Incidental Mutation 'IGL02066:Ppp6c'
ID185633
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp6c
Ensembl Gene ENSMUSG00000026753
Gene Nameprotein phosphatase 6, catalytic subunit
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02066
Quality Score
Status
Chromosome2
Chromosomal Location39194354-39226451 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 39199671 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 199 (T199A)
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: T221A

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000028087
Gene: ENSMUSG00000026753
AA Change: T221A

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
PP2Ac 1 84 2.5e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000204701
AA Change: T199A

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000145157
Gene: ENSMUSG00000026753
AA Change: T199A

DomainStartEndE-ValueType
PP2Ac 19 267 1.94e-117 SMART
Coding Region Coverage
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik G A 11: 78,273,232 R1133H probably damaging Het
A2m T A 6: 121,649,895 C569S probably damaging Het
Adck5 T C 15: 76,595,206 V487A probably damaging Het
Agfg1 A G 1: 82,893,558 T483A probably damaging Het
Akr1c12 T C 13: 4,276,237 T82A probably damaging Het
Ano2 T A 6: 125,690,739 L6Q probably benign Het
Anp32a G A 9: 62,377,333 probably benign Het
Cep250 C A 2: 155,976,521 A871D probably damaging Het
Chl1 T C 6: 103,698,224 V624A probably benign Het
Clasp1 G A 1: 118,565,260 probably null Het
Clca3a2 T G 3: 144,813,455 D320A probably benign Het
Cnot9 A G 1: 74,527,053 Q201R possibly damaging Het
Cox4i2 C T 2: 152,760,682 R99C probably damaging Het
Csmd1 A T 8: 15,926,594 F2875I probably damaging Het
Dpagt1 A G 9: 44,331,906 Y246C probably damaging Het
Dsc1 A G 18: 20,108,803 probably benign Het
Eef1d G A 15: 75,896,855 T464I probably benign Het
Efna2 C T 10: 80,188,666 probably benign Het
Etaa1 C A 11: 17,946,687 V477L probably benign Het
Fam189b C T 3: 89,188,596 R545* probably null Het
Fam83d C T 2: 158,785,873 T494M probably benign Het
Fbxo24 C T 5: 137,612,870 V553M probably damaging Het
Gal3st2 A G 1: 93,873,657 T12A probably damaging Het
Gba2 G A 4: 43,570,175 T373I probably benign Het
Kitl T A 10: 100,076,882 C154S probably damaging Het
Lrp1b A T 2: 41,111,079 C2044* probably null Het
Lrp6 G T 6: 134,450,937 S1564* probably null Het
Manea A T 4: 26,340,965 probably benign Het
Myt1 T C 2: 181,797,189 L168P probably damaging Het
Notch1 T C 2: 26,460,396 E2244G possibly damaging Het
Nsd3 T G 8: 25,713,488 V1343G probably damaging Het
Nup155 T C 15: 8,157,766 probably benign Het
Obox6 T C 7: 15,834,703 I83V probably benign Het
Olfr358 A T 2: 37,005,309 F102I probably damaging Het
Olfr538 A T 7: 140,574,500 T116S possibly damaging Het
Pdgfra T C 5: 75,170,580 V282A possibly damaging Het
Pkd1l2 A G 8: 117,009,564 probably benign Het
Pmfbp1 A T 8: 109,541,733 I971F possibly damaging Het
Ptpa A G 2: 30,443,296 T3A possibly damaging Het
Rb1 A T 14: 73,198,534 M897K probably benign Het
Rptn A C 3: 93,397,129 S590R probably benign Het
Rreb1 A G 13: 37,931,506 D947G probably benign Het
Samd9l T C 6: 3,376,575 T229A probably damaging Het
Slc5a9 A T 4: 111,887,522 M423K probably damaging Het
Slc6a12 T A 6: 121,352,056 I111N probably damaging Het
Slc6a15 T A 10: 103,416,658 L561I probably damaging Het
Spag5 A G 11: 78,304,532 N222D probably benign Het
Spp2 G A 1: 88,417,243 M54I probably benign Het
Sptbn4 T C 7: 27,364,515 E847G possibly damaging Het
Timd2 T A 11: 46,678,223 N203Y probably damaging Het
Togaram1 G T 12: 64,983,421 D1000Y probably damaging Het
Usp47 C T 7: 112,064,397 R258C probably damaging Het
Uts2r A C 11: 121,160,697 D129A probably damaging Het
Vmn2r102 G A 17: 19,693,929 M585I probably benign Het
Vmn2r77 A T 7: 86,803,628 R518* probably null Het
Wdfy4 C T 14: 33,149,566 R296K probably benign Het
Xirp2 A T 2: 67,526,071 K3725N probably benign Het
Xntrpc T C 7: 102,077,829 S142P probably benign Het
Zfat T C 15: 68,180,829 H372R probably damaging Het
Other mutations in Ppp6c
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R2180:Ppp6c UTSW 2 39197513 missense probably benign 0.01
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
Posted On2014-05-07