Incidental Mutation 'R1792:Pla2g4e'
ID 201808
Institutional Source Beutler Lab
Gene Symbol Pla2g4e
Ensembl Gene ENSMUSG00000050211
Gene Name phospholipase A2, group IVE
Synonyms Pla2epsilon, 2310026J01Rik
MMRRC Submission 039822-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1792 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 120166412-120245335 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 120168474 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 803 (P803L)
Ref Sequence ENSEMBL: ENSMUSP00000087525 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090071]
AlphaFold Q50L42
Predicted Effect probably damaging
Transcript: ENSMUST00000090071
AA Change: P803L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000087525
Gene: ENSMUSG00000050211
AA Change: P803L

DomainStartEndE-ValueType
low complexity region 61 73 N/A INTRINSIC
C2 82 182 3.42e-14 SMART
low complexity region 191 207 N/A INTRINSIC
PLAc 311 818 5.17e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127009
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136845
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.2%
  • 20x: 92.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cytosolic phospholipase A2 group IV family. Members of this family are involved in regulation of membrane tubule-mediated transport. The enzyme encoded by this member of the family plays a role in trafficking through the clathrin-independent endocytic pathway. The enzyme regulates the recycling process via formation of tubules that transport internalized clathrin-independent cargo proteins back to the cell surface. [provided by RefSeq, Jan 2017]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 C T 11: 110,184,044 (GRCm38) V1398I probably benign Het
Ackr3 A T 1: 90,214,898 (GRCm38) N360Y probably benign Het
Acr T G 15: 89,573,143 (GRCm38) M198R probably benign Het
Adamts14 A T 10: 61,218,498 (GRCm38) M585K probably benign Het
Adgrb3 A T 1: 25,228,471 (GRCm38) C853S probably damaging Het
Arhgef28 G T 13: 97,931,186 (GRCm38) S1410R probably benign Het
Armc4 T C 18: 7,286,743 (GRCm38) T163A probably benign Het
Asprv1 T A 6: 86,628,372 (GRCm38) F67I possibly damaging Het
Atp8b4 T A 2: 126,325,294 (GRCm38) Y1095F probably benign Het
Cadps A G 14: 12,449,802 (GRCm38) S1136P possibly damaging Het
Ccdc36 A C 9: 108,404,912 (GRCm38) S526A possibly damaging Het
Ccdc57 T C 11: 120,897,881 (GRCm38) Q380R possibly damaging Het
Cdc45 A T 16: 18,807,340 (GRCm38) D142E probably benign Het
Cs A T 10: 128,360,079 (GRCm38) N386Y possibly damaging Het
Dsc3 A T 18: 19,986,998 (GRCm38) V201E probably damaging Het
Dusp26 G T 8: 31,091,935 (GRCm38) R19L probably benign Het
Esyt3 C A 9: 99,358,116 (GRCm38) E92* probably null Het
Ext2 T C 2: 93,704,545 (GRCm38) N625D probably damaging Het
Fam208b T C 13: 3,590,559 (GRCm38) K193E possibly damaging Het
Flvcr2 A T 12: 85,747,155 (GRCm38) K102* probably null Het
Fmnl2 T A 2: 53,042,317 (GRCm38) S103T possibly damaging Het
Fmo4 T A 1: 162,794,290 (GRCm38) I451F probably benign Het
Gak A T 5: 108,585,531 (GRCm38) Y47* probably null Het
Gbp10 A T 5: 105,224,300 (GRCm38) L198Q probably damaging Het
Gm11559 T A 11: 99,864,929 (GRCm38) S135T unknown Het
Gm14496 A T 2: 181,996,153 (GRCm38) D340V probably benign Het
Grin2a T C 16: 9,992,395 (GRCm38) T47A possibly damaging Het
Gtf2ird1 A T 5: 134,366,936 (GRCm38) probably null Het
Herc4 T A 10: 63,245,901 (GRCm38) M1K probably null Het
Hirip3 T A 7: 126,862,620 (GRCm38) V29E probably damaging Het
Hs3st5 A G 10: 36,832,724 (GRCm38) D85G probably benign Het
