Incidental Mutation 'R5684:Ppp2ca'
Institutional Source Beutler Lab
Gene Symbol Ppp2ca
Ensembl Gene ENSMUSG00000020349
Gene Nameprotein phosphatase 2 (formerly 2A), catalytic subunit, alpha isoform
MMRRC Submission 043178-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R5684 (G1)
Quality Score225
Status Not validated
Chromosomal Location52098681-52127778 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 52113327 bp
Amino Acid Change Lysine to Glutamic Acid at position 104 (K104E)
Ref Sequence ENSEMBL: ENSMUSP00000020608 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020608]
Predicted Effect probably damaging
Transcript: ENSMUST00000020608
AA Change: K104E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020608
Gene: ENSMUSG00000020349
AA Change: K104E

PP2Ac 23 293 3.46e-155 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181262
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the phosphatase 2A catalytic subunit. Protein phosphatase 2A 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. This gene encodes an alpha isoform of the catalytic subunit. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null embryos die before gastrulation and exhibit widespread degeneration. Mesoderm is not formed. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519G04Rik A G 5: 114,879,560 D144G possibly damaging Het
4933406M09Rik A G 1: 134,389,922 D144G probably benign Het
AU040320 A G 4: 126,792,146 T172A probably benign Het
Bspry T C 4: 62,496,282 F371L possibly damaging Het
Cacna1c A G 6: 118,687,044 F555L probably damaging Het
Colec12 T C 18: 9,849,009 S396P probably damaging Het
Creb3l1 A G 2: 91,990,731 V336A probably damaging Het
Crocc T C 4: 141,051,144 N85S probably damaging Het
Dcbld2 T C 16: 58,449,809 S278P possibly damaging Het
Dnhd1 G A 7: 105,703,209 R2523Q probably damaging Het
Ercc4 T A 16: 13,130,601 C561S probably benign Het
Gab1 T C 8: 80,769,670 K637R probably damaging Het
Grm5 T C 7: 88,130,645 S1130P probably benign Het
H2-M10.6 A T 17: 36,813,854 N221I probably damaging Het
Htr7 C A 19: 35,969,871 A248S probably damaging Het
Kcnh5 T A 12: 75,137,649 K100I probably damaging Het
Naip6 T A 13: 100,300,380 Q545L probably damaging Het
Nkpd1 C T 7: 19,523,573 Q276* probably null Het
Olfr159 T C 4: 43,770,624 N129S probably benign Het
Olfr487 A T 7: 108,212,072 Y152* probably null Het
Olfr488 A T 7: 108,256,039 I33N possibly damaging Het
Pidd1 A T 7: 141,441,111 probably null Het
Plec A G 15: 76,205,596 probably null Het
Plekhh2 C T 17: 84,597,918 A1080V probably damaging Het
Plppr3 A T 10: 79,865,317 S564T possibly damaging Het
Rad54l T A 4: 116,100,563 K407M probably damaging Het
Sfn T A 4: 133,601,292 K160* probably null Het
Slc22a15 A G 3: 101,862,955 S439P probably damaging Het
Slc6a2 T A 8: 92,989,053 V273D probably damaging Het
Slc9a9 T C 9: 95,055,508 F471S possibly damaging Het
Smc3 A G 19: 53,640,804 E896G probably benign Het
Sorbs3 C T 14: 70,181,222 R717Q probably damaging Het
Spg11 T C 2: 122,093,503 E779G probably damaging Het
Spg7 T C 8: 123,073,884 V66A probably damaging Het
Trmt11 A G 10: 30,547,710 S400P probably damaging Het
Trpc6 T C 9: 8,653,128 V567A probably damaging Het
Vmn2r103 T G 17: 19,792,989 I124S probably benign Het
Vps13a A T 19: 16,699,045 M1188K probably benign Het
Vtn G A 11: 78,500,558 G266S probably damaging Het
Yeats2 T C 16: 20,193,803 S640P possibly damaging Het
Zc3hav1 A T 6: 38,311,279 M874K probably benign Het
Other mutations in Ppp2ca
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:Ppp2ca APN 11 52121949 missense probably benign 0.02
IGL01767:Ppp2ca APN 11 52118055 nonsense probably null
IGL01982:Ppp2ca APN 11 52099064 missense probably benign
IGL03260:Ppp2ca APN 11 52113148 missense probably damaging 0.96
R0539:Ppp2ca UTSW 11 52118162 critical splice donor site probably null
R0788:Ppp2ca UTSW 11 52113142 missense possibly damaging 0.92
R0855:Ppp2ca UTSW 11 52121925 missense probably benign 0.01
R1539:Ppp2ca UTSW 11 52120973 missense probably damaging 0.99
R1591:Ppp2ca UTSW 11 52099089 missense possibly damaging 0.93
R1766:Ppp2ca UTSW 11 52121946 missense probably benign
R2267:Ppp2ca UTSW 11 52118086 missense probably damaging 1.00
R2268:Ppp2ca UTSW 11 52118086 missense probably damaging 1.00
R3933:Ppp2ca UTSW 11 52119262 missense probably damaging 1.00
R4199:Ppp2ca UTSW 11 52099101 missense probably benign
R4992:Ppp2ca UTSW 11 52113206 missense possibly damaging 0.52
R5261:Ppp2ca UTSW 11 52099110 missense probably benign
R5729:Ppp2ca UTSW 11 52118029 missense probably damaging 1.00
R5766:Ppp2ca UTSW 11 52113187 missense probably damaging 1.00
R7186:Ppp2ca UTSW 11 52119253 missense possibly damaging 0.95
Predicted Primers PCR Primer

Sequencing Primer
Posted On2017-12-01