Incidental Mutation 'R2321:Ppp1r2'
ID 245658
Institutional Source Beutler Lab
Gene Symbol Ppp1r2
Ensembl Gene ENSMUSG00000047714
Gene Name protein phosphatase 1, regulatory inhibitor subunit 2
Synonyms 0610025N14Rik, I-2, 4930440J04Rik, 2310007G06Rik, 5430408E15Rik
MMRRC Submission 040313-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.965) question?
Stock # R2321 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 31070359-31094095 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 31084121 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000110888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060188] [ENSMUST00000115233]
AlphaFold Q9DCL8
Predicted Effect probably null
Transcript: ENSMUST00000060188
SMART Domains Protein: ENSMUSP00000060118
Gene: ENSMUSG00000047714

DomainStartEndE-ValueType
Pfam:IPP-2 46 174 6.6e-46 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000115233
SMART Domains Protein: ENSMUSP00000110888
Gene: ENSMUSG00000047714

DomainStartEndE-ValueType
Pfam:IPP-2 43 175 1.4e-61 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183720
Meta Mutation Damage Score 0.9498 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 100% (39/39)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Protein phosphatase-1 (PP1) is one of the main eukaryotic serine/threonine phosphatases. The protein encoded by this gene binds to the catalytic subunit of PP1, strongly inhibiting its activity. Ten related pseudogenes have been found throughout the human genome. Several splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
PHENOTYPE: Homozygous null mice die during organogenesis. Heterozygous null mice display responses in behavioral assays suggesting enhanced memory retention. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 C T 6: 128,557,349 (GRCm39) A115T probably benign Het
Abcf2 A T 5: 24,772,251 (GRCm39) Y492* probably null Het
Adcy9 A G 16: 4,106,132 (GRCm39) V994A probably damaging Het
Arhgef40 T C 14: 52,231,733 (GRCm39) probably benign Het
Bhlha15 T C 5: 144,128,014 (GRCm39) L42P probably damaging Het
Clca4b C A 3: 144,638,134 (GRCm39) A43S probably benign Het
Cpq A G 15: 33,594,291 (GRCm39) H434R probably benign Het
Crybg2 A G 4: 133,801,822 (GRCm39) E994G probably benign Het
Dcaf1 T C 9: 106,715,672 (GRCm39) L263S probably benign Het
Dnajc12 G T 10: 63,242,990 (GRCm39) probably benign Het
Fbxo32 T C 15: 58,054,689 (GRCm39) I215V possibly damaging Het
Krtap17-1 T C 11: 99,884,746 (GRCm39) D7G unknown Het
Men1 A G 19: 6,389,868 (GRCm39) D466G possibly damaging Het
Myh15 T A 16: 48,933,436 (GRCm39) F624I possibly damaging Het
Ncam1 A C 9: 49,456,132 (GRCm39) probably benign Het
Or2y1d A G 11: 49,322,107 (GRCm39) N268S probably benign Het
Otol1 T A 3: 69,925,858 (GRCm39) L11* probably null Het
Plekhg4 T C 8: 106,104,172 (GRCm39) S447P probably benign Het
Pnma8b G T 7: 16,679,490 (GRCm39) R158L unknown Het
Rad51ap2 G A 12: 11,507,058 (GRCm39) G327R probably damaging Het
Rbm26 T C 14: 105,390,863 (GRCm39) T208A unknown Het
Reln T C 5: 22,120,018 (GRCm39) Y2878C probably damaging Het
Rnps1 T A 17: 24,641,142 (GRCm39) F181I probably damaging Het
Senp6 A C 9: 80,031,022 (GRCm39) I575L possibly damaging Het
Serpinh1 T C 7: 98,995,592 (GRCm39) D330G probably damaging Het
Slamf9 G T 1: 172,304,980 (GRCm39) C198F probably damaging Het
Slc22a13 A T 9: 119,024,694 (GRCm39) V261D possibly damaging Het
Slc26a4 A G 12: 31,590,543 (GRCm39) V370A probably damaging Het
Tasp1 A G 2: 139,899,332 (GRCm39) M7T probably benign Het
Tet2 T C 3: 133,192,100 (GRCm39) N778S possibly damaging Het
Tm9sf4 T A 2: 153,046,506 (GRCm39) Y582N probably damaging Het
Tmem131l T A 3: 83,843,330 (GRCm39) H508L probably damaging Het
Tmem71 T G 15: 66,423,849 (GRCm39) D139A possibly damaging Het
Uroc1 A G 6: 90,324,229 (GRCm39) R418G possibly damaging Het
Wdr64 A C 1: 175,622,653 (GRCm39) K810T possibly damaging Het
Zgrf1 C A 3: 127,356,056 (GRCm39) Y427* probably null Het
Other mutations in Ppp1r2
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4531001:Ppp1r2 UTSW 16 31,077,279 (GRCm39) missense probably damaging 1.00
R4573:Ppp1r2 UTSW 16 31,079,455 (GRCm39) missense possibly damaging 0.85
R6230:Ppp1r2 UTSW 16 31,079,418 (GRCm39) missense possibly damaging 0.82
R7113:Ppp1r2 UTSW 16 31,073,536 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGTATCAGCAGCTAACAACCATCTAG -3'
(R):5'- AGGCCAGTTAAAGTCTAAGTATGTC -3'

Sequencing Primer
(F):5'- GTAGATCATCAACTAGCACTC -3'
(R):5'- GGAGTGTCTGATATGAATTATGGAAC -3'
Posted On 2014-10-30