Incidental Mutation 'R1219:Ppp2r1b'
ID 99933
Institutional Source Beutler Lab
Gene Symbol Ppp2r1b
Ensembl Gene ENSMUSG00000032058
Gene Name protein phosphatase 2, regulatory subunit A, beta
Synonyms 2410091N08Rik
MMRRC Submission 039288-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.567) question?
Stock # R1219 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 50767946-50810625 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 50778621 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135525 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034560] [ENSMUST00000114437] [ENSMUST00000174628] [ENSMUST00000175640] [ENSMUST00000175645] [ENSMUST00000175926] [ENSMUST00000176798] [ENSMUST00000176349] [ENSMUST00000176055]
AlphaFold Q7TNP2
Predicted Effect probably benign
Transcript: ENSMUST00000034560
SMART Domains Protein: ENSMUSP00000034560
Gene: ENSMUSG00000032058

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
Pfam:HEAT 178 208 2.2e-6 PFAM
Pfam:HEAT_EZ 182 243 9.9e-6 PFAM
Pfam:HEAT 295 325 5.9e-6 PFAM
Pfam:HEAT_2 378 479 1.1e-10 PFAM
Pfam:HEAT_2 495 596 5.1e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114437
SMART Domains Protein: ENSMUSP00000110080
Gene: ENSMUSG00000032058

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
Pfam:HEAT 178 208 1.6e-6 PFAM
Pfam:HEAT_EZ 180 243 7.3e-6 PFAM
Pfam:HEAT 217 247 4.3e-5 PFAM
Pfam:HEAT 295 325 4.2e-6 PFAM
Pfam:HEAT_2 378 479 9e-11 PFAM
Pfam:HEAT_2 494 597 4.2e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174628
SMART Domains Protein: ENSMUSP00000133404
Gene: ENSMUSG00000032058

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
Pfam:HEAT 178 208 4.6e-6 PFAM
Pfam:HEAT 217 247 4.5e-5 PFAM
Pfam:HEAT 295 325 4.3e-6 PFAM
Pfam:HEAT_2 378 479 1.7e-11 PFAM
low complexity region 643 655 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000175640
SMART Domains Protein: ENSMUSP00000134740
Gene: ENSMUSG00000032058

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
Pfam:HEAT 129 159 5.7e-5 PFAM
Pfam:HEAT 168 198 4e-6 PFAM
Pfam:HEAT_2 251 352 6.3e-11 PFAM
Pfam:HEAT_2 365 470 3e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000175645
SMART Domains Protein: ENSMUSP00000135871
Gene: ENSMUSG00000032058

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
Pfam:HEAT_EZ 173 243 8e-6 PFAM
Pfam:HEAT 178 208 1.8e-6 PFAM
Pfam:HEAT 217 247 4.9e-5 PFAM
Pfam:HEAT 295 325 4.8e-6 PFAM
Pfam:HEAT_2 449 552 3.9e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000175926
SMART Domains Protein: ENSMUSP00000134886
Gene: ENSMUSG00000032058

DomainStartEndE-ValueType
SCOP:d1b3ua_ 14 104 4e-15 SMART
PDB:3DW8|D 22 104 4e-45 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000176798
SMART Domains Protein: ENSMUSP00000135525
Gene: ENSMUSG00000032058

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
Pfam:HEAT 178 208 2.3e-6 PFAM
Pfam:HEAT_EZ 182 243 1e-5 PFAM
Pfam:HEAT 295 325 6e-6 PFAM
Pfam:HEAT_2 378 479 1.1e-10 PFAM
Pfam:HEAT_2 495 596 5.2e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176349
SMART Domains Protein: ENSMUSP00000135758
Gene: ENSMUSG00000032058

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
Pfam:HEAT 114 144 2e-6 PFAM
Pfam:HEAT_EZ 116 179 8.7e-6 PFAM
Pfam:HEAT 153 183 5.5e-5 PFAM
Pfam:HEAT 231 261 5.3e-6 PFAM
Pfam:HEAT_2 314 415 9.3e-11 PFAM
Pfam:HEAT_2 430 532 4.4e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176055
SMART Domains Protein: ENSMUSP00000135253
Gene: ENSMUSG00000032058

