Incidental Mutation 'R4414:Pla2g4e'
| ID |
328047 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pla2g4e
|
| Ensembl Gene |
ENSMUSG00000050211 |
| Gene Name |
phospholipase A2, group IVE |
| Synonyms |
Pla2epsilon, 2310026J01Rik |
| MMRRC Submission |
041694-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4414 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
119996893-120075816 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 120013194 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 375
(H375Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087525
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090071]
|
| AlphaFold |
Q50L42 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090071
AA Change: H375Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000087525
Gene: ENSMUSG00000050211
AA Change: H375Q
| 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: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (50/50) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503E14Rik |
T |
A |
14: 44,406,690 (GRCm39) |
M120L |
probably benign |
Het |
| Aco2 |
A |
G |
15: 81,773,584 (GRCm39) |
|
probably null |
Het |
| Acss1 |
A |
G |
2: 150,501,823 (GRCm39) |
S115P |
possibly damaging |
Het |
| Ank2 |
A |
T |
3: 127,019,411 (GRCm39) |
|
probably null |
Het |
| AU041133 |
C |
T |
10: 81,987,316 (GRCm39) |
T323M |
probably damaging |
Het |
| Bdp1 |
T |
C |
13: 100,167,369 (GRCm39) |
D2215G |
probably damaging |
Het |
| Bod1l |
G |
A |
5: 41,977,870 (GRCm39) |
T1148I |
probably benign |
Het |
| Celsr1 |
C |
T |
15: 85,847,334 (GRCm39) |
V1468I |
probably benign |
Het |
| Celsr1 |
A |
G |
15: 85,812,200 (GRCm39) |
V2065A |
probably damaging |
Het |
| Cep89 |
A |
G |
7: 35,115,822 (GRCm39) |
|
probably benign |
Het |
| Cfap58 |
A |
G |
19: 47,941,480 (GRCm39) |
K283E |
possibly damaging |
Het |
| Cog5 |
C |
T |
12: 31,710,853 (GRCm39) |
Q78* |
probably null |
Het |
| Col20a1 |
C |
T |
2: 180,643,043 (GRCm39) |
R796C |
possibly damaging |
Het |
| Dnah7b |
A |
T |
1: 46,165,840 (GRCm39) |
T502S |
probably benign |
Het |
| Dnm1l |
A |
G |
16: 16,160,559 (GRCm39) |
|
probably null |
Het |
| Dse |
A |
T |
10: 34,028,632 (GRCm39) |
F819L |
probably benign |
Het |
| Eloa |
G |
T |
4: 135,738,553 (GRCm39) |
L136I |
possibly damaging |
Het |
| Eloa |
T |
A |
4: 135,738,576 (GRCm39) |
H128L |
probably benign |
Het |
| Fbxl6 |
T |
C |
15: 76,421,924 (GRCm39) |
E205G |
possibly damaging |
Het |
| Golim4 |
T |
G |
3: 75,802,347 (GRCm39) |
N287T |
probably benign |
Het |
| Gpx8 |
T |
A |
13: 113,179,682 (GRCm39) |
K206N |
possibly damaging |
Het |
| Iqgap3 |
G |
T |
3: 88,004,293 (GRCm39) |
V460F |
probably benign |
Het |
| Kcne4 |
A |
T |
1: 78,795,651 (GRCm39) |
M100L |
probably benign |
Het |
| Kmt2a |
A |
T |
9: 44,721,077 (GRCm39) |
|
probably benign |
Het |
| Ktn1 |
G |
A |
14: 47,962,387 (GRCm39) |
W1117* |
probably null |
Het |
| Lad1 |
A |
G |
1: 135,756,484 (GRCm39) |
D364G |
probably benign |
Het |
| Lmln |
T |
G |
16: 32,930,220 (GRCm39) |
I559S |
probably benign |
Het |
| Mapk4 |
A |
T |
18: 74,063,609 (GRCm39) |
F538I |
possibly damaging |
Het |
| Mlxipl |
A |
G |
5: 135,166,253 (GRCm39) |
|
probably benign |
Het |
| Mmrn1 |
T |
C |
6: 60,921,570 (GRCm39) |
L9P |
probably damaging |
Het |
| Mnat1 |
G |
A |
12: 73,228,601 (GRCm39) |
R155H |
probably damaging |
Het |
| Mtmr11 |
T |
C |
3: 96,075,207 (GRCm39) |
|
probably benign |
Het |
| Naaladl1 |
T |
C |
19: 6,165,581 (GRCm39) |
L745P |
probably damaging |
Het |
| Obsl1 |
A |
T |
1: 75,467,546 (GRCm39) |
D1409E |
probably benign |
Het |
| Oit3 |
T |
C |
10: 59,263,925 (GRCm39) |
Y403C |
probably damaging |
Het |
| Prodh2 |
G |
A |
7: 30,205,877 (GRCm39) |
V238M |
probably damaging |
Het |
| Rdh14 |
G |
A |
12: 10,441,231 (GRCm39) |
|
probably null |
Het |
| Rho |
G |
A |
6: 115,912,191 (GRCm39) |
V76I |
probably benign |
Het |
| Rock1 |
A |
T |
18: 10,080,514 (GRCm39) |
M1010K |
probably damaging |
Het |
| Ros1 |
A |
G |
10: 52,038,800 (GRCm39) |
|
probably null |
Het |
| Sim1 |
A |
T |
10: 50,857,708 (GRCm39) |
D486V |
probably benign |
Het |
| Spmip6 |
T |
C |
4: 41,505,574 (GRCm39) |
T183A |
possibly damaging |
Het |
| Src |
A |
G |
2: 157,306,573 (GRCm39) |
D192G |
probably damaging |
Het |
| Stox1 |
T |
C |
10: 62,495,348 (GRCm39) |
N975S |
probably benign |
Het |
| Tmem145 |
A |
G |
7: 25,006,554 (GRCm39) |
Y54C |
probably damaging |
Het |
| Try4 |
C |
T |
6: 41,281,905 (GRCm39) |
P164S |
possibly damaging |
Het |
| Vegfc |
A |
T |
8: 54,634,130 (GRCm39) |
N270Y |
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 |
|
|
R3901:Pla2g4e
|
UTSW |
2 |
119,999,085 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4342:Pla2g4e
|
UTSW |
2 |
120,016,927 (GRCm39) |
intron |
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'- GCATGCATTTGTTGGCAAGAG -3'
(R):5'- TGCTGATTAAAGGTGAGCTACGAC -3'
Sequencing Primer
(F):5'- TGAATCACATGTCTCAGGGC -3'
(R):5'- AGCTACGACTAAAGGGTGTCCC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation