Incidental Mutation 'R6987:Pla2g4e'
| ID |
543013 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pla2g4e
|
| Ensembl Gene |
ENSMUSG00000050211 |
| Gene Name |
phospholipase A2, group IVE |
| Synonyms |
Pla2epsilon, 2310026J01Rik |
| MMRRC Submission |
045094-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6987 (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 120016861 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 227
(A227T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087525
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090071]
|
| AlphaFold |
Q50L42 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090071
AA Change: A227T
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000087525
Gene: ENSMUSG00000050211
AA Change: A227T
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 96.9%
|
| Validation Efficiency |
100% (47/47) |
| 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 |
|---|
| Adam10 |
A |
G |
9: 70,629,978 (GRCm39) |
I137V |
probably benign |
Het |
| Agtr1b |
A |
C |
3: 20,370,585 (GRCm39) |
I7S |
probably benign |
Het |
| Akt2 |
G |
T |
7: 27,332,666 (GRCm39) |
V215L |
probably damaging |
Het |
| Ccdc148 |
C |
A |
2: 58,872,926 (GRCm39) |
L294F |
probably damaging |
Het |
| Ccdc3 |
T |
A |
2: 5,143,115 (GRCm39) |
V124E |
possibly damaging |
Het |
| Cldnd1 |
A |
G |
16: 58,551,734 (GRCm39) |
D121G |
probably benign |
Het |
| Cnr1 |
A |
G |
4: 33,944,739 (GRCm39) |
I376V |
probably benign |
Het |
| Cyp2c40 |
A |
G |
19: 39,801,211 (GRCm39) |
|
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,881,065 (GRCm39) |
I601V |
possibly damaging |
Het |
| Dnhd1 |
C |
A |
7: 105,353,792 (GRCm39) |
H2982N |
probably damaging |
Het |
| Elavl4 |
A |
T |
4: 110,108,602 (GRCm39) |
D55E |
possibly damaging |
Het |
| Enc1 |
T |
C |
13: 97,382,144 (GRCm39) |
I218T |
probably benign |
Het |
| Fbln2 |
T |
A |
6: 91,211,211 (GRCm39) |
V385D |
probably benign |
Het |
| Ffar2 |
A |
G |
7: 30,519,108 (GRCm39) |
V144A |
possibly damaging |
Het |
| Fsip2 |
C |
T |
2: 82,778,630 (GRCm39) |
Q159* |
probably null |
Het |
| Golga4 |
A |
G |
9: 118,387,600 (GRCm39) |
H1574R |
probably benign |
Het |
| Herc2 |
G |
A |
7: 55,756,201 (GRCm39) |
R747H |
possibly damaging |
Het |
| Lama4 |
A |
G |
10: 38,950,275 (GRCm39) |
N985D |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,410,874 (GRCm39) |
N1438S |
probably damaging |
Het |
| Masp1 |
C |
A |
16: 23,332,665 (GRCm39) |
V57F |
probably damaging |
Het |
| Mypn |
T |
C |
10: 63,028,910 (GRCm39) |
E51G |
probably benign |
Het |
| Nos1 |
C |
T |
5: 118,033,850 (GRCm39) |
T324M |
probably benign |
Het |
| Npas3 |
A |
G |
12: 54,115,036 (GRCm39) |
K635E |
possibly damaging |
Het |
| Or5p4 |
C |
A |
7: 107,680,338 (GRCm39) |
C112* |
probably null |
Het |
| Or8b12i |
A |
T |
9: 20,082,130 (GRCm39) |
S246T |
probably benign |
Het |
| Osbp2 |
T |
C |
11: 3,667,958 (GRCm39) |
E13G |
probably damaging |
Het |
| Pira12 |
A |
G |
7: 3,900,660 (GRCm39) |
I30T |
probably damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,852,575 (GRCm39) |
M636T |
probably benign |
Het |
| Prex2 |
C |
A |
1: 11,240,976 (GRCm39) |
A1028E |
probably damaging |
Het |
| Prr14 |
A |
G |
7: 127,072,977 (GRCm39) |
D49G |
possibly damaging |
Het |
| Slc9a9 |
A |
G |
9: 94,552,043 (GRCm39) |
|
probably benign |
Het |
| Sptb |
A |
G |
12: 76,660,021 (GRCm39) |
C960R |
probably benign |
Het |
| Taf15 |
C |
A |
11: 83,375,521 (GRCm39) |
T31K |
possibly damaging |
Het |
| Tdrd9 |
C |
A |
12: 111,992,027 (GRCm39) |
Q601K |
possibly damaging |
Het |
| Tes |
C |
A |
6: 17,086,154 (GRCm39) |
Q16K |
probably benign |
Het |
| Ticam1 |
C |
T |
17: 56,576,900 (GRCm39) |
E732K |
probably benign |
Het |
| Tmem168 |
T |
A |
6: 13,591,476 (GRCm39) |
M63L |
possibly damaging |
Het |
| Trav14-1 |
C |
T |
14: 53,791,916 (GRCm39) |
R89* |
probably null |
Het |
| Trp53bp2 |
A |
T |
1: 182,274,200 (GRCm39) |
Y615F |
probably damaging |
Het |
| Ttc27 |
T |
C |
17: 75,084,736 (GRCm39) |
|
probably null |
Het |
| Usp25 |
T |
A |
16: 76,874,068 (GRCm39) |
V548E |
probably damaging |
Het |
| Vmn1r124 |
A |
T |
7: 20,993,743 (GRCm39) |
I267K |
probably benign |
Het |
| Vmn1r69 |
A |
G |
7: 10,314,491 (GRCm39) |
M1T |
probably null |
Het |
| Zfp729a |
T |
A |
13: 67,768,058 (GRCm39) |
K724* |
probably null |
Het |
| Zfp850 |
A |
T |
7: 27,689,426 (GRCm39) |
C261S |
probably damaging |
Het |
| Zfp882 |
T |
A |
8: 72,668,517 (GRCm39) |
V448E |
probably benign |
Het |
| Zzef1 |
A |
G |
11: 72,746,340 (GRCm39) |
M881V |
possibly 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 |
|
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 |
|
|
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'- TGGATCCCTGGAAGAACAAAC -3'
(R):5'- GTCTACACCAAGCCCAGTAG -3'
Sequencing Primer
(F):5'- GACGTCTGAAGACACGATTTTG -3'
(R):5'- GGTGGCTTGAACTTAGAG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation