Incidental Mutation 'R3808:Ppp4c'
ID 275036
Institutional Source Beutler Lab
Gene Symbol Ppp4c
Ensembl Gene ENSMUSG00000030697
Gene Name protein phosphatase 4, catalytic subunit
Synonyms 1110002D08Rik, PPX
MMRRC Submission 040765-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3808 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 126385038-126391668 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 126386499 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 166 (G166D)
Ref Sequence ENSEMBL: ENSMUSP00000146245 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032936] [ENSMUST00000094037] [ENSMUST00000172352] [ENSMUST00000205786] [ENSMUST00000206353] [ENSMUST00000206570] [ENSMUST00000205935]
AlphaFold P97470
Predicted Effect probably damaging
Transcript: ENSMUST00000032936
AA Change: G166D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032936
Gene: ENSMUSG00000030697
AA Change: G166D

DomainStartEndE-ValueType
PP2Ac 20 290 4.04e-147 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000094037
SMART Domains Protein: ENSMUSP00000091579
Gene: ENSMUSG00000030699

DomainStartEndE-ValueType
low complexity region 55 75 N/A INTRINSIC
TBOX 90 278 1.79e-128 SMART
low complexity region 332 348 N/A INTRINSIC
low complexity region 414 428 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172352
SMART Domains Protein: ENSMUSP00000126418
Gene: ENSMUSG00000030699

