Incidental Mutation 'IGL00846:Plpp5'
ID13106
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: 0.183) question?
Stock #IGL00846
Quality Score
Status
Chromosome8
Chromosomal Location25720037-25724887 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 25720558 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 59 (I59F)
Ref Sequence ENSEMBL: ENSMUSP00000147440 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033975] [ENSMUST00000068916] [ENSMUST00000084026] [ENSMUST00000124764] [ENSMUST00000133117] [ENSMUST00000138548] [ENSMUST00000139836] [ENSMUST00000142395] [ENSMUST00000145678] [ENSMUST00000210629]
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 possibly damaging
Transcript: ENSMUST00000068916
AA Change: I59F

PolyPhen 2 Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000067035
Gene: ENSMUSG00000031570
AA Change: I59F

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 silent
Transcript: ENSMUST00000124764
Predicted Effect probably damaging
Transcript: ENSMUST00000133117
AA Change: I59F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect unknown
Transcript: ENSMUST00000138548
AA Change: H11L
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138879
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139120
Predicted Effect possibly damaging
Transcript: ENSMUST00000139836
AA Change: I59F

PolyPhen 2 Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000122437
Gene: ENSMUSG00000031570
AA Change: I59F

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 silent
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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atxn2l T C 7: 126,499,178 T181A probably damaging Het
Caskin1 T C 17: 24,499,349 probably null Het
Cass4 A C 2: 172,429,723 probably benign Het
Cdh26 A T 2: 178,481,624 Y672F possibly damaging Het
Cep290 T A 10: 100,540,333 probably benign Het
Cntnap2 T C 6: 47,193,038 L1146P probably benign Het
Cntnap5b T G 1: 100,164,223 C230G probably damaging Het
Ctnnd1 C T 2: 84,622,010 probably null Het
Cux1 A G 5: 136,326,796 I324T probably damaging Het
Dnajb4 T C 3: 152,193,481 N36S probably damaging Het
Fancc T A 13: 63,340,456 T237S possibly damaging Het
Fip1l1 A G 5: 74,587,065 probably benign Het
Hemgn G T 4: 46,396,171 T355K possibly damaging Het
Hivep1 T A 13: 42,167,616 L42* probably null Het
Hps3 A G 3: 20,025,792 W234R probably benign Het
Kit A T 5: 75,640,811 N586I probably damaging Het
Mettl14 T A 3: 123,371,363 K109N probably damaging Het
Mmab A T 5: 114,433,317 M166K probably benign Het
Naprt T A 15: 75,891,788 Y395F probably benign Het
Nostrin C T 2: 69,185,555 probably benign Het
Pgap1 G T 1: 54,492,021 probably benign Het
Prrc2b T C 2: 32,199,097 probably benign Het
Scn4a A T 11: 106,328,118 V958D probably benign Het
Serpinb3b T A 1: 107,155,849 N200I probably damaging Het
Slc22a15 T A 3: 101,860,820 Q512L probably benign Het
Tmf1 A T 6: 97,173,316 Y477N possibly damaging Het
Trim10 T A 17: 36,871,692 L150H probably damaging Het
Ttc41 A G 10: 86,736,933 E723G possibly damaging Het
Usp25 A G 16: 77,062,405 S264G probably damaging Het
Vopp1 A G 6: 57,754,480 probably benign Het
Wapl G T 14: 34,692,744 probably benign Het
Wbp1 A G 6: 83,120,041 F93S probably damaging Het
Wt1 G T 2: 105,166,957 R413L probably damaging Het
Zfp345 C T 2: 150,472,618 G333D possibly damaging Het
Zmynd11 C A 13: 9,720,772 probably null Het
Other mutations in Plpp5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01588:Plpp5 APN 8 25724168 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
Posted On2012-12-06