Incidental Mutation 'IGL01622:Ppp2r1b'
ID 278618
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp2r1b
Ensembl Gene ENSMUSG00000032058
Gene Name protein phosphatase 2, regulatory subunit A, beta
Synonyms 2410091N08Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.567) question?
Stock # IGL01622
Quality Score
Status
Chromosome 9
Chromosomal Location 50767946-50810625 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 50789422 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 495 (V495D)
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 possibly damaging
Transcript: ENSMUST00000034560
AA Change: V495D

PolyPhen 2 Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000034560
Gene: ENSMUSG00000032058
AA Change: V495D

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 possibly damaging
Transcript: ENSMUST00000114437
AA Change: V495D

PolyPhen 2 Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000110080
Gene: ENSMUSG00000032058
AA Change: V495D

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 possibly damaging
Transcript: ENSMUST00000174628
AA Change: V495D

PolyPhen 2 Score 0.706 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000133404
Gene: ENSMUSG00000032058
AA Change: V495D

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 damaging
Transcript: ENSMUST00000175640
AA Change: V368D

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134740
Gene: ENSMUSG00000032058
AA Change: V368D

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 possibly damaging
Transcript: ENSMUST00000175645
AA Change: V450D

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000135871
Gene: ENSMUSG00000032058
AA Change: V450D

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 damaging
Transcript: ENSMUST00000176798
AA Change: V495D

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000135525
Gene: ENSMUSG00000032058
AA Change: V495D

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 damaging
Transcript: ENSMUST00000176349
AA Change: V431D

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000135758
Gene: ENSMUSG00000032058
AA Change: V431D

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 noncoding transcript
Transcript: ENSMUST00000177454
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176414
Predicted Effect probably benign
Transcript: ENSMUST00000176055
SMART Domains Protein: ENSMUSP00000135253
Gene: ENSMUSG00000032058

DomainStartEndE-ValueType
PDB:3DW8|D 1 51 1e-26 PDB
Coding Region Coverage
Validation Efficiency
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik G A 14: 35,532,024 (GRCm39) Q184* probably null Het
A1bg A C 15: 60,789,742 (GRCm39) I502S possibly damaging Het
Actl11 T C 9: 107,805,775 (GRCm39) S33P probably benign Het
Aftph G T 11: 20,659,632 (GRCm39) D730E probably damaging Het
Arhgap29 A G 3: 121,767,773 (GRCm39) probably benign Het
Brf1 T G 12: 112,924,795 (GRCm39) E643A probably benign Het
Caskin1 G T 17: 24,722,914 (GRCm39) probably null Het
Ccnjl T C 11: 43,476,154 (GRCm39) V259A probably benign Het
Ccser2 G T 14: 36,662,920 (GRCm39) T88K probably benign Het
Cdk17 T C 10: 93,074,824 (GRCm39) probably benign Het
Clec16a G A 16: 10,395,774 (GRCm39) S309N possibly damaging Het
Cpxm1 C A 2: 130,233,191 (GRCm39) A633S probably benign Het
Ctnnbl1 A T 2: 157,661,468 (GRCm39) N326I probably damaging Het
Cyp46a1 T C 12: 108,318,234 (GRCm39) V215A possibly damaging Het
Daxx A G 17: 34,132,454 (GRCm39) D528G probably benign Het
Dnah6 T C 6: 73,121,701 (GRCm39) Y1427C probably damaging Het
Dpy19l3 G A 7: 35,422,169 (GRCm39) T228I probably damaging Het
Fam131c C T 4: 141,109,761 (GRCm39) A131V possibly damaging Het
Fat1 A G 8: 45,482,592 (GRCm39) T3061A possibly damaging Het
Fgl2 T A 5: 21,578,175 (GRCm39) L154H possibly damaging Het
Fhod3 T A 18: 25,155,924 (GRCm39) I514K probably benign Het
Ficd G A 5: 113,876,622 (GRCm39) G266S probably damaging Het
Frem3 A G 8: 81,340,544 (GRCm39) T946A probably benign Het
Gan T A 8: 117,913,917 (GRCm39) V105D probably damaging Het
Garin5b A G 7: 4,761,722 (GRCm39) V330A probably benign Het
Gramd1c A G 16: 43,811,061 (GRCm39) V221A probably damaging Het
Hacd1 A G 2: 14,040,667 (GRCm39) V196A probably benign Het
Kcna6 C A 6: 126,715,576 (GRCm39) V438L probably damaging Het
Kif14 T C 1: 136,425,094 (GRCm39) probably benign Het
Klhl41 T C 2: 69,508,582 (GRCm39) V512A probably benign Het
Lrfn1 A G 7: 28,166,111 (GRCm39) T502A probably damaging Het
Notch3 A T 17: 32,377,844 (GRCm39) F105I possibly damaging Het
Or4b13 T G 2: 90,082,953 (GRCm39) K126N probably damaging Het
Or5m10 A T 2: 85,717,306 (GRCm39) H54L probably benign Het
P3h1 C T 4: 119,092,480 (GRCm39) T171I probably damaging Het
Pcdhb1 A G 18: 37,399,366 (GRCm39) E439G possibly damaging Het
Pik3c3 A T 18: 30,423,578 (GRCm39) K225* probably null Het
Pik3c3 A G 18: 30,426,102 (GRCm39) probably benign Het
Pik3r5 T A 11: 68,377,452 (GRCm39) probably null Het
Pnpt1 A C 11: 29,098,272 (GRCm39) probably benign Het
Rbfox3 C A 11: 118,396,440 (GRCm39) probably benign Het
Sec14l2 G A 11: 4,053,966 (GRCm39) P234S possibly damaging Het
Sec16a A C 2: 26,328,915 (GRCm39) D1033E probably benign Het
Septin14 A G 5: 129,763,019 (GRCm39) V357A probably damaging Het
Sf3a3 C T 4: 124,612,136 (GRCm39) T131I possibly damaging Het
Snrpa A T 7: 26,892,395 (GRCm39) M55K probably benign Het
Swt1 G T 1: 151,286,760 (GRCm39) T244N probably benign Het
Tbl1xr1 A G 3: 22,246,238 (GRCm39) T253A probably benign Het
Tst G T 15: 78,283,964 (GRCm39) R288S probably benign Het
Vmn2r60 A G 7: 41,785,910 (GRCm39) I238V probably benign Het
Zbtb14 A G 17: 69,695,184 (GRCm39) K294R probably benign Het
Zfp710 T A 7: 79,730,871 (GRCm39) V16E probably damaging Het
Zfpm2 A G 15: 40,965,320 (GRCm39) T602A probably benign Het
Zfr2 G A 10: 81,087,193 (GRCm39) M850I probably benign Het
Other mutations in Ppp2r1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R1219:Ppp2r1b UTSW 9 50,778,621 (GRCm39) splice site probably benign
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
Posted On 2015-04-16