Incidental Mutation 'R7300:Pla2g4e'
ID 566911
Institutional Source Beutler Lab
Gene Symbol Pla2g4e
Ensembl Gene ENSMUSG00000050211
Gene Name phospholipase A2, group IVE
Synonyms Pla2epsilon, 2310026J01Rik
MMRRC Submission 045404-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7300 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 119996893-120075816 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 120021680 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 143 (V143I)
Ref Sequence ENSEMBL: ENSMUSP00000087525 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090071]
AlphaFold Q50L42
Predicted Effect probably damaging
Transcript: ENSMUST00000090071
AA Change: V143I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000087525
Gene: ENSMUSG00000050211
AA Change: V143I

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 94% (45/48)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actmap G A 7: 26,900,548 (GRCm39) A176T probably damaging Het
Adgrd1 T C 5: 129,174,411 (GRCm39) probably null Het
Atr T C 9: 95,747,423 (GRCm39) I235T probably benign Het
Bpifb5 A G 2: 154,070,066 (GRCm39) E172G possibly damaging Het
Btbd2 A T 10: 80,480,100 (GRCm39) I420N probably damaging Het
Ccdc141 G A 2: 76,845,038 (GRCm39) T1343I probably benign Het
Cd59b A T 2: 103,914,795 (GRCm39) K64N possibly damaging Het
Cd63 A G 10: 128,748,034 (GRCm39) N144S probably benign Het
Cip2a A G 16: 48,834,217 (GRCm39) K631E probably damaging Het
Col4a4 C T 1: 82,464,361 (GRCm39) R989Q unknown Het
Cyp4a31 A G 4: 115,427,468 (GRCm39) T225A probably benign Het
Dnah1 T G 14: 30,991,798 (GRCm39) E3068A probably benign Het
Fpgt C T 3: 154,792,612 (GRCm39) V472I probably damaging Het
Gm4779 TCGGGGCCGGGGCCGGGGCCG TCGGGGCCGGGGCCGGGGCCGGGGCCG X: 100,837,777 (GRCm39) probably benign Het
Homer3 T C 8: 70,737,953 (GRCm39) M1T probably null Het
Ighv1-4 T C 12: 114,450,908 (GRCm39) I67V probably benign Het
Il17ra A G 6: 120,459,063 (GRCm39) D738G probably benign Het
Il2ra A G 2: 11,681,721 (GRCm39) T109A not run Het
Itgb6 T C 2: 60,435,650 (GRCm39) D700G probably benign Het
Krt31 T C 11: 99,938,612 (GRCm39) E327G probably damaging Het
Large1 A C 8: 73,564,224 (GRCm39) L514R probably damaging Het
Map3k8 C T 18: 4,349,076 (GRCm39) V81M probably damaging Het
Mstn T C 1: 53,103,239 (GRCm39) S192P probably benign Het
Olfml3 T C 3: 103,643,176 (GRCm39) K402E probably damaging Het
Or13a27 A T 7: 139,925,268 (GRCm39) N211K probably damaging Het
Or2n1c A C 17: 38,519,588 (GRCm39) T151P possibly damaging Het
Or2y1c C T 11: 49,361,473 (GRCm39) T165I probably benign Het
Or52i2 A G 7: 102,319,417 (GRCm39) S97G probably benign Het
Or7g17 T C 9: 18,768,530 (GRCm39) I194T not run Het
Or8k25 T C 2: 86,244,330 (GRCm39) E22G probably null Het
Pde4a T C 9: 21,117,618 (GRCm39) S627P probably damaging Het
Pdxdc1 A G 16: 13,697,374 (GRCm39) I102T probably damaging Het
Phldb2 A G 16: 45,645,925 (GRCm39) S174P probably damaging Het
Pou4f2 C T 8: 79,162,735 (GRCm39) probably null Het
Ppl C T 16: 4,920,235 (GRCm39) V387M possibly damaging Het
Pramel43 A T 5: 94,760,655 (GRCm39) D340E probably benign Het
Rarg A T 15: 102,160,852 (GRCm39) probably null Het
Ryr1 T C 7: 28,758,936 (GRCm39) Y3414C probably damaging Het
Serpinb8 T A 1: 107,535,053 (GRCm39) *375K probably null Het
Sim1 C T 10: 50,785,614 (GRCm39) H228Y probably benign Het
Spag4 A T 2: 155,907,541 (GRCm39) H87L probably benign Het
Ttc17 A T 2: 94,205,479 (GRCm39) L289Q probably damaging Het
Ubac2 T C 14: 122,142,586 (GRCm39) L28P probably damaging Het
Vmn2r31 C A 7: 7,387,775 (GRCm39) A599S possibly damaging Het
Vps13c T C 9: 67,847,826 (GRCm39) V2196A probably benign Het
Zswim5 A T 4: 116,833,102 (GRCm39) I612F probably damaging Het
Zzef1 T A 11: 72,765,830 (GRCm39) H1452Q probably benign Het
Other mutations in Pla2g4e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00470:Pla2g4e APN 2 120,015,719 (GRCm39) missense probably benign
IGL01712:Pla2g4e APN 2 120,019,884 (GRCm39) critical splice donor site probably null
IGL01859:Pla2g4e APN 2 120,013,214 (GRCm39) missense possibly damaging 0.70
