Incidental Mutation 'R8927:Plppr5'
ID 679587
Institutional Source Beutler Lab
Gene Symbol Plppr5
Ensembl Gene ENSMUSG00000033342
Gene Name phospholipid phosphatase related 5
Synonyms Lppr5, 4833424O15Rik
MMRRC Submission 068771-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R8927 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 117368274-117483157 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 117369532 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 63 (V63A)
Ref Sequence ENSEMBL: ENSMUSP00000102081 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039564] [ENSMUST00000106473]
AlphaFold Q8BJ52
Predicted Effect possibly damaging
Transcript: ENSMUST00000039564
AA Change: V63A

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000045121
Gene: ENSMUSG00000033342
AA Change: V63A

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
transmembrane domain 66 88 N/A INTRINSIC
acidPPc 123 267 8.27e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106473
AA Change: V63A

PolyPhen 2 Score 0.412 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000102081
Gene: ENSMUSG00000033342
AA Change: V63A

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
transmembrane domain 66 88 N/A INTRINSIC
acidPPc 123 267 8.27e-20 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a type 2 member of the phosphatidic acid phosphatase (PAP) family. All type 2 members of this protein family contain 6 transmembrane regions, and a consensus N-glycosylation site. PAPs convert phosphatidic acid to diacylglycerol, and function in de novo synthesis of glycerolipids as well as in receptor-activated signal transduction mediated by phospholipase D. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik G A 9: 57,165,805 (GRCm39) R190* probably null Het
Aldh7a1 A T 18: 56,660,060 (GRCm39) S529T probably benign Het
Carmil2 T G 8: 106,415,130 (GRCm39) Y214* probably null Het
Ccdc136 A G 6: 29,406,109 (GRCm39) I152V probably damaging Het
Ccdc88c T C 12: 100,932,676 (GRCm39) D285G possibly damaging Het
Clec4a3 T A 6: 122,946,328 (GRCm39) F191I probably damaging Het
Dennd6b AGCTGGGGTCCCGC AGC 15: 89,069,780 (GRCm39) probably null Het
Dlg5 A T 14: 24,206,547 (GRCm39) S1222T Het
Dnaaf9 T A 2: 130,579,300 (GRCm39) R777* probably null Het
Dnah14 T G 1: 181,508,321 (GRCm39) L1833W probably damaging Het
Dsg2 T C 18: 20,725,535 (GRCm39) W549R probably damaging Het
Ezh2 A T 6: 47,510,713 (GRCm39) V632E possibly damaging Het
Fam83a G A 15: 57,873,313 (GRCm39) V381M probably benign Het
Fmo2 T C 1: 162,704,398 (GRCm39) T503A probably benign Het
Foxo1 T C 3: 52,252,703 (GRCm39) F289L probably damaging Het
Gckr A G 5: 31,456,903 (GRCm39) E96G probably damaging Het
Gm18596 G A 10: 77,578,162 (GRCm39) A104V unknown Het
Gm21680 A T 5: 26,176,347 (GRCm39) N83K probably damaging Het
Gnb5 T C 9: 75,252,236 (GRCm39) V393A possibly damaging Het
Grin2b T G 6: 135,749,339 (GRCm39) Q621P probably damaging Het
Gtsf2 T C 15: 103,352,783 (GRCm39) I79V probably benign Het
Itga1 T C 13: 115,105,055 (GRCm39) I1040V probably benign Het
Kif2b C T 11: 91,468,023 (GRCm39) E87K probably benign Het
Klk1b8 G A 7: 43,604,206 (GRCm39) G225S probably damaging Het
L3mbtl3 A T 10: 26,220,084 (GRCm39) C94S unknown Het
Man2c1 T G 9: 57,048,456 (GRCm39) Y872* probably null Het
Mical3 T A 6: 120,984,325 (GRCm39) M832L probably benign Het
Mrc2 A G 11: 105,216,334 (GRCm39) D41G probably benign Het
Nedd1 T A 10: 92,558,258 (GRCm39) probably benign Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Notch3 C T 17: 32,372,792 (GRCm39) R593Q probably benign Het
