Incidental Mutation 'R1635:Ppp2r2b'
ID 173127
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1635 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 42777811-43192827 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 43192275 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 11 (I11F)
Ref Sequence ENSEMBL: ENSMUSP00000025377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025377]
AlphaFold Q6ZWR4
Predicted Effect probably benign
Transcript: ENSMUST00000025377
AA Change: I11F

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000025377
Gene: ENSMUSG00000024500
AA Change: I11F

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.0%
  • 20x: 91.9%
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 A T 2: 25,334,868 (GRCm39) I1947F probably benign Het
Adgrd1 G T 5: 129,205,971 (GRCm39) V182F probably damaging Het
Agmat A G 4: 141,474,380 (GRCm39) D87G probably damaging Het
AI182371 T C 2: 34,978,749 (GRCm39) probably null Het
Anapc1 G T 2: 128,470,452 (GRCm39) H1559Q probably damaging Het
Ankar T C 1: 72,689,297 (GRCm39) Y1278C probably damaging Het
Arhgef2 A T 3: 88,546,628 (GRCm39) probably null Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Banp A T 8: 122,727,750 (GRCm39) I130F probably damaging Het
C130050O18Rik G T 5: 139,400,248 (GRCm39) R100S probably benign Het
Carmil3 A G 14: 55,733,739 (GRCm39) T374A possibly damaging Het
Cc2d2a T A 5: 43,879,812 (GRCm39) W1076R probably damaging Het
Cdc34 T G 10: 79,523,888 (GRCm39) S235A probably benign Het
Cdh8 G T 8: 99,757,656 (GRCm39) H647Q probably damaging Het
Cdk1 A T 10: 69,174,377 (GRCm39) L282Q probably damaging Het
Ceacam3 A G 7: 16,893,902 (GRCm39) D471G probably damaging Het
Ciao2b A T 8: 105,367,620 (GRCm39) I108N possibly damaging Het
Cltc A T 11: 86,648,105 (GRCm39) I4N probably benign Het
Cntfr T A 4: 41,658,816 (GRCm39) E305V probably damaging Het
Cwh43 T A 5: 73,591,653 (GRCm39) I496N probably damaging Het
Cyp2f2 A G 7: 26,829,149 (GRCm39) N218S probably benign Het
D16Ertd472e A G 16: 78,343,392 (GRCm39) probably null Het
Dab2 A G 15: 6,459,351 (GRCm39) Q400R possibly damaging Het
Dapl1 A T 2: 59,326,906 (GRCm39) I51F probably benign Het
Drc7 G A 8: 95,800,960 (GRCm39) probably null Het
Etl4 A G 2: 20,811,219 (GRCm39) T1101A probably damaging Het
Fam83c C A 2: 155,671,971 (GRCm39) R488M possibly damaging Het
Fbxo42 A G 4: 140,927,840 (GRCm39) T707A probably damaging Het
Fcmr A T 1: 130,803,922 (GRCm39) probably null Het
Fer1l6 G C 15: 58,518,930 (GRCm39) K1687N probably damaging Het
Fgd4 G A 16: 16,292,893 (GRCm39) R275* probably null Het
Fxr2 G A 11: 69,532,139 (GRCm39) C87Y possibly damaging Het
Gja4 A T 4: 127,206,472 (GRCm39) I97N probably damaging Het
Gm136 A G 4: 34,750,919 (GRCm39) probably null Het
Gm14496 A G 2: 181,642,837 (GRCm39) D836G possibly damaging Het
Grm3 T A 5: 9,561,520 (GRCm39) T777S probably damaging Het
Guca2b A G 4: 119,514,912 (GRCm39) Y50H probably damaging Het
Herc2 C T 7: 55,786,415 (GRCm39) P1587S probably benign Het
Hmcn1 C T 1: 150,545,309 (GRCm39) S2766N probably benign Het
Idi2 T A 13: 9,009,455 (GRCm39) I224K probably damaging Het
Kmt2a A T 9: 44,735,666 (GRCm39) probably benign Het
Lonp2 A T 8: 87,440,078 (GRCm39) M693L possibly damaging Het
Megf8 G T 7: 25,046,172 (GRCm39) M1525I possibly damaging Het
Mgme1 T C 2: 144,121,018 (GRCm39) V276A possibly damaging Het
