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	C	T	4: 62,450,578 (GRCm39)	R51W	probably damaging	Het
Abcb1a	T	A	5: 8,752,920 (GRCm39)	L557Q	probably damaging	Het
Abcb4	T	C	5: 8,968,662 (GRCm39)	F334L	possibly damaging	Het
Adamts14	T	A	10: 61,034,583 (GRCm39)	T1102S	probably benign	Het
Adamtsl1	T	C	4: 86,344,102 (GRCm39)	Y1719H	probably damaging	Het
Adcyap1	T	C	17: 93,507,550 (GRCm39)		probably null	Het
Ankrd13c	T	A	3: 157,677,947 (GRCm39)	L219Q	probably damaging	Het
Ano3	C	A	2: 110,711,174 (GRCm39)	A97S	probably benign	Het
Apaf1	T	C	10: 90,898,022 (GRCm39)	N245S	probably benign	Het
Apob	A	G	12: 8,056,047 (GRCm39)	T1510A	probably benign	Het
Apob	A	G	12: 8,061,937 (GRCm39)	D3473G	possibly damaging	Het
Arfgap3	G	A	15: 83,191,138 (GRCm39)	T12I	probably benign	Het
Bend4	A	G	5: 67,557,418 (GRCm39)	V466A	probably damaging	Het
Bend7	G	A	2: 4,749,239 (GRCm39)	E119K	probably damaging	Het
Capn5	G	T	7: 97,781,049 (GRCm39)	R243S	possibly damaging	Het
Cd84	A	G	1: 171,679,510 (GRCm39)	I63V	probably benign	Het
Cd86	T	A	16: 36,449,350 (GRCm39)	T16S	probably benign	Het
Cdc42bpb	A	G	12: 111,262,734 (GRCm39)		probably benign	Het
Cep20	G	A	16: 14,122,380 (GRCm39)	T128I	possibly damaging	Het
Cep95	C	T	11: 106,708,781 (GRCm39)	S26L	probably damaging	Het
Cldn19	C	T	4: 119,112,810 (GRCm39)	A14V	probably damaging	Het
Cluap1	T	A	16: 3,755,453 (GRCm39)	M356K	probably damaging	Het
Coq7	C	T	7: 118,109,260 (GRCm39)	G263S	unknown	Het
Ctnnd2	A	C	15: 30,847,445 (GRCm39)	T679P	probably damaging	Het
Dnah10	A	G	5: 124,820,750 (GRCm39)	D528G	possibly damaging	Het
Dvl1	T	A	4: 155,938,476 (GRCm39)	N133K	probably damaging	Het
Efcab7	T	G	4: 99,769,744 (GRCm39)	H550Q	probably null	Het
Fastkd5	C	T	2: 130,456,717 (GRCm39)	M624I	probably damaging	Het
Fbxo42	T	C	4: 140,895,073 (GRCm39)	V12A	probably benign	Het
Gabarapl1	T	A	6: 129,515,635 (GRCm39)	M91K	possibly damaging	Het
Gas7	A	G	11: 67,552,902 (GRCm39)	N154S	probably damaging	Het
Gm21814	T	A	6: 149,483,650 (GRCm39)		noncoding transcript	Het
Gnl3	G	A	14: 30,739,803 (GRCm39)	R12C	probably damaging	Het
Golga2	T	G	2: 32,187,807 (GRCm39)		probably null	Het
Grk3	T	A	5: 113,062,878 (GRCm39)	R656S	probably benign	Het
Gsap	T	A	5: 21,412,236 (GRCm39)		probably benign	Het
H60c	T	C	10: 3,210,240 (GRCm39)	Q103R	probably benign	Het
Hnrnpr	T	A	4: 136,056,755 (GRCm39)	S252T	probably damaging	Het
Itgb4	A	T	11: 115,869,937 (GRCm39)	T40S	probably benign	Het
Krtap27-1	T	C	16: 88,468,302 (GRCm39)	N81D	probably benign	Het
Lilrb4a	T	A	10: 51,367,683 (GRCm39)	L75Q	probably benign	Het
Lrp2	T	A	2: 69,290,821 (GRCm39)	E3546D	probably damaging	Het
