Incidental Mutation 'R1187:Ppp4c'
ID 102261
Institutional Source Beutler Lab
Gene Symbol Ppp4c
Ensembl Gene ENSMUSG00000030697
Gene Name protein phosphatase 4, catalytic subunit
Synonyms 1110002D08Rik, PPX
MMRRC Submission 039259-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1187 (G1)
Quality Score 211
Status Not validated
Chromosome 7
Chromosomal Location 126385038-126391668 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 126385372 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 296 (I296F)
Ref Sequence ENSEMBL: ENSMUSP00000146245 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032936] [ENSMUST00000094037] [ENSMUST00000172352] [ENSMUST00000205786] [ENSMUST00000206570] [ENSMUST00000205935] [ENSMUST00000206353]
AlphaFold P97470
Predicted Effect probably benign
Transcript: ENSMUST00000032936
AA Change: I296F

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000032936
Gene: ENSMUSG00000030697
AA Change: I296F

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 benign
Transcript: ENSMUST00000205786
AA Change: I146F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205862
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205879
Predicted Effect probably benign
Transcript: ENSMUST00000206570
AA Change: I296F

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000206477
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205950
Predicted Effect probably benign
Transcript: ENSMUST00000206334
Predicted Effect probably benign
Transcript: ENSMUST00000205935
Predicted Effect probably benign
Transcript: ENSMUST00000206353
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206261
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.1%
  • 20x: 89.2%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 G T 11: 9,478,981 (GRCm39) M4276I probably benign Het
Apol7b A T 15: 77,307,603 (GRCm39) F297L possibly damaging Het
Capsl C T 15: 9,457,807 (GRCm39) R9W probably damaging Het
Catsperb T C 12: 101,591,991 (GRCm39) V1107A probably benign Het
Cip2a T A 16: 48,820,656 (GRCm39) N132K probably damaging Het
Clca3a1 T C 3: 144,715,504 (GRCm39) I544M probably benign Het
Cma2 T C 14: 56,210,280 (GRCm39) V55A probably benign Het
Col10a1 A T 10: 34,270,834 (GRCm39) I269F probably benign Het
Col26a1 G A 5: 136,773,020 (GRCm39) H385Y probably damaging Het
Ctdp1 A G 18: 80,492,702 (GRCm39) Y598H probably damaging Het
Dnajc1 A G 2: 18,289,520 (GRCm39) S296P probably benign Het
Dvl2 A T 11: 69,896,962 (GRCm39) T250S probably benign Het
Etv1 A G 12: 38,915,563 (GRCm39) Y410C probably damaging Het
Krcc1 A T 6: 71,261,612 (GRCm39) K215* probably null Het
Lrr1 A T 12: 69,221,796 (GRCm39) T313S probably benign Het
Lrrc7 T A 3: 157,866,039 (GRCm39) E1234V probably damaging Het
Mepe G A 5: 104,486,114 (GRCm39) R418H probably damaging Het
Myrfl G A 10: 116,667,447 (GRCm39) T331I probably damaging Het
Nbeal1 T C 1: 60,233,687 (GRCm39) W26R probably damaging Het
Nsrp1 G A 11: 76,936,853 (GRCm39) P448S probably benign Het
Ofcc1 C T 13: 40,362,305 (GRCm39) G206R probably benign Het
Olfml2a A G 2: 38,849,825 (GRCm39) N514D probably damaging Het
Or2l5 T C 16: 19,333,796 (GRCm39) T197A probably benign Het
Or2y17 T G 11: 49,231,417 (GRCm39) D19E probably damaging Het
Pcdhb1 C T 18: 37,398,597 (GRCm39) R183C probably damaging Het
Phf14 T G 6: 11,941,495 (GRCm39) C41G probably damaging Het
Pkhd1l1 T C 15: 44,361,447 (GRCm39) V499A possibly damaging Het
Plcb4 A G 2: 135,810,314 (GRCm39) I638V probably benign Het
Prkdc T C 16: 15,577,610 (GRCm39) V2388A probably damaging Het
Rgl1 T C 1: 152,420,184 (GRCm39) D353G probably benign Het
Rnf19b T G 4: 128,969,360 (GRCm39) probably null Het
Ryr3 C T 2: 112,788,521 (GRCm39) D190N probably damaging Het
Sdk2 C T 11: 113,729,472 (GRCm39) silent Het
Sema3e G A 5: 14,282,098 (GRCm39) M411I probably damaging Het
Sgsh A T 11: 119,237,404 (GRCm39) Y403* probably null Het
Sh2d7 T A 9: 54,448,471 (GRCm39) L164Q probably benign Het
Slfn8 A T 11: 82,894,314 (GRCm39) V775E probably damaging Het
Smgc G A 15: 91,744,798 (GRCm39) G287S probably damaging Het
Soat1 T A 1: 156,261,745 (GRCm39) Y421F probably damaging Het
Sri T C 5: 8,109,416 (GRCm39) Y52H probably damaging Het
Stat4 C A 1: 52,115,836 (GRCm39) Q259K probably damaging Het
Trpm5 A G 7: 142,628,206 (GRCm39) L1023P probably damaging Het
Ush1c T A 7: 45,858,338 (GRCm39) N650I probably benign Het
Vmn2r8 G T 5: 108,951,085 (GRCm39) S120* probably null Het
Zbed6 G A 1: 133,586,941 (GRCm39) T132I probably damaging Het
Zbtb14 C A 17: 69,695,497 (GRCm39) F398L probably damaging Het
Zfp629 A G 7: 127,209,401 (GRCm39) S803P probably benign Het
Zfp629 T C 7: 127,211,059 (GRCm39) K250R probably damaging Het
Zfp758 T A 17: 22,594,171 (GRCm39) I187N probably benign Het
Zfp85 T A 13: 67,897,835 (GRCm39) K79I probably damaging 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
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
R3808:Ppp4c UTSW 7 126,386,499 (GRCm39) missense probably damaging 1.00
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'- ACAAGCAGAGCAGGTCTCCATGTC -3'
(R):5'- CGTGCCCACCAATTAGTGATGGAAG -3'

Sequencing Primer
(F):5'- CCTGACAGAACCTAAGTCTATTTTTC -3'
(R):5'- TCAATGAGACCGTGCTTACTG -3'
Posted On 2014-01-15