Incidental Mutation 'R5822:Ppp6c'
ID 449963
Institutional Source Beutler Lab
Gene Symbol Ppp6c
Ensembl Gene ENSMUSG00000026753
Gene Name protein phosphatase 6, catalytic subunit
Synonyms 2310003C10Rik
MMRRC Submission 044052-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5822 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 39084381-39116361 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 39090064 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 81 (Q81*)
Ref Sequence ENSEMBL: ENSMUSP00000145064 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028087] [ENSMUST00000204257] [ENSMUST00000204368] [ENSMUST00000204701]
AlphaFold Q9CQR6
Predicted Effect possibly damaging
Transcript: ENSMUST00000028087
AA Change: T150I

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000028087
Gene: ENSMUSG00000026753
AA Change: T150I

DomainStartEndE-ValueType
PP2Ac 19 289 3.36e-144 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143733
Predicted Effect probably null
Transcript: ENSMUST00000204257
AA Change: Q81*
SMART Domains Protein: ENSMUSP00000145064
Gene: ENSMUSG00000026753
AA Change: Q81*

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 possibly damaging
Transcript: ENSMUST00000204368
AA Change: T72I

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000145393
Gene: ENSMUSG00000026753
AA Change: T72I

DomainStartEndE-ValueType
PP2Ac 1 84 2.5e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000204701
AA Change: T128I

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000145157
Gene: ENSMUSG00000026753
AA Change: T128I

DomainStartEndE-ValueType
PP2Ac 19 267 1.94e-117 SMART
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 96% (54/56)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553M12Rik T C 4: 88,786,596 (GRCm39) I7M unknown Het
Abca8a C T 11: 109,921,705 (GRCm39) E1450K probably damaging Het
B4galnt2 T C 11: 95,756,985 (GRCm39) Y482C probably damaging Het
Bud23 A G 5: 135,092,775 (GRCm39) F9L probably damaging Het
Cacna1s A T 1: 136,039,816 (GRCm39) E1214V probably damaging Het
Cdh20 T C 1: 104,861,823 (GRCm39) M1T probably null Het
Chkb T C 15: 89,313,715 (GRCm39) E30G probably benign Het
Crp A C 1: 172,525,635 (GRCm39) probably benign Het
Cyp11b1 T C 15: 74,708,670 (GRCm39) R375G probably null Het
Ddx11 C T 17: 66,436,976 (GRCm39) S90L probably benign Het
Flnc A C 6: 29,459,429 (GRCm39) I2510L probably damaging Het
Ftdc1 C A 16: 58,436,075 (GRCm39) probably null Het
Fyb1 T A 15: 6,692,707 (GRCm39) probably benign Het
Gbp3 C T 3: 142,272,239 (GRCm39) P247L probably benign Het
Ggn C T 7: 28,871,981 (GRCm39) P454S probably damaging Het
Herc1 T A 9: 66,352,894 (GRCm39) S2127T probably benign Het
Ipo11 A G 13: 106,984,926 (GRCm39) probably benign Het
Kcnh7 G A 2: 62,546,582 (GRCm39) R1000W probably benign Het
Kdm5b A T 1: 134,516,511 (GRCm39) probably benign Het
Klc3 C T 7: 19,129,724 (GRCm39) probably null Het
Lst1 A T 17: 35,407,359 (GRCm39) M3K unknown Het
Madd C T 2: 90,982,878 (GRCm39) R1355Q probably damaging Het
Map3k10 A G 7: 27,356,159 (GRCm39) L920P probably damaging Het
Mdga2 A G 12: 66,702,109 (GRCm39) V423A probably damaging Het
Mogat2 T C 7: 98,869,112 (GRCm39) D302G possibly damaging Het
Nkapl A C 13: 21,652,593 (GRCm39) S7A unknown Het
Npas2 A G 1: 39,386,647 (GRCm39) S639G probably benign Het
Nr1h5 T G 3: 102,856,644 (GRCm39) H260P probably damaging Het
Or2g25 T C 17: 37,971,122 (GRCm39) Y34C probably damaging Het
Or2t49 A T 11: 58,392,464 (GRCm39) L306Q possibly damaging Het
Or4c35 T C 2: 89,808,787 (GRCm39) S222P probably damaging Het
Or7a36 C T 10: 78,820,023 (GRCm39) T133I possibly damaging Het
Or8a1b T C 9: 37,623,087 (GRCm39) M163V probably benign Het
Pan2 T C 10: 128,156,249 (GRCm39) L1142P probably damaging Het
Pdik1l C T 4: 134,014,474 (GRCm39) E11K possibly damaging Het
Ppp1r15a A G 7: 45,172,727 (GRCm39) V555A probably damaging Het
Pramel18 A G 4: 101,767,440 (GRCm39) M230V probably damaging Het
Ptprz1 A T 6: 23,001,444 (GRCm39) Y1178F probably benign Het
Relch G A 1: 105,646,581 (GRCm39) V660M probably damaging Het
Rictor G A 15: 6,823,487 (GRCm39) E1555K probably benign Het
Rims2 T A 15: 39,339,886 (GRCm39) L860Q probably damaging Het
Sdr39u1 A G 14: 56,135,196 (GRCm39) V249A probably benign Het
Serhl T C 15: 83,000,528 (GRCm39) V305A probably benign Het
Slc5a11 T C 7: 122,851,654 (GRCm39) I201T probably damaging Het
Stk32a A T 18: 43,446,552 (GRCm39) E334V probably benign Het
Tmem217 A G 17: 29,745,529 (GRCm39) L67P probably damaging Het
Tnnt1 A T 7: 4,519,345 (GRCm39) L12* probably null Het
Trim80 C T 11: 115,338,747 (GRCm39) R526C probably damaging Het
Unc5b A T 10: 60,608,306 (GRCm39) F635I possibly damaging Het
Utp20 T G 10: 88,653,147 (GRCm39) N311T probably benign Het
Zfp276 A G 8: 123,982,457 (GRCm39) T74A probably benign Het
Other mutations in Ppp6c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02066:Ppp6c APN 2 39,089,683 (GRCm39) missense probably benign 0.22
IGL02551:Ppp6c APN 2 39,096,669 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TGATATCAGGAGATAAACCGCC -3'
(R):5'- TTAAGCACCTGCCACTGAGC -3'

Sequencing Primer
(F):5'- TATCAGGAGATAAACCGCCATGAAC -3'
(R):5'- GAGCTATATCCCAGTCTTCATCAGG -3'
Posted On 2016-12-20