Incidental Mutation 'R3887:Pla2g15'
ID 309702
Institutional Source Beutler Lab
Gene Symbol Pla2g15
Ensembl Gene ENSMUSG00000031903
Gene Name phospholipase A2, group XV
Synonyms Lpla2, C87498, Lypla3, LLPL
MMRRC Submission 040799-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.197) question?
Stock # R3887 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 106877031-106891347 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106887767 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 185 (Y185C)
Ref Sequence ENSEMBL: ENSMUSP00000034377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034377] [ENSMUST00000212963]
AlphaFold Q8VEB4
Predicted Effect probably damaging
Transcript: ENSMUST00000034377
AA Change: Y185C

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000034377
Gene: ENSMUSG00000031903
AA Change: Y185C

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
Pfam:LCAT 72 399 6.2e-84 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212059
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212116
Predicted Effect probably benign
Transcript: ENSMUST00000212963
Meta Mutation Damage Score 0.2442 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (40/40)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. The protein encoded by this gene hydrolyzes lysophosphatidylcholine to glycerophosphorylcholine and a free fatty acid. This enzyme is present in the plasma and thought to be associated with high-density lipoprotein. A later paper contradicts the function of this gene. It demonstrates that this gene encodes a lysosomal enzyme instead of a lysophospholipase and has both calcium-independent phospholipase A2 and transacylase activities. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice do not develop atherosclerotic lesions even when fed an atherogenic diet. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933407L21Rik T A 1: 85,868,273 (GRCm39) probably null Het
Ankdd1a C A 9: 65,409,530 (GRCm39) G469W probably damaging Het
Ano6 A C 15: 95,792,330 (GRCm39) T65P possibly damaging Het
Arhgap26 G A 18: 39,363,019 (GRCm39) probably null Het
Ccdc175 A G 12: 72,182,822 (GRCm39) I399T possibly damaging Het
Ceacam14 T A 7: 17,548,063 (GRCm39) V51D probably damaging Het
Cerk A T 15: 86,033,532 (GRCm39) I297N possibly damaging Het
Cps1 C A 1: 67,204,659 (GRCm39) T493K possibly damaging Het
Dmxl1 T A 18: 50,011,326 (GRCm39) M1161K probably damaging Het
Efcab14 T A 4: 115,595,857 (GRCm39) M1K probably null Het
Etl4 C T 2: 20,534,772 (GRCm39) Q76* probably null Het
Fmc1 T C 6: 38,516,223 (GRCm39) S90P probably benign Het
Fn1 T C 1: 71,679,465 (GRCm39) Y511C probably damaging Het
Foxd2 T C 4: 114,765,483 (GRCm39) H179R unknown Het
Hk2 C T 6: 82,711,942 (GRCm39) D548N possibly damaging Het
Lct T C 1: 128,231,963 (GRCm39) M629V probably damaging Het
Lrp5 G A 19: 3,662,330 (GRCm39) R173C probably damaging Het
Mapk12 A T 15: 89,019,840 (GRCm39) H122Q possibly damaging Het
Mdfic C T 6: 15,799,710 (GRCm39) T279I probably damaging Het
Mycbp2 A G 14: 103,412,233 (GRCm39) V2580A probably damaging Het
Mylk3 A G 8: 86,078,676 (GRCm39) I476T probably damaging Het
Ncapg G A 5: 45,831,705 (GRCm39) V184I probably benign Het
Or4a71 T A 2: 89,358,076 (GRCm39) H226L possibly damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rbm45 A G 2: 76,205,768 (GRCm39) S207G probably benign Het
Reln T C 5: 22,115,847 (GRCm39) I3054V possibly damaging Het
Rreb1 G T 13: 38,077,941 (GRCm39) R51L probably damaging Het
Scube2 A T 7: 109,442,383 (GRCm39) probably benign Het
Slc15a2 A G 16: 36,602,666 (GRCm39) F65S probably damaging Het
Slc17a8 G T 10: 89,427,000 (GRCm39) probably benign Het
Snapc4 G A 2: 26,255,510 (GRCm39) Q1005* probably null Het
Stag3 A G 5: 138,297,101 (GRCm39) I550M probably damaging Het
Steap4 G T 5: 8,030,494 (GRCm39) R450L probably damaging Het
Strn4 T C 7: 16,556,923 (GRCm39) probably benign Het
Stxbp3 C T 3: 108,712,549 (GRCm39) probably null Het
Syngr1 A G 15: 80,000,240 (GRCm39) D117G probably damaging Het
Tbc1d10b A T 7: 126,798,967 (GRCm39) I513N possibly damaging Het
Other mutations in Pla2g15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01522:Pla2g15 APN 8 106,889,748 (GRCm39) missense probably benign 0.00
IGL02719:Pla2g15 APN 8 106,886,828 (GRCm39) missense probably benign 0.01
IGL03065:Pla2g15 APN 8 106,886,851 (GRCm39) missense probably benign 0.20
R0125:Pla2g15 UTSW 8 106,889,756 (GRCm39) missense probably benign 0.00
R1691:Pla2g15 UTSW 8 106,881,581 (GRCm39) missense possibly damaging 0.93
R1939:Pla2g15 UTSW 8 106,889,927 (GRCm39) missense probably damaging 0.96
R4633:Pla2g15 UTSW 8 106,886,887 (GRCm39) missense probably damaging 1.00
R4702:Pla2g15 UTSW 8 106,889,691 (GRCm39) missense probably benign 0.08
R4703:Pla2g15 UTSW 8 106,889,691 (GRCm39) missense probably benign 0.08
R4705:Pla2g15 UTSW 8 106,889,691 (GRCm39) missense probably benign 0.08
R4766:Pla2g15 UTSW 8 106,889,703 (GRCm39) missense probably damaging 1.00
R4928:Pla2g15 UTSW 8 106,889,850 (GRCm39) nonsense probably null
R5543:Pla2g15 UTSW 8 106,887,775 (GRCm39) missense probably damaging 0.99
R6489:Pla2g15 UTSW 8 106,889,826 (GRCm39) missense probably benign 0.10
R6802:Pla2g15 UTSW 8 106,877,213 (GRCm39) missense probably damaging 0.99
R7381:Pla2g15 UTSW 8 106,889,576 (GRCm39) missense probably benign 0.03
R9245:Pla2g15 UTSW 8 106,889,539 (GRCm39) missense possibly damaging 0.81
R9302:Pla2g15 UTSW 8 106,877,201 (GRCm39) missense probably benign 0.04
R9623:Pla2g15 UTSW 8 106,887,275 (GRCm39) missense possibly damaging 0.90
Z1177:Pla2g15 UTSW 8 106,889,619 (GRCm39) missense probably benign 0.19
Predicted Primers PCR Primer
(F):5'- TTTGGGGAAACTAGTCTGCTCC -3'
(R):5'- TGCCGGCAGAATAACGAGAC -3'

