Incidental Mutation 'R4875:Plpp2'
ID 376736
Institutional Source Beutler Lab
Gene Symbol Plpp2
Ensembl Gene ENSMUSG00000052151
Gene Name phospholipid phosphatase 2
Synonyms Lpp2, Ppap2c
MMRRC Submission 044392-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4875 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 79362258-79369621 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 79366763 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 51 (T51M)
Ref Sequence ENSEMBL: ENSMUSP00000069670 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063879] [ENSMUST00000165233] [ENSMUST00000166804] [ENSMUST00000218241]
AlphaFold Q9DAX2
Predicted Effect probably damaging
Transcript: ENSMUST00000063879
AA Change: T51M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000069670
Gene: ENSMUSG00000052151
AA Change: T51M

DomainStartEndE-ValueType
low complexity region 6 20 N/A INTRINSIC
Blast:acidPPc 21 70 6e-9 BLAST
acidPPc 99 239 1.42e-41 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163602
Predicted Effect probably benign
Transcript: ENSMUST00000165233
SMART Domains Protein: ENSMUSP00000127000
Gene: ENSMUSG00000052151

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000166804
SMART Domains Protein: ENSMUSP00000133247
Gene: ENSMUSG00000052151

DomainStartEndE-ValueType
transmembrane domain 4 23 N/A INTRINSIC
acidPPc 43 183 1.42e-41 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184212
Predicted Effect probably benign
Transcript: ENSMUST00000218241
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 95% (57/60)
MGI Phenotype FUNCTION: The protein encoded by this gene is a lipid phosphate phosphohydrolase. It is an integral membrane protein that catalyzes the conversion of phosphatidic acid to diacylglycerol and inorganic phosphate. The transcript is expressed at high levels in lung, liver, and kidney and at low levels in brain and heart. Null mutant mice are viable and fertile and display no overt phenotypic defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ak1 A T 2: 32,521,189 (GRCm39) E119D probably benign Het
Alox5 A T 6: 116,390,811 (GRCm39) probably null Het
Atad5 T C 11: 80,011,515 (GRCm39) V1294A probably damaging Het
BB019430 A G 10: 58,539,865 (GRCm39) noncoding transcript Het
Bbs9 T C 9: 22,490,011 (GRCm39) F261L probably benign Het
Catsperb A T 12: 101,554,244 (GRCm39) N646I possibly damaging Het
Ccdc112 A G 18: 46,429,356 (GRCm39) I114T probably damaging Het
Cecr2 T C 6: 120,727,877 (GRCm39) L340P probably damaging Het
Ces2e T A 8: 105,653,817 (GRCm39) V85E probably damaging Het
Cnpy2 C A 10: 128,161,964 (GRCm39) T79K probably damaging Het
Cntn4 G A 6: 106,414,874 (GRCm39) R135H possibly damaging Het
Cpne8 T A 15: 90,532,771 (GRCm39) probably benign Het
Ctso C T 3: 81,849,688 (GRCm39) probably benign Het
Cyp3a16 C A 5: 145,389,659 (GRCm39) M235I probably benign Het
Dll3 A G 7: 27,995,860 (GRCm39) C314R probably damaging Het
Dnah7c A G 1: 46,728,085 (GRCm39) N2928D probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dqx1 C A 6: 83,037,993 (GRCm39) D460E probably benign Het
Dync1h1 C A 12: 110,624,560 (GRCm39) T3700N probably damaging Het
Ehbp1 A G 11: 22,051,164 (GRCm39) C438R probably damaging Het
Ehd3 T G 17: 74,112,299 (GRCm39) V21G probably damaging Het
Ero1b G A 13: 12,619,325 (GRCm39) V440I probably damaging Het
Fpgt G A 3: 154,793,550 (GRCm39) A159V probably damaging Het
Gcn1 T C 5: 115,714,229 (GRCm39) L123P possibly damaging Het
Gm14496 A T 2: 181,639,226 (GRCm39) R439W probably damaging Het
Gm4353 G C 7: 115,683,648 (GRCm39) P49R probably damaging Het
Gsdmc2 C T 15: 63,700,101 (GRCm39) A224T probably benign Het
Helz T A 11: 107,528,560 (GRCm39) probably benign Het
Hnf1a T C 5: 115,108,732 (GRCm39) T58A probably benign Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Kcns1 T C 2: 164,010,021 (GRCm39) Y246C probably damaging Het
Kif26b A G 1: 178,742,892 (GRCm39) E549G probably benign Het
Krt9 T C 11: 100,080,863 (GRCm39) I330V probably benign Het
Lair1 A T 7: 4,032,033 (GRCm39) S25T probably benign Het
Lhx4 T C 1: 155,581,013 (GRCm39) T171A possibly damaging Het
Luzp2 A G 7: 54,816,996 (GRCm39) I149V possibly damaging Het
Mcoln1 T A 8: 3,557,422 (GRCm39) S143T probably benign Het
Mcph1 A G 8: 18,675,574 (GRCm39) probably null Het
Mgat5 G A 1: 127,396,986 (GRCm39) V578M probably damaging Het