DomainStartEndE-ValueType
low complexity region 55 75 N/A INTRINSIC
TBOX 90 278 1.79e-128 SMART
low complexity region 333 349 N/A INTRINSIC
low complexity region 415 429 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000205786
AA Change: G16D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205862
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205879
Predicted Effect probably damaging
Transcript: ENSMUST00000206353
AA Change: G65D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000206477
AA Change: G4D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000206570
AA Change: G166D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206261
Predicted Effect probably benign
Transcript: ENSMUST00000205935
Predicted Effect probably benign
Transcript: ENSMUST00000206334
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205950
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.8%
Validation Efficiency
MGI Phenotype PHENOTYPE: Embryonic Ppp4c-deficiency leads to early embryonic lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Aldh3a2 G T 11: 61,149,623 (GRCm39) L248M probably damaging Het
Als2 A G 1: 59,209,609 (GRCm39) S1458P probably benign Het
Aoc1l3 C T 6: 48,964,928 (GRCm39) P312L possibly damaging Het
Arhgap5 A G 12: 52,613,970 (GRCm39) E192G possibly damaging Het
Atg2a A G 19: 6,302,846 (GRCm39) K1019R possibly damaging Het
Atp2b1 A G 10: 98,839,010 (GRCm39) K613E possibly damaging Het
Carm1 T C 9: 21,498,258 (GRCm39) C421R probably damaging Het
Cdh17 A T 4: 11,795,671 (GRCm39) Y417F probably damaging Het
Cers1 A G 8: 70,782,660 (GRCm39) D10G possibly damaging Het
Clptm1l A C 13: 73,760,573 (GRCm39) M319L probably benign Het
Cntnap3 A G 13: 64,929,618 (GRCm39) V527A probably damaging Het
Creb3l2 A G 6: 37,332,625 (GRCm39) S290P probably damaging Het
Dock4 T G 12: 40,722,809 (GRCm39) V305G probably damaging Het
Dtl A C 1: 191,280,466 (GRCm39) L356R probably damaging Het
Eftud2 A T 11: 102,732,289 (GRCm39) probably null Het
Eif2b4 A G 5: 31,348,512 (GRCm39) S88P possibly damaging Het
Fat4 T G 3: 39,036,587 (GRCm39) V3413G possibly damaging Het
Fgfr2 T C 7: 129,801,578 (GRCm39) M218V probably benign Het
Grin2b A G 6: 135,900,269 (GRCm39) L204P probably damaging Het
Kcnj12 A G 11: 60,961,103 (GRCm39) N467S probably benign Het
Klhdc3 T A 17: 46,988,858 (GRCm39) N111Y possibly damaging Het
Lin9 A G 1: 180,486,676 (GRCm39) I81V probably null Het
Lrp2 T C 2: 69,331,892 (GRCm39) D1621G probably damaging Het
Lrp4 T A 2: 91,307,047 (GRCm39) D389E probably damaging Het
Med15 C T 16: 17,473,598 (GRCm39) probably benign Het
Nbea T C 3: 55,625,269 (GRCm39) N2274S probably benign Het
Nr3c2 G A 8: 77,635,343 (GRCm39) G148D probably damaging Het
Or10s1 A T 9: 39,985,605 (GRCm39) M5L probably benign Het
Or14j6 T C 17: 38,214,464 (GRCm39) V9A probably benign Het
Or4c112 G T 2: 88,853,770 (GRCm39) H192Q probably benign Het
Paxip1 A G 5: 27,977,027 (GRCm39) probably benign Het
Pfas T C 11: 68,880,779 (GRCm39) probably benign Het
Plin3 C A 17: 56,593,275 (GRCm39) A96S probably damaging Het
Pnck T A X: 72,700,550 (GRCm39) I288F probably damaging Het
Prss43 A T 9: 110,656,840 (GRCm39) R115S probably damaging Het
Rassf2 T C 2: 131,840,180 (GRCm39) probably null Het
Rdh16f1 T A 10: 127,624,568 (GRCm39) D135E probably benign Het
Rdh16f1 G A 10: 127,624,569 (GRCm39) V136M probably damaging Het
Rgs12 A G 5: 35,189,698 (GRCm39) E702G probably damaging Het
Rnf213 A G 11: 119,370,384 (GRCm39) K4728E probably damaging Het
Ros1 T G 10: 51,996,944 (GRCm39) T1243P probably benign Het
Sall1 G A 8: 89,758,101 (GRCm39) Q668* probably null Het
Sbf2 C A 7: 110,088,487 (GRCm39) *45L probably null Het
Serpina3j A T 12: 104,286,086 (GRCm39) I414F probably benign Het
Sh2d3c T C 2: 32,636,108 (GRCm39) Y159H probably damaging Het
Slamf1 A G 1: 171,625,745 (GRCm39) D307G probably null Het
Slc22a13 T C 9: 119,025,143 (GRCm39) T178A probably benign Het
Smchd1 A T 17: 71,736,536 (GRCm39) L588H probably damaging Het
Trim12a G A 7: 103,956,201 (GRCm39) A113V probably benign Het
Vil1 T C 1: 74,466,772 (GRCm39) V654A probably benign Het
Vmn1r202 T C 13: 22,686,070 (GRCm39) T116A possibly damaging Het
Zfp267 T G 3: 36,219,792 (GRCm39) probably null Het
Zfp607a G A 7: 27,578,826 (GRCm39) R632H probably benign Het
Other mutations in Ppp4c
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0030:Ppp4c UTSW 7 126,387,605 (GRCm39) missense possibly damaging 0.93
R0601:Ppp4c UTSW 7 126,386,460 (GRCm39) missense probably benign 0.01
R0602:Ppp4c UTSW 7 126,388,254 (GRCm39) splice site probably benign
R1187:Ppp4c UTSW 7 126,385,372 (GRCm39) missense probably benign 0.02
R1244:Ppp4c UTSW 7 126,385,452 (GRCm39) missense probably damaging 0.96
R1346:Ppp4c UTSW 7 126,391,222 (GRCm39) splice site probably benign
R1878:Ppp4c UTSW 7 126,386,779 (GRCm39) missense probably damaging 1.00
R1892:Ppp4c UTSW 7 126,385,452 (GRCm39) missense probably damaging 0.96
R2072:Ppp4c UTSW 7 126,386,520 (GRCm39) critical splice acceptor site probably null
R2313:Ppp4c UTSW 7 126,386,629 (GRCm39) missense probably damaging 0.99
R2863:Ppp4c UTSW 7 126,391,272 (GRCm39) missense probably damaging 0.98
R2865:Ppp4c UTSW 7 126,391,272 (GRCm39) missense probably damaging 0.98
R3809:Ppp4c UTSW 7 126,386,499 (GRCm39) missense probably damaging 1.00
R4290:Ppp4c UTSW 7 126,391,231 (GRCm39) critical splice donor site probably null
R4504:Ppp4c UTSW 7 126,386,637 (GRCm39) missense probably damaging 1.00
R5001:Ppp4c UTSW 7 126,386,709 (GRCm39) missense probably damaging 1.00
R7194:Ppp4c UTSW 7 126,385,653 (GRCm39) missense probably damaging 1.00
R7490:Ppp4c UTSW 7 126,386,504 (GRCm39) missense probably damaging 1.00
R8121:Ppp4c UTSW 7 126,386,496 (GRCm39) missense probably damaging 1.00
R8886:Ppp4c UTSW 7 126,386,466 (GRCm39) missense probably damaging 1.00
R9123:Ppp4c UTSW 7 126,386,739 (GRCm39) missense probably damaging 1.00
R9125:Ppp4c UTSW 7 126,386,739 (GRCm39) missense probably damaging 1.00
R9155:Ppp4c UTSW 7 126,386,419 (GRCm39) missense possibly damaging 0.79
Predicted Primers PCR Primer
(F):5'- AGTGTGGACCAACTTTGCC -3'
(R):5'- GGCGCTACTGTACTGAGATC -3'

Sequencing Primer
(F):5'- CAAGCTATCCTGGCCTGAC -3'
(R):5'- GCGCTACTGTACTGAGATCTTTGAC -3'
Posted On 2015-04-02