Incidental Mutation 'R8342:Ppm1a'
ID 644972
Institutional Source Beutler Lab
Gene Symbol Ppm1a
Ensembl Gene ENSMUSG00000021096
Gene Name protein phosphatase 1A, magnesium dependent, alpha isoform
Synonyms 2310003C21Rik, MPPa-1, MMPa-2, Mpp alpha, 2900017D14Rik
MMRRC Submission 067731-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8342 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 72804231-72846593 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 72830909 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 145 (G145R)
Ref Sequence ENSEMBL: ENSMUSP00000021514 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021514] [ENSMUST00000221502] [ENSMUST00000221628] [ENSMUST00000222790] [ENSMUST00000222896]
AlphaFold P49443
Predicted Effect probably damaging
Transcript: ENSMUST00000021514
AA Change: G145R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021514
Gene: ENSMUSG00000021096
AA Change: G145R

DomainStartEndE-ValueType
PP2Cc 13 289 5.08e-106 SMART
PP2C_SIG 38 291 1.26e-1 SMART
Blast:PP2Cc 295 335 6e-8 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000221502
Predicted Effect probably benign
Transcript: ENSMUST00000221628
Predicted Effect probably benign
Transcript: ENSMUST00000222790
Predicted Effect probably damaging
Transcript: ENSMUST00000222896
AA Change: G145R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase dephosphorylates, and negatively regulates the activities of, MAP kinases and MAP kinase kinases. It has been shown to inhibit the activation of p38 and JNK kinase cascades induced by environmental stresses. This phosphatase can also dephosphorylate cyclin-dependent kinases, and thus may be involved in cell cycle control. Overexpression of this phosphatase is reported to activate the expression of the tumor suppressor gene TP53/p53, which leads to G2/M cell cycle arrest and apoptosis. Three alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit delayed wound healing, delayed re-epithelialization, and decreased keratinocyte migration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 A G 6: 86,963,321 (GRCm39) D917G unknown Het
Adad1 T C 3: 37,134,050 (GRCm39) S322P probably damaging Het
Agbl4 C T 4: 110,976,224 (GRCm39) L194F probably damaging Het
Ahr C T 12: 35,558,271 (GRCm39) G250R probably damaging Het
AI987944 A T 7: 41,024,310 (GRCm39) I226N probably benign Het
Ankar A G 1: 72,691,619 (GRCm39) V1114A probably damaging Het
Ankrd49 C A 9: 14,692,823 (GRCm39) A114S probably damaging Het
Arl6 C T 16: 59,442,802 (GRCm39) G140D unknown Het
Arrdc3 A G 13: 81,031,790 (GRCm39) S8G probably benign Het
Ate1 A T 7: 130,105,495 (GRCm39) V298E probably benign Het
Atp6v1b2 A G 8: 69,554,035 (GRCm39) I71V probably benign Het
Bin1 A G 18: 32,546,166 (GRCm39) M112V probably benign Het
Camk2b C T 11: 5,940,383 (GRCm39) A152T probably benign Het
Cars2 A C 8: 11,579,706 (GRCm39) F251V probably damaging Het
Cdkl1 A T 12: 69,800,952 (GRCm39) F229I probably damaging Het
Ceacam5 A T 7: 17,486,171 (GRCm39) Y556F possibly damaging Het
Chst15 T C 7: 131,849,615 (GRCm39) N442S probably benign Het
Ckap5 T A 2: 91,436,707 (GRCm39) D1602E possibly damaging Het
Col9a3 A T 2: 180,245,183 (GRCm39) I131F unknown Het
Cyp4f15 A T 17: 32,909,733 (GRCm39) D110V possibly damaging Het
Dlec1 A G 9: 118,968,457 (GRCm39) I1258V probably benign Het