Mis18bp1 G A 12: 65,208,209 (GRCm39) T168M probably benign Het
Mospd4 G T 18: 46,598,804 (GRCm39) noncoding transcript Het
Mroh2a G T 1: 88,182,657 (GRCm39) R1195L possibly damaging Het
Myom1 T C 17: 71,379,114 (GRCm39) V626A probably damaging Het
Naa80 C T 9: 107,460,818 (GRCm39) R238C probably damaging Het
Ncam1 T C 9: 49,418,921 (GRCm39) probably benign Het
Ncor1 AGCTGCTGCTGCTGCTGCTGCTGCTG AGCTGCTGCTGCTGCTGCTGCTG 11: 62,324,437 (GRCm39) probably benign Het
Ndufv1 T C 19: 4,062,653 (GRCm39) probably null Het
Nlrp2 A T 7: 5,301,858 (GRCm39) F211L probably benign Het
Or10a49 A T 7: 108,467,993 (GRCm39) F123I probably damaging Het
Or10q12 T A 19: 13,746,126 (GRCm39) M140K probably damaging Het
Or2ad1 T A 13: 21,326,450 (GRCm39) Y259F probably damaging Het
Osbpl11 G A 16: 33,054,863 (GRCm39) V649I probably benign Het
Pax8 T A 2: 24,331,652 (GRCm39) M144L probably benign Het
Pcnt T C 10: 76,205,688 (GRCm39) T2555A probably benign Het
Plat T A 8: 23,258,466 (GRCm39) I23K probably benign Het
Pnkp C T 7: 44,511,827 (GRCm39) S113L probably damaging Het
Prl7c1 T C 13: 27,957,742 (GRCm39) M233V probably benign Het
Prox1 A C 1: 189,894,319 (GRCm39) F42C probably damaging Het
Pwwp2b A T 7: 138,835,978 (GRCm39) Q473L possibly damaging Het
Rims4 A T 2: 163,707,443 (GRCm39) N127K probably null Het
Scn1a T C 2: 66,158,820 (GRCm39) T367A possibly damaging Het
Slc23a2 A G 2: 131,898,800 (GRCm39) I579T possibly damaging Het
Sp9 T C 2: 73,103,962 (GRCm39) V172A possibly damaging Het
Spta1 T A 1: 174,003,396 (GRCm39) L109Q probably damaging Het
Strap ACCTGCCCTCCT ACCT 6: 137,726,316 (GRCm39) probably benign Het
Synj2 A T 17: 6,038,343 (GRCm39) probably benign Het
Tcstv2c T C 13: 120,616,206 (GRCm39) V15A probably damaging Het
Tgif2-ps2 A G 17: 40,426,274 (GRCm39) noncoding transcript Het
Tnrc18 A T 5: 142,750,932 (GRCm39) M1216K unknown Het
Tpst2 T A 5: 112,457,687 (GRCm39) Y69* probably null Het
Tpx2 C A 2: 152,735,535 (GRCm39) A721E probably benign Het
Trmt1l A G 1: 151,330,755 (GRCm39) T591A probably benign Het
Tuba8 T A 6: 121,203,042 (GRCm39) probably benign Het
Ubiad1 T C 4: 148,528,556 (GRCm39) T118A possibly damaging Het
Unc13c T C 9: 73,424,566 (GRCm39) T2017A probably damaging Het
Vmn1r59 G T 7: 5,457,108 (GRCm39) N217K probably benign Het
Vmn2r87 T C 10: 130,308,367 (GRCm39) I624V probably damaging Het
Wdr4 A G 17: 31,718,129 (GRCm39) V315A probably benign Het
Xpo7 T C 14: 70,914,256 (GRCm39) probably null Het
Zfp827 T A 8: 79,787,403 (GRCm39) W190R probably damaging Het
Zfp971 A G 2: 177,674,940 (GRCm39) T180A probably benign Het
Other mutations in Plpp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01321:Plpp2 APN 10 79,363,327 (GRCm39) missense probably damaging 1.00
IGL03327:Plpp2 APN 10 79,366,818 (GRCm39) splice site probably null
Trust UTSW 10 79,366,763 (GRCm39) missense probably damaging 1.00
R0009:Plpp2 UTSW 10 79,363,078 (GRCm39) missense probably benign 0.01
R0056:Plpp2 UTSW 10 79,363,063 (GRCm39) missense probably damaging 0.99
R0097:Plpp2 UTSW 10 79,366,371 (GRCm39) missense possibly damaging 0.50
R0311:Plpp2 UTSW 10 79,363,414 (GRCm39) missense probably damaging 0.97
R0840:Plpp2 UTSW 10 79,363,378 (GRCm39) missense probably benign 0.16
R1406:Plpp2 UTSW 10 79,366,611 (GRCm39) splice site probably benign
R1642:Plpp2 UTSW 10 79,366,518 (GRCm39) missense probably damaging 1.00
R3436:Plpp2 UTSW 10 79,363,647 (GRCm39) critical splice donor site probably null
R3437:Plpp2 UTSW 10 79,363,647 (GRCm39) critical splice donor site probably null
R4400:Plpp2 UTSW 10 79,363,327 (GRCm39) missense possibly damaging 0.88
R4521:Plpp2 UTSW 10 79,366,459 (GRCm39) missense probably damaging 1.00
R4873:Plpp2 UTSW 10 79,366,763 (GRCm39) missense probably damaging 1.00
R5114:Plpp2 UTSW 10 79,362,973 (GRCm39) missense probably benign 0.41
R6970:Plpp2 UTSW 10 79,366,380 (GRCm39) missense possibly damaging 0.90
R7383:Plpp2 UTSW 10 79,366,841 (GRCm39) missense probably null 0.99
R7902:Plpp2 UTSW 10 79,363,378 (GRCm39) missense possibly damaging 0.91
R7953:Plpp2 UTSW 10 79,366,374 (GRCm39) missense possibly damaging 0.89
R8237:Plpp2 UTSW 10 79,363,294 (GRCm39) missense possibly damaging 0.94
R9218:Plpp2 UTSW 10 79,366,501 (GRCm39) missense probably damaging 1.00
R9452:Plpp2 UTSW 10 79,363,702 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACGGTCTGTGTACACCAGGTAG -3'
(R):5'- AGTTTCCAGTGAGGGCATGC -3'

