Incidental Mutation 'IGL02334:Pla2g4e'
ID |
288806 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pla2g4e
|
Ensembl Gene |
ENSMUSG00000050211 |
Gene Name |
phospholipase A2, group IVE |
Synonyms |
Pla2epsilon, 2310026J01Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02334
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
119996893-120075816 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 120017717 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 203
(F203S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000087525
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090071]
|
AlphaFold |
Q50L42 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000090071
AA Change: F203S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000087525 Gene: ENSMUSG00000050211 AA Change: F203S
Domain | Start | End | E-Value | Type |
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152263
|
Coding Region Coverage |
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd46 |
A |
G |
15: 36,486,079 (GRCm39) |
V58A |
possibly damaging |
Het |
Dhx16 |
A |
G |
17: 36,194,949 (GRCm39) |
E492G |
probably damaging |
Het |
Dock1 |
T |
C |
7: 134,747,294 (GRCm39) |
M1535T |
probably damaging |
Het |
Evpl |
G |
T |
11: 116,121,850 (GRCm39) |
S344* |
probably null |
Het |
F2 |
A |
T |
2: 91,463,439 (GRCm39) |
H148Q |
probably benign |
Het |
Fam83e |
A |
T |
7: 45,373,345 (GRCm39) |
H237L |
probably benign |
Het |
Fscn3 |
A |
T |
6: 28,428,153 (GRCm39) |
|
probably null |
Het |
Gpr162 |
C |
A |
6: 124,838,123 (GRCm39) |
G176C |
probably damaging |
Het |
Icam5 |
A |
G |
9: 20,946,505 (GRCm39) |
D376G |
possibly damaging |
Het |
Ift172 |
T |
C |
5: 31,440,402 (GRCm39) |
K295R |
probably benign |
Het |
Irf3 |
A |
G |
7: 44,648,134 (GRCm39) |
|
probably benign |
Het |
Itga2 |
A |
T |
13: 115,001,845 (GRCm39) |
|
probably null |
Het |
Klhl11 |
A |
T |
11: 100,354,662 (GRCm39) |
D386E |
probably damaging |
Het |
Myh4 |
G |
T |
11: 67,136,373 (GRCm39) |
G417V |
probably damaging |
Het |
Nlrp3 |
A |
G |
11: 59,455,909 (GRCm39) |
T902A |
probably benign |
Het |
Or2y17 |
A |
G |
11: 49,232,018 (GRCm39) |
I220V |
probably benign |
Het |
Or4a72 |
A |
C |
2: 89,405,668 (GRCm39) |
M134R |
possibly damaging |
Het |
Or9g3 |
A |
T |
2: 85,590,503 (GRCm39) |
Y72* |
probably null |
Het |
Phf10 |
T |
C |
17: 15,174,361 (GRCm39) |
Y239C |
probably damaging |
Het |
Pramel1 |
T |
C |
4: 143,124,096 (GRCm39) |
F257S |
probably damaging |
Het |
Prodh2 |
A |
G |
7: 30,205,803 (GRCm39) |
H213R |
probably damaging |
Het |
Rgs7 |
C |
T |
1: 175,016,788 (GRCm39) |
D61N |
probably damaging |
Het |
Rhobtb1 |
T |
A |
10: 69,121,508 (GRCm39) |
|
probably benign |
Het |
Sct |
C |
A |
7: 140,858,530 (GRCm39) |
|
probably null |
Het |
Slc17a9 |
G |
A |
2: 180,382,536 (GRCm39) |
|
probably null |
Het |
Spire1 |
T |
C |
18: 67,639,725 (GRCm39) |
T263A |
probably benign |
Het |
Trpm1 |
A |
T |
7: 63,895,690 (GRCm39) |
|
probably null |
Het |
Trpm7 |
G |
T |
2: 126,649,282 (GRCm39) |
N1469K |
probably benign |
Het |
Zfp750 |
G |
T |
11: 121,402,837 (GRCm39) |
T637K |
probably benign |
Het |
Zswim5 |
T |
C |
4: 116,843,841 (GRCm39) |
C960R |
probably damaging |
Het |
Zwint |
T |
A |
10: 72,490,815 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Pla2g4e |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
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 |
|
Posted On |
2015-04-16 |