Htt T A 5: 34,907,199 (GRCm38) S2981T probably damaging Het
Il20ra G A 10: 19,759,636 (GRCm38) V542I probably damaging Het
Itgb2l C A 16: 96,425,082 (GRCm38) C603F probably damaging Het
Klhl41 A C 2: 69,670,802 (GRCm38) K202N probably benign Het
Lct G A 1: 128,327,942 (GRCm38) S121F possibly damaging Het
Lhx6 C T 2: 36,087,375 (GRCm38) G355D probably damaging Het
Limk2 A G 11: 3,358,236 (GRCm38) V121A probably benign Het
Med1 T G 11: 98,157,283 (GRCm38) K896Q probably damaging Het
Muc6 A G 7: 141,634,458 (GRCm38) F2789S probably benign Het
Nemf T A 12: 69,312,569 (GRCm38) Y997F probably damaging Het
Nrap A G 19: 56,379,158 (GRCm38) S296P probably benign Het
Nrxn1 T C 17: 90,588,824 (GRCm38) N961D probably damaging Het
Olfr220 T C 1: 174,448,737 (GRCm38) V38A probably benign Het
Olfr398 A C 11: 73,983,847 (GRCm38) S254A probably benign Het
Olfr777 A T 10: 129,269,243 (GRCm38) F27I probably benign Het
Parp14 G A 16: 35,856,760 (GRCm38) A946V probably benign Het
Pdk4 T A 6: 5,489,166 (GRCm38) H247L probably damaging Het
Pkd1l3 T A 8: 109,632,605 (GRCm38) V866E probably damaging Het
Pnisr T C 4: 21,860,968 (GRCm38) V217A possibly damaging Het
Pole4 G T 6: 82,652,740 (GRCm38) P34T unknown Het
Pole4 G A 6: 82,652,739 (GRCm38) P34L unknown Het
Ptchd3 G A 11: 121,841,551 (GRCm38) W422* probably null Het
Rab1b C T 19: 5,100,485 (GRCm38) A167T probably benign Het
Rasal1 T C 5: 120,664,756 (GRCm38) M359T probably benign Het
Rexo4 T C 2: 26,960,236 (GRCm38) N310D probably benign Het
Rgma C T 7: 73,417,837 (GRCm38) T280M probably damaging Het
Rnaset2a A T 17: 8,145,576 (GRCm38) I43N probably damaging Het
Rtcb A T 10: 85,942,582 (GRCm38) V399E probably damaging Het
Scd4 T G 19: 44,337,574 (GRCm38) Y122* probably null Het
Sirt6 T C 10: 81,626,521 (GRCm38) I15V possibly damaging Het
Slamf8 A T 1: 172,587,959 (GRCm38) V104E possibly damaging Het
Slc12a4 A G 8: 105,951,843 (GRCm38) I285T possibly damaging Het
Slc25a13 G A 6: 6,115,104 (GRCm38) A207V possibly damaging Het
Slc6a21 T C 7: 45,280,731 (GRCm38) S185P probably benign Het
Smarcc2 A C 10: 128,463,871 (GRCm38) N135T probably damaging Het
Susd6 T C 12: 80,874,291 (GRCm38) S221P probably damaging Het
Syne1 C T 10: 5,040,975 (GRCm38) G8418D probably damaging Het
Tbc1d7 C T 13: 43,165,377 (GRCm38) V95I probably benign Het
Tcerg1l T C 7: 138,361,866 (GRCm38) D225G probably benign Het
Tfip11 A T 5: 112,329,397 (GRCm38) I82F possibly damaging Het
Tmem41a C T 16: 21,936,981 (GRCm38) G192S probably null Het
Trrap G A 5: 144,853,586 (GRCm38) A3619T possibly damaging Het
Tspoap1 G A 11: 87,765,881 (GRCm38) probably null Het
Wfdc21 T C 11: 83,747,057 (GRCm38) S11P probably benign Het
Zc2hc1b A T 10: 13,168,730 (GRCm38) V63E probably damaging Het
Other mutations in Pla2g4e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00470:Pla2g4e APN 2 120,185,238 (GRCm38) missense probably benign
IGL01712:Pla2g4e APN 2 120,189,403 (GRCm38) critical splice donor site probably null
IGL01859:Pla2g4e APN 2 120,182,733 (GRCm38) missense possibly damaging 0.70
IGL02334:Pla2g4e APN 2 120,187,236 (GRCm38) missense probably benign
FR4737:Pla2g4e UTSW 2 120,244,724 (GRCm38) small deletion probably benign
R0157:Pla2g4e UTSW 2 120,170,181 (GRCm38) missense probably benign 0.00
R0578:Pla2g4e UTSW 2 120,244,681 (GRCm38) splice site probably benign
R0675:Pla2g4e UTSW 2 120,200,198 (GRCm38) splice site probably benign
R1278:Pla2g4e UTSW 2 120,168,470 (GRCm38) critical splice donor site probably null
R1346:Pla2g4e UTSW 2 120,182,772 (GRCm38) missense probably damaging 1.00