Lrp2	T	A	2: 69,313,738 (GRCm39)	D2331V	probably damaging	Het
Lzts2	T	A	19: 45,009,893 (GRCm39)	V9E	probably damaging	Het
Matr3	T	A	18: 35,717,709 (GRCm39)	D302E	probably benign	Het
Mcoln2	A	G	3: 145,897,979 (GRCm39)		probably null	Het
Metap2	T	C	10: 93,704,811 (GRCm39)	D272G	probably damaging	Het
Mitf	A	G	6: 97,987,428 (GRCm39)	D337G	probably damaging	Het
Mrtfb	T	C	16: 13,219,433 (GRCm39)	V693A	possibly damaging	Het
Msh2	A	G	17: 87,985,771 (GRCm39)	E116G	probably benign	Het
Nlrp10	T	A	7: 108,523,555 (GRCm39)	M642L	probably benign	Het
Noxa1	G	T	2: 24,982,558 (GRCm39)	Q86K	probably benign	Het
Nrap	T	C	19: 56,372,562 (GRCm39)	T48A	probably benign	Het
Nup160	T	A	2: 90,520,494 (GRCm39)	H308Q	probably damaging	Het
Osbpl11	T	C	16: 33,056,699 (GRCm39)	L711P	probably damaging	Het
Osbpl6	A	G	2: 76,385,409 (GRCm39)	N281S	probably benign	Het
Pcnp	C	T	16: 55,844,703 (GRCm39)	E66K	possibly damaging	Het
Phf11	T	A	14: 59,482,227 (GRCm39)	E175D	probably damaging	Het
Pik3cg	A	G	12: 32,254,983 (GRCm39)	Y335H	probably damaging	Het
Plekhg4	T	C	8: 106,108,431 (GRCm39)	L1053S	probably damaging	Het
Plekhh2	G	T	17: 84,918,203 (GRCm39)	E1271*	probably null	Het
Prkd3	T	C	17: 79,278,796 (GRCm39)	D430G	probably damaging	Het
Prl7d1	C	T	13: 27,893,240 (GRCm39)	D224N	possibly damaging	Het
Ptpdc1	A	T	13: 48,740,173 (GRCm39)	N419K	possibly damaging	Het
Serinc5	T	A	13: 92,797,695 (GRCm39)		probably null	Het
Sipa1	A	G	19: 5,701,692 (GRCm39)	L981P	probably damaging	Het
Slc16a7	A	T	10: 125,066,489 (GRCm39)	C383*	probably null	Het
Slc19a1	C	G	10: 76,878,369 (GRCm39)	Y301*	probably null	Het
Slc22a14	A	T	9: 119,052,827 (GRCm39)	V14E	possibly damaging	Het
Slpi	C	A	2: 164,196,837 (GRCm39)	C95F	probably damaging	Het
Smurf2	G	A	11: 106,743,333 (GRCm39)	H225Y	possibly damaging	Het
Son	T	C	16: 91,452,230 (GRCm39)	S326P	possibly damaging	Het
Sptb	T	A	12: 76,658,657 (GRCm39)	K1262M	probably benign	Het
Sugp2	T	A	8: 70,696,714 (GRCm39)		probably benign	Het
Tatdn2	T	A	6: 113,687,031 (GRCm39)	H747Q	probably damaging	Het
Tcn2	C	A	11: 3,877,516 (GRCm39)	R44L	probably benign	Het
Tenm3	G	A	8: 48,689,006 (GRCm39)	R2194C	probably damaging	Het
Tnks2	T	A	19: 36,822,931 (GRCm39)		probably benign	Het
Top3a	A	T	11: 60,650,188 (GRCm39)	I120N	probably damaging	Het
Umodl1	T	A	17: 31,201,232 (GRCm39)		probably benign	Het
Umodl1	T	C	17: 31,205,478 (GRCm39)	V662A	probably benign	Het
Ush2a	T	C	1: 188,595,048 (GRCm39)	S3827P	probably benign	Het
Vasn	T	A	16: 4,466,473 (GRCm39)		probably null	Het
Vmn2r69	A	T	7: 85,055,908 (GRCm39)	C743*	probably null	Het
Vmn2r79	C	A	7: 86,687,002 (GRCm39)	H794Q	probably benign	Het

Other mutations in Ppp2r2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00825:Ppp2r2b	APN	18	42,778,840 (GRCm39)	missense	probably damaging	0.99
IGL01999:Ppp2r2b	APN	18	42,778,788 (GRCm39)	utr 3 prime	probably benign
IGL02610:Ppp2r2b	APN	18	42,781,840 (GRCm39)	splice site	probably benign
IGL02733:Ppp2r2b	APN	18	42,781,793 (GRCm39)	missense	possibly damaging	0.96
IGL02899:Ppp2r2b	APN	18	42,778,874 (GRCm39)	missense	probably damaging	1.00
Degradation	UTSW	18	42,821,403 (GRCm39)	missense	probably benign	0.27
R0737:Ppp2r2b	UTSW	18	43,192,257 (GRCm39)	missense	probably benign
R1616:Ppp2r2b	UTSW	18	42,821,375 (GRCm39)	missense	probably benign	0.32
R1635:Ppp2r2b	UTSW	18	43,192,275 (GRCm39)	missense	probably benign	0.01
R3435:Ppp2r2b	UTSW	18	42,874,174 (GRCm39)	missense	possibly damaging	0.48
R4204:Ppp2r2b	UTSW	18	42,871,115 (GRCm39)	missense	probably benign
R4301:Ppp2r2b	UTSW	18	43,031,811 (GRCm39)	missense	probably null
R5062:Ppp2r2b	UTSW	18	42,821,526 (GRCm39)	missense	possibly damaging	0.48
R5147:Ppp2r2b	UTSW	18	42,778,942 (GRCm39)	missense	probably benign	0.00
R5207:Ppp2r2b	UTSW	18	42,821,417 (GRCm39)	missense	probably damaging	1.00
R5277:Ppp2r2b	UTSW	18	42,874,207 (GRCm39)	missense	probably damaging	1.00
R6004:Ppp2r2b	UTSW	18	43,192,224 (GRCm39)	splice site	probably null
R6528:Ppp2r2b	UTSW	18	42,821,403 (GRCm39)	missense	probably benign	0.27
R6735:Ppp2r2b	UTSW	18	42,821,653 (GRCm39)	splice site	probably null
R7521:Ppp2r2b	UTSW	18	43,192,242 (GRCm39)	missense	probably benign
R7831:Ppp2r2b	UTSW	18	42,834,597 (GRCm39)	missense	probably benign
R8405:Ppp2r2b	UTSW	18	42,778,805 (GRCm39)	missense	probably benign	0.00
R8486:Ppp2r2b	UTSW	18	43,031,869 (GRCm39)	missense	probably benign	0.17
R8906:Ppp2r2b	UTSW	18	42,821,399 (GRCm39)	missense	probably damaging	1.00
R8998:Ppp2r2b	UTSW	18	42,870,993 (GRCm39)	missense	probably benign	0.37
R8999:Ppp2r2b	UTSW	18	42,870,993 (GRCm39)	missense	probably benign	0.37
R9081:Ppp2r2b	UTSW	18	42,781,825 (GRCm39)	missense	probably benign	0.41
R9201:Ppp2r2b	UTSW	18	42,871,101 (GRCm39)	missense	possibly damaging	0.87
R9303:Ppp2r2b	UTSW	18	42,779,025 (GRCm39)	missense	possibly damaging	0.82
R9305:Ppp2r2b	UTSW	18	42,779,025 (GRCm39)	missense	possibly damaging	0.82
Z1177:Ppp2r2b	UTSW	18	42,821,488 (GRCm39)	missense	probably damaging	1.00
Z1177:Ppp2r2b	UTSW	18	42,781,758 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TCGATAACGGGCTCCACAAAACTG -3'
(R):5'- ACCAAAGCTGAATCTACGGCTGC -3'

Sequencing Primer
(F):5'- TGCACCATGAATTCTGCTAAGC -3'
(R):5'- TCCCAGAGGGACCCTAATG -3'

Posted On

2014-03-14