Incidental Mutation 'R2061:Ppp6c'
ID 316210
Institutional Source Beutler Lab
Gene Symbol Ppp6c
Ensembl Gene ENSMUSG00000026753
Gene Name protein phosphatase 6, catalytic subunit
MMRRC Submission 040066-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2061 (G1)
Quality Score 211
Status Validated
Chromosome 2
Chromosomal Location 39194354-39226451 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 39226174 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 23 (D23A)
Ref Sequence ENSEMBL: ENSMUSP00000145064 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028087] [ENSMUST00000204257] [ENSMUST00000204368] [ENSMUST00000204701]
AlphaFold Q9CQR6
Predicted Effect probably damaging
Transcript: ENSMUST00000028087
AA Change: D23A

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000028087
Gene: ENSMUSG00000026753
AA Change: D23A

PP2Ac 19 289 3.36e-144 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000204257
AA Change: D23A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000145064
Gene: ENSMUSG00000026753
AA Change: D23A

PDB:4IYP|C 1 75 3e-14 PDB
SCOP:d1auia_ 5 57 5e-16 SMART
Blast:PP2Ac 19 74 1e-21 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000204368
SMART Domains Protein: ENSMUSP00000145393
Gene: ENSMUSG00000026753

PP2Ac 1 84 2.5e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000204701
AA Change: D23A

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000145157
Gene: ENSMUSG00000026753
AA Change: D23A