Mief2 G T 11: 60,622,234 (GRCm39) W268L probably damaging Het
Mpped1 C T 15: 83,676,191 (GRCm39) probably benign Het
Mreg T C 1: 72,231,356 (GRCm39) N34S probably benign Het
Myf6 T C 10: 107,330,534 (GRCm39) Y11C probably damaging Het
Myh9 C A 15: 77,655,367 (GRCm39) Q1196H probably benign Het
Myh9 A T 15: 77,660,099 (GRCm39) D56E probably benign Het
Myo5c A T 9: 75,184,357 (GRCm39) R949S probably benign Het
Ncapg2 TAA TA 12: 116,398,305 (GRCm39) probably null Het
Nfx1 T A 4: 40,977,004 (GRCm39) V226E probably benign Het
Nlrp10 T A 7: 108,523,737 (GRCm39) K581M possibly damaging Het
Nmd3 T G 3: 69,647,317 (GRCm39) I273S probably benign Het
Or4c3 A T 2: 89,852,314 (GRCm39) I32N possibly damaging Het
P4hb T C 11: 120,462,442 (GRCm39) E88G probably damaging Het
Pcnx3 A T 19: 5,715,773 (GRCm39) H1444Q probably benign Het
Pdia4 A T 6: 47,776,133 (GRCm39) F421L possibly damaging Het
Picalm T A 7: 89,840,459 (GRCm39) S538T probably damaging Het
Prb1c A G 6: 132,339,969 (GRCm39) probably null Het
Ptk7 C T 17: 46,884,460 (GRCm39) E757K possibly damaging Het
Rbm22 T G 18: 60,694,340 (GRCm39) C24W probably damaging Het
Rev3l A G 10: 39,682,658 (GRCm39) D288G probably damaging Het
Rgs18 T A 1: 144,629,791 (GRCm39) H156L probably benign Het
Rnf213 A G 11: 119,333,405 (GRCm39) I2871M probably damaging Het
Rrm2b A T 15: 37,945,328 (GRCm39) M137K probably damaging Het
Rrp12 A T 19: 41,857,224 (GRCm39) D1183E probably benign Het
Sacs G A 14: 61,441,277 (GRCm39) V1108M probably damaging Het
Scube2 A T 7: 109,442,421 (GRCm39) D270E possibly damaging Het
Serpina3a T A 12: 104,082,737 (GRCm39) F170Y probably damaging Het
Serpinb3b T C 1: 107,082,403 (GRCm39) E287G probably benign Het
Slamf8 C T 1: 172,412,186 (GRCm39) V130M probably damaging Het
Slc5a3 T C 16: 91,874,284 (GRCm39) S114P possibly damaging Het
Sos1 T A 17: 80,730,108 (GRCm39) probably null Het
Sox10 A T 15: 79,040,660 (GRCm39) D293E probably damaging Het
Sphk1 A G 11: 116,426,596 (GRCm39) D177G probably damaging Het
Sphkap T G 1: 83,256,121 (GRCm39) M543L probably benign Het
Syt13 A T 2: 92,783,760 (GRCm39) K343N probably damaging Het
Tatdn3 A G 1: 190,792,373 (GRCm39) M34T probably benign Het
Timd4 T G 11: 46,732,989 (GRCm39) V305G possibly damaging Het
Tnnc2 T C 2: 164,619,512 (GRCm39) I111V probably benign Het
Togaram2 C T 17: 72,004,846 (GRCm39) P301L probably benign Het
Trpc3 T C 3: 36,694,776 (GRCm39) N726S probably damaging Het
Tspear T A 10: 77,706,253 (GRCm39) L341H possibly damaging Het
Ugt1a5 T A 1: 88,093,805 (GRCm39) probably benign Het
Ulk3 A T 9: 57,500,443 (GRCm39) probably null Het
Unc5d T A 8: 29,250,777 (GRCm39) I297L probably benign Het
Usp20 A G 2: 30,908,830 (GRCm39) I804V probably benign Het
Usp22 G T 11: 61,052,144 (GRCm39) C278* probably null Het
Usp53 A T 3: 122,727,872 (GRCm39) N903K probably benign Het
V1rd19 T C 7: 23,702,812 (GRCm39) F93L probably benign Het
Zdbf2 T A 1: 63,343,493 (GRCm39) V624E possibly damaging Het
Zfyve16 A T 13: 92,645,528 (GRCm39) S1073T probably damaging Het
Zkscan8 T C 13: 21,710,765 (GRCm39) H115R possibly damaging Het
Other mutations in Ppp2r2b
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- CTTTCCCCAGGAACGACAGTCATC -3'
(R):5'- AGCCAATGAAGAGGCTCTATCCCAG -3'

Sequencing Primer
(F):5'- CGACAGTCATCTAGTAAGCTGC -3'
(R):5'- AATGGGACCCATCTCCAGTG -3'
Posted On 2014-04-24