Incidental Mutation 'R2180:Ppp6c'
Institutional Source Beutler Lab
Gene Symbol Ppp6c
Ensembl Gene ENSMUSG00000026753
Gene Nameprotein phosphatase 6, catalytic subunit
MMRRC Submission 040182-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R2180 (G1)
Quality Score225
Status Not validated
Chromosomal Location39194354-39226451 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 39197513 bp
Amino Acid Change Aspartic acid to Glycine at position 227 (D227G)
Ref Sequence ENSEMBL: ENSMUSP00000145157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028087] [ENSMUST00000204257] [ENSMUST00000204368] [ENSMUST00000204701]
Predicted Effect probably benign
Transcript: ENSMUST00000028087
AA Change: D249G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000028087
Gene: ENSMUSG00000026753
AA Change: D249G

PP2Ac 19 289 3.36e-144 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143733
Predicted Effect probably benign
Transcript: ENSMUST00000204257
SMART Domains Protein: ENSMUSP00000145064
Gene: ENSMUSG00000026753

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 probably benign
Transcript: ENSMUST00000204701
AA Change: D227G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000145157
Gene: ENSMUSG00000026753
AA Change: D227G

PP2Ac 19 267 1.94e-117 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.1%
Validation Efficiency
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110017D15Rik T A 4: 41,507,170 M209L probably benign Het
Adamts5 T C 16: 85,887,924 D377G probably damaging Het
Adgrl4 A T 3: 151,500,142 I164F probably damaging Het
Anxa9 T C 3: 95,306,424 probably null Het
Aox4 A T 1: 58,213,067 T34S probably benign Het
Asic1 G T 15: 99,671,965 V56F probably benign Het
Atpaf1 T C 4: 115,788,360 M1T probably null Het
Axin1 A G 17: 26,143,335 T218A probably benign Het
BC049762 C A 11: 51,254,610 W50L probably damaging Het
Birc6 T C 17: 74,612,151 I1988T probably benign Het
Btbd7 A T 12: 102,785,897 D869E probably damaging Het
Caln1 T C 5: 130,839,408 *220Q probably null Het
Ccdc150 G A 1: 54,272,547 probably null Het
Ccnt1 A T 15: 98,543,600 S596T possibly damaging Het
Cd44 C T 2: 102,828,610 G640E possibly damaging Het
Cep192 A G 18: 67,824,742 E582G possibly damaging Het
Clcnkb G T 4: 141,409,508 probably null Het
Dhx29 T C 13: 112,962,872 probably null Het
Dnah8 T C 17: 30,840,647 F4407S probably benign Het
Enah A T 1: 181,918,459 M419K probably damaging Het
Fam129a A T 1: 151,718,078 H838L probably benign Het
Fancd2 A T 6: 113,574,637 T1055S probably benign Het
Gigyf2 G A 1: 87,416,920 G525D probably damaging Het
Gm5800 T A 14: 51,715,994 K55* probably null Het
Gpr149 A G 3: 62,604,068 L170P probably damaging Het
Grik4 A T 9: 42,542,005 Y695N probably benign Het
Gsg1 A T 6: 135,240,145 V228D probably damaging Het
Helb G A 10: 120,105,448 T445M probably benign Het
Helz2 A T 2: 181,233,732 D1656E probably damaging Het
Hyou1 A T 9: 44,388,019 K669M probably benign Het
Itga2 T C 13: 114,849,381 N953D possibly damaging Het
Ldhd T C 8: 111,629,386 I122V probably benign Het
Lrrtm1 A G 6: 77,244,346 D262G probably damaging Het
Mapkapk5 T C 5: 121,535,864 probably null Het
Numa1 T C 7: 101,999,990 I976T probably benign Het
Olfr1307 A G 2: 111,945,003 V151A probably benign Het
Olfr417 A G 1: 174,369,401 I161M probably damaging Het
Olfr446 C T 6: 42,927,525 T98I probably benign Het
Olfr677 T C 7: 105,056,885 I213T probably benign Het
Patj G A 4: 98,523,502 probably null Het
Pfas T C 11: 68,992,187 D757G possibly damaging Het
Pom121l2 A G 13: 21,981,975 N139D probably benign Het
Ppp2r3a A T 9: 101,127,015 Y994* probably null Het
Ptpn13 T G 5: 103,569,558 H1855Q probably damaging Het
Ptprh T A 7: 4,601,868 Q59L probably benign Het
Rap1gap2 T C 11: 74,393,146 K669E probably benign Het
Rbl2 T C 8: 91,090,055 S348P possibly damaging Het
Rptor T A 11: 119,725,144 N161K probably damaging Het
Satb1 C T 17: 51,803,496 A192T probably damaging Het
Scn5a A G 9: 119,516,051 V1083A probably benign Het
Sec14l2 C T 11: 4,108,964 A194T probably damaging Het
Sema4b A G 7: 80,212,835 N53S probably benign Het
Sin3b T A 8: 72,753,295 Y876* probably null Het
Smchd1 C A 17: 71,463,799 M129I probably benign Het
Tmc1 T C 19: 20,824,084 Y484C probably damaging Het
Utp20 A G 10: 88,820,939 S135P probably damaging Het
Zfp266 A T 9: 20,499,679 C401S probably damaging Het
Zfp738 G A 13: 67,671,194 T226I probably damaging Het
Zfp871 G A 17: 32,775,301 T300M probably damaging Het
Other mutations in Ppp6c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02066:Ppp6c APN 2 39199671 missense probably benign 0.22
IGL02551:Ppp6c APN 2 39206657 missense probably damaging 1.00
IGL02967:Ppp6c APN 2 39226217 missense probably damaging 0.98
R0399:Ppp6c UTSW 2 39200124 splice site probably benign
R0506:Ppp6c UTSW 2 39206648 intron probably benign
R2061:Ppp6c UTSW 2 39226174 missense probably damaging 0.99
R5625:Ppp6c UTSW 2 39197441 missense probably benign
R5822:Ppp6c UTSW 2 39200052 nonsense probably null
R5994:Ppp6c UTSW 2 39210992 missense possibly damaging 0.95
R6785:Ppp6c UTSW 2 39197581 missense probably benign 0.00
R7346:Ppp6c UTSW 2 39226217 missense probably damaging 0.98
Predicted Primers PCR Primer

Sequencing Primer
Posted On2014-10-02