R1760:Pla2g4e UTSW 2 120,170,046 (GRCm38) missense possibly damaging 0.50
R1773:Pla2g4e UTSW 2 120,244,721 (GRCm38) missense probably benign
R2129:Pla2g4e UTSW 2 120,182,811 (GRCm38) missense probably damaging 0.99
R2160:Pla2g4e UTSW 2 120,185,206 (GRCm38) missense probably benign 0.00
R2191:Pla2g4e UTSW 2 120,191,199 (GRCm38) frame shift probably null
R3901:Pla2g4e UTSW 2 120,168,604 (GRCm38) missense probably benign 0.00
R4342:Pla2g4e UTSW 2 120,186,446 (GRCm38) intron probably benign
R4414:Pla2g4e UTSW 2 120,182,713 (GRCm38) missense probably benign
R4460:Pla2g4e UTSW 2 120,186,382 (GRCm38) missense possibly damaging 0.53
R4581:Pla2g4e UTSW 2 120,186,382 (GRCm38) missense possibly damaging 0.53
R4599:Pla2g4e UTSW 2 120,186,382 (GRCm38) missense possibly damaging 0.53
R4601:Pla2g4e UTSW 2 120,186,382 (GRCm38) missense possibly damaging 0.53
R4610:Pla2g4e UTSW 2 120,186,382 (GRCm38) missense possibly damaging 0.53
R4611:Pla2g4e UTSW 2 120,186,382 (GRCm38) missense possibly damaging 0.53
R4664:Pla2g4e UTSW 2 120,171,188 (GRCm38) missense probably damaging 0.97
R4688:Pla2g4e UTSW 2 120,167,933 (GRCm38) missense possibly damaging 0.82
R4691:Pla2g4e UTSW 2 120,174,300 (GRCm38) missense probably damaging 1.00
R4944:Pla2g4e UTSW 2 120,171,237 (GRCm38) missense probably benign 0.01
R5051:Pla2g4e UTSW 2 120,174,304 (GRCm38) missense probably damaging 1.00
R5285:Pla2g4e UTSW 2 120,189,504 (GRCm38) missense probably damaging 1.00
R5373:Pla2g4e UTSW 2 120,186,395 (GRCm38) missense probably benign 0.30
R5374:Pla2g4e UTSW 2 120,186,395 (GRCm38) missense probably benign 0.30
R5505:Pla2g4e UTSW 2 120,244,775 (GRCm38) missense probably benign 0.08
R5702:Pla2g4e UTSW 2 120,188,511 (GRCm38) missense possibly damaging 0.61
R6300:Pla2g4e UTSW 2 120,182,738 (GRCm38) missense probably benign 0.00
R6711:Pla2g4e UTSW 2 120,171,270 (GRCm38) missense probably benign 0.00
R6920:Pla2g4e UTSW 2 120,185,314 (GRCm38) missense possibly damaging 0.82
R6961:Pla2g4e UTSW 2 120,174,370 (GRCm38) splice site probably null
R6987:Pla2g4e UTSW 2 120,186,380 (GRCm38) missense probably benign 0.01
R7028:Pla2g4e UTSW 2 120,170,195 (GRCm38) missense probably damaging 1.00
R7138:Pla2g4e UTSW 2 120,171,278 (GRCm38) missense probably damaging 1.00
R7300:Pla2g4e UTSW 2 120,191,199 (GRCm38) missense probably damaging 1.00
R7355:Pla2g4e UTSW 2 120,181,501 (GRCm38) missense possibly damaging 0.91
R7502:Pla2g4e UTSW 2 120,174,338 (GRCm38) splice site probably null
R7849:Pla2g4e UTSW 2 120,185,322 (GRCm38) missense probably benign 0.32
R8288:Pla2g4e UTSW 2 120,188,509 (GRCm38) critical splice donor site probably null
R8686:Pla2g4e UTSW 2 120,244,691 (GRCm38) missense probably damaging 0.98
R9003:Pla2g4e UTSW 2 120,176,801 (GRCm38) missense probably benign 0.03
R9023:Pla2g4e UTSW 2 120,171,237 (GRCm38) missense probably benign 0.01
R9261:Pla2g4e UTSW 2 120,189,429 (GRCm38) missense probably benign 0.04
R9284:Pla2g4e UTSW 2 120,174,249 (GRCm38) splice site probably benign
R9299:Pla2g4e UTSW 2 120,171,723 (GRCm38) missense probably damaging 1.00
R9338:Pla2g4e UTSW 2 120,189,433 (GRCm38) missense probably benign 0.07
R9555:Pla2g4e UTSW 2 120,244,919 (GRCm38) start gained probably benign
R9604:Pla2g4e UTSW 2 120,185,199 (GRCm38) missense probably benign 0.02
RF044:Pla2g4e UTSW 2 120,244,724 (GRCm38) small deletion probably benign
Z1177:Pla2g4e UTSW 2 120,181,523 (GRCm38) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GCACAGTTCCTTTCTTTCAAGAG -3'
(R):5'- AAACCTGTGAGTACTGTACCGAG -3'

Sequencing Primer
(F):5'- CTTTCAAGAGTCTACATAGCTGGG -3'
(R):5'- GTACTGTACCGAGCAGAAGATCC -3'
Posted On 2014-06-23