Mutagenetix > Incidental Mutation

Incidental Mutation 'R7831:Ppp2r2b'

605667

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

045885-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7831 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

42777811-43192827 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 42834597 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 191 (Y191F)

Ref Sequence

ENSEMBL: ENSMUSP00000025377 (fasta)

Gene Model

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

AlphaFold

Q6ZWR4

Predicted Effect

probably benign
Transcript: ENSMUST00000025377
AA Change: Y191F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000025377
Gene: ENSMUSG00000024500
AA Change: Y191F

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 benign
Transcript: ENSMUST00000117687
AA Change: Y188F

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000113731
Gene: ENSMUSG00000024500
AA Change: Y188F

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 benign
Transcript: ENSMUST00000120632
AA Change: Y188F

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000113411
Gene: ENSMUSG00000024500
AA Change: Y188F

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (87/87)

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
Abca13	G	A	11: 9,247,404 (GRCm39)	V2384I	possibly damaging	Het
Acsl1	A	G	8: 46,972,043 (GRCm39)	D297G	probably benign	Het
Ap2a1	C	A	7: 44,550,436 (GRCm39)	R944L	probably damaging	Het
Apbb1ip	A	G	2: 22,756,933 (GRCm39)	Y398C	probably damaging	Het
Atp8a2	A	T	14: 60,011,202 (GRCm39)	V968D	probably damaging	Het
Becn1	T	C	11: 101,181,279 (GRCm39)	T341A	probably benign	Het
Card11	G	T	5: 140,859,167 (GRCm39)	S1126R	possibly damaging	Het
Ccdc51	T	C	9: 108,921,058 (GRCm39)	L315S	probably damaging	Het
Cdk12	T	C	11: 98,140,653 (GRCm39)	L1298P	unknown	Het
Cep170b	A	T	12: 112,711,234 (GRCm39)	D1538V	probably benign	Het
Cfap52	A	T	11: 67,826,782 (GRCm39)	F348I	possibly damaging	Het
Clip1	A	T	5: 123,751,342 (GRCm39)	M813K		Het
Col19a1	G	A	1: 24,565,563 (GRCm39)	T256I	unknown	Het
Col6a3	A	T	1: 90,724,268 (GRCm39)	C2027*	probably null	Het
Crisp4	A	T	1: 18,199,013 (GRCm39)	N140K	probably benign	Het
Crocc2	G	T	1: 93,143,195 (GRCm39)	A1266S	probably benign	Het
Cyfip2	G	A	11: 46,087,273 (GRCm39)	R1206C	probably damaging	Het
Cyp24a1	T	A	2: 170,327,860 (GRCm39)	M461L	probably damaging	Het
Cyp2a5	C	T	7: 26,534,940 (GRCm39)	T51I	possibly damaging	Het
Cyp2b19	C	T	7: 26,466,565 (GRCm39)	H398Y	possibly damaging	Het
Cyp4a29	G	A	4: 115,107,367 (GRCm39)	V234I	probably benign	Het
Dicer1	T	G	12: 104,675,059 (GRCm39)	K734N	probably damaging	Het
Dnai1	T	C	4: 41,614,695 (GRCm39)		probably null	Het
Entpd3	G	A	9: 120,373,025 (GRCm39)	G14D	probably damaging	Het
Entrep3	G	A	3: 89,091,520 (GRCm39)		probably null	Het
Ermp1	T	C	19: 29,595,367 (GRCm39)	T634A	probably benign	Het
Evc	C	T	5: 37,476,427 (GRCm39)	G374D	probably damaging	Het
Fcgbp	C	A	7: 27,806,404 (GRCm39)	T2124K	probably damaging	Het
Fgf8	G	A	19: 45,730,876 (GRCm39)	P50S	probably benign	Het
Fmnl1	C	T	11: 103,088,999 (GRCm39)	R1074W	unknown	Het
Galnt18	C	T	7: 111,155,665 (GRCm39)	V223M	possibly damaging	Het
Galnt2	A	G	8: 125,058,817 (GRCm39)	N295S	probably benign	Het
Grip1	T	G	10: 119,854,011 (GRCm39)	V600G	probably damaging	Het
Insm2	T	A	12: 55,647,323 (GRCm39)	C356S	probably damaging	Het
Itpr2	T	A	6: 146,193,082 (GRCm39)	I1672F	probably benign	Het
