Incidental Mutation 'R4573:Ppp1r2'
ID 342296
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 041598-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.965) question?
Stock # R4573 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 31070359-31094095 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31079455 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 115 (Y115H)
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 possibly damaging
Transcript: ENSMUST00000060188
AA Change: Y115H

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000060118
Gene: ENSMUSG00000047714
AA Change: Y115H

DomainStartEndE-ValueType
Pfam:IPP-2 46 174 6.6e-46 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000115233
AA Change: Y115H

PolyPhen 2 Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000110888
Gene: ENSMUSG00000047714
AA Change: Y115H

DomainStartEndE-ValueType
Pfam:IPP-2 43 175 1.4e-61 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183720
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam15 T C 3: 89,253,293 (GRCm39) E212G probably damaging Het
Adam1b A C 5: 121,638,856 (GRCm39) S730A probably benign Het
Akr1b10 T C 6: 34,369,064 (GRCm39) V153A probably damaging Het
Ap1m2 T C 9: 21,217,054 (GRCm39) Y94C probably damaging Het
Arhgef33 T C 17: 80,672,711 (GRCm39) S320P probably damaging Het
Arsg T C 11: 109,408,108 (GRCm39) S87P probably damaging Het
Asic3 A G 5: 24,622,190 (GRCm39) Y458C probably damaging Het
Aspm G T 1: 139,407,245 (GRCm39) W2044L probably damaging Het
Atad2b T C 12: 5,004,663 (GRCm39) probably null Het
Atp1a2 T C 1: 172,106,204 (GRCm39) I869M possibly damaging Het
Bpifb2 C T 2: 153,731,412 (GRCm39) L263F probably damaging Het
C1s2 T C 6: 124,605,202 (GRCm39) probably null Het
Carf G T 1: 60,187,271 (GRCm39) A590S probably benign Het
Cbarp G T 10: 79,967,245 (GRCm39) D658E probably damaging Het
Cd1d2 A G 3: 86,894,861 (GRCm39) I78V probably benign Het
Cdc42bpb A T 12: 111,289,575 (GRCm39) M418K probably benign Het
Cdhr3 A T 12: 33,118,152 (GRCm39) probably null Het
Cep290 A G 10: 100,354,712 (GRCm39) K932R probably benign Het
Ces1d A C 8: 93,908,162 (GRCm39) N310K probably benign Het
Chka A G 19: 3,935,960 (GRCm39) K240R probably damaging Het
Cltb C T 13: 54,746,574 (GRCm39) R64H probably damaging Het
Cyp4f37 A G 17: 32,848,061 (GRCm39) E193G probably benign Het
Dhrs9 C A 2: 69,227,985 (GRCm39) H200N probably benign Het
Dnah6 T A 6: 73,063,164 (GRCm39) N2698I probably damaging Het
Dnah8 T C 17: 30,919,380 (GRCm39) S1118P probably benign Het
Dyrk1a A G 16: 94,492,882 (GRCm39) Y705C possibly damaging Het
Elmod1 T C 9: 53,833,256 (GRCm39) N183S probably damaging Het
Fer1l6 G A 15: 58,498,129 (GRCm39) probably null Het
Fsip2 A T 2: 82,816,510 (GRCm39) Y4081F possibly damaging Het
Gsr A G 8: 34,183,881 (GRCm39) D381G probably benign Het
Gucy1a1 A G 3: 82,016,229 (GRCm39) L253S possibly damaging Het
Herc3 C A 6: 58,871,098 (GRCm39) T69K possibly damaging Het
Hoxb13 A G 11: 96,085,777 (GRCm39) Y170C probably damaging Het
