Incidental Mutation 'R9003:Pla2g4e'
| ID |
685071 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pla2g4e
|
| Ensembl Gene |
ENSMUSG00000050211 |
| Gene Name |
phospholipase A2, group IVE |
| Synonyms |
Pla2epsilon, 2310026J01Rik |
| MMRRC Submission |
068833-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9003 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
119996893-120075816 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 120007282 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 472
(Q472L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087525
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090071]
|
| AlphaFold |
Q50L42 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090071
AA Change: Q472L
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000087525
Gene: ENSMUSG00000050211
AA Change: Q472L
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (57/57) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
G |
A |
12: 118,850,013 (GRCm39) |
H917Y |
possibly damaging |
Het |
| Acot4 |
A |
G |
12: 84,089,969 (GRCm39) |
K222R |
possibly damaging |
Het |
| Akap12 |
A |
G |
10: 4,306,744 (GRCm39) |
S1290G |
probably benign |
Het |
| Arid1a |
T |
C |
4: 133,411,799 (GRCm39) |
I1311V |
unknown |
Het |
| Asf1b |
G |
T |
8: 84,682,530 (GRCm39) |
E25* |
probably null |
Het |
| Atp10a |
T |
A |
7: 58,457,203 (GRCm39) |
W901R |
probably damaging |
Het |
| Aurkc |
T |
A |
7: 6,999,547 (GRCm39) |
I18N |
probably damaging |
Het |
| Carmil2 |
A |
G |
8: 106,423,905 (GRCm39) |
T1253A |
probably damaging |
Het |
| Ccdc146 |
T |
C |
5: 21,508,132 (GRCm39) |
T639A |
possibly damaging |
Het |
| Cdca4 |
A |
G |
12: 112,785,659 (GRCm39) |
V23A |
probably benign |
Het |
| Chpt1 |
A |
G |
10: 88,312,943 (GRCm39) |
F290L |
probably damaging |
Het |
| Clca3b |
C |
T |
3: 144,533,072 (GRCm39) |
W653* |
probably null |
Het |
| Coa8 |
A |
G |
12: 111,688,189 (GRCm39) |
*45W |
probably null |
Het |
| Cpb2 |
A |
T |
14: 75,479,868 (GRCm39) |
|
probably benign |
Het |
| Cul9 |
A |
G |
17: 46,836,001 (GRCm39) |
V1215A |
possibly damaging |
Het |
| Cxxc4 |
A |
T |
3: 133,945,431 (GRCm39) |
N4I |
unknown |
Het |
| Eps8l1 |
G |
T |
7: 4,464,016 (GRCm39) |
V47F |
possibly damaging |
Het |
| Exoc6 |
T |
C |
19: 37,587,097 (GRCm39) |
I537T |
probably damaging |
Het |
| Fbn2 |
T |
C |
18: 58,176,591 (GRCm39) |
Y2040C |
probably damaging |
Het |
| Gfm2 |
T |
G |
13: 97,282,889 (GRCm39) |
|
probably benign |
Het |
| Jak2 |
A |
T |
19: 29,254,240 (GRCm39) |
M187L |
probably benign |
Het |
| Kif5b |
A |
G |
18: 6,224,047 (GRCm39) |
V247A |
probably benign |
Het |
| Klhl22 |
T |
C |
16: 17,589,612 (GRCm39) |
V91A |
probably damaging |
Het |
| Ldhd |
T |
C |
8: 112,356,894 (GRCm39) |
S17G |
probably benign |
Het |
| Madd |
C |
A |
2: 90,988,359 (GRCm39) |
E1223* |
probably null |
Het |
| Mecom |
T |
C |
3: 30,034,639 (GRCm39) |
I346V |
probably benign |
Het |
| Mthfd1 |
C |
T |
12: 76,350,754 (GRCm39) |
T712M |
probably benign |
Het |
| Nek4 |
C |
T |
14: 30,704,471 (GRCm39) |
T662M |
probably benign |
Het |
| Or10g3b |
T |
A |
14: 52,586,768 (GRCm39) |
H245L |
probably damaging |
Het |
| Or2y1b |
C |
T |
11: 49,209,155 (GRCm39) |
P261S |
possibly damaging |
Het |
| Or4c117 |
T |
A |
2: 88,956,024 (GRCm39) |
Q17L |
possibly damaging |
Het |
| Or4k42 |
A |
G |
2: 111,320,411 (GRCm39) |
F31L |
probably benign |
Het |
| Or5ac19 |
A |
T |
16: 59,089,263 (GRCm39) |
F256I |
probably benign |
Het |
| Or8c18 |
C |
T |
9: 38,203,343 (GRCm39) |
T34I |
probably benign |
Het |
| Phc3 |
G |
A |
3: 31,020,007 (GRCm39) |
T19I |
possibly damaging |
Het |
| Plcg2 |
C |
T |
8: 118,342,002 (GRCm39) |
T1121I |
|
Het |
| Plin2 |
T |
C |
4: 86,580,324 (GRCm39) |
T146A |
probably benign |
Het |
| Pum1 |
T |
G |
4: 130,474,393 (GRCm39) |
S488A |
probably benign |
Het |
| Robo1 |
A |
G |
16: 72,539,002 (GRCm39) |
|
probably benign |
Het |
| Rsbn1 |
T |
C |
3: 103,822,188 (GRCm39) |
L102P |
probably damaging |
Het |
| Sbno2 |
A |
T |
10: 79,896,049 (GRCm39) |
V939E |
probably damaging |
Het |
| Scarf1 |
A |
T |
11: 75,406,069 (GRCm39) |
T118S |
possibly damaging |
Het |
| Sdcbp2 |
G |
A |
2: 151,429,113 (GRCm39) |
V171M |
probably benign |
Het |
| Sh3pxd2b |
T |
C |
11: 32,361,571 (GRCm39) |
I261T |
probably damaging |
Het |
| Slc4a9 |
A |
G |
18: 36,673,787 (GRCm39) |
|
probably null |
Het |
| Smpdl3a |
A |
G |
10: 57,683,977 (GRCm39) |
Y245C |
probably damaging |
Het |
| Stk39 |
T |
C |
2: 68,222,462 (GRCm39) |
I201V |
probably damaging |
Het |
| Timm44 |
A |
G |
8: 4,324,204 (GRCm39) |
L25P |
possibly damaging |
Het |
| Tinf2 |
T |
C |
14: 55,917,859 (GRCm39) |
H210R |
probably benign |
Het |
| Tmem168 |
A |
T |
6: 13,591,446 (GRCm39) |
Y457N |
probably benign |
Het |
| Topbp1 |
T |
C |
9: 103,200,727 (GRCm39) |
S587P |
probably benign |
Het |
| Tpp1 |
T |
A |
7: 105,398,156 (GRCm39) |
I336F |
probably benign |
Het |
| Ttc28 |
G |
A |
5: 111,424,896 (GRCm39) |
V1574I |
probably benign |
Het |
| Tut4 |
A |
G |
4: 108,400,029 (GRCm39) |
K1277E |
probably damaging |
Het |
| Vmn2r52 |
A |
T |
7: 9,905,181 (GRCm39) |
D219E |
probably benign |
Het |
| Zbtb40 |
G |
T |
4: 136,745,904 (GRCm39) |
A43E |
probably damaging |
Het |
| Zfp970 |
G |
A |
2: 177,167,010 (GRCm39) |
A195T |
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 |
|
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 |
|
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'- ACACCCCATGATTCTTCCAG -3'
(R):5'- ACCAGGTCTAGGGTCATCTGTG -3'
Sequencing Primer
(F):5'- CATGATTCTTCCAGCATGATGG -3'
(R):5'- GCTTGTCTCTCACCAGGACTATGG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation