Incidental Mutation 'R0047:Ppp2r1b'
ID 32967
Institutional Source Beutler Lab
Gene Symbol Ppp2r1b
Ensembl Gene ENSMUSG00000032058
Gene Name protein phosphatase 2, regulatory subunit A, beta
Synonyms 2410091N08Rik
MMRRC Submission 038341-MU
Accession Numbers

Ncbi RefSeq: NM_001034085.1, NM_028614.2; MGI:1920949

Essential gene? Possibly essential (E-score: 0.640) question?
Stock # R0047 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 9
Chromosomal Location 50845301-50894229 bp(+) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 50861573 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 117 (R117*)
Ref Sequence ENSEMBL: ENSMUSP00000135525 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034560] [ENSMUST00000114437] [ENSMUST00000174628] [ENSMUST00000175640] [ENSMUST00000175645] [ENSMUST00000175926] [ENSMUST00000176349] [ENSMUST00000176798]
AlphaFold Q7TNP2
Predicted Effect probably null
Transcript: ENSMUST00000034560
AA Change: R117*
SMART Domains Protein: ENSMUSP00000034560
Gene: ENSMUSG00000032058
AA Change: R117*

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 null
Transcript: ENSMUST00000114437
AA Change: R117*
SMART Domains Protein: ENSMUSP00000110080
Gene: ENSMUSG00000032058
AA Change: R117*

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 noncoding transcript
Transcript: ENSMUST00000174555
Predicted Effect probably null
Transcript: ENSMUST00000174628
AA Change: R117*
SMART Domains Protein: ENSMUSP00000133404
Gene: ENSMUSG00000032058
AA Change: R117*

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 null
Transcript: ENSMUST00000175645
AA Change: R117*
SMART Domains Protein: ENSMUSP00000135871
Gene: ENSMUSG00000032058
AA Change: R117*

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 null
Transcript: ENSMUST00000176349
AA Change: R53*
SMART Domains Protein: ENSMUSP00000135758
Gene: ENSMUSG00000032058
AA Change: R53*

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 null
Transcript: ENSMUST00000176798
AA Change: R117*
SMART Domains Protein: ENSMUSP00000135525
Gene: ENSMUSG00000032058
AA Change: R117*

