Incidental Mutation 'R4295:Plpp4'
ID 323260
Institutional Source Beutler Lab
Gene Symbol Plpp4
Ensembl Gene ENSMUSG00000070366
Gene Name phospholipid phosphatase 4
Synonyms C030048B12Rik, LOC381925, Ppapdc1a
MMRRC Submission 041084-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R4295 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 128858755-128993136 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 128909356 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 22 (E22G)
Ref Sequence ENSEMBL: ENSMUSP00000145944 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094018] [ENSMUST00000205630] [ENSMUST00000205896]
AlphaFold Q0VBU9
Predicted Effect probably damaging
Transcript: ENSMUST00000094018
AA Change: E22G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000091557
Gene: ENSMUSG00000070366
AA Change: E22G

DomainStartEndE-ValueType
transmembrane domain 7 24 N/A INTRINSIC
acidPPc 83 222 2.39e-16 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000205630
AA Change: E22G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000205896
AA Change: E22G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206551
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206918
Meta Mutation Damage Score 0.4896 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T C 13: 119,606,249 (GRCm39) S164P probably benign Het
4933427D06Rik A G 6: 89,084,883 (GRCm39) noncoding transcript Het
Aldh1l2 C T 10: 83,331,784 (GRCm39) V674M possibly damaging Het
Angel1 A G 12: 86,767,057 (GRCm39) Y440H probably damaging Het
Atr A G 9: 95,756,479 (GRCm39) I870V probably benign Het
Cd200r4 T C 16: 44,653,239 (GRCm39) V3A probably damaging Het
Celf2 T C 2: 6,608,875 (GRCm39) N302S probably benign Het
Cip2a T A 16: 48,833,612 (GRCm39) F571Y probably benign Het
Dnah17 A T 11: 118,009,598 (GRCm39) I363N probably damaging Het
Fam98a A T 17: 75,848,342 (GRCm39) M124K probably damaging Het
Fhdc1 C A 3: 84,352,133 (GRCm39) V1031F probably benign Het
Foxj3 G T 4: 119,483,494 (GRCm39) G555* probably null Het
Gm4841 T C 18: 60,403,262 (GRCm39) N277S probably benign Het
Kcnv1 G A 15: 44,977,840 (GRCm39) T66M probably damaging Het
Kif18a T C 2: 109,123,398 (GRCm39) V224A probably benign Het
Lamb2 A G 9: 108,363,410 (GRCm39) D863G probably benign Het
Lbr C T 1: 181,648,267 (GRCm39) C398Y probably damaging Het
Lcn11 G A 2: 25,668,111 (GRCm39) A90T possibly damaging Het
Or14c46 A T 7: 85,918,968 (GRCm39) F10I probably damaging Het
Or2v2 T A 11: 49,004,254 (GRCm39) I100L probably benign Het
Or5m3 T C 2: 85,838,614 (GRCm39) Y165H probably benign Het
Or8d2b A G 9: 38,788,609 (GRCm39) I46V probably damaging Het
Or9a4 T A 6: 40,549,090 (GRCm39) F257I probably damaging Het
Pcdhb5 T A 18: 37,455,734 (GRCm39) S705T possibly damaging Het
Pcgf2 A T 11: 97,584,282 (GRCm39) Y24* probably null Het
Phf14 C T 6: 11,987,096 (GRCm39) P559S probably damaging Het
Pigf A G 17: 87,331,184 (GRCm39) I46T probably benign Het
Prdm10 A G 9: 31,227,590 (GRCm39) E65G possibly damaging Het
Sash1 A G 10: 8,606,006 (GRCm39) S795P possibly damaging Het
Slc22a21 T C 11: 53,860,329 (GRCm39) D34G probably damaging Het
Spata13 T A 14: 60,947,004 (GRCm39) M684K probably damaging Het
Srsf6 T C 2: 162,776,636 (GRCm39) probably benign Het
Stk32c T C 7: 138,700,704 (GRCm39) probably null Het
Tjp1 T C 7: 64,972,898 (GRCm39) D514G probably damaging Het
Ttll11 TCGCCGCCGCCGCCGCCGCCGC TCGCCGCCGCCGCCGCCGC 2: 35,869,564 (GRCm39) probably benign Het
Unc13c A G 9: 73,641,786 (GRCm39) S1236P probably damaging Het
Utp20 G T 10: 88,590,381 (GRCm39) D2364E possibly damaging Het
Vmn1r192 T A 13: 22,371,465 (GRCm39) I252F probably damaging Het
Vmn1r76 T C 7: 11,665,057 (GRCm39) I52M probably benign Het
Xndc1 T A 7: 101,730,694 (GRCm39) L288M possibly damaging Het
Zfp451 A T 1: 33,816,836 (GRCm39) F154L probably damaging Het
Other mutations in Plpp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00661:Plpp4 APN 7 128,918,023 (GRCm39) missense probably damaging 1.00
IGL00885:Plpp4 APN 7 128,923,257 (GRCm39) missense probably damaging 1.00
R0016:Plpp4 UTSW 7 128,925,148 (GRCm39) missense probably damaging 1.00
R0369:Plpp4 UTSW 7 128,925,190 (GRCm39) missense probably damaging 1.00
R2149:Plpp4 UTSW 7 128,981,095 (GRCm39) missense probably benign 0.08
R4290:Plpp4 UTSW 7 128,909,356 (GRCm39) missense probably damaging 1.00
R4293:Plpp4 UTSW 7 128,909,356 (GRCm39) missense probably damaging 1.00
R4439:Plpp4 UTSW 7 128,858,813 (GRCm39) start gained probably benign
R5185:Plpp4 UTSW 7 128,918,028 (GRCm39) missense probably damaging 1.00
R6984:Plpp4 UTSW 7 128,992,616 (GRCm39) missense possibly damaging 0.76
R7122:Plpp4 UTSW 7 128,981,207 (GRCm39) missense unknown
R8048:Plpp4 UTSW 7 128,981,201 (GRCm39) missense unknown
R8854:Plpp4 UTSW 7 128,909,362 (GRCm39) nonsense probably null
R8926:Plpp4 UTSW 7 128,923,211 (GRCm39) critical splice acceptor site probably null
R8994:Plpp4 UTSW 7 128,981,157 (GRCm39) missense probably damaging 0.99
R9575:Plpp4 UTSW 7 128,925,211 (GRCm39) missense probably benign 0.06
Z1177:Plpp4 UTSW 7 128,981,201 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- ACTGGCTGAGGCTCATCATC -3'
(R):5'- TCAATTGGATGCGCTACCTTC -3'

Sequencing Primer
(F):5'- TGAGGCTCATCATCAGAGGCTC -3'
(R):5'- ACTGTCTTCAGCCTAGCACAG -3'
Posted On 2015-06-20