Sequencing Primer
(F):5'- GGGAAACTAGTCTGCTCCTACTTAG -3'
(R):5'- TGGCAACTGGCATGCAC -3'
Genotyping

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

PCR Primers

R38870025_PCR_F: 5’- TTTGGGGAAACTAGTCTGCTCC-3’

R38870025_PCR_R: 5’- TGCCGGCAGAATAACGAGAC-3’

Sequencing Primers

R38870025_SEQ_F: 5’- GGGAAACTAGTCTGCTCCTACTTAG-3’
 

R38870025_SEQ_R: 5’- TGGCAACTGGCATGCAC-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 445 nucleotides is amplified (NCBI RefSeq: NC_000074, chromosome 8):

tttggggaaa ctagtctgct cctacttagt ttccagtacc ctttgcaccc cctagtcctg       

ggtccgctct gtcgattggt tagcgattca ggtcccagga cacttcctgc ctgacccctg      

cttggctctg gcctgcagat gaaaacgggc cctacttctt ggccctgcga gagatgatcg      

aggagatgta ccagatgtat gggggccccg tggtgctggt cgcccacagc atgggcaacg      

tgtacatgct ctactttctg cagcggcagc cacaagtctg gaaggacaaa tatatccatg      

ccttcgtctc actgggggcg ccctgggggg gcgtggccaa gacgctgcgt gtcctggcct      

caggtaagac ctcctgggcc cctcgtgcat gccagttgcc agagtgccgt ctcctgtcgt      

cggtggtctc gttattctgc cggca

Primer binding sites are underlined and the sequencing primer is highlighted; the mutated nucleotide is shown in red text (Chr. + strand, A>G).
Posted On 2015-04-17