Incidental Mutation 'R4342:Pla2g4e'
ID |
324158 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pla2g4e
|
Ensembl Gene |
ENSMUSG00000050211 |
Gene Name |
phospholipase A2, group IVE |
Synonyms |
Pla2epsilon, 2310026J01Rik |
MMRRC Submission |
041100-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4342 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
119996893-120075816 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to C
at 120016927 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000087525
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090071]
|
AlphaFold |
Q50L42 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000090071
|
SMART Domains |
Protein: ENSMUSP00000087525 Gene: ENSMUSG00000050211
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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
99% (68/69) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars2 |
T |
C |
17: 45,827,421 (GRCm39) |
C488R |
probably benign |
Het |
Adamts19 |
A |
T |
18: 59,075,572 (GRCm39) |
H489L |
probably damaging |
Het |
Ahnak |
T |
C |
19: 8,989,447 (GRCm39) |
V3577A |
possibly damaging |
Het |
Ajm1 |
A |
G |
2: 25,469,120 (GRCm39) |
Y264H |
possibly damaging |
Het |
Arhgap44 |
G |
A |
11: 64,902,887 (GRCm39) |
R401* |
probably null |
Het |
Cbx3-ps2 |
T |
C |
13: 65,707,502 (GRCm39) |
|
noncoding transcript |
Het |
Ccdc174 |
T |
A |
6: 91,862,337 (GRCm39) |
L86* |
probably null |
Het |
Cd38 |
A |
C |
5: 44,026,431 (GRCm39) |
I72L |
probably benign |
Het |
Cers4 |
T |
C |
8: 4,571,223 (GRCm39) |
L264P |
probably damaging |
Het |
Cldn23 |
A |
G |
8: 36,292,652 (GRCm39) |
S279P |
probably benign |
Het |
Cth |
T |
A |
3: 157,630,613 (GRCm39) |
T19S |
probably damaging |
Het |
Dnajc22 |
T |
A |
15: 99,002,345 (GRCm39) |
L330* |
probably null |
Het |
Epas1 |
G |
A |
17: 87,131,228 (GRCm39) |
C336Y |
probably damaging |
Het |
Evi5l |
A |
C |
8: 4,233,492 (GRCm39) |
|
probably benign |
Het |
Fbxl2 |
A |
T |
9: 113,814,374 (GRCm39) |
H272Q |
probably benign |
Het |
Fgd3 |
C |
T |
13: 49,427,185 (GRCm39) |
|
probably null |
Het |
Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
Fscn1 |
T |
C |
5: 142,957,776 (GRCm39) |
Y308H |
probably damaging |
Het |
Garin3 |
A |
G |
11: 46,298,043 (GRCm39) |
D449G |
possibly damaging |
Het |
Gm5878 |
G |
A |
6: 85,102,633 (GRCm39) |
R31* |
probably null |
Het |
Gpatch2l |
T |
C |
12: 86,307,453 (GRCm39) |
V277A |
probably benign |
Het |
Greb1l |
T |
A |
18: 10,544,561 (GRCm39) |
M1385K |
probably benign |
Het |
Grin2a |
A |
G |
16: 9,471,453 (GRCm39) |
I605T |
possibly damaging |
Het |
Hoxc11 |
C |
T |
15: 102,863,106 (GRCm39) |
S49F |
probably damaging |
Het |
Igf2r |
C |
T |
17: 12,928,398 (GRCm39) |
E982K |
possibly damaging |
Het |
Ighv10-3 |
A |
T |
12: 114,487,124 (GRCm39) |
M99K |
possibly damaging |
Het |
Itgb4 |
A |
T |
11: 115,879,555 (GRCm39) |
T614S |
probably benign |
Het |
Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
Mast4 |
A |
G |
13: 102,910,756 (GRCm39) |
V461A |
probably damaging |
Het |
Mcts2 |
G |
A |
2: 152,529,584 (GRCm39) |
V132M |
probably damaging |
Het |
Mical3 |
C |
A |
6: 120,911,799 (GRCm39) |
E1083* |
probably null |
Het |
Nbeal2 |
A |
G |
9: 110,460,861 (GRCm39) |
|
probably benign |
Het |
Nek4 |
T |
C |
14: 30,675,863 (GRCm39) |
V66A |
probably damaging |
Het |
Nfasc |
A |
G |
1: 132,559,443 (GRCm39) |
F229S |
probably damaging |
Het |
Nhsl1 |
T |
C |
10: 18,402,437 (GRCm39) |
F1221S |
probably damaging |
Het |
Nr1d1 |
T |
G |
11: 98,662,640 (GRCm39) |
K118Q |
probably damaging |
Het |
Ntaq1 |
T |
C |
15: 58,016,110 (GRCm39) |
S120P |
probably benign |
Het |
Ntm |
T |
C |
9: 29,020,727 (GRCm39) |
E164G |
probably damaging |
Het |
Or51a7 |
A |
G |
7: 102,615,231 (GRCm39) |
N308S |
probably benign |
Het |
Parp1 |
G |
T |
1: 180,414,894 (GRCm39) |
A411S |
probably benign |
Het |
Pds5b |
A |
G |
5: 150,724,319 (GRCm39) |
T1301A |
probably benign |
Het |
Pkhd1 |
A |
G |
1: 20,128,841 (GRCm39) |
V3954A |
probably benign |
Het |
Pkp4 |
A |
T |
2: 59,180,952 (GRCm39) |
K739I |
probably damaging |
Het |
Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
Ralgds |
T |
C |
2: 28,442,107 (GRCm39) |
L96P |
probably damaging |
Het |
Rbm6 |
A |
T |
9: 107,724,446 (GRCm39) |
|
probably benign |
Het |
Scp2d1 |
T |
C |
2: 144,666,087 (GRCm39) |
L142P |
probably damaging |
Het |
Setd5 |
AT |
ATT |
6: 113,088,281 (GRCm39) |
|
probably benign |
Het |
Sgf29 |
G |
A |
7: 126,270,949 (GRCm39) |
C143Y |
probably damaging |
Het |
Slc22a12 |
A |
G |
19: 6,591,129 (GRCm39) |
I156T |
probably benign |
Het |
Stambpl1 |
A |
G |
19: 34,211,446 (GRCm39) |
Q169R |
probably benign |
Het |
Tex2 |
T |
C |
11: 106,457,832 (GRCm39) |
|
probably benign |
Het |
Trip11 |
A |
T |
12: 101,850,575 (GRCm39) |
I878N |
probably damaging |
Het |
Ttf1 |
C |
T |
2: 28,955,488 (GRCm39) |
S284L |
probably benign |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Ugt2b5 |
A |
T |
5: 87,287,582 (GRCm39) |
V195E |
probably damaging |
Het |
Vmn1r14 |
T |
A |
6: 57,210,808 (GRCm39) |
Y85N |
probably benign |
Het |
Zfp131 |
C |
T |
13: 120,237,554 (GRCm39) |
R268H |
probably damaging |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGAGTTCCAAATTGACCTCGATC -3'
(R):5'- TCTCACTCACAAGGCTGAAC -3'
Sequencing Primer
(F):5'- TCCAAATTGACCTCGATCATCATAG -3'
(R):5'- ACTCCCAGTCAGCTGTGGTG -3'
|
Posted On |
2015-06-24 |