Incidental Mutation 'R4293:Plpp4'
ID 323166
Institutional Source Beutler Lab
Gene Symbol Plpp4
Ensembl Gene ENSMUSG00000070366
Gene Name phospholipid phosphatase 4
Synonyms C030048B12Rik, LOC381925, Ppapdc1a
MMRRC Submission 041082-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R4293 (G1)
Quality Score 225
Status 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: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.2%
Validation Efficiency 98% (60/61)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn3 T C 19: 4,915,468 (GRCm39) E428G probably benign Het
Arfgef2 T C 2: 166,732,211 (GRCm39) I1600T probably benign Het
Arid3b A T 9: 57,697,713 (GRCm39) probably benign Het
Asgr2 C A 11: 69,989,057 (GRCm39) T167K probably benign Het
Atf6b T A 17: 34,871,648 (GRCm39) M428K probably benign Het
Atpaf1 A T 4: 115,645,556 (GRCm39) M142L probably benign Het
Bivm A T 1: 44,177,793 (GRCm39) R364S probably damaging Het
Bms1 T C 6: 118,382,308 (GRCm39) probably null Het
Brwd1 G A 16: 95,818,804 (GRCm39) P1343S probably damaging Het
Cdca2 T C 14: 67,952,299 (GRCm39) D24G probably benign Het
Celsr2 T C 3: 108,300,993 (GRCm39) R2767G probably benign Het
Cip2a T A 16: 48,833,612 (GRCm39) F571Y probably benign Het
Cyp2c55 A T 19: 39,000,235 (GRCm39) I145F probably damaging Het
Ddx18 T C 1: 121,489,121 (GRCm39) T309A probably benign Het
Dlg3 A T X: 99,840,288 (GRCm39) probably benign Het
Fbf1 A G 11: 116,039,720 (GRCm39) L713P probably damaging Het
Fhdc1 C A 3: 84,352,133 (GRCm39) V1031F probably benign Het
Fnbp1 A G 2: 30,995,362 (GRCm39) F24S probably damaging Het
Gm16686 A T 4: 88,673,710 (GRCm39) probably benign Het
Gmps A G 3: 63,898,040 (GRCm39) M275V probably damaging Het
Igdcc4 A G 9: 65,031,892 (GRCm39) probably null 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
Lbr C T 1: 181,648,267 (GRCm39) C398Y probably damaging Het
Lmf1 T C 17: 25,873,455 (GRCm39) L320P probably damaging Het
Mapkapk3 T C 9: 107,136,131 (GRCm39) probably benign Het
Mettl18 A G 1: 163,824,171 (GRCm39) D164G probably damaging Het
Myo5a A T 9: 75,051,453 (GRCm39) T349S probably benign Het
Or1ad6 T C 11: 50,860,253 (GRCm39) M136T probably damaging Het
Or8d2b A G 9: 38,788,609 (GRCm39) I46V probably damaging Het
Pcdhb5 T A 18: 37,455,734 (GRCm39) S705T possibly damaging Het
Phf14 C T 6: 11,987,096 (GRCm39) P559S probably damaging Het
Pik3c3 G A 18: 30,477,043 (GRCm39) A855T probably damaging Het
Rev1 A T 1: 38,147,500 (GRCm39) D13E possibly damaging Het
Sec16a A G 2: 26,312,167 (GRCm39) Y1998H probably benign Het
Slc4a5 C T 6: 83,237,511 (GRCm39) R165C probably damaging Het
Slfn10-ps T C 11: 82,926,260 (GRCm39) noncoding transcript Het
Slfn9 T C 11: 82,873,334 (GRCm39) N523S probably benign 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
Tenm3 T C 8: 48,848,693 (GRCm39) T49A probably damaging Het
Tep1 T C 14: 51,084,318 (GRCm39) I954V probably benign Het
Tmem237 A G 1: 59,158,995 (GRCm39) probably benign Het
Vmn2r101 A T 17: 19,832,303 (GRCm39) R766S probably damaging Het
Vwce A G 19: 10,636,996 (GRCm39) T693A probably benign Het
Xpr1 A G 1: 155,188,542 (GRCm39) F366S possibly damaging Het
Zfp317 A G 9: 19,557,990 (GRCm39) probably null 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
R4295: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'- AGGATGCTAGAGTCTCTGTTGC -3'
(R):5'- ACTGTCTTCAGCCTAGCACAG -3'

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