Incidental Mutation 'IGL02610:Ppp2r2b'
ID300460
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp2r2b
Ensembl Gene ENSMUSG00000024500
Gene Nameprotein phosphatase 2, regulatory subunit B, beta
SynonymsSCA12, 6330404L05Rik, 2900026H06Rik, E130009M08Rik, PR55-BETA, PP2A-PR55B
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02610
Quality Score
Status
Chromosome18
Chromosomal Location42637432-43059471 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 42648775 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113411 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025377] [ENSMUST00000117687] [ENSMUST00000120632]
Predicted Effect probably benign
Transcript: ENSMUST00000025377
SMART Domains Protein: ENSMUSP00000025377
Gene: ENSMUSG00000024500

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
Predicted Effect probably benign
Transcript: ENSMUST00000117687
SMART Domains Protein: ENSMUSP00000113731
Gene: ENSMUSG00000024500

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000113411
Gene: ENSMUSG00000024500

DomainStartEndE-ValueType
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Armc8 T C 9: 99,527,069 probably benign Het
Ccdc93 T G 1: 121,492,971 V527G probably benign Het
Ctcfl C A 2: 173,106,026 probably benign Het
Dmd T C X: 83,664,156 S359P probably damaging Het
Drc3 T C 11: 60,370,593 F190S probably benign Het
Dync1h1 A T 12: 110,659,232 K3943* probably null Het
Dzip3 A G 16: 48,951,653 V551A probably damaging Het
Ep300 T A 15: 81,601,522 L237M unknown Het
Gab1 A G 8: 80,800,099 probably null Het
Gm6430 G A 1: 97,024,835 noncoding transcript Het
Gm8765 T C 13: 50,701,712 V462A possibly damaging Het
Ighv16-1 A T 12: 114,069,113 V23E probably damaging Het
Ikbkb T A 8: 22,675,072 probably null Het
Ncr1 A T 7: 4,338,133 N41I probably benign Het
Nfkbib T C 7: 28,759,849 D319G probably damaging Het
Nkain3 T C 4: 20,469,459 E85G probably damaging Het
Olfr555 G A 7: 102,659,567 V249M probably benign Het
Pip5k1c C A 10: 81,317,321 probably null Het
Rgs11 G A 17: 26,207,631 V279I probably benign Het
Rhod A G 19: 4,426,175 F183L probably damaging Het
Slc35f3 A T 8: 126,321,217 T99S probably damaging Het
Spock3 A G 8: 63,345,737 Y264C probably damaging Het
Trnt1 T C 6: 106,778,818 F278S possibly damaging Het
Ush2a T A 1: 188,444,466 Y1276N probably damaging Het
Veph1 A G 3: 66,172,167 L309P probably damaging Het
Vmn1r7 G T 6: 57,025,052 F74L probably benign Het
Vsnl1 C T 12: 11,332,071 W103* probably null Het
Other mutations in Ppp2r2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00825:Ppp2r2b APN 18 42645775 missense probably damaging 0.99
IGL01999:Ppp2r2b APN 18 42645723 utr 3 prime probably benign
IGL02733:Ppp2r2b APN 18 42648728 missense possibly damaging 0.96
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 splice site probably null
R7521:Ppp2r2b UTSW 18 43059177 missense probably benign
R7831:Ppp2r2b UTSW 18 42701532 missense probably benign
R8405:Ppp2r2b UTSW 18 42645740 missense probably benign 0.00
R8486:Ppp2r2b UTSW 18 42898804 missense probably benign 0.17
Z1177:Ppp2r2b UTSW 18 42648693 missense probably benign 0.04
Z1177:Ppp2r2b UTSW 18 42688423 missense probably damaging 1.00
Posted On2015-04-16