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 100% (98/98)
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: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 138,066,264 (GRCm38) T405A probably damaging Het
4932438A13Rik T A 3: 36,908,192 (GRCm38) L481M possibly damaging Het
Acer1 A T 17: 56,955,624 (GRCm38) D175E possibly damaging Het
Acsf2 T C 11: 94,569,342 (GRCm38) I395V probably benign Het
Adamts9 G A 6: 92,905,306 (GRCm38) probably benign Het
Amigo3 T C 9: 108,054,658 (GRCm38) S427P probably benign Het
Ankrd35 A G 3: 96,684,063 (GRCm38) K555R probably benign Het
Arhgap35 A T 7: 16,561,992 (GRCm38) H1049Q probably benign Het
Arhgef5 G A 6: 43,265,621 (GRCm38) probably null Het
Arid4a T G 12: 71,075,419 (GRCm38) L858W probably damaging Het
Bbox1 A G 2: 110,268,302 (GRCm38) F310S probably damaging Het
Bhlhe22 T C 3: 18,055,569 (GRCm38) L261P probably damaging Het
Bmper T A 9: 23,406,686 (GRCm38) C534S probably damaging Het
Cacna1d T G 14: 30,346,790 (GRCm38) probably benign Het
Camk2g G A 14: 20,771,068 (GRCm38) probably benign Het
Capn12 G A 7: 28,890,387 (GRCm38) probably null Het
Cdkl4 T G 17: 80,550,845 (GRCm38) N115T probably benign Het
Chchd1 T C 14: 20,704,163 (GRCm38) S48P possibly damaging Het
Chia1 G T 3: 106,115,257 (GRCm38) C49F probably damaging Het
Cnot7 A G 8: 40,495,921 (GRCm38) probably benign Het
Crh T C 3: 19,694,037 (GRCm38) E147G probably damaging Het
Cux1 T C 5: 136,363,253 (GRCm38) probably benign Het
Cyp2b19 T A 7: 26,766,826 (GRCm38) D351E probably benign Het
Dctn1 G T 6: 83,182,632 (GRCm38) G31* probably null Het
Duox1 T A 2: 122,346,641 (GRCm38) probably benign Het
Egflam T G 15: 7,253,430 (GRCm38) E382A possibly damaging Het
Ext1 T C 15: 53,345,146 (GRCm38) N73S probably benign Het
Ffar4 A G 19: 38,114,004 (GRCm38) probably benign Het
Glg1 A T 8: 111,165,582 (GRCm38) M866K probably damaging Het
Golm1 T A 13: 59,645,100 (GRCm38) H197L probably benign Het
Gtse1 A G 15: 85,862,378 (GRCm38) K132E probably damaging Het
Gxylt2 A T 6: 100,733,378 (GRCm38) probably benign Het
Hrc T A 7: 45,336,689 (GRCm38) S421R probably benign Het
Ighg2c T A 12: 113,288,168 (GRCm38) probably benign Het
Ihh A G 1: 74,946,591 (GRCm38) I245T probably benign Het
Ilf3 T A 9: 21,388,714 (GRCm38) M65K possibly damaging Het
Insr A G 8: 3,202,947 (GRCm38) V404A probably damaging Het
Irak2 G A 6: 113,678,738 (GRCm38) V367I probably benign Het
Irak2 G T 6: 113,672,953 (GRCm38) probably benign Het
Kat7 A C 11: 95,300,208 (GRCm38) N119K probably benign Het
Kif9 A G 9: 110,485,038 (GRCm38) I33V probably benign Het
Klf17 A G 4: 117,761,032 (GRCm38) Y43H probably benign Het
Kng2 T A 16: 22,987,563 (GRCm38) T629S possibly damaging Het
Lama1 A T 17: 67,795,186 (GRCm38) probably benign Het
Lamb1 T C 12: 31,278,601 (GRCm38) I188T possibly damaging Het
Lpp T A 16: 24,661,800 (GRCm38) probably benign Het
Lrp12 T C 15: 39,878,239 (GRCm38) E360G probably damaging Het
Mark2 A C 19: 7,283,577 (GRCm38) probably benign Het
Mmp3 T C 9: 7,451,910 (GRCm38) probably benign Het
Mthfd1l T A 10: 3,978,727 (GRCm38) probably benign Het
Mtr A T 13: 12,222,226 (GRCm38) S569T probably damaging Het
Myh13 T A 11: 67,367,237 (GRCm38) S1752T probably benign Het
Myo5a T A 9: 75,156,207 (GRCm38) L565H probably damaging Het
Nanos3 C T 8: 84,176,134 (GRCm38) R133Q probably damaging Het
Nfkb1 A T 3: 135,595,053 (GRCm38) L72* probably null Het
Numa1 A G 7: 102,009,453 (GRCm38) K296E probably damaging Het
Olfr1477 A G 19: 13,502,589 (GRCm38) E82G probably benign Het
Olfr186 T A 16: 59,027,224 (GRCm38) M228L probably benign Het
Olfr201 C T 16: 59,269,211 (GRCm38) G152D probably damaging Het
Olfr508 A G 7: 108,630,552 (GRCm38) I187V probably benign Het
Olfr613 A T 7: 103,552,322 (GRCm38) Y179F probably damaging Het
Pcdhb5 A T 18: 37,321,268 (GRCm38) I234F possibly damaging Het
Pgm5 T A 19: 24,684,556 (GRCm38) I545F probably damaging Het
Pla2g2c T C 4: 138,743,590 (GRCm38) probably benign Het
Pnpla7 A T 2: 25,011,606 (GRCm38) E548V probably damaging Het
Ppm1m C A 9: 106,196,696 (GRCm38) E273* probably null Het
Rabgap1l G A 1: 160,231,789 (GRCm38) probably benign Het
Rapgef6 T A 11: 54,546,378 (GRCm38) M49K possibly damaging Het
Rhox4f A C X: 37,607,469 (GRCm38) V15G probably benign Het
