Incidental Mutation 'R5051:Pla2g4e'
ID 394633
Institutional Source Beutler Lab
Gene Symbol Pla2g4e
Ensembl Gene ENSMUSG00000050211
Gene Name phospholipase A2, group IVE
Synonyms Pla2epsilon, 2310026J01Rik
MMRRC Submission 042641-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5051 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 119996893-120075816 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 120004785 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 520 (I520F)
Ref Sequence ENSEMBL: ENSMUSP00000087525 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090071]
AlphaFold Q50L42
Predicted Effect probably damaging
Transcript: ENSMUST00000090071
AA Change: I520F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000087525
Gene: ENSMUSG00000050211
AA Change: I520F

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
Meta Mutation Damage Score 0.3157 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.3%
  • 10x: 95.9%
  • 20x: 90.6%
Validation Efficiency 98% (62/63)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730522E02Rik G A 11: 25,718,990 (GRCm39) T51I unknown Het
Alms1 C T 6: 85,604,916 (GRCm39) Q2189* probably null Het
Ank1 A T 8: 23,609,397 (GRCm39) D1363V probably damaging Het
Ap3d1 T G 10: 80,555,033 (GRCm39) T431P probably damaging Het
Arnt A G 3: 95,377,648 (GRCm39) T125A probably benign Het
Atp10a TGTCCGTC TGTC 7: 58,389,994 (GRCm39) probably null Het
Bscl2 A T 19: 8,822,643 (GRCm39) R195* probably null Het
Ccdc146 C T 5: 21,508,081 (GRCm39) V656I possibly damaging Het
Ccn6 A G 10: 39,031,152 (GRCm39) F124L probably benign Het
Ccr4 T C 9: 114,321,714 (GRCm39) Y117C probably damaging Het
Cd55 T A 1: 130,376,085 (GRCm39) D355V probably damaging Het
Cntn6 T A 6: 104,749,558 (GRCm39) I259N probably damaging Het
Cspg4 A G 9: 56,793,020 (GRCm39) I252V possibly damaging Het
Dmbt1 T C 7: 130,696,472 (GRCm39) V895A probably benign Het
Ect2 A G 3: 27,156,635 (GRCm39) V775A probably benign Het
Gm14486 T C 2: 30,548,889 (GRCm39) noncoding transcript Het
Grin2b T C 6: 135,756,393 (GRCm39) N444S possibly damaging Het
Heatr5b T C 17: 79,102,703 (GRCm39) D1225G probably damaging Het
Il1rl2 G A 1: 40,382,254 (GRCm39) V189I probably benign Het
Kif1a G A 1: 93,003,876 (GRCm39) probably null Het
Ltbr T A 6: 125,289,733 (GRCm39) T154S probably damaging Het
Mrgpra6 C T 7: 46,835,690 (GRCm39) V244I probably benign Het
Myo15a G A 11: 60,378,251 (GRCm39) probably null Het
Ndufs1 A G 1: 63,204,106 (GRCm39) probably null Het
Nectin3 A T 16: 46,268,913 (GRCm39) N496K possibly damaging Het
Nkd2 A G 13: 73,973,195 (GRCm39) V147A probably benign Het
Nlrp3 G C 11: 59,457,025 (GRCm39) R1013P probably benign Het
Or4d11 C A 19: 12,013,288 (GRCm39) V273F possibly damaging Het
Or4k36 T A 2: 111,146,599 (GRCm39) Y258* probably null Het
Pdk2 T C 11: 94,919,598 (GRCm39) S263G probably benign Het
Plat A G 8: 23,263,688 (GRCm39) T196A probably benign Het
Podn T A 4: 107,872,043 (GRCm39) D400V probably benign Het
Poteg T C 8: 27,943,357 (GRCm39) V147A possibly damaging Het
Prkar2a A G 9: 108,622,690 (GRCm39) N315D probably benign Het
Rac2 A G 15: 78,449,134 (GRCm39) I13T possibly damaging Het
Rangap1 A C 15: 81,594,664 (GRCm39) D388E probably benign Het
Relch T A 1: 105,619,711 (GRCm39) N313K possibly damaging Het
Sp140 T A 1: 85,538,549 (GRCm39) D95E possibly damaging Het
Supv3l1 A C 10: 62,279,196 (GRCm39) I240S probably damaging Het
Sympk C T 7: 18,769,967 (GRCm39) R215C probably benign Het
Tead4 A C 6: 128,271,262 (GRCm39) probably benign Het
Tex10 G A 4: 48,460,019 (GRCm39) A444V possibly damaging Het
Tgds A T 14: 118,365,639 (GRCm39) I73K probably damaging Het
Tmem117 C A 15: 94,612,794 (GRCm39) T110K probably damaging Het
Trim30a T A 7: 104,060,913 (GRCm39) probably benign Het
Unc80 C T 1: 66,548,636 (GRCm39) T636I probably damaging Het
Ybey G A 10: 76,304,173 (GRCm39) R10W probably damaging Het
Zap70 A G 1: 36,820,532 (GRCm39) I576V probably benign Het
Zfp64 T C 2: 168,768,304 (GRCm39) D436G probably damaging 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
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
R7300:Pla2g4e UTSW 2 120,021,680 (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'- CTGATCGGCTCCACTTATGAGG -3'
(R):5'- ATGCATTTAAGAGTTGACAGCTCC -3'

Sequencing Primer
(F):5'- CCACTTATGAGGGAGATTTCTTCAGC -3'
(R):5'- TTAAGAGTTGACAGCTCCAGTCG -3'
Posted On 2016-06-15