Mutagenetix > Incidental Mutation

Incidental Mutation 'R5062:Ppp2r2b'

386720

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

042652-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5062 (G1)

Quality Score

223

Status

Validated

Chromosome

Chromosomal Location

42777811-43192827 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 42821526 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 211 (V211L)

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: V214L

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000025377
Gene: ENSMUSG00000024500
AA Change: V214L

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: V211L

PolyPhen 2 Score 0.477 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000113731
Gene: ENSMUSG00000024500
AA Change: V211L

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: V211L

PolyPhen 2 Score 0.477 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000113411
Gene: ENSMUSG00000024500
AA Change: V211L

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

Meta Mutation Damage Score

0.3177

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 90.1%

Validation Efficiency

100% (79/79)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,067,892 (GRCm39)	I1593N	probably benign	Het
Akr1b10	G	T	6: 34,369,041 (GRCm39)	K173N	probably damaging	Het
Artn	A	T	4: 117,784,873 (GRCm39)	L3Q	probably damaging	Het
Asxl3	T	A	18: 22,655,775 (GRCm39)	S1262T	possibly damaging	Het
Atp6v0a4	A	T	6: 38,051,118 (GRCm39)	M420K	probably benign	Het
Bcam	T	A	7: 19,494,026 (GRCm39)	T422S	possibly damaging	Het
Casp2	C	T	6: 42,246,206 (GRCm39)		probably benign	Het
Ccdc137	A	G	11: 120,353,341 (GRCm39)		probably benign	Het
Cd177	C	A	7: 24,443,741 (GRCm39)	A786S	probably benign	Het
Cdca4	T	C	12: 112,785,483 (GRCm39)	N82D	probably benign	Het
Clu	A	C	14: 66,217,177 (GRCm39)	T337P	probably damaging	Het
Col6a3	A	C	1: 90,707,074 (GRCm39)	I2013S	unknown	Het
Cpne9	T	A	6: 113,281,449 (GRCm39)	M510K	probably damaging	Het
Cyp3a13	A	C	5: 137,897,161 (GRCm39)	N384K	possibly damaging	Het
Fam186a	A	C	15: 99,842,527 (GRCm39)	I1239S	possibly damaging	Het
Fryl	T	C	5: 73,233,236 (GRCm39)	E413G	possibly damaging	Het
Fscn2	A	C	11: 120,257,575 (GRCm39)	Y312S	probably damaging	Het
Fshr	A	T	17: 89,293,474 (GRCm39)	C401*	probably null	Het
Glyat	A	C	19: 12,627,627 (GRCm39)	Q74P	probably damaging	Het
Gm6158	A	T	14: 24,120,158 (GRCm39)		noncoding transcript	Het
Grm7	A	G	6: 110,623,097 (GRCm39)	N90S	probably damaging	Het
Hectd1	A	T	12: 51,791,662 (GRCm39)	C2536S	probably damaging	Het
Herc3	C	T	6: 58,832,745 (GRCm39)	Q137*	probably null	Het
Kctd3	A	C	1: 188,727,890 (GRCm39)		probably benign	Het
Klhl30	A	G	1: 91,283,300 (GRCm39)	T301A	probably benign	Het
Klra9	T	C	6: 130,156,072 (GRCm39)	K228E	possibly damaging	Het
Lamc3	A	T	2: 31,795,679 (GRCm39)	T355S	possibly damaging	Het
