Incidental Mutation 'R7113:Ppp1r2'
ID 551648
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 045205-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.965) question?
Stock # R7113 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 31070359-31094095 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31073536 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 197 (D197G)
Ref Sequence ENSEMBL: ENSMUSP00000060118 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060188] [ENSMUST00000115233]
AlphaFold Q9DCL8
PDB Structure rat PP1cgamma complexed with mouse inhibitor-2 [X-RAY DIFFRACTION]
Rat pp1c gamma complexed with mouse inhibitor-2 [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000060188
AA Change: D197G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000060118
Gene: ENSMUSG00000047714
AA Change: D197G

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

DomainStartEndE-ValueType
Pfam:IPP-2 43 175 1.4e-61 PFAM
Meta Mutation Damage Score 0.0629 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 95% (53/56)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts6 T C 13: 104,449,267 (GRCm39) S226P probably benign Het
Adarb2 T C 13: 8,781,881 (GRCm39) Y586H probably damaging Het
Ano7 A T 1: 93,313,342 (GRCm39) E160V probably benign Het
Apob G C 12: 8,045,539 (GRCm39) A895P probably damaging Het
Ccdc157 T C 11: 4,098,889 (GRCm39) T206A possibly damaging Het
Ceacam18 A G 7: 43,291,400 (GRCm39) N281D probably benign Het
Chil4 T C 3: 106,110,083 (GRCm39) D337G probably damaging Het
Chil4 T G 3: 106,121,664 (GRCm39) K62Q probably benign Het
Cic A T 7: 24,972,869 (GRCm39) I867F probably benign Het
Cntln A G 4: 84,968,064 (GRCm39) E761G probably damaging Het
Cyp2d26 T A 15: 82,674,403 (GRCm39) Y493F probably benign Het
Dync2h1 A T 9: 7,075,788 (GRCm39) F3026L probably benign Het
Ehd3 T A 17: 74,137,179 (GRCm39) D449E probably benign Het
Gpt2 G A 8: 86,244,681 (GRCm39) E325K probably benign Het
Herc2 T G 7: 55,853,597 (GRCm39) D3696E probably damaging Het
Hivep3 T A 4: 119,955,566 (GRCm39) I1294N probably damaging Het
Il19 T C 1: 130,862,732 (GRCm39) I139V probably benign Het
Jmjd1c T A 10: 66,993,780 (GRCm39) I87N probably damaging Het
Kcnma1 A G 14: 23,513,224 (GRCm39) Y392H probably damaging Het
Kcnv2 T C 19: 27,301,448 (GRCm39) L433P probably damaging Het
Kif9 A T 9: 110,335,732 (GRCm39) N378Y probably damaging Het
Lonrf1 A T 8: 36,697,664 (GRCm39) V440E probably benign Het
Lrrc37 A G 11: 103,509,625 (GRCm39) I781T unknown Het
Manea A T 4: 26,336,718 (GRCm39) L186Q probably damaging Het
Mas1 A G 17: 13,061,324 (GRCm39) I33T probably benign Het
Med13l A G 5: 118,864,330 (GRCm39) S389G probably benign Het
Nxph3 T C 11: 95,401,892 (GRCm39) N174S possibly damaging Het
Or1l4 T A 2: 37,091,568 (GRCm39) F105Y possibly damaging Het
Or8g52 G C 9: 39,630,973 (GRCm39) C150S probably benign Het
Pcdha5 A G 18: 37,094,757 (GRCm39) D422G probably benign Het
Pias4 A C 10: 80,990,287 (GRCm39) V416G possibly damaging Het
Pik3cg T A 12: 32,255,666 (GRCm39) Y107F probably damaging Het
Plcg1 T A 2: 160,590,203 (GRCm39) W156R possibly damaging Het
Plcl2 A G 17: 50,913,492 (GRCm39) D167G probably damaging Het
Podxl T A 6: 31,501,668 (GRCm39) probably null Het
Ptprs C G 17: 56,758,697 (GRCm39) V175L probably benign Het
Rad17 A T 13: 100,766,025 (GRCm39) S368T probably benign Het
Rdh8 G T 9: 20,736,623 (GRCm39) R230L probably benign Het
Rpl35 A C 2: 38,894,168 (GRCm39) L58R probably damaging Het
Rtp3 A C 9: 110,815,767 (GRCm39) C199W probably damaging Het
S100pbp G A 4: 129,075,896 (GRCm39) T143I probably damaging Het
Scarf1 A G 11: 75,416,904 (GRCm39) E782G probably damaging Het
Slc30a9 T C 5: 67,484,205 (GRCm39) V114A probably benign Het
Speer1c G A 5: 10,292,977 (GRCm39) P189S Het
Stpg2 G A 3: 139,407,535 (GRCm39) probably null Het
Tdpoz1 T C 3: 93,578,113 (GRCm39) S224G possibly damaging Het
Triml2 T A 8: 43,636,370 (GRCm39) Y52N probably benign Het
Trpm2 A T 10: 77,783,765 (GRCm39) I236N probably damaging Het
Unc5c A G 3: 141,507,054 (GRCm39) D602G probably benign Het
Upk1a A G 7: 30,309,236 (GRCm39) S29P probably damaging Het
Vmn2r54 A G 7: 12,350,001 (GRCm39) L527P probably damaging Het
Vmn2r72 A T 7: 85,399,011 (GRCm39) probably null Het
Vstm2l G T 2: 157,756,649 (GRCm39) probably benign Het
Vwf G T 6: 125,632,007 (GRCm39) G1952V Het
Zfand6 A C 7: 84,265,077 (GRCm39) I208S probably damaging Het
Zfp236 A G 18: 82,638,462 (GRCm39) I1386T possibly damaging Het
Other mutations in Ppp1r2
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4531001:Ppp1r2 UTSW 16 31,077,279 (GRCm39) missense probably damaging 1.00
R2321:Ppp1r2 UTSW 16 31,084,121 (GRCm39) critical splice donor site probably null
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
Predicted Primers PCR Primer
(F):5'- AGTCTCTATGGTCTTAATTCTTGGC -3'
(R):5'- GCATGTTTCCCATACCTGGTTAAG -3'

Sequencing Primer
(F):5'- GGCAATATATAACTGGTGTGTACTC -3'
(R):5'- AGAGGCCTCACATGTCTGAG -3'
Posted On 2019-05-15