Kdm1b	T	G	13: 47,204,098 (GRCm39)	N76K	probably benign	Het
Khnyn	T	A	14: 56,125,303 (GRCm39)		probably null	Het
Kidins220	C	T	12: 25,111,230 (GRCm39)	A1167V	possibly damaging	Het
Krt40	T	C	11: 99,432,087 (GRCm39)	D208G	probably benign	Het
Lars1	T	A	18: 42,350,627 (GRCm39)	D894V	probably benign	Het
Lmx1a	A	T	1: 167,668,521 (GRCm39)	N266I	probably benign	Het
Mrgprb5	T	A	7: 47,817,997 (GRCm39)	K246M	probably benign	Het
Mrpl2	G	A	17: 46,959,598 (GRCm39)	G176R	possibly damaging	Het
Muc21	T	A	17: 35,929,651 (GRCm39)	T1512S	unknown	Het
Nell1	T	A	7: 49,632,548 (GRCm39)	F60L	possibly damaging	Het
Nnt	G	A	13: 119,506,630 (GRCm39)	A453V	possibly damaging	Het
Opa1	A	G	16: 29,467,755 (GRCm39)	K940R	probably benign	Het
Opn5	A	C	17: 42,891,510 (GRCm39)	I309S	probably null	Het
Or1af1	C	T	2: 37,109,723 (GRCm39)	T74I	probably damaging	Het
Or1r1	A	C	11: 73,875,257 (GRCm39)	M59R	probably damaging	Het
Or2ag15	T	A	7: 106,340,620 (GRCm39)	I174F	probably damaging	Het
P3h3	T	G	6: 124,832,118 (GRCm39)	E256A	possibly damaging	Het
Pald1	G	T	10: 61,191,593 (GRCm39)	T65K	probably damaging	Het
Pcnx3	T	C	19: 5,735,989 (GRCm39)	Y279C	probably damaging	Het
Pik3c2b	G	A	1: 132,998,980 (GRCm39)	S367N	possibly damaging	Het
Pik3cb	T	C	9: 98,970,666 (GRCm39)	T342A	probably benign	Het
Pkd1l3	A	T	8: 110,357,990 (GRCm39)	E837D	possibly damaging	Het
Ppp4r4	G	A	12: 103,557,080 (GRCm39)	E439K	possibly damaging	Het
Ptprk	A	G	10: 28,444,404 (GRCm39)	I946V	possibly damaging	Het
Ror1	A	G	4: 100,298,295 (GRCm39)	N556S	probably benign	Het
Ryr3	C	T	2: 112,757,183 (GRCm39)	A391T	possibly damaging	Het
Selp	G	A	1: 163,972,584 (GRCm39)		probably null	Het
Setx	T	C	2: 29,047,120 (GRCm39)	L1866S	probably damaging	Het
Setx	T	A	2: 29,069,866 (GRCm39)	V2557E	possibly damaging	Het
Slc66a3	T	A	12: 17,047,632 (GRCm39)		probably null	Het
Slit2	A	G	5: 48,402,025 (GRCm39)	T805A	probably benign	Het
Sorbs3	T	G	14: 70,440,481 (GRCm39)	N89T	possibly damaging	Het
Sorl1	C	A	9: 42,001,257 (GRCm39)	V248L	probably benign	Het
Srebf2	T	A	15: 82,066,288 (GRCm39)	V612E	probably damaging	Het
Sv2c	T	A	13: 96,113,200 (GRCm39)	Y583F	probably damaging	Het
Tada1	G	T	1: 166,217,442 (GRCm39)	R193I	probably damaging	Het
Tnrc6b	C	G	15: 80,764,580 (GRCm39)	A694G	possibly damaging	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Ttn	C	T	2: 76,711,425 (GRCm39)	G8372D	unknown	Het
Ube2g2	A	G	10: 77,470,576 (GRCm39)	T68A		Het
Ubl7	T	G	9: 57,821,918 (GRCm39)	V89G	possibly damaging	Het
Ush2a	T	A	1: 188,492,038 (GRCm39)	I3109N	probably damaging	Het
Utp20	T	A	10: 88,598,632 (GRCm39)	K115*	probably null	Het
Vmn2r26	T	A	6: 124,016,758 (GRCm39)	Y407*	probably null	Het
Yod1	G	T	1: 130,646,986 (GRCm39)	V288F	probably damaging	Het
Zbed5	A	C	5: 129,930,798 (GRCm39)	N249T	possibly damaging	Het
Zbtb5	T	C	4: 44,995,244 (GRCm39)	T47A	probably damaging	Het
Zcchc14	T	C	8: 122,331,984 (GRCm39)	T460A	not run	Het
Zfp712	A	C	13: 67,200,483 (GRCm39)		probably null	Het
Zfyve16	A	T	13: 92,658,836 (GRCm39)	H358Q	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
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
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
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'- TTCCCTTCATAGATGCCAGAC -3'
(R):5'- GACAGAGCATGAACCCATTTTG -3'

Sequencing Primer
(F):5'- GATGCCAGACATTTCCATTTTGACG -3'
(R):5'- CAGAGCATGAACCCATTTTGTACAAG -3'

Posted On

2019-12-20