Incidental Mutation 'R3901:Pla2g4e'
ID |
308969 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pla2g4e
|
Ensembl Gene |
ENSMUSG00000050211 |
Gene Name |
phospholipase A2, group IVE |
Synonyms |
Pla2epsilon, 2310026J01Rik |
MMRRC Submission |
040810-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3901 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
119996893-120075816 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 119999085 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 760
(S760G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000087525
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090071]
|
AlphaFold |
Q50L42 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000090071
AA Change: S760G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000087525 Gene: ENSMUSG00000050211 AA Change: S760G
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
98% (39/40) |
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts20 |
T |
A |
15: 94,226,726 (GRCm39) |
D1109V |
possibly damaging |
Het |
Apc2 |
G |
C |
10: 80,150,922 (GRCm39) |
R1992P |
possibly damaging |
Het |
Atmin |
A |
G |
8: 117,683,036 (GRCm39) |
N232S |
probably benign |
Het |
Brat1 |
A |
C |
5: 140,703,751 (GRCm39) |
D668A |
possibly damaging |
Het |
Casp16 |
A |
T |
17: 23,771,922 (GRCm39) |
V101E |
probably damaging |
Het |
Cass4 |
C |
T |
2: 172,274,478 (GRCm39) |
P753L |
probably damaging |
Het |
Cimip3 |
AC |
A |
17: 47,744,348 (GRCm39) |
|
probably benign |
Het |
Clec7a |
A |
G |
6: 129,445,877 (GRCm39) |
S98P |
possibly damaging |
Het |
Cpne5 |
G |
A |
17: 29,378,082 (GRCm39) |
R566C |
unknown |
Het |
Csrnp1 |
C |
T |
9: 119,801,707 (GRCm39) |
E451K |
probably damaging |
Het |
Dlst |
A |
G |
12: 85,179,465 (GRCm39) |
T435A |
possibly damaging |
Het |
Dock8 |
A |
G |
19: 25,078,269 (GRCm39) |
T525A |
possibly damaging |
Het |
Dync2li1 |
A |
G |
17: 84,939,070 (GRCm39) |
T45A |
probably damaging |
Het |
Efcab3 |
A |
G |
11: 104,974,713 (GRCm39) |
N5307S |
possibly damaging |
Het |
Epha4 |
A |
G |
1: 77,357,539 (GRCm39) |
Y820H |
probably damaging |
Het |
F5 |
A |
G |
1: 164,003,798 (GRCm39) |
T198A |
probably benign |
Het |
Fbn2 |
T |
A |
18: 58,199,083 (GRCm39) |
N1395I |
probably damaging |
Het |
Fcnb |
T |
A |
2: 27,969,208 (GRCm39) |
Y163F |
probably damaging |
Het |
Gm5444 |
T |
C |
13: 4,884,278 (GRCm39) |
|
noncoding transcript |
Het |
Jph3 |
G |
T |
8: 122,480,158 (GRCm39) |
D279Y |
possibly damaging |
Het |
Kcnj3 |
A |
G |
2: 55,327,360 (GRCm39) |
N50D |
possibly damaging |
Het |
Kcnma1 |
A |
G |
14: 23,555,323 (GRCm39) |
I416T |
probably damaging |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Kmt2e |
A |
G |
5: 23,706,640 (GRCm39) |
N1401S |
probably benign |
Het |
Lama5 |
C |
T |
2: 179,824,144 (GRCm39) |
|
probably benign |
Het |
Lrp1b |
A |
G |
2: 40,712,707 (GRCm39) |
V3095A |
probably damaging |
Het |
Mmp1a |
A |
G |
9: 7,475,346 (GRCm39) |
*372W |
probably null |
Het |
Or7d11 |
C |
T |
9: 19,966,169 (GRCm39) |
V197I |
probably benign |
Het |
Pdgfra |
T |
A |
5: 75,353,169 (GRCm39) |
N986K |
probably benign |
Het |
Pgap1 |
C |
T |
1: 54,532,507 (GRCm39) |
V671I |
probably benign |
Het |
Plk3 |
T |
C |
4: 116,990,633 (GRCm39) |
I94V |
probably benign |
Het |
Pogk |
C |
T |
1: 166,231,193 (GRCm39) |
V45I |
probably damaging |
Het |
Pou2f1 |
G |
C |
1: 165,722,538 (GRCm39) |
P349R |
probably damaging |
Het |
Rims1 |
T |
A |
1: 22,572,578 (GRCm39) |
Q541L |
probably benign |
Het |
Rptn |
A |
G |
3: 93,305,664 (GRCm39) |
Q999R |
probably benign |
Het |
Stxbp5 |
A |
G |
10: 9,645,163 (GRCm39) |
L911P |
probably damaging |
Het |
Tgfbr3 |
A |
G |
5: 107,362,753 (GRCm39) |
|
probably benign |
Het |
Trim7 |
A |
T |
11: 48,728,435 (GRCm39) |
T28S |
probably damaging |
Het |
Zfp595 |
T |
C |
13: 67,465,379 (GRCm39) |
I295V |
probably benign |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CATCTATGTCCGGTGGGAAC -3'
(R):5'- TCATGGAAGAAGCTCGAGGC -3'
Sequencing Primer
(F):5'- TCCGGTGGGAACTGGACATAG -3'
(R):5'- ACTAGCCTACTGCCTGGG -3'
|
Posted On |
2015-04-17 |