Incidental Mutation 'R6920:Pla2g4e'
ID 539559
Institutional Source Beutler Lab
Gene Symbol Pla2g4e
Ensembl Gene ENSMUSG00000050211
Gene Name phospholipase A2, group IVE
Synonyms Pla2epsilon, 2310026J01Rik
MMRRC Submission 045040-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6920 (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 120015795 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 250 (E250K)
Ref Sequence ENSEMBL: ENSMUSP00000087525 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090071]
AlphaFold Q50L42
Predicted Effect possibly damaging
Transcript: ENSMUST00000090071
AA Change: E250K

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000087525
Gene: ENSMUSG00000050211
AA Change: E250K

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
Meta Mutation Damage Score 0.1246 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 97.2%
Validation Efficiency 100% (65/65)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A T 3: 137,773,811 (GRCm39) Y1000F probably damaging Het
1700018B08Rik A G 8: 122,262,160 (GRCm39) probably null Het
Aadat T C 8: 60,982,467 (GRCm39) F245L probably damaging Het
Adcy10 T G 1: 165,403,227 (GRCm39) L1575W probably damaging Het
Anks4b A T 7: 119,782,231 (GRCm39) T421S probably damaging Het
Anpep A T 7: 79,475,097 (GRCm39) I155N probably damaging Het
Arnt T C 3: 95,397,932 (GRCm39) F572L probably damaging Het
Brip1 G A 11: 86,039,362 (GRCm39) Q391* probably null Het
Brpf3 C A 17: 29,042,970 (GRCm39) H1004N probably benign Het
Cand2 T A 6: 115,768,250 (GRCm39) V465D possibly damaging Het
Card10 G T 15: 78,686,609 (GRCm39) Y69* probably null Het
Catsperd A T 17: 56,962,175 (GRCm39) K450* probably null Het
Ccdc137 T C 11: 120,351,009 (GRCm39) L137P probably damaging Het
Cic T C 7: 24,990,107 (GRCm39) S1905P probably damaging Het
Csmd3 C T 15: 47,507,601 (GRCm39) G2971S probably damaging Het
Dmxl2 A G 9: 54,379,496 (GRCm39) Y183H probably damaging Het
Drosha T C 15: 12,834,396 (GRCm39) Y167H unknown Het
E330034G19Rik A G 14: 24,358,310 (GRCm39) K214R unknown Het
Fam180a T G 6: 35,290,765 (GRCm39) I73L possibly damaging Het
Fbxo28 G T 1: 182,168,986 (GRCm39) H51N probably benign Het
Gm12728 T G 4: 105,647,533 (GRCm39) probably null Het
Gm973 T C 1: 59,591,620 (GRCm39) C335R possibly damaging Het
Gpx8 A G 13: 113,179,770 (GRCm39) V177A probably damaging Het
Hdlbp A G 1: 93,340,083 (GRCm39) probably null Het
Htt T G 5: 35,034,444 (GRCm39) Y1972D probably null Het
Igkv6-14 T C 6: 70,412,116 (GRCm39) Y56C possibly damaging Het
Kcnma1 A G 14: 23,576,602 (GRCm39) probably null Het
Klc1 T C 12: 111,754,019 (GRCm39) S105P probably damaging Het
Klhl20 T C 1: 160,921,266 (GRCm39) D63G possibly damaging Het
Lamc3 A G 2: 31,798,701 (GRCm39) D469G probably damaging Het
Lrit1 G C 14: 36,782,052 (GRCm39) V242L probably damaging Het
Mboat4 G A 8: 34,591,865 (GRCm39) R434H probably benign Het
Mttp T C 3: 137,821,043 (GRCm39) K270E possibly damaging Het
Muc5ac G A 7: 141,347,035 (GRCm39) C337Y possibly damaging Het
Nars1 A G 18: 64,634,471 (GRCm39) V484A probably damaging Het
Noxa1 G T 2: 24,981,844 (GRCm39) probably null Het
Or14c45 A G 7: 86,176,522 (GRCm39) T186A probably benign Het
Or7g18 T A 9: 18,786,821 (GRCm39) L63H probably damaging Het
Osbpl7 G A 11: 96,941,584 (GRCm39) G36S probably damaging Het
P4htm C T 9: 108,460,812 (GRCm39) G220D probably benign Het
Pcdhga7 A G 18: 37,848,199 (GRCm39) I69V probably benign Het
Plcd4 A G 1: 74,604,994 (GRCm39) probably benign Het
Ppfia3 C A 7: 45,008,231 (GRCm39) G213V possibly damaging Het
Ppp1r1a A G 15: 103,441,513 (GRCm39) S67P probably damaging Het
Prss43 T C 9: 110,657,680 (GRCm39) F193S probably benign Het
Rfx1 A G 8: 84,822,117 (GRCm39) Y872C probably damaging Het
Rhot1 T A 11: 80,132,921 (GRCm39) N218K probably benign Het
Sall1 A G 8: 89,757,021 (GRCm39) F1028L probably damaging Het
Siglec1 G A 2: 130,919,997 (GRCm39) Q845* probably null Het
Slc38a9 C T 13: 112,838,060 (GRCm39) T275I possibly damaging Het
Slc39a4 A T 15: 76,497,470 (GRCm39) S481T probably damaging Het
Ssr1 A T 13: 38,169,998 (GRCm39) N191K probably damaging Het
Tenm4 A T 7: 96,544,757 (GRCm39) S2258C probably damaging Het
Tm7sf3 T G 6: 146,507,645 (GRCm39) R472S possibly damaging Het
Tmprss11a G A 5: 86,576,494 (GRCm39) T119M probably benign Het
Traip C T 9: 107,838,240 (GRCm39) R142* probably null Het
Utrn T C 10: 12,626,214 (GRCm39) N100D probably damaging Het
Vmn1r74 T C 7: 11,581,575 (GRCm39) S292P probably benign Het
Vmn2r71 A T 7: 85,273,108 (GRCm39) I641F probably damaging Het
Vmn2r9 T A 5: 108,996,912 (GRCm39) Y119F possibly damaging Het
Vmn2r98 A G 17: 19,285,510 (GRCm39) N110S probably damaging Het
Vwce A G 19: 10,642,057 (GRCm39) T928A probably benign Het
Zfp608 T A 18: 55,121,337 (GRCm39) K83N probably damaging Het
Zfp808 A G 13: 62,320,982 (GRCm39) H737R probably benign Het
Zswim4 T C 8: 84,940,714 (GRCm39) N795S 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
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'- CTAGAAGGATGGTTGGGCTCAG -3'
(R):5'- CTCCTGGCACATCAAGACAG -3'

Sequencing Primer
(F):5'- AGGGGCTCCTCTGTTAGC -3'
(R):5'- TCCCCTGGAGCTGGAGTTATAAATAG -3'
Posted On 2018-11-06