Incidental Mutation 'IGL02551:Ppp6c'
ID298109
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 #IGL02551
Quality Score
Status
Chromosome2
Chromosomal Location39194354-39226451 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 39206657 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 78 (F78I)
Ref Sequence ENSEMBL: ENSMUSP00000028087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028087] [ENSMUST00000204257] [ENSMUST00000204368] [ENSMUST00000204701]
Predicted Effect probably damaging
Transcript: ENSMUST00000028087
AA Change: F78I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028087
Gene: ENSMUSG00000026753
AA Change: F78I

DomainStartEndE-ValueType
PP2Ac 19 289 3.36e-144 SMART
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
SMART Domains Protein: ENSMUSP00000145157
Gene: ENSMUSG00000026753

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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012P17Rik G A 1: 158,969,048 noncoding transcript Het
Abca8a T C 11: 110,084,242 I109V probably benign Het
Acsm2 C T 7: 119,573,284 P117S probably damaging Het
Adamts18 C A 8: 113,699,072 C1186F probably damaging Het
Adamts5 A T 16: 85,870,038 V522E possibly damaging Het
Adcy10 A G 1: 165,543,233 T694A probably damaging Het
Adgra2 G A 8: 27,119,222 V609I probably benign Het
Agbl3 A G 6: 34,823,071 K638R possibly damaging Het
Alpk2 T A 18: 65,372,751 N66I probably damaging Het
Ap3b1 T A 13: 94,418,091 I245N probably damaging Het
Aqp9 A G 9: 71,132,640 V120A probably damaging Het
Arhgef17 T C 7: 100,930,346 E465G probably damaging Het
Btrc G T 19: 45,423,134 C31F possibly damaging Het
Calhm2 G A 19: 47,133,100 S210L probably damaging Het
Cnksr3 C A 10: 7,152,912 K153N probably damaging Het
Cnr1 T C 4: 33,943,686 S25P probably benign Het
Dnajc6 T A 4: 101,639,353 W838R probably damaging Het
Fam78a T A 2: 32,069,556 T181S probably damaging Het
Fat1 A G 8: 45,051,398 T4600A probably damaging Het
Fbxo31 A T 8: 121,566,344 Y101N probably damaging Het
Glmp A G 3: 88,325,082 M1V probably null Het
Gsdmc T A 15: 63,801,933 T168S probably benign Het
Has1 C T 17: 17,848,298 V265I probably damaging Het
Hmcn2 A G 2: 31,454,811 D4670G possibly damaging Het
Kcnj4 C T 15: 79,484,902 M292I probably benign Het
Kmo A T 1: 175,637,919 S80C probably damaging Het
Lrrc8d C T 5: 105,813,548 T608I possibly damaging Het
Mical2 A T 7: 112,323,990 N635I probably benign Het
Nags T C 11: 102,147,941 S403P probably damaging Het
Nalcn T A 14: 123,323,338 I776F probably benign Het
Ncan A T 8: 70,102,462 N1018K probably damaging Het
Notch3 T A 17: 32,154,731 probably benign Het
Nup93 C T 8: 94,227,833 Q53* probably null Het
Pdk2 T A 11: 95,028,586 M288L probably benign Het
Pkd1 A G 17: 24,573,815 Y1492C probably damaging Het
Pla2g12b T A 10: 59,403,870 W34R probably damaging Het
Pla2g6 T A 15: 79,299,094 D511V possibly damaging Het
Plin2 C A 4: 86,658,692 M265I probably benign Het
Prop1 A T 11: 50,950,946 M211K possibly damaging Het
Prr14l T A 5: 32,831,484 E222D probably damaging Het
Rtkn A T 6: 83,151,924 I454F probably damaging Het
Serinc2 T C 4: 130,260,774 I226V probably benign Het
Sh3bp1 T A 15: 78,904,338 H229Q probably benign Het
Slc13a3 G T 2: 165,424,573 F348L probably damaging Het
Slc6a15 T A 10: 103,404,275 probably benign Het
Spg7 G A 8: 123,076,978 G249E probably damaging Het
Tbc1d2 T C 4: 46,649,916 D40G probably benign Het
Tmcc2 A G 1: 132,357,579 L683P probably damaging Het
Triobp T C 15: 78,973,489 S1097P probably benign Het
Tspan9 T C 6: 127,965,763 D167G probably null Het
Ttll6 T C 11: 96,154,700 I581T probably benign Het
Usp29 A G 7: 6,963,353 probably null Het
Vgll4 A G 6: 114,862,293 W246R probably damaging Het
Vmn2r26 T C 6: 124,026,141 V170A probably benign Het
Vmn2r62 T C 7: 42,788,506 T185A probably benign Het
Vwce A G 19: 10,645,036 H234R possibly damaging Het
Zfp292 T C 4: 34,806,462 E2194G possibly damaging Het
Other mutations in Ppp6c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02066:Ppp6c APN 2 39199671 missense probably benign 0.22
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 On2015-04-16