PP2Ac 19 267 1.94e-117 SMART
Meta Mutation Damage Score 0.2840 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 99% (124/125)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the catalytic subunit of protein phosphatase, a component of a signaling pathway regulating cell cycle progression. Splice variants encoding different protein isoforms exist. The pseudogene of this gene is located on chromosome X. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal embryonic development and embryonic lethality. Mice homozygous for a conditional allele activated in skin cells exhibit increased susceptibility to chemically induced skin tumors with increased proliferative and inflammatory responses in the skin. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 122 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1300017J02Rik T C 9: 103,268,314 (GRCm38) M395V probably benign Het
2610507B11Rik T A 11: 78,268,749 (GRCm38) C541* probably null Het
9130011E15Rik C T 19: 45,978,667 (GRCm38) R12Q probably damaging Het
A4gnt T C 9: 99,620,359 (GRCm38) S191P probably damaging Het
AI314180 G T 4: 58,824,270 (GRCm38) P1116T probably damaging Het
Ak2 C T 4: 129,008,197 (GRCm38) A221V probably damaging Het
Akap9 T A 5: 3,961,010 (GRCm38) V571E probably damaging Het
Amph G T 13: 19,125,035 (GRCm38) E428* probably null Het
Arnt2 T A 7: 84,343,870 (GRCm38) D154V probably damaging Het
Arrdc1 G A 2: 24,926,352 (GRCm38) Q202* probably null Het
Ate1 A G 7: 130,510,913 (GRCm38) C72R probably damaging Het
Atox1 A G 11: 55,454,898 (GRCm38) V22A possibly damaging Het
Bbs12 A T 3: 37,319,066 (GRCm38) M3L probably damaging Het
BC067074 T A 13: 113,318,094 (GRCm38) W225R probably damaging Het
Bfsp1 A G 2: 143,862,678 (GRCm38) V85A probably benign Het
Caskin2 C A 11: 115,803,630 (GRCm38) V382F probably benign Het
Ccdc39 T A 3: 33,819,896 (GRCm38) M596L probably damaging Het
Cd22 A C 7: 30,876,156 (GRCm38) Y154D probably benign Het
Cd22 C T 7: 30,870,105 (GRCm38) V529M probably damaging Het
Cdadc1 T A 14: 59,581,334 (GRCm38) E348D probably damaging Het
Cdhr2 T C 13: 54,720,818 (GRCm38) V531A probably damaging Het
Cdk11b A G 4: 155,641,604 (GRCm38) probably benign Het
Cebpa G T 7: 35,119,522 (GRCm38) R35L probably damaging Het
Chat T C 14: 32,446,873 (GRCm38) N235S probably benign Het
Col12a1 T A 9: 79,617,705 (GRCm38) I2725F possibly damaging Het
Cracr2b A G 7: 141,465,280 (GRCm38) E231G probably damaging Het
Cryaa G T 17: 31,681,055 (GRCm38) A151S probably benign Het
Dab1 A T 4: 104,678,741 (GRCm38) I116F probably damaging Het
Ddx43 C A 9: 78,396,104 (GRCm38) N75K probably benign Het
Dmbt1 T G 7: 131,099,133 (GRCm38) C1014G possibly damaging Het
Dner C A 1: 84,405,989 (GRCm38) C558F probably damaging Het
Dsc2 A G 18: 20,032,399 (GRCm38) V839A possibly damaging Het
Dsg3 C T 18: 20,527,737 (GRCm38) R378* probably null Het
Emilin1 C T 5: 30,917,738 (GRCm38) P441L possibly damaging Het
Epha6 T C 16: 59,655,797 (GRCm38) M1069V probably damaging Het
F930017D23Rik A C 10: 43,604,420 (GRCm38) noncoding transcript Het
Faf1 A T 4: 109,710,808 (GRCm38) N22Y probably damaging Het
Flrt3 A T 2: 140,661,453 (GRCm38) V85E probably damaging Het
Gadl1 T A 9: 115,941,380 (GRCm38) I87N probably damaging Het
Galnt14 A G 17: 73,512,153 (GRCm38) F314S probably damaging Het
Gba2 A T 4: 43,574,029 (GRCm38) Y141* probably null Het
Gdap1 A T 1: 17,145,465 (GRCm38) probably benign Het
Gfod1 A T 13: 43,303,243 (GRCm38) probably null Het
Gm14295 C T 2: 176,810,681 (GRCm38) R655* probably null Het
Gm4353 A G 7: 116,083,699 (GRCm38) S216P probably damaging Het
Gm6605 T A 7: 38,448,282 (GRCm38) noncoding transcript Het
Hectd1 A T 12: 51,794,444 (GRCm38) D634E probably damaging Het
Helz2 A G 2: 181,240,544 (GRCm38) I152T probably damaging Het
Hivep1 A G 13: 42,160,124 (GRCm38) K1947E possibly damaging Het
Ifrd1 A T 12: 40,213,245 (GRCm38) F144L probably benign Het
Itgae A T 11: 73,118,622 (GRCm38) Q544L probably benign Het
Jmjd1c A T 10: 67,218,426 (GRCm38) E323D probably damaging Het
Kdm5a G T 6: 120,381,617 (GRCm38) R207L probably benign Het
Kif5b C T 18: 6,226,377 (GRCm38) probably null Het
Lbp T C 2: 158,324,579 (GRCm38) V351A probably benign Het
Lss A T 10: 76,546,098 (GRCm38) probably null Het
Madd A C 2: 91,161,486 (GRCm38) probably benign Het
Map6 G A 7: 99,317,472 (GRCm38) V503I probably damaging Het
Mark1 A G 1: 184,928,063 (GRCm38) L22P probably damaging Het
Mcfd2 T C 17: 87,255,976 (GRCm38) N130D probably damaging Het
Mcm3ap A G 10: 76,470,068 (GRCm38) N5S probably benign Het
Mdm4 A T 1: 133,012,651 (GRCm38) F48I probably damaging Het
Mga A T 2: 119,964,980 (GRCm38) probably benign Het