DomainStartEndE-ValueType
PDB:3DW8|D 1 51 1e-26 PDB
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 98% (44/45)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a constant regulatory subunit of protein phosphatase 2. 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 constant regulatory subunit A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. This gene encodes a beta isoform of the constant regulatory subunit A. Mutations in this gene have been associated with some lung and colon cancers. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]
Allele List at MGI

All alleles(3) : Targeted(2) Gene trapped(1)

Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atad2 A G 15: 57,998,307 (GRCm39) S22P probably benign Het
Atrn A T 2: 130,862,927 (GRCm39) T1336S possibly damaging Het
Bltp1 T A 3: 37,000,619 (GRCm39) L1266* probably null Het
Car9 G T 4: 43,512,439 (GRCm39) probably null Het
Ccdc113 T C 8: 96,264,895 (GRCm39) probably benign Het
Ccdc158 A G 5: 92,802,040 (GRCm39) probably benign Het
Ciao3 T C 17: 25,994,075 (GRCm39) I41T probably damaging Het
Dcun1d3 G T 7: 119,458,631 (GRCm39) Q135K probably damaging Het
Dnah7b A C 1: 46,379,280 (GRCm39) E3671D probably benign Het
Eea1 A G 10: 95,846,623 (GRCm39) probably benign Het
Entrep3 T C 3: 89,091,155 (GRCm39) V42A probably damaging Het
Gdf10 G A 14: 33,654,710 (GRCm39) A406T probably benign Het
Gm5111 A G 6: 48,567,328 (GRCm39) probably benign Het
Golga3 G T 5: 110,332,215 (GRCm39) E50* probably null Het
Junb T C 8: 85,704,268 (GRCm39) E264G probably damaging Het
Kash5 A G 7: 44,838,832 (GRCm39) probably benign Het
Kifc1 G A 17: 34,103,685 (GRCm39) R195C probably benign Het
Krt18 T C 15: 101,939,723 (GRCm39) probably benign Het
Man1a G A 10: 53,795,249 (GRCm39) probably benign Het
Mapkbp1 G T 2: 119,849,831 (GRCm39) G768* probably null Het
Mybpc2 A C 7: 44,165,458 (GRCm39) probably null Het
Nectin3 A T 16: 46,275,042 (GRCm39) C238* probably null Het
Ntf3 G T 6: 126,079,174 (GRCm39) R98S possibly damaging Het
Nup153 T G 13: 46,840,695 (GRCm39) Q971P probably benign Het
Nup155 A G 15: 8,146,822 (GRCm39) T221A possibly damaging Het
Prkd1 A T 12: 50,435,125 (GRCm39) V534E probably damaging Het
Rabep2 A G 7: 126,028,799 (GRCm39) E26G probably damaging Het
Rnf213 C A 11: 119,327,003 (GRCm39) N1663K probably damaging Het
Slc1a1 G A 19: 28,882,146 (GRCm39) probably benign Het
Slc36a4 T C 9: 15,634,832 (GRCm39) Y125H probably damaging Het
Slc6a11 G A 6: 114,202,772 (GRCm39) probably benign Het
Stab1 C T 14: 30,862,578 (GRCm39) probably null Het
Sumf2 G T 5: 129,883,613 (GRCm39) A164S probably benign Het
Sv2b T C 7: 74,786,160 (GRCm39) D420G probably benign Het
Ube2v1 T C 2: 167,459,831 (GRCm39) D56G probably benign Het
Ung A G 5: 114,270,228 (GRCm39) probably benign Het
