Incidental Mutation 'IGL01588:Plpp5'
ID91505
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: 0.164) question?
Stock #IGL01588
Quality Score
Status
Chromosome8
Chromosomal Location25720037-25724887 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 25724168 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 237 (H237Q)
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 damaging
Transcript: ENSMUST00000068916
AA Change: H237Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000067035
Gene: ENSMUSG00000031570
AA Change: H237Q

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 probably benign
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aspm T A 1: 139,478,162 S1596T probably benign Het
Atp10b G A 11: 43,172,721 R161H probably benign Het
Csn2 T C 5: 87,694,649 H165R probably benign Het
Dido1 A G 2: 180,688,875 V260A probably benign Het
Ece1 C T 4: 137,957,206 probably benign Het
Garem1 T G 18: 21,129,797 R653S probably damaging Het
Gpatch2 A T 1: 187,230,794 S261C probably damaging Het
Ing4 A G 6: 125,043,986 N24D possibly damaging Het
Klhdc7a A T 4: 139,966,946 V230D probably damaging Het
Ly96 G A 1: 16,709,454 V116I probably benign Het
Myom1 C T 17: 71,117,437 T1427M possibly damaging Het
Nedd1 C A 10: 92,686,262 V638L probably benign Het
Olfr1161 T C 2: 88,025,073 V117A probably benign Het
Olfr653 C T 7: 104,579,943 S99F probably damaging Het
Olfr948 G A 9: 39,318,832 Q261* probably null Het
Pbx2 T C 17: 34,595,618 probably benign Het
Phlpp1 A T 1: 106,380,389 H1132L probably damaging Het
Stard13 C T 5: 151,045,237 R856H probably damaging Het
Sult1e1 T C 5: 87,576,243 K285R probably benign Het
Ubxn8 C T 8: 33,621,559 V269M probably damaging Het
Usp29 A T 7: 6,962,611 K484N probably benign Het
Whrn C T 4: 63,472,778 V80M probably damaging Het
Znhit6 A G 3: 145,596,207 probably benign Het
Other mutations in Plpp5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00846:Plpp5 APN 8 25720558 missense probably damaging 0.99
IGL02539:Plpp5 APN 8 25724188 missense probably benign
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 On2013-12-09