Dpyd A G 3: 119,108,452 (GRCm39) T832A possibly damaging Het
Eno1 A G 4: 150,329,693 (GRCm39) Y189C probably damaging Het
Gnat3 A G 5: 18,208,838 (GRCm39) T181A Het
Kif1b T C 4: 149,306,805 (GRCm39) M852V probably damaging Het
Klk1b26 A T 7: 43,665,508 (GRCm39) I139F probably damaging Het
Loxhd1 G A 18: 77,493,681 (GRCm39) V1547M possibly damaging Het
Lrp4 A G 2: 91,318,790 (GRCm39) T876A probably damaging Het
Malrd1 G T 2: 15,638,035 (GRCm39) W451L unknown Het
Marchf6 A T 15: 31,494,262 (GRCm39) N261K possibly damaging Het
Mcpt2 T C 14: 56,280,250 (GRCm39) C50R probably damaging Het
Muc16 A G 9: 18,569,981 (GRCm39) V846A unknown Het
Muc5b A T 7: 141,414,602 (GRCm39) D2516V unknown Het
Myh15 T C 16: 48,913,120 (GRCm39) L359P probably benign Het
Nemp1 G A 10: 127,528,898 (GRCm39) V201I probably benign Het
Nr2e1 A T 10: 42,444,425 (GRCm39) L228Q probably damaging Het
Nrg1 C A 8: 32,312,334 (GRCm39) V388L probably benign Het
Nrg3 T A 14: 38,734,053 (GRCm39) T278S probably damaging Het
Numb T C 12: 83,854,990 (GRCm39) E112G probably benign Het
Or1l4b T C 2: 37,036,778 (GRCm39) S185P probably damaging Het
Or8g2b A C 9: 39,751,612 (GRCm39) N294T probably damaging Het
Pdlim2 C A 14: 70,403,563 (GRCm39) C283F probably damaging Het
Potegl T A 2: 23,147,017 (GRCm39) probably null Het
Pramel14 T A 4: 143,720,809 (GRCm39) D44V probably benign Het
Pramel18 A T 4: 101,767,581 (GRCm39) M277L probably benign Het
Prune2 C A 19: 17,103,027 (GRCm39) Q2729K probably benign Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Scn9a G T 2: 66,366,626 (GRCm39) T719K probably benign Het
Slc12a7 T C 13: 73,933,281 (GRCm39) V113A probably benign Het
Slc23a1 C T 18: 35,755,588 (GRCm39) G436E probably damaging Het
Slc37a2 A T 9: 37,149,510 (GRCm39) probably null Het
Steap1 G A 5: 5,790,816 (GRCm39) S44L probably benign Het
Sucnr1 C T 3: 59,994,155 (GRCm39) R228C probably damaging Het
Sult3a1 G A 10: 33,742,517 (GRCm39) G48D probably damaging Het
Syn3 A T 10: 86,302,891 (GRCm39) V88D probably damaging Het
Syne1 T C 10: 5,058,622 (GRCm39) D7297G probably benign Het
Tmco5 T C 2: 116,710,734 (GRCm39) I18T probably damaging Het
Trpc1 A G 9: 95,608,601 (GRCm39) L230P probably damaging Het
Ttn T C 2: 76,719,785 (GRCm39) N7108S unknown Het
Ubr5 A G 15: 38,025,081 (GRCm39) V559A Het
Ugt1a7c T C 1: 88,022,973 (GRCm39) V44A possibly damaging Het
Vmn2r60 A T 7: 41,790,494 (GRCm39) S494C possibly damaging Het
Other mutations in Ppm1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0838:Ppm1a UTSW 12 72,831,094 (GRCm39) missense probably benign 0.00
R1305:Ppm1a UTSW 12 72,830,494 (GRCm39) missense probably damaging 1.00
R1802:Ppm1a UTSW 12 72,840,481 (GRCm39) splice site probably null
R4864:Ppm1a UTSW 12 72,830,738 (GRCm39) missense probably benign
R4895:Ppm1a UTSW 12 72,831,126 (GRCm39) missense probably damaging 1.00
R5604:Ppm1a UTSW 12 72,837,455 (GRCm39) missense probably benign 0.22
R6348:Ppm1a UTSW 12 72,837,449 (GRCm39) missense probably benign
R7130:Ppm1a UTSW 12 72,831,007 (GRCm39) missense probably benign 0.01
R7432:Ppm1a UTSW 12 72,830,916 (GRCm39) missense probably damaging 1.00
R9664:Ppm1a UTSW 12 72,837,451 (GRCm39) missense possibly damaging 0.67
Predicted Primers PCR Primer
(F):5'- TGCCAAATACTGCTGTGAGC -3'
(R):5'- GTAATCGAAATCCCCAAGGGC -3'

Sequencing Primer
(F):5'- CCAGGATTTCAGAGGATCTGC -3'
(R):5'- AAGGGCCCTCGATACAGC -3'
Posted On 2020-09-02