Incidental Mutation 'IGL02269:Plpp1'
ID 287066
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plpp1
Ensembl Gene ENSMUSG00000021759
Gene Name phospholipid phosphatase 1
Synonyms Hpic53, LPP-1, mPAP, Ppap2a, LPP1, Lipid phosphate phosphatase 1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02269
Quality Score
Status
Chromosome 13
Chromosomal Location 112937326-113004428 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 112993526 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 153 (C153S)
Ref Sequence ENSEMBL: ENSMUSP00000064423 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016144] [ENSMUST00000070951]
AlphaFold Q61469
Predicted Effect probably damaging
Transcript: ENSMUST00000016144
AA Change: C154S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000016144
Gene: ENSMUSG00000021759
AA Change: C154S

DomainStartEndE-ValueType
Blast:acidPPc 5 61 1e-14 BLAST
acidPPc 103 244 4.28e-45 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000070951
AA Change: C153S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064423
Gene: ENSMUSG00000021759
AA Change: C153S

DomainStartEndE-ValueType
Blast:acidPPc 5 72 5e-38 BLAST
acidPPc 102 243 4.28e-45 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a hypomorphic allele are viable and fertile with elevated plasma levels of lysophosphatidic acid. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933414I15Rik A G 11: 50,833,425 (GRCm39) V59A unknown Het
A2ml1 C A 6: 128,530,301 (GRCm39) probably benign Het
Akap13 G A 7: 75,252,659 (GRCm39) R263H probably benign Het
B3galt5 A G 16: 96,116,730 (GRCm39) D121G possibly damaging Het
Becn1 A G 11: 101,182,361 (GRCm39) probably benign Het
Carmil1 A T 13: 24,339,393 (GRCm39) L150* probably null Het
Cep170 A T 1: 176,596,932 (GRCm39) M475K probably benign Het
Cyp24a1 C T 2: 170,338,492 (GRCm39) G68D probably damaging Het
Cyp3a44 A T 5: 145,742,547 (GRCm39) I18N probably benign Het
Dmrt2 T C 19: 25,655,823 (GRCm39) V474A probably benign Het
Dtnb A G 12: 3,646,691 (GRCm39) D64G probably damaging Het
Epb41l3 T C 17: 69,554,568 (GRCm39) S223P probably damaging Het
Ephb2 A G 4: 136,498,360 (GRCm39) Y240H possibly damaging Het
Extl3 T C 14: 65,315,032 (GRCm39) Y50C probably damaging Het
Fat3 A C 9: 15,826,873 (GRCm39) S4360A possibly damaging Het
Fbxo9 A T 9: 77,994,835 (GRCm39) V230E probably damaging Het
Frmd4a T C 2: 4,609,045 (GRCm39) M971T probably benign Het
Gm7275 A G 16: 47,894,185 (GRCm39) noncoding transcript Het
Hyal6 C T 6: 24,740,858 (GRCm39) T337I probably damaging Het
Obsl1 C T 1: 75,464,357 (GRCm39) V1650M probably damaging Het
Or1j13 A T 2: 36,369,579 (GRCm39) S188T possibly damaging Het
Or52z14 T A 7: 103,253,089 (GRCm39) I76N probably damaging Het
Or7e169 A T 9: 19,757,024 (GRCm39) I297N possibly damaging Het
Or8c8 A T 9: 38,165,232 (GRCm39) D173V possibly damaging Het
Pcdh7 A C 5: 58,070,664 (GRCm39) E1114A probably damaging Het
Pde8a C T 7: 80,958,550 (GRCm39) probably benign Het
Pdzrn4 A T 15: 92,667,731 (GRCm39) S628C probably damaging Het
Pear1 C T 3: 87,663,571 (GRCm39) G376S probably damaging Het
Plekha6 C T 1: 133,215,587 (GRCm39) T644M possibly damaging Het
Ptpn3 G A 4: 57,197,510 (GRCm39) T793M possibly damaging Het
Rdh13 A T 7: 4,448,497 (GRCm39) L5Q possibly damaging Het
Rimbp2 G T 5: 128,851,359 (GRCm39) D862E probably damaging Het
Rita1 C T 5: 120,747,858 (GRCm39) A147T probably damaging Het
Scamp1 C T 13: 94,368,694 (GRCm39) probably benign Het
Scamp3 A G 3: 89,088,041 (GRCm39) T178A probably benign Het
Sh3tc1 A G 5: 35,863,628 (GRCm39) V853A probably benign Het
Snrnp200 C T 2: 127,071,911 (GRCm39) T1197M possibly damaging Het
Sult3a1 T C 10: 33,755,259 (GRCm39) F275L probably benign Het
Tenm4 A T 7: 96,473,029 (GRCm39) I905F probably damaging Het
Tgm3 T A 2: 129,866,438 (GRCm39) S119T probably benign Het
Tmem131l A T 3: 83,845,357 (GRCm39) D424E possibly damaging Het
Tmem45b G T 9: 31,339,279 (GRCm39) C145* probably null Het
Unc5c G A 3: 141,494,743 (GRCm39) R352H probably damaging Het
Vmn2r12 A G 5: 109,234,343 (GRCm39) L623P probably damaging Het
Vmn2r68 T C 7: 84,870,947 (GRCm39) M779V possibly damaging Het
Zfhx2 T C 14: 55,309,393 (GRCm39) N902S probably benign Het
Other mutations in Plpp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00780:Plpp1 APN 13 112,988,040 (GRCm39) missense probably damaging 1.00
IGL02139:Plpp1 APN 13 112,993,433 (GRCm39) missense probably benign 0.09
PIT4260001:Plpp1 UTSW 13 112,993,419 (GRCm39) missense probably damaging 1.00
R0550:Plpp1 UTSW 13 112,971,519 (GRCm39) missense probably benign 0.02
R1301:Plpp1 UTSW 13 112,971,477 (GRCm39) missense probably damaging 1.00
R1473:Plpp1 UTSW 13 112,996,198 (GRCm39) missense probably damaging 1.00
R5224:Plpp1 UTSW 13 112,988,046 (GRCm39) nonsense probably null
R5306:Plpp1 UTSW 13 112,988,089 (GRCm39) critical splice donor site probably null
R6108:Plpp1 UTSW 13 113,003,399 (GRCm39) missense possibly damaging 0.93
R6111:Plpp1 UTSW 13 113,003,451 (GRCm39) missense probably damaging 1.00
R6500:Plpp1 UTSW 13 113,003,454 (GRCm39) missense probably damaging 1.00
R7520:Plpp1 UTSW 13 112,937,781 (GRCm39) missense possibly damaging 0.89
R7716:Plpp1 UTSW 13 112,996,186 (GRCm39) missense probably damaging 1.00
R7716:Plpp1 UTSW 13 112,993,323 (GRCm39) missense probably benign 0.27
R8080:Plpp1 UTSW 13 113,004,002 (GRCm39) missense probably benign 0.19
R8209:Plpp1 UTSW 13 113,003,465 (GRCm39) missense probably benign 0.44
R8226:Plpp1 UTSW 13 113,003,465 (GRCm39) missense probably benign 0.44
R8514:Plpp1 UTSW 13 112,971,462 (GRCm39) missense probably damaging 1.00
R8924:Plpp1 UTSW 13 112,943,057 (GRCm39) intron probably benign
R8948:Plpp1 UTSW 13 112,993,511 (GRCm39) missense probably damaging 0.98
R9130:Plpp1 UTSW 13 112,988,038 (GRCm39) missense
Posted On 2015-04-16