Rnf219 T A 14: 104,503,344 (GRCm38) probably null Het
Rtel1 T G 2: 181,323,405 (GRCm38) I146M probably damaging Het
Sdr9c7 A T 10: 127,903,672 (GRCm38) M219L probably benign Het
Serpina3g T A 12: 104,240,284 (GRCm38) S115T possibly damaging Het
Serpinb1a A T 13: 32,850,276 (GRCm38) L44Q probably damaging Het
Slc13a4 A G 6: 35,287,362 (GRCm38) I190T possibly damaging Het
Slc46a2 A G 4: 59,914,392 (GRCm38) L177P probably damaging Het
Slc47a2 C T 11: 61,336,242 (GRCm38) V167M possibly damaging Het
Snrnp200 C T 2: 127,234,954 (GRCm38) probably benign Het
Snx13 C A 12: 35,101,124 (GRCm38) probably benign Het
Snx25 C T 8: 46,041,365 (GRCm38) A828T probably damaging Het
Spic A G 10: 88,675,941 (GRCm38) L151P probably damaging Het
Ssu2 G A 6: 112,374,820 (GRCm38) H315Y probably damaging Het
Stk32a T C 18: 43,313,378 (GRCm38) probably benign Het
Tbx3 A T 5: 119,680,446 (GRCm38) E382V probably damaging Het
Tcaf2 A G 6: 42,629,613 (GRCm38) I469T probably benign Het
Tln2 A G 9: 67,240,672 (GRCm38) probably benign Het
Top2a T A 11: 98,997,856 (GRCm38) I1260L probably benign Het
Treml1 C A 17: 48,364,980 (GRCm38) S91* probably null Het
Trim26 T C 17: 36,857,864 (GRCm38) probably benign Het
Trmt11 T C 10: 30,535,243 (GRCm38) N418S probably benign Het
Ttf1 A G 2: 29,084,655 (GRCm38) Y801C probably damaging Het
Usp34 C T 11: 23,464,403 (GRCm38) A2782V probably benign Het
Vmn2r77 T C 7: 86,811,650 (GRCm38) V728A probably benign Het
Vps4a T C 8: 107,036,701 (GRCm38) L29P probably damaging Het
Wdfy3 A G 5: 101,944,033 (GRCm38) I480T probably damaging Het
Wdr41 A G 13: 95,010,287 (GRCm38) I197V probably damaging Het
Ywhag A T 5: 135,911,299 (GRCm38) V147E probably damaging Het
Zan A G 5: 137,403,656 (GRCm38) M4058T unknown Het
Zfp236 C T 18: 82,680,692 (GRCm38) C88Y probably damaging Het
Other mutations in Ppp2r1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01622:Ppp2r1b APN 9 50,878,122 (GRCm38) missense probably damaging 0.99
IGL01623:Ppp2r1b APN 9 50,878,122 (GRCm38) missense probably damaging 0.99
IGL02120:Ppp2r1b APN 9 50,861,769 (GRCm38) splice site probably benign
IGL02158:Ppp2r1b APN 9 50,861,609 (GRCm38) missense probably benign 0.02
IGL02706:Ppp2r1b APN 9 50,878,834 (GRCm38) missense possibly damaging 0.83
IGL02801:Ppp2r1b APN 9 50,878,827 (GRCm38) missense probably benign 0.00
IGL02943:Ppp2r1b APN 9 50,883,585 (GRCm38) missense probably damaging 1.00
R0047:Ppp2r1b UTSW 9 50,861,573 (GRCm38) nonsense probably null
R0211:Ppp2r1b UTSW 9 50,861,625 (GRCm38) missense probably benign 0.00
R0603:Ppp2r1b UTSW 9 50,861,685 (GRCm38) missense probably damaging 1.00
R1219:Ppp2r1b UTSW 9 50,867,321 (GRCm38) splice site probably benign
R1513:Ppp2r1b UTSW 9 50,870,145 (GRCm38) missense probably damaging 1.00
R1545:Ppp2r1b UTSW 9 50,862,425 (GRCm38) missense possibly damaging 0.68
R1997:Ppp2r1b UTSW 9 50,867,371 (GRCm38) missense possibly damaging 0.71
R1998:Ppp2r1b UTSW 9 50,883,585 (GRCm38) missense probably damaging 1.00
R2153:Ppp2r1b UTSW 9 50,866,554 (GRCm38) missense probably damaging 1.00
R3829:Ppp2r1b UTSW 9 50,862,494 (GRCm38) missense probably benign 0.02
R4672:Ppp2r1b UTSW 9 50,867,719 (GRCm38) missense probably damaging 0.99
R5299:Ppp2r1b UTSW 9 50,857,040 (GRCm38) missense probably benign 0.04
R5376:Ppp2r1b UTSW 9 50,866,928 (GRCm38) missense possibly damaging 0.78
R5504:Ppp2r1b UTSW 9 50,858,887 (GRCm38) missense probably damaging 1.00
R5700:Ppp2r1b UTSW 9 50,878,157 (GRCm38) missense probably damaging 1.00
R5771:Ppp2r1b UTSW 9 50,866,832 (GRCm38) missense probably damaging 0.98
R7547:Ppp2r1b UTSW 9 50,862,462 (GRCm38) missense probably benign 0.06
R7626:Ppp2r1b UTSW 9 50,878,176 (GRCm38) missense possibly damaging 0.91
R8498:Ppp2r1b UTSW 9 50,866,894 (GRCm38) nonsense probably null
R9096:Ppp2r1b UTSW 9 50,866,556 (GRCm38) missense probably benign 0.03
R9201:Ppp2r1b UTSW 9 50,878,147 (GRCm38) missense probably benign 0.02
Z1088:Ppp2r1b UTSW 9 50,866,911 (GRCm38) missense probably damaging 1.00
Z1176:Ppp2r1b UTSW 9 50,873,645 (GRCm38) frame shift probably null
Predicted Primers PCR Primer
(F):5'- CATCTGGGAATTGCCATCTGGGAC -3'
(R):5'- TCTGGGATAGCAAACGCTGAACAAG -3'

Sequencing Primer
(F):5'- TCTACAGAAGTCGTGTCTTCAG -3'
(R):5'- GCCACATGCAGACGTGC -3'
Posted On 2013-05-09