Nxpe3 T G 16: 55,669,997 (GRCm39) E369D possibly damaging Het
Obscn T A 11: 58,977,695 (GRCm39) T1802S possibly damaging Het
Or1e33 A T 11: 73,738,406 (GRCm39) F182I probably benign Het
Or2a7 T C 6: 43,151,669 (GRCm39) F250L probably benign Het
Or4k51 A T 2: 111,585,107 (GRCm39) H171L probably benign Het
Or9s14 A G 1: 92,536,438 (GRCm39) N293S probably damaging Het
Oscar A C 7: 3,614,747 (GRCm39) V75G probably benign Het
Pcdhb17 G A 18: 37,620,372 (GRCm39) A721T probably benign Het
Pcnx2 T C 8: 126,614,659 (GRCm39) Y264C probably benign Het
Pear1 G T 3: 87,661,890 (GRCm39) A495D probably damaging Het
Plekhf1 C A 7: 37,920,998 (GRCm39) R190L probably damaging Het
Pyroxd1 T A 6: 142,300,437 (GRCm39) F189Y probably damaging Het
Rab13 C T 3: 90,128,120 (GRCm39) probably benign Het
Rptor C T 11: 119,782,036 (GRCm39) T1121I probably benign Het
Scgb2b7 T C 7: 31,404,602 (GRCm39) S33G probably benign Het
Slc25a36 A G 9: 96,982,126 (GRCm39) probably null Het
Smtn T A 11: 3,479,477 (GRCm39) H530L possibly damaging Het
Srrt C T 5: 137,297,070 (GRCm39) C411Y probably benign Het
Stag1 C A 9: 100,587,298 (GRCm39) P7Q possibly damaging Het
Tarm1 G A 7: 3,537,719 (GRCm39) T248I possibly damaging Het
Tektl1 T C 10: 78,588,258 (GRCm39) Y184C probably damaging Het
Trim6 C T 7: 103,881,655 (GRCm39) A328V probably benign Het
Vmn1r189 T C 13: 22,286,811 (GRCm39) I9V probably benign Het
Vmn2r93 A G 17: 18,546,500 (GRCm39) T791A probably damaging Het
Vsig10l A G 7: 43,116,020 (GRCm39) T454A probably benign Het
Other mutations in Plppr5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00391:Plppr5 APN 3 117,465,592 (GRCm39) missense possibly damaging 0.46
IGL01081:Plppr5 APN 3 117,480,298 (GRCm39) utr 3 prime probably benign
IGL01315:Plppr5 APN 3 117,456,175 (GRCm39) missense probably damaging 1.00
IGL02802:Plppr5 UTSW 3 117,456,228 (GRCm39) missense probably damaging 1.00
R0044:Plppr5 UTSW 3 117,465,538 (GRCm39) splice site probably null
R0044:Plppr5 UTSW 3 117,465,538 (GRCm39) splice site probably null
R0332:Plppr5 UTSW 3 117,465,581 (GRCm39) missense probably benign 0.05
R0757:Plppr5 UTSW 3 117,369,540 (GRCm39) missense probably benign 0.16
R1101:Plppr5 UTSW 3 117,456,172 (GRCm39) missense probably damaging 0.99
R1354:Plppr5 UTSW 3 117,369,496 (GRCm39) missense possibly damaging 0.94
R1498:Plppr5 UTSW 3 117,456,261 (GRCm39) missense probably damaging 0.97
R1967:Plppr5 UTSW 3 117,419,555 (GRCm39) critical splice donor site probably null
R2090:Plppr5 UTSW 3 117,369,520 (GRCm39) missense possibly damaging 0.63
R4661:Plppr5 UTSW 3 117,414,618 (GRCm39) missense probably damaging 1.00
R5143:Plppr5 UTSW 3 117,419,552 (GRCm39) missense probably benign
R5441:Plppr5 UTSW 3 117,456,120 (GRCm39) missense possibly damaging 0.94
R5722:Plppr5 UTSW 3 117,414,714 (GRCm39) missense probably benign 0.00
R6560:Plppr5 UTSW 3 117,465,639 (GRCm39) missense probably benign 0.09
R7221:Plppr5 UTSW 3 117,414,618 (GRCm39) missense probably damaging 1.00
R8556:Plppr5 UTSW 3 117,465,679 (GRCm39) missense probably benign
R8925:Plppr5 UTSW 3 117,369,532 (GRCm39) missense probably benign 0.41
R9015:Plppr5 UTSW 3 117,456,103 (GRCm39) missense probably damaging 1.00
Z1177:Plppr5 UTSW 3 117,419,428 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGCTCCAGCTATACAACATCCG -3'
(R):5'- GAAGAGGACTGCCACCAAGT -3'

Sequencing Primer
(F):5'- GAAGCCCAGTCGCATCCTC -3'
(R):5'- GGACTGCCACCAAGTTAGAG -3'
Posted On 2021-08-02