Incidental Mutation 'IGL02539:Plpp5'
ID297645
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plpp5
Ensembl Gene ENSMUSG00000031570
Gene Namephospholipid phosphatase 5
SynonymsPpapdc1b, 1810019D05Rik, 2310022A04Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.132) question?
Stock #IGL02539
Quality Score
Status
Chromosome8
Chromosomal Location25720037-25724887 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 25724188 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 244 (H244R)
Ref Sequence ENSEMBL: ENSMUSP00000067035 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033975] [ENSMUST00000068916] [ENSMUST00000084026] [ENSMUST00000124764] [ENSMUST00000133117] [ENSMUST00000138548] [ENSMUST00000139836] [ENSMUST00000142395] [ENSMUST00000145678] [ENSMUST00000210629] [ENSMUST00000211688]
Predicted Effect probably benign
Transcript: ENSMUST00000033975
SMART Domains Protein: ENSMUSP00000033975
Gene: ENSMUSG00000061313

DomainStartEndE-ValueType
low complexity region 12 25 N/A INTRINSIC
Pfam:WWE 40 112 7.5e-9 PFAM
Blast:DDHD 285 357 6e-28 BLAST
SAM 382 447 1.13e-11 SMART
DDHD 484 688 6.63e-75 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000068916
AA Change: H244R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000067035
Gene: ENSMUSG00000031570
AA Change: H244R

DomainStartEndE-ValueType
acidPPc 85 224 3.08e-28 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000084026
SMART Domains Protein: ENSMUSP00000081040
Gene: ENSMUSG00000054823

DomainStartEndE-ValueType
low complexity region 128 151 N/A INTRINSIC
low complexity region 193 225 N/A INTRINSIC
PWWP 278 341 1.6e-12 SMART
low complexity region 680 701 N/A INTRINSIC
PHD 713 756 4.49e-7 SMART
PHD 761 808 5.82e-1 SMART
PHD 809 861 3.06e0 SMART
PHD 874 963 1e-4 SMART
PWWP 968 1030 8.62e-18 SMART
AWS 1103 1154 2.61e-17 SMART
SET 1155 1278 2.17e-41 SMART
PostSET 1279 1295 2.63e-3 SMART
low complexity region 1309 1326 N/A INTRINSIC
PHD 1332 1375 4.32e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124764
Predicted Effect probably benign
Transcript: ENSMUST00000133117
Predicted Effect probably benign
Transcript: ENSMUST00000138548
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138879
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139120
Predicted Effect probably benign
Transcript: ENSMUST00000139836
SMART Domains Protein: ENSMUSP00000122437
Gene: ENSMUSG00000031570

DomainStartEndE-ValueType
acidPPc 85 214 3.98e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000142395
SMART Domains Protein: ENSMUSP00000117778
Gene: ENSMUSG00000054823

DomainStartEndE-ValueType
low complexity region 128 151 N/A INTRINSIC
low complexity region 193 225 N/A INTRINSIC
PWWP 278 341 1.6e-12 SMART
low complexity region 680 701 N/A INTRINSIC
PHD 713 756 4.49e-7 SMART
PHD 761 808 5.82e-1 SMART
PHD 809 861 3.06e0 SMART
PHD 874 963 1e-4 SMART
PWWP 968 1030 8.62e-18 SMART
AWS 1103 1154 2.61e-17 SMART
SET 1155 1278 2.17e-41 SMART
PostSET 1279 1295 2.63e-3 SMART
low complexity region 1309 1326 N/A INTRINSIC
PHD 1332 1375 4.32e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000145678
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146762
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209373
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209375
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209483
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209843
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210624
Predicted Effect silent
Transcript: ENSMUST00000210629
Predicted Effect probably benign
Transcript: ENSMUST00000210777
Predicted Effect probably benign
Transcript: ENSMUST00000211688
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 A T 8: 24,786,213 Y479* probably null Het
Btnl6 T C 17: 34,508,314 N414S probably benign Het
Ccdc180 A G 4: 45,921,005 N984D probably damaging Het
Cfc1 A T 1: 34,537,122 probably benign Het
Chrm1 G A 19: 8,678,311 V127M probably damaging Het
Dicer1 A G 12: 104,697,035 L1429P probably damaging Het
Erbb3 A G 10: 128,584,305 probably null Het
Evi5 T C 5: 107,815,665 E348G probably benign Het
Fat2 G A 11: 55,281,793 T2698I probably damaging Het
Gas2 A G 7: 51,897,290 D63G possibly damaging Het
Gm28042 A G 2: 120,035,221 D313G probably damaging Het
Hivep2 T A 10: 14,131,878 S1407T probably damaging Het
Ibsp T A 5: 104,302,283 M19K probably damaging Het
Itih3 C T 14: 30,912,664 D129N probably benign Het
Krtap4-8 A T 11: 99,780,370 probably benign Het
Mertk A G 2: 128,801,290 T870A probably damaging Het
Mtmr11 C A 3: 96,164,991 probably benign Het
Nbas C A 12: 13,272,703 probably benign Het
Nlrp4b A G 7: 10,714,428 D186G probably damaging Het
Olfm3 A G 3: 115,101,930 I154V possibly damaging Het
Olfr713 T A 7: 107,036,434 I93N probably damaging Het
Pdk2 T C 11: 95,032,495 K101R probably benign Het
Pds5a C T 5: 65,666,119 D110N probably damaging Het
Pex5 A T 6: 124,403,224 D288E probably benign Het
Pitrm1 A G 13: 6,568,756 D655G probably benign Het
Plcz1 T C 6: 139,992,964 N554S probably benign Het
Plin4 T C 17: 56,106,680 Q315R probably damaging Het
Ppp1r3a C T 6: 14,718,459 V819I probably benign Het
Rap1b T A 10: 117,822,804 R41S possibly damaging Het
Rc3h2 T A 2: 37,389,715 S501C probably benign Het
Sel1l2 G T 2: 140,230,858 A619D probably damaging Het
Ska3 T C 14: 57,820,511 D128G possibly damaging Het
Specc1l A T 10: 75,267,508 I889L probably benign Het
Ssxb5 T A X: 8,808,848 N130K probably damaging Het
Tanc1 G T 2: 59,833,258 G1120C probably damaging Het
Tet1 T C 10: 62,813,019 Q267R possibly damaging Het
Tlr8 T A X: 167,244,156 H566L possibly damaging Het
Tmem132d T A 5: 127,783,979 Q1026L probably benign Het
Tmem214 G A 5: 30,872,746 A296T probably benign Het
Trp53bp2 C A 1: 182,448,691 P746T probably damaging Het
Uso1 A T 5: 92,187,773 I547F probably damaging Het
Zfp687 A C 3: 95,011,062 N466K probably damaging Het
Other mutations in Plpp5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00846:Plpp5 APN 8 25720558 missense probably damaging 0.99
IGL01588:Plpp5 APN 8 25724168 missense probably damaging 0.99
IGL02807:Plpp5 APN 8 25721165 splice site probably benign
R0362:Plpp5 UTSW 8 25724192 missense probably benign 0.00
R1626:Plpp5 UTSW 8 25722577 missense possibly damaging 0.73
R4009:Plpp5 UTSW 8 25720311 missense probably damaging 1.00
R4030:Plpp5 UTSW 8 25720604 missense probably damaging 0.98
R7178:Plpp5 UTSW 8 25720579 missense probably benign 0.32
R7529:Plpp5 UTSW 8 25724206 missense probably benign 0.00
Posted On2015-04-16