IGL02334:Pla2g4e APN 2 120,017,717 (GRCm39) missense probably benign
FR4737:Pla2g4e UTSW 2 120,075,205 (GRCm39) small deletion probably benign
R0157:Pla2g4e UTSW 2 120,000,662 (GRCm39) missense probably benign 0.00
R0578:Pla2g4e UTSW 2 120,075,162 (GRCm39) splice site probably benign
R0675:Pla2g4e UTSW 2 120,030,679 (GRCm39) splice site probably benign
R1278:Pla2g4e UTSW 2 119,998,951 (GRCm39) critical splice donor site probably null
R1346:Pla2g4e UTSW 2 120,013,253 (GRCm39) missense probably damaging 1.00
R1760:Pla2g4e UTSW 2 120,000,527 (GRCm39) missense possibly damaging 0.50
R1773:Pla2g4e UTSW 2 120,075,202 (GRCm39) missense probably benign
R1792:Pla2g4e UTSW 2 119,998,955 (GRCm39) missense probably damaging 1.00
R2129:Pla2g4e UTSW 2 120,013,292 (GRCm39) missense probably damaging 0.99
R2160:Pla2g4e UTSW 2 120,015,687 (GRCm39) missense probably benign 0.00
R2191:Pla2g4e UTSW 2 120,021,680 (GRCm39) frame shift probably null
R3901:Pla2g4e UTSW 2 119,999,085 (GRCm39) missense probably benign 0.00
R4342:Pla2g4e UTSW 2 120,016,927 (GRCm39) intron probably benign
R4414:Pla2g4e UTSW 2 120,013,194 (GRCm39) missense probably benign
R4460:Pla2g4e UTSW 2 120,016,863 (GRCm39) missense possibly damaging 0.53
R4581:Pla2g4e UTSW 2 120,016,863 (GRCm39) missense possibly damaging 0.53
R4599:Pla2g4e UTSW 2 120,016,863 (GRCm39) missense possibly damaging 0.53
R4601:Pla2g4e UTSW 2 120,016,863 (GRCm39) missense possibly damaging 0.53
R4610:Pla2g4e UTSW 2 120,016,863 (GRCm39) missense possibly damaging 0.53
R4611:Pla2g4e UTSW 2 120,016,863 (GRCm39) missense possibly damaging 0.53
R4664:Pla2g4e UTSW 2 120,001,669 (GRCm39) missense probably damaging 0.97
R4688:Pla2g4e UTSW 2 119,998,414 (GRCm39) missense possibly damaging 0.82
R4691:Pla2g4e UTSW 2 120,004,781 (GRCm39) missense probably damaging 1.00
R4944:Pla2g4e UTSW 2 120,001,718 (GRCm39) missense probably benign 0.01
R5051:Pla2g4e UTSW 2 120,004,785 (GRCm39) missense probably damaging 1.00
R5285:Pla2g4e UTSW 2 120,019,985 (GRCm39) missense probably damaging 1.00
R5373:Pla2g4e UTSW 2 120,016,876 (GRCm39) missense probably benign 0.30
R5374:Pla2g4e UTSW 2 120,016,876 (GRCm39) missense probably benign 0.30
R5505:Pla2g4e UTSW 2 120,075,256 (GRCm39) missense probably benign 0.08
R5702:Pla2g4e UTSW 2 120,018,992 (GRCm39) missense possibly damaging 0.61
R6300:Pla2g4e UTSW 2 120,013,219 (GRCm39) missense probably benign 0.00
R6711:Pla2g4e UTSW 2 120,001,751 (GRCm39) missense probably benign 0.00
R6920:Pla2g4e UTSW 2 120,015,795 (GRCm39) missense possibly damaging 0.82
R6961:Pla2g4e UTSW 2 120,004,851 (GRCm39) splice site probably null
R6987:Pla2g4e UTSW 2 120,016,861 (GRCm39) missense probably benign 0.01
R7028:Pla2g4e UTSW 2 120,000,676 (GRCm39) missense probably damaging 1.00
R7138:Pla2g4e UTSW 2 120,001,759 (GRCm39) missense probably damaging 1.00
R7355:Pla2g4e UTSW 2 120,011,982 (GRCm39) missense possibly damaging 0.91
R7502:Pla2g4e UTSW 2 120,004,819 (GRCm39) splice site probably null
R7849:Pla2g4e UTSW 2 120,015,803 (GRCm39) missense probably benign 0.32
R8288:Pla2g4e UTSW 2 120,018,990 (GRCm39) critical splice donor site probably null
R8686:Pla2g4e UTSW 2 120,075,172 (GRCm39) missense probably damaging 0.98
R9003:Pla2g4e UTSW 2 120,007,282 (GRCm39) missense probably benign 0.03
R9023:Pla2g4e UTSW 2 120,001,718 (GRCm39) missense probably benign 0.01
R9261:Pla2g4e UTSW 2 120,019,910 (GRCm39) missense probably benign 0.04
R9284:Pla2g4e UTSW 2 120,004,730 (GRCm39) splice site probably benign
R9299:Pla2g4e UTSW 2 120,002,204 (GRCm39) missense probably damaging 1.00
R9338:Pla2g4e UTSW 2 120,019,914 (GRCm39) missense probably benign 0.07
R9555:Pla2g4e UTSW 2 120,075,400 (GRCm39) start gained probably benign
R9604:Pla2g4e UTSW 2 120,015,680 (GRCm39) missense probably benign 0.02
RF044:Pla2g4e UTSW 2 120,075,205 (GRCm39) small deletion probably benign
Z1177:Pla2g4e UTSW 2 120,012,004 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TTAGCAGCCTCAGAGACACAG -3'
(R):5'- ACTGACAGGAGACATTGCTCTAG -3'

Sequencing Primer
(F):5'- CCTCAGAGACACAGAGGGAG -3'
(R):5'- GGATACTCTCTTTTGACTCCACAG -3'
Posted On 2019-06-26