Lcmt1	A	C	7: 123,010,053 (GRCm39)		probably null	Het
Limch1	C	T	5: 67,126,578 (GRCm39)	P60S	probably damaging	Het
Lrfn2	A	G	17: 49,377,528 (GRCm39)	D203G	probably damaging	Het
Mc5r	T	C	18: 68,472,352 (GRCm39)	L237P	probably damaging	Het
Mknk2	G	A	10: 80,507,603 (GRCm39)	R58W	probably damaging	Het
Mrgpra2b	T	C	7: 47,152,676 (GRCm39)		probably benign	Het
Mroh2a	GCCC	GC	1: 88,159,979 (GRCm39)		probably null	Het
Nae1	A	T	8: 105,243,334 (GRCm39)	C395S	possibly damaging	Het
Ncoa1	A	G	12: 4,309,333 (GRCm39)	M1321T	probably damaging	Het
Neb	A	C	2: 52,170,513 (GRCm39)	F1720V	possibly damaging	Het
Nectin2	C	T	7: 19,472,198 (GRCm39)	V64I	probably benign	Het
Nisch	T	A	14: 30,894,397 (GRCm39)	T1145S	probably damaging	Het
Nlrp5	A	T	7: 23,135,335 (GRCm39)	R1009*	probably null	Het
Or12d13	A	T	17: 37,647,822 (GRCm39)	H100Q	probably damaging	Het
Or4k15	T	A	14: 50,364,894 (GRCm39)	Y287N	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pak1ip1	A	G	13: 41,161,621 (GRCm39)		probably benign	Het
Pcm1	T	C	8: 41,712,297 (GRCm39)	V189A	probably damaging	Het
Peak1	G	T	9: 56,167,573 (GRCm39)	N118K	probably damaging	Het
Phgdh	T	A	3: 98,235,655 (GRCm39)	I121F	probably damaging	Het
Pi4ka	G	T	16: 17,127,261 (GRCm39)	A1064E	probably benign	Het
Pkhd1	A	C	1: 20,655,935 (GRCm39)	C199W	probably benign	Het
Plat	A	G	8: 23,262,327 (GRCm39)	D117G	probably benign	Het
Ptgs1	A	G	2: 36,127,294 (GRCm39)	D60G	probably damaging	Het
Ryr2	T	C	13: 11,715,240 (GRCm39)	E2776G	probably damaging	Het
Sema4c	C	T	1: 36,592,059 (GRCm39)		probably null	Het
Sharpin	T	C	15: 76,231,811 (GRCm39)		probably benign	Het
Slamf6	A	G	1: 171,764,100 (GRCm39)	I164M	possibly damaging	Het
Slco1a7	A	C	6: 141,713,180 (GRCm39)	M67R	possibly damaging	Het
Spef1	A	G	2: 131,015,201 (GRCm39)	Y46H	probably damaging	Het
Spns1	G	A	7: 125,973,501 (GRCm39)		probably benign	Het
Supt5	C	T	7: 28,028,440 (GRCm39)		probably null	Het
Tbx5	T	A	5: 119,974,987 (GRCm39)	D3E	probably damaging	Het
Thbs1	T	C	2: 117,951,718 (GRCm39)		probably null	Het
Tmem140	G	A	6: 34,849,897 (GRCm39)	V138M	probably damaging	Het
Tmem200a	T	A	10: 25,869,813 (GRCm39)	D152V	probably damaging	Het
Tmem200b	A	G	4: 131,649,848 (GRCm39)	D256G	probably damaging	Het
Tns1	A	T	1: 73,992,023 (GRCm39)	L885Q	probably damaging	Het
Umod	G	A	7: 119,071,644 (GRCm39)	Q366*	probably null	Het
Vsir	A	G	10: 60,200,042 (GRCm39)	I208V	probably damaging	Het
Zfp646	G	A	7: 127,479,671 (GRCm39)	R616H	probably damaging	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
R1459:Ppp2r2b	UTSW	18	42,871,055 (GRCm39)	missense	probably damaging	1.00
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
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'- CTCTTCCCGAATGTCAGTGG -3'
(R):5'- TTCTTAAAGCCCCTGAGCCC -3'

Sequencing Primer
(F):5'- AATGTCAGTGGCCAGGACACC -3'
(R):5'- CCCCGGCTGCCAGAAAC -3'

Posted On

2016-06-06