Vcan T C 13: 89,828,023 (GRCm39) Y2181C probably damaging Het
Vmn1r238 G A 18: 3,123,135 (GRCm39) T93I possibly damaging Het
Vmn2r14 A C 5: 109,372,440 (GRCm39) S17A probably benign Het
Vmn2r25 A G 6: 123,816,282 (GRCm39) V433A probably benign Het
Zfp36l2 A G 17: 84,495,070 (GRCm39) probably null Het
Zfp646 G A 7: 127,482,292 (GRCm39) G1490S probably benign Het
Zfp839 A G 12: 110,834,707 (GRCm39) D654G possibly damaging Het
Other mutations in Ppp2r1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01622:Ppp2r1b APN 9 50,789,422 (GRCm39) missense probably damaging 0.99
IGL01623:Ppp2r1b APN 9 50,789,422 (GRCm39) missense probably damaging 0.99
IGL02120:Ppp2r1b APN 9 50,773,069 (GRCm39) splice site probably benign
IGL02158:Ppp2r1b APN 9 50,772,909 (GRCm39) missense probably benign 0.02
IGL02706:Ppp2r1b APN 9 50,790,134 (GRCm39) missense possibly damaging 0.83
IGL02801:Ppp2r1b APN 9 50,790,127 (GRCm39) missense probably benign 0.00
IGL02943:Ppp2r1b APN 9 50,794,885 (GRCm39) missense probably damaging 1.00
R0047:Ppp2r1b UTSW 9 50,772,873 (GRCm39) nonsense probably null
R0047:Ppp2r1b UTSW 9 50,772,873 (GRCm39) nonsense probably null
R0211:Ppp2r1b UTSW 9 50,772,925 (GRCm39) missense probably benign 0.00
R0603:Ppp2r1b UTSW 9 50,772,985 (GRCm39) missense probably damaging 1.00
R1513:Ppp2r1b UTSW 9 50,781,445 (GRCm39) missense probably damaging 1.00
R1545:Ppp2r1b UTSW 9 50,773,725 (GRCm39) missense possibly damaging 0.68
R1997:Ppp2r1b UTSW 9 50,778,671 (GRCm39) missense possibly damaging 0.71
R1998:Ppp2r1b UTSW 9 50,794,885 (GRCm39) missense probably damaging 1.00
R2153:Ppp2r1b UTSW 9 50,777,854 (GRCm39) missense probably damaging 1.00
R3829:Ppp2r1b UTSW 9 50,773,794 (GRCm39) missense probably benign 0.02
R4672:Ppp2r1b UTSW 9 50,779,019 (GRCm39) missense probably damaging 0.99
R5299:Ppp2r1b UTSW 9 50,768,340 (GRCm39) missense probably benign 0.04
R5376:Ppp2r1b UTSW 9 50,778,228 (GRCm39) missense possibly damaging 0.78
R5504:Ppp2r1b UTSW 9 50,770,187 (GRCm39) missense probably damaging 1.00
R5700:Ppp2r1b UTSW 9 50,789,457 (GRCm39) missense probably damaging 1.00
R5771:Ppp2r1b UTSW 9 50,778,132 (GRCm39) missense probably damaging 0.98
R7547:Ppp2r1b UTSW 9 50,773,762 (GRCm39) missense probably benign 0.06
R7626:Ppp2r1b UTSW 9 50,789,476 (GRCm39) missense possibly damaging 0.91
R8498:Ppp2r1b UTSW 9 50,778,194 (GRCm39) nonsense probably null
R9096:Ppp2r1b UTSW 9 50,777,856 (GRCm39) missense probably benign 0.03
R9201:Ppp2r1b UTSW 9 50,789,447 (GRCm39) missense probably benign 0.02
Z1088:Ppp2r1b UTSW 9 50,778,211 (GRCm39) missense probably damaging 1.00
Z1176:Ppp2r1b UTSW 9 50,784,945 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- TGAGTCCACGCAGCAGCATTTC -3'
(R):5'- CGTCTGTAGTAACAGCTATGCGCC -3'

Sequencing Primer
(F):5'- ATGGCACCAGCATGGCAG -3'
(R):5'- AGCTCTACAGTGCAACGC -3'
Posted On 2014-01-15