Mknk2 A T 10: 80,671,557 (GRCm38) probably null Het
Mmp15 T C 8: 95,370,779 (GRCm38) Y459H possibly damaging Het
Mthfd1l A G 10: 4,103,288 (GRCm38) K879R probably benign Het
Mycbp2 T C 14: 103,287,260 (GRCm38) K655E probably damaging Het
Nasp T C 4: 116,611,126 (GRCm38) N221D probably benign Het
Ndc80 T C 17: 71,514,218 (GRCm38) E245G probably benign Het
Nmral1 C T 16: 4,716,329 (GRCm38) E83K probably damaging Het
Noa1 T A 5: 77,304,187 (GRCm38) Q550L possibly damaging Het
Nutm1 A T 2: 112,255,752 (GRCm38) Y211* probably null Het
Olfr1420 T A 19: 11,896,557 (GRCm38) Y179N probably damaging Het
Olfr1474 A G 19: 13,471,241 (GRCm38) I90M probably damaging Het
Olfr148 G T 9: 39,613,775 (GRCm38) M69I probably benign Het
Olfr700 A C 7: 106,805,768 (GRCm38) H231Q probably benign Het
Olfr723 T C 14: 49,929,021 (GRCm38) I174M possibly damaging Het
Otoa T C 7: 121,131,328 (GRCm38) F584L probably damaging Het
Palb2 G A 7: 122,124,525 (GRCm38) T304I possibly damaging Het
Pcolce2 A T 9: 95,670,176 (GRCm38) M121L probably benign Het
Pcsk5 T C 19: 17,454,872 (GRCm38) T1460A probably benign Het
Pdzrn4 A T 15: 92,770,160 (GRCm38) D731V probably damaging Het
Pex11b C A 3: 96,635,721 (GRCm38) Q12K possibly damaging Het
Pigw G C 11: 84,877,310 (GRCm38) Q398E probably benign Het
Pkd1 A G 17: 24,569,914 (GRCm38) E882G possibly damaging Het
Pkhd1 A T 1: 20,612,812 (GRCm38) N55K possibly damaging Het
Plch2 A T 4: 155,042,841 (GRCm38) probably benign Het
Plcl1 T A 1: 55,751,345 (GRCm38) L1058Q probably benign Het
Ppfia2 T C 10: 106,837,329 (GRCm38) S511P possibly damaging Het
Ppfibp2 T C 7: 107,739,230 (GRCm38) L676P probably damaging Het
Pqlc1 G T 18: 80,291,715 (GRCm38) A232S probably benign Het
Prss30 G A 17: 23,974,668 (GRCm38) probably benign Het
Ptprz1 T C 6: 23,049,675 (GRCm38) probably null Het
Rec114 T A 9: 58,652,905 (GRCm38) probably benign Het
Ryr2 T C 13: 11,665,878 (GRCm38) probably null Het
Ryr3 A T 2: 112,663,004 (GRCm38) I3715N possibly damaging Het
Scin T C 12: 40,080,948 (GRCm38) Y322C probably damaging Het
Scn3a A G 2: 65,461,308 (GRCm38) V1698A probably damaging Het
Scn5a G A 9: 119,485,651 (GRCm38) S1996L probably damaging Het
Serpinb2 A G 1: 107,522,795 (GRCm38) K174R possibly damaging Het
Slc16a4 T C 3: 107,300,711 (GRCm38) I179T probably benign Het
Slc35b1 T G 11: 95,385,892 (GRCm38) F102V possibly damaging Het
Slc6a15 A G 10: 103,409,734 (GRCm38) D526G probably benign Het
Spata16 A G 3: 26,924,370 (GRCm38) D495G probably damaging Het
Stk11ip G A 1: 75,529,584 (GRCm38) E583K possibly damaging Het
Stk-ps1 T G 17: 36,398,152 (GRCm38) noncoding transcript Het
Sufu T A 19: 46,397,212 (GRCm38) I37N probably damaging Het
Tacr1 C T 6: 82,492,554 (GRCm38) P140S probably damaging Het
Tas1r3 G A 4: 155,860,470 (GRCm38) R765C probably damaging Het
Tenm3 C T 8: 48,342,256 (GRCm38) probably null Het
Tex36 A T 7: 133,595,223 (GRCm38) I55N probably damaging Het
Tmem150c T C 5: 100,080,028 (GRCm38) Y192C probably damaging Het
Tmem237 A G 1: 59,120,286 (GRCm38) probably benign Het
Trim11 A G 11: 58,982,063 (GRCm38) E191G probably damaging Het
Ttll3 C T 6: 113,409,042 (GRCm38) A612V possibly damaging Het
Ttn G A 2: 76,977,122 (GRCm38) A89V probably damaging Het
Usp37 A G 1: 74,468,272 (GRCm38) F529L probably damaging Het
Vmn1r217 A C 13: 23,114,528 (GRCm38) V68G probably benign Het
Vwf T C 6: 125,591,188 (GRCm38) S349P probably damaging Het
Wt1 G A 2: 105,131,157 (GRCm38) probably null Het
Zcchc7 T A 4: 44,895,838 (GRCm38) L262H probably damaging Het
Zfp873 A G 10: 82,060,157 (GRCm38) S241G probably benign Het
Other mutations in Ppp6c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02066:Ppp6c APN 2 39,199,671 (GRCm38) missense probably benign 0.22
IGL02551:Ppp6c APN 2 39,206,657 (GRCm38) missense probably damaging 1.00
IGL02967:Ppp6c APN 2 39,226,217 (GRCm38) missense probably damaging 0.98
Pepperoncino UTSW 2 39,200,040 (GRCm38) critical splice donor site probably null
R0399:Ppp6c UTSW 2 39,200,124 (GRCm38) splice site probably benign
R0506:Ppp6c UTSW 2 39,206,648 (GRCm38) intron probably benign
R2180:Ppp6c UTSW 2 39,197,513 (GRCm38) missense probably benign 0.01
R5625:Ppp6c UTSW 2 39,197,441 (GRCm38) missense probably benign
R5822:Ppp6c UTSW 2 39,200,052 (GRCm38) nonsense probably null
R5994:Ppp6c UTSW 2 39,210,992 (GRCm38) missense possibly damaging 0.95
R6785:Ppp6c UTSW 2 39,197,581 (GRCm38) missense probably benign 0.00
R7346:Ppp6c UTSW 2 39,226,217 (GRCm38) missense probably damaging 0.98
R9069:Ppp6c UTSW 2 39,204,916 (GRCm38) missense probably damaging 1.00
R9344:Ppp6c UTSW 2 39,200,040 (GRCm38) critical splice donor site probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-05-15