Incidental Mutation 'R6325:Pla2g2e'
ID 510231
Institutional Source Beutler Lab
Gene Symbol Pla2g2e
Ensembl Gene ENSMUSG00000028751
Gene Name phospholipase A2, group IIE
Synonyms mGIIEsPLA2s
MMRRC Submission 044479-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6325 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 138605253-138610125 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 138607736 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 39 (Y39H)
Ref Sequence ENSEMBL: ENSMUSP00000101430 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030531] [ENSMUST00000105803] [ENSMUST00000105804]
AlphaFold Q9QUL3
Predicted Effect probably damaging
Transcript: ENSMUST00000030531
AA Change: Y39H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030531
Gene: ENSMUSG00000028751
AA Change: Y39H

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
PA2c 20 136 9.74e-55 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105803
SMART Domains Protein: ENSMUSP00000101429
Gene: ENSMUSG00000028751

DomainStartEndE-ValueType
low complexity region 44 59 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000105804
AA Change: Y39H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101430
Gene: ENSMUSG00000028751
AA Change: Y39H

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
PA2c 20 136 9.74e-55 SMART
Meta Mutation Damage Score 0.9302 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 100% (30/30)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal IgE antigen-dependent passive cutaneous anaphylaxis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl T C 2: 127,964,944 (GRCm39) I596T probably benign Het
Arhgef4 G A 1: 34,762,558 (GRCm39) A605T unknown Het
Birc7 G A 2: 180,571,243 (GRCm39) D102N probably benign Het
Cct8 A C 16: 87,292,615 (GRCm39) probably null Het
Cntn5 T C 9: 10,144,328 (GRCm39) probably null Het
Cyp11a1 A G 9: 57,932,851 (GRCm39) N396D probably benign Het
Dip2b T C 15: 100,052,163 (GRCm39) S255P probably benign Het
Dnajc14 A G 10: 128,643,359 (GRCm39) E427G probably damaging Het
Fancm T A 12: 65,171,826 (GRCm39) M1822K probably damaging Het
Far2 T C 6: 148,058,995 (GRCm39) V227A probably benign Het
Fbrsl1 A G 5: 110,525,273 (GRCm39) F100L probably damaging Het
Gpd2 T C 2: 57,194,408 (GRCm39) S104P probably damaging Het
Grp T C 18: 66,006,824 (GRCm39) probably null Het
Hamp A C 7: 30,643,328 (GRCm39) H27Q probably benign Het
Hecw1 T A 13: 14,491,031 (GRCm39) S241C probably damaging Het
Itsn2 T A 12: 4,756,351 (GRCm39) I1349N probably damaging Het
Nr4a2 A G 2: 57,002,430 (GRCm39) Y8H probably damaging Het
Or2ak7 T A 11: 58,575,354 (GRCm39) Y218* probably null Het
Or2w1 A T 13: 21,317,245 (GRCm39) Q100L probably damaging Het
Plch1 C T 3: 63,688,811 (GRCm39) W131* probably null Het
Prss1l T C 6: 41,373,590 (GRCm39) V151A probably benign Het
Ptpn20 A T 14: 33,352,962 (GRCm39) T234S possibly damaging Het
Smarca2 T A 19: 26,655,763 (GRCm39) V810E probably damaging Het
Taar2 A T 10: 23,816,615 (GRCm39) M52L probably benign Het
Tex47 A T 5: 7,354,935 (GRCm39) R39* probably null Het
Tnxb T A 17: 34,911,398 (GRCm39) V1567D probably damaging Het
Ttll6 T C 11: 96,026,331 (GRCm39) Y79H probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Zfp462 C T 4: 55,080,680 (GRCm39) T1344I probably benign Het
Zfp804a A T 2: 82,087,382 (GRCm39) I404L possibly damaging Het
Other mutations in Pla2g2e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01688:Pla2g2e APN 4 138,606,781 (GRCm39) intron probably benign
IGL02692:Pla2g2e APN 4 138,609,870 (GRCm39) utr 3 prime probably benign
IGL02829:Pla2g2e APN 4 138,607,747 (GRCm39) nonsense probably null
R0729:Pla2g2e UTSW 4 138,608,046 (GRCm39) missense possibly damaging 0.82
R3615:Pla2g2e UTSW 4 138,607,685 (GRCm39) missense probably benign 0.00
R3616:Pla2g2e UTSW 4 138,607,685 (GRCm39) missense probably benign 0.00
R5053:Pla2g2e UTSW 4 138,607,686 (GRCm39) missense possibly damaging 0.90
R6597:Pla2g2e UTSW 4 138,607,984 (GRCm39) missense unknown
R6991:Pla2g2e UTSW 4 138,607,986 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGGAGTCAGATCTTAAGGGGAC -3'
(R):5'- TGGGCATGACAACACCTGTG -3'

Sequencing Primer
(F):5'- GGACTTCGGGATGGGTCC -3'
(R):5'- ACCTGTGGGGGCAGAGTTAATC -3'
Posted On 2018-04-02