Incidental Mutation 'R1101:Plppr5'
ID 98070
Institutional Source Beutler Lab
Gene Symbol Plppr5
Ensembl Gene ENSMUSG00000033342
Gene Name phospholipid phosphatase related 5
Synonyms Lppr5, 4833424O15Rik
MMRRC Submission 039174-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R1101 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 117368274-117483157 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 117456172 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 231 (M231R)
Ref Sequence ENSEMBL: ENSMUSP00000102081 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039564] [ENSMUST00000106473]
AlphaFold Q8BJ52
Predicted Effect probably damaging
Transcript: ENSMUST00000039564
AA Change: M231R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000045121
Gene: ENSMUSG00000033342
AA Change: M231R

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 damaging
Transcript: ENSMUST00000106473
AA Change: M231R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102081
Gene: ENSMUSG00000033342
AA Change: M231R

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: 98.9%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 91.2%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T C 6: 146,853,909 (GRCm39) I249M possibly damaging Het
2610021A01Rik C A 7: 41,276,783 (GRCm39) H829N probably damaging Het
4930433I11Rik A T 7: 40,642,480 (GRCm39) T141S probably benign Het
Abi3bp G T 16: 56,426,521 (GRCm39) R512L probably damaging Het
Acot2 T G 12: 84,039,624 (GRCm39) S378A probably benign Het
Akap9 T C 5: 4,096,205 (GRCm39) I2360T probably benign Het
Bank1 T C 3: 135,989,625 (GRCm39) D155G probably benign Het
Bsn A G 9: 107,993,610 (GRCm39) V714A probably damaging Het
Cdh15 G A 8: 123,587,585 (GRCm39) V170I possibly damaging Het
Clcn2 G A 16: 20,522,345 (GRCm39) T787I probably damaging Het
Dapk1 A G 13: 60,864,599 (GRCm39) H131R probably damaging Het
Dct T G 14: 118,274,034 (GRCm39) D291A probably damaging Het
Dhx37 A G 5: 125,492,216 (GRCm39) Y1128H probably damaging Het
Dip2c A T 13: 9,684,780 (GRCm39) I1174F probably damaging Het
Eif3l A G 15: 78,959,467 (GRCm39) Y3C probably damaging Het
Enpp5 A G 17: 44,392,258 (GRCm39) N229S possibly damaging Het
Fam83b A T 9: 76,452,952 (GRCm39) H38Q possibly damaging Het
Fcamr T A 1: 130,742,223 (GRCm39) probably null Het
Hdac2 G A 10: 36,867,805 (GRCm39) V184I probably damaging Het
Igf2bp2 A T 16: 21,981,700 (GRCm39) L5Q probably damaging Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Ireb2 T A 9: 54,816,986 (GRCm39) H951Q probably benign Het
Lman1 T A 18: 66,120,969 (GRCm39) M418L probably benign Het
Lrrfip2 C T 9: 111,019,293 (GRCm39) R275W probably damaging Het
Mast3 T A 8: 71,239,307 (GRCm39) I424F probably damaging Het
Mep1a T C 17: 43,802,584 (GRCm39) D147G probably benign Het
Mtr C A 13: 12,204,411 (GRCm39) E1128D possibly damaging Het
Ogfod1 C A 8: 94,790,932 (GRCm39) S534R probably benign Het
Or4c107 A T 2: 88,789,328 (GRCm39) I173F possibly damaging Het
Or4k42 T C 2: 111,319,787 (GRCm39) T239A probably damaging Het
Or5k1 A G 16: 58,617,615 (GRCm39) V198A probably benign Het
Oxtr C T 6: 112,454,138 (GRCm39) R42Q probably benign Het
Pcdh18 T A 3: 49,707,828 (GRCm39) D882V probably damaging Het
Pik3cg C T 12: 32,245,645 (GRCm39) G868S probably null Het
Polr2a T C 11: 69,638,897 (GRCm39) T46A probably benign Het
Ppp4r3a C A 12: 101,017,830 (GRCm39) R440L probably damaging Het
Serpinb9e A T 13: 33,444,071 (GRCm39) T364S probably benign Het
Sirt3 A G 7: 140,449,541 (GRCm39) V135A possibly damaging Het
Supt16 T C 14: 52,408,896 (GRCm39) N826S probably null Het
Tbr1 T C 2: 61,635,083 (GRCm39) I11T probably benign Het
Trim72 A G 7: 127,609,419 (GRCm39) E407G possibly damaging Het
Vps72 C A 3: 95,026,487 (GRCm39) T144K probably damaging 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
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
R8927: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'- TGCACACATGGTTCTCAGTAAGAAATGG -3'
(R):5'- ACAAGCTGTCTCTTAAACCTGCACAT -3'

Sequencing Primer
(F):5'- cacacctttaatcccaacactc -3'
(R):5'- cacacacacacacacacac -3'
Posted On 2014-01-05