Incidental Mutation 'IGL02551:Ppp6c'
ID 298109
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp6c
Ensembl Gene ENSMUSG00000026753
Gene Name protein phosphatase 6, catalytic subunit
Synonyms 2310003C10Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02551
Quality Score
Status
Chromosome 2
Chromosomal Location 39084381-39116361 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 39096669 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9CQR6
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: 158,796,618 (GRCm39) noncoding transcript Het
Abca8a T C 11: 109,975,068 (GRCm39) I109V probably benign Het
Acsm2 C T 7: 119,172,507 (GRCm39) P117S probably damaging Het
Adamts18 C A 8: 114,425,704 (GRCm39) C1186F probably damaging Het
Adamts5 A T 16: 85,666,926 (GRCm39) V522E possibly damaging Het
Adcy10 A G 1: 165,370,802 (GRCm39) T694A probably damaging Het
Adgra2 G A 8: 27,609,250 (GRCm39) V609I probably benign Het
Agbl3 A G 6: 34,800,006 (GRCm39) K638R possibly damaging Het
Alpk2 T A 18: 65,505,822 (GRCm39) N66I probably damaging Het
Ap3b1 T A 13: 94,554,599 (GRCm39) I245N probably damaging Het
Aqp9 A G 9: 71,039,922 (GRCm39) V120A probably damaging Het
Arhgef17 T C 7: 100,579,553 (GRCm39) E465G probably damaging Het
Btrc G T 19: 45,411,573 (GRCm39) C31F possibly damaging Het
Calhm2 G A 19: 47,121,539 (GRCm39) S210L probably damaging Het
Cnksr3 C A 10: 7,102,912 (GRCm39) K153N probably damaging Het
Cnr1 T C 4: 33,943,686 (GRCm39) S25P probably benign Het
Dnajc6 T A 4: 101,496,550 (GRCm39) W838R probably damaging Het
Fam78a T A 2: 31,959,568 (GRCm39) T181S probably damaging Het
Fat1 A G 8: 45,504,435 (GRCm39) T4600A probably damaging Het
Fbxo31 A T 8: 122,293,083 (GRCm39) Y101N probably damaging Het
Glmp A G 3: 88,232,389 (GRCm39) M1V probably null Het
Gsdmc T A 15: 63,673,782 (GRCm39) T168S probably benign Het
Has1 C T 17: 18,068,560 (GRCm39) V265I probably damaging Het
Hmcn2 A G 2: 31,344,823 (GRCm39) D4670G possibly damaging Het
Kcnj4 C T 15: 79,369,103 (GRCm39) M292I probably benign Het
Kmo A T 1: 175,465,485 (GRCm39) S80C probably damaging Het
Lrrc8d C T 5: 105,961,414 (GRCm39) T608I possibly damaging Het
Mical2 A T 7: 111,923,197 (GRCm39) N635I probably benign Het
Nags T C 11: 102,038,767 (GRCm39) S403P probably damaging Het
Nalcn T A 14: 123,560,750 (GRCm39) I776F probably benign Het
Ncan A T 8: 70,555,112 (GRCm39) N1018K probably damaging Het
Notch3 T A 17: 32,373,705 (GRCm39) probably benign Het
Nup93 C T 8: 94,954,461 (GRCm39) Q53* probably null Het
Pdk2 T A 11: 94,919,412 (GRCm39) M288L probably benign Het
Pkd1 A G 17: 24,792,789 (GRCm39) Y1492C probably damaging Het
Pla2g12b T A 10: 59,239,692 (GRCm39) W34R probably damaging Het
Pla2g6 T A 15: 79,183,294 (GRCm39) D511V possibly damaging Het
Plin2 C A 4: 86,576,929 (GRCm39) M265I probably benign Het
Prop1 A T 11: 50,841,773 (GRCm39) M211K possibly damaging Het
Prr14l T A 5: 32,988,828 (GRCm39) E222D probably damaging Het
Rtkn A T 6: 83,128,905 (GRCm39) I454F probably damaging Het
Serinc2 T C 4: 130,154,567 (GRCm39) I226V probably benign Het
Sh3bp1 T A 15: 78,788,538 (GRCm39) H229Q probably benign Het
Slc13a3 G T 2: 165,266,493 (GRCm39) F348L probably damaging Het
Slc6a15 T A 10: 103,240,136 (GRCm39) probably benign Het
Spg7 G A 8: 123,803,717 (GRCm39) G249E probably damaging Het
Tbc1d2 T C 4: 46,649,916 (GRCm39) D40G probably benign Het
Tmcc2 A G 1: 132,285,317 (GRCm39) L683P probably damaging Het
Triobp T C 15: 78,857,689 (GRCm39) S1097P probably benign Het
Tspan9 T C 6: 127,942,726 (GRCm39) D167G probably null Het
Ttll6 T C 11: 96,045,526 (GRCm39) I581T probably benign Het
Usp29 A G 7: 6,966,352 (GRCm39) probably null Het
Vgll4 A G 6: 114,839,254 (GRCm39) W246R probably damaging Het
Vmn2r26 T C 6: 124,003,100 (GRCm39) V170A probably benign Het
Vmn2r62 T C 7: 42,437,930 (GRCm39) T185A probably benign Het
Vwce A G 19: 10,622,400 (GRCm39) H234R possibly damaging Het
Zfp292 T C 4: 34,806,462 (GRCm39) E2194G possibly damaging Het
Other mutations in Ppp6c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02066:Ppp6c APN 2 39,089,683 (GRCm39) missense probably benign 0.22
IGL02967:Ppp6c APN 2 39,116,229 (GRCm39) missense probably damaging 0.98
Pepperoncino UTSW 2 39,090,052 (GRCm39) critical splice donor site probably null
R0399:Ppp6c UTSW 2 39,090,136 (GRCm39) splice site probably benign
R0506:Ppp6c UTSW 2 39,096,660 (GRCm39) intron probably benign
R2061:Ppp6c UTSW 2 39,116,186 (GRCm39) missense probably damaging 0.99
R2180:Ppp6c UTSW 2 39,087,525 (GRCm39) missense probably benign 0.01
R5625:Ppp6c UTSW 2 39,087,453 (GRCm39) missense probably benign
R5822:Ppp6c UTSW 2 39,090,064 (GRCm39) nonsense probably null
R5994:Ppp6c UTSW 2 39,101,004 (GRCm39) missense possibly damaging 0.95
R6785:Ppp6c UTSW 2 39,087,593 (GRCm39) missense probably benign 0.00
R7346:Ppp6c UTSW 2 39,116,229 (GRCm39) missense probably damaging 0.98
R9069:Ppp6c UTSW 2 39,094,928 (GRCm39) missense probably damaging 1.00
R9344:Ppp6c UTSW 2 39,090,052 (GRCm39) critical splice donor site probably null
Posted On 2015-04-16