Hsd3b5 T C 3: 98,526,964 (GRCm39) M161V probably benign Het
Lrp6 G A 6: 134,447,693 (GRCm39) R985* probably null Het
Marchf5 T A 19: 37,197,793 (GRCm39) I154K probably damaging Het
Mcemp1 A G 8: 3,715,835 (GRCm39) probably null Het
Mrpl2 G T 17: 46,959,967 (GRCm39) C212F possibly damaging Het
Mterf1a G A 5: 3,941,119 (GRCm39) R250W possibly damaging Het
Mthfd1 A G 12: 76,340,912 (GRCm39) probably null Het
Mul1 T C 4: 138,163,660 (GRCm39) F19L probably benign Het
Mycbp2 G T 14: 103,583,733 (GRCm39) A74E probably benign Het
Myo5a A T 9: 75,108,579 (GRCm39) probably null Het
Ncor2 A T 5: 125,132,889 (GRCm39) S33T probably damaging Het
Niban1 T C 1: 151,579,517 (GRCm39) V412A possibly damaging Het
Ninj1 A G 13: 49,348,463 (GRCm39) N191S probably damaging Het
Nrap T C 19: 56,330,770 (GRCm39) probably null Het
Ofcc1 G A 13: 40,168,864 (GRCm39) T841I probably damaging Het
Or1j21 T A 2: 36,683,491 (GRCm39) M81K probably damaging Het
Or1n1b T C 2: 36,780,202 (GRCm39) I219M probably damaging Het
Osbpl5 C A 7: 143,248,053 (GRCm39) V671L probably benign Het
Paics T C 5: 77,104,450 (GRCm39) L25S probably benign Het
Pcmtd1 A G 1: 7,190,591 (GRCm39) E20G probably damaging Het
Pgbd5 G A 8: 125,102,966 (GRCm39) Q228* probably null Het
Pnpla7 T C 2: 24,940,885 (GRCm39) V1079A probably damaging Het
Pou2f1 G A 1: 165,740,830 (GRCm39) T113I probably benign Het
Ppp1r14c A G 10: 3,413,416 (GRCm39) I150V possibly damaging Het
Ptchd4 T C 17: 42,813,668 (GRCm39) V523A probably benign Het
Rabep1 G C 11: 70,808,577 (GRCm39) S468T probably damaging Het
Rgs6 T A 12: 83,112,789 (GRCm39) W200R probably damaging Het
Ryr3 C T 2: 112,585,519 (GRCm39) probably null Het
Scamp2 A T 9: 57,484,477 (GRCm39) D20V probably damaging Het
Sec24d G A 3: 123,152,519 (GRCm39) V844M probably damaging Het
Septin10 T A 10: 59,028,151 (GRCm39) N57Y probably damaging Het
Sis T C 3: 72,835,570 (GRCm39) K931E possibly damaging Het
Slamf7 T C 1: 171,463,934 (GRCm39) T258A probably benign Het
Slc15a1 A G 14: 121,724,441 (GRCm39) S144P probably damaging Het
Slc6a7 A T 18: 61,135,253 (GRCm39) V425E probably benign Het
Syt7 C T 19: 10,416,576 (GRCm39) R253* probably null Het
Tm4sf1 A T 3: 57,202,206 (GRCm39) C2S possibly damaging Het
Trio CCTTCTTCTTCT CCTTCTTCT 15: 27,773,084 (GRCm39) probably benign Het
Trpm3 C T 19: 22,879,506 (GRCm39) H594Y probably damaging Het
Tshz1 A T 18: 84,033,207 (GRCm39) N400K probably damaging Het
Vat1 A T 11: 101,351,441 (GRCm39) M300K probably benign Het
Vmn1r70 C A 7: 10,367,556 (GRCm39) probably null Het
Vmn2r5 C T 3: 64,411,339 (GRCm39) D410N probably damaging Het
Yap1 T C 9: 7,934,682 (GRCm39) D428G probably damaging Het
Zbed6 A G 1: 133,587,127 (GRCm39) I70T probably benign Het
Zfp157 A G 5: 138,455,191 (GRCm39) Y463C probably 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
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'- GTTCTTCAAATCAGGAAGGAAACAC -3'
(R):5'- ATTGATGGATTTCTCGCACCC -3'

Sequencing Primer
(F):5'- TCAAATCAGGAAGGAAACACTATTAC -3'
(R):5'- ATGGATTTCTCGCACCCACTCTG -3'
Posted On 2015-09-24