Incidental Mutation 'IGL00885:Plpp4'
ID 27741
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plpp4
Ensembl Gene ENSMUSG00000070366
Gene Name phospholipid phosphatase 4
Synonyms C030048B12Rik, LOC381925, Ppapdc1a
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # IGL00885
Quality Score
Status
Chromosome 7
Chromosomal Location 129257031-129391412 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 129321533 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 101 (I101F)
Ref Sequence ENSEMBL: ENSMUSP00000145944 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094018] [ENSMUST00000205630] [ENSMUST00000205896]
AlphaFold Q0VBU9
Predicted Effect possibly damaging
Transcript: ENSMUST00000094018
AA Change: I101F

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000091557
Gene: ENSMUSG00000070366
AA Change: I101F

DomainStartEndE-ValueType
transmembrane domain 7 24 N/A INTRINSIC
acidPPc 83 222 2.39e-16 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000205630
AA Change: I101F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000205896
AA Change: I101F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206551
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf2 A T 17: 42,714,315 probably benign Het
Adora2a T G 10: 75,333,451 F250V probably damaging Het
Atp8b5 T C 4: 43,355,567 S516P probably damaging Het
Btbd16 A G 7: 130,788,822 I150V probably damaging Het
Capn13 A T 17: 73,339,425 I331N possibly damaging Het
Capzb A G 4: 139,287,050 S233G probably benign Het
Clasp2 A G 9: 113,911,416 R1171G probably damaging Het
Col16a1 T G 4: 130,096,910 I1419S probably damaging Het
Coro7 T A 16: 4,635,026 Y286F probably benign Het
Crygd C T 1: 65,062,091 R115Q probably benign Het
Cyp11b2 T C 15: 74,853,515 T252A probably benign Het
Daam1 T A 12: 71,944,091 C160S unknown Het
Ephx4 T C 5: 107,406,125 probably benign Het
Fbxo47 A T 11: 97,878,120 D63E probably benign Het
Fgf3 A T 7: 144,840,784 probably benign Het
Fstl4 C T 11: 53,148,982 T331I possibly damaging Het
Gm597 T C 1: 28,776,845 E702G unknown Het
Gpr158 T C 2: 21,649,021 F467S probably damaging Het
Igfbpl1 C T 4: 45,826,478 V106I probably damaging Het
Ikzf2 T C 1: 69,539,322 T271A possibly damaging Het
Kat14 T A 2: 144,394,255 N302K probably benign Het
Kmt2c G T 5: 25,409,171 Q184K possibly damaging Het
Moxd2 A G 6: 40,884,179 probably benign Het
Nbeal2 C A 9: 110,638,661 E479D probably damaging Het
Neo1 A G 9: 58,888,463 L1231P probably damaging Het
Nfatc3 C T 8: 106,099,177 P620L probably damaging Het
Nol9 T C 4: 152,041,600 F253L probably damaging Het
Nutm2 T A 13: 50,474,860 S653R probably benign Het
Olfr138 A C 17: 38,274,899 I43L probably benign Het
Olfr1504 A T 19: 13,888,168 M14K probably benign Het
Plcg1 A G 2: 160,758,083 D921G probably benign Het
Psg17 A T 7: 18,820,166 L53Q probably damaging Het
Ptpn4 A T 1: 119,802,363 I20N possibly damaging Het
R3hdm1 A T 1: 128,236,438 I1030L probably damaging Het
Rpl7 A C 1: 16,102,583 S171A possibly damaging Het
Snx25 G A 8: 46,038,476 T859M probably damaging Het
Tmem94 A G 11: 115,795,328 M990V probably damaging Het
Tnnt2 A G 1: 135,846,764 probably benign Het
Ttn T C 2: 76,709,685 H34319R possibly damaging Het
Vmn1r72 A G 7: 11,670,497 V8A probably benign Het
Zbtb41 A G 1: 139,430,324 T457A probably benign Het
Other mutations in Plpp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00661:Plpp4 APN 7 129316299 missense probably damaging 1.00
R0016:Plpp4 UTSW 7 129323424 missense probably damaging 1.00
R0369:Plpp4 UTSW 7 129323466 missense probably damaging 1.00
R2149:Plpp4 UTSW 7 129379371 missense probably benign 0.08
R4290:Plpp4 UTSW 7 129307632 missense probably damaging 1.00
R4293:Plpp4 UTSW 7 129307632 missense probably damaging 1.00
R4295:Plpp4 UTSW 7 129307632 missense probably damaging 1.00
R4439:Plpp4 UTSW 7 129257089 start gained probably benign
R5185:Plpp4 UTSW 7 129316304 missense probably damaging 1.00
R6984:Plpp4 UTSW 7 129390892 missense possibly damaging 0.76
R7122:Plpp4 UTSW 7 129379483 missense unknown
R8048:Plpp4 UTSW 7 129379477 missense unknown
R8854:Plpp4 UTSW 7 129307638 nonsense probably null
R8926:Plpp4 UTSW 7 129321487 critical splice acceptor site probably null
R8994:Plpp4 UTSW 7 129379433 missense probably damaging 0.99
R9575:Plpp4 UTSW 7 129323487 missense probably benign 0.06
Z1177:Plpp4 UTSW 7 129379477 missense unknown
Posted On 2013-04-17