Sequencing Primer
(F):5'- AGGTAGGCTTCTCCCAATGAG -3'
(R):5'- CACAGTGGCCATGATAGATGTGC -3'
Genotyping

Genotyping is performed by amplifying the region containing the mutation using PCR, followed by sequencing of the amplified region to detect the mutation.
 

PCR Primers

R48750037_PCR_F: 5’- ACGGTCTGTGTACACCAGGTAG-3’

R48750037_PCR_R: 5’- AGTTTCCAGTGAGGGCATGC-3’

Sequencing Primers

R48750037_SEQ_F: 5’- AGGTAGGCTTCTCCCAATGAG-3’
 

R48750037_SEQ_R: 5’- CACAGTGGCCATGATAGATGTGC-3’
 

PCR program

1) 94°C             2:00

2) 94°C             0:30

3) 55°C             0:30

4) 72°C             1:00

5) repeat steps (2-4) 40X

6) 72°C             10:00

7) 4°C               hold

The following sequence of 400 nucleotides is amplified:

acggtctgtg tacaccaggt aggcttctcc caatgagacc tgcggatgga acagccacag       

agcaccaggc agacacagct cccaccatgc ccatcctgcg ggcgggctgg accatccccc      

acccaagccc ttttctgtct tacaaggatg acagtagctg tgatgatgac cccagccatg      

agtccgtggg tgatcgtgtc tggacggtat gggtaccgga tggagtcatc tccacagtag      

aacccccgct tatatggtgc attcaccagg gtcaggatga tgaaaggcag agaggctgtg      

ggaggccggg gaaggcacat ggttctccgc agtgcccatt ccagcccccc tgttatctgc      

acatctatca tggccactgt gcatgccctc actggaaact

Primer binding sites are underlined and the sequencing primer is highlighted; the mutated nucleotide is shown in red text (Chr. (+) = G>A).
Posted On 2016-03-17