Incidental Mutation 'R4581:Pla2g4e'
| ID |
343647 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pla2g4e
|
| Ensembl Gene |
ENSMUSG00000050211 |
| Gene Name |
phospholipase A2, group IVE |
| Synonyms |
Pla2epsilon, 2310026J01Rik |
| MMRRC Submission |
041802-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4581 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
119996893-120075816 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 120016863 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Proline
at position 226
(H226P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087525
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090071]
|
| AlphaFold |
Q50L42 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090071
AA Change: H226P
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000087525
Gene: ENSMUSG00000050211
AA Change: H226P
| 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
|
| Meta Mutation Damage Score |
0.0985 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
G |
T |
14: 32,383,828 (GRCm39) |
S712R |
possibly damaging |
Het |
| 4933427I04Rik |
A |
G |
4: 123,754,146 (GRCm39) |
D20G |
possibly damaging |
Het |
| Abca7 |
A |
G |
10: 79,842,402 (GRCm39) |
D1112G |
probably benign |
Het |
| Actc1 |
G |
T |
2: 113,880,089 (GRCm39) |
H175N |
possibly damaging |
Het |
| Adgrd1 |
C |
T |
5: 129,279,595 (GRCm39) |
A863V |
possibly damaging |
Het |
| Ankrd17 |
T |
C |
5: 90,430,979 (GRCm39) |
D935G |
possibly damaging |
Het |
| Ankrd7 |
T |
A |
6: 18,868,020 (GRCm39) |
N95K |
probably damaging |
Het |
| Arhgef4 |
G |
A |
1: 34,771,205 (GRCm39) |
E1171K |
possibly damaging |
Het |
| Ascc3 |
T |
C |
10: 50,587,121 (GRCm39) |
I991T |
probably damaging |
Het |
| Cacna1s |
T |
A |
1: 135,998,708 (GRCm39) |
|
probably null |
Het |
| Camk1d |
A |
T |
2: 5,359,515 (GRCm39) |
V177E |
probably benign |
Het |
| Cdh18 |
T |
A |
15: 23,226,869 (GRCm39) |
I110N |
probably damaging |
Het |
| Cenpe |
A |
G |
3: 134,952,761 (GRCm39) |
K1484E |
probably benign |
Het |
| Cep68 |
A |
G |
11: 20,189,333 (GRCm39) |
S560P |
probably benign |
Het |
| Cog3 |
G |
T |
14: 75,970,391 (GRCm39) |
T352K |
probably benign |
Het |
| Cox6a2 |
A |
G |
7: 127,805,152 (GRCm39) |
S44P |
possibly damaging |
Het |
| Cplane1 |
C |
A |
15: 8,201,282 (GRCm39) |
P20T |
possibly damaging |
Het |
| Csmd2 |
T |
C |
4: 128,262,881 (GRCm39) |
V689A |
probably benign |
Het |
| Ddx60 |
A |
T |
8: 62,476,295 (GRCm39) |
M1548L |
possibly damaging |
Het |
| Dennd5b |
G |
T |
6: 148,918,482 (GRCm39) |
|
silent |
Het |
| Dlgap2 |
T |
C |
8: 14,896,679 (GRCm39) |
Y1052H |
probably damaging |
Het |
| Dnaaf5 |
T |
A |
5: 139,170,440 (GRCm39) |
D502E |
probably damaging |
Het |
| Efhb |
C |
A |
17: 53,733,303 (GRCm39) |
A523S |
probably damaging |
Het |
| Epha8 |
C |
T |
4: 136,660,775 (GRCm39) |
V648M |
probably damaging |
Het |
| Fanca |
C |
T |
8: 124,001,077 (GRCm39) |
|
probably null |
Het |
| Fbxw7 |
G |
A |
3: 84,874,852 (GRCm39) |
E205K |
probably benign |
Het |
| Fer1l6 |
C |
T |
15: 58,512,075 (GRCm39) |
T1514I |
probably damaging |
Het |
| Gm12886 |
T |
C |
4: 121,273,880 (GRCm39) |
E112G |
probably damaging |
Het |
| Gm7535 |
T |
C |
17: 18,131,345 (GRCm39) |
|
probably benign |
Het |
| Irf2bp2 |
T |
A |
8: 127,317,994 (GRCm39) |
Q524L |
probably damaging |
Het |
| Itih4 |
A |
G |
14: 30,622,925 (GRCm39) |
D864G |
probably benign |
Het |
| Kdm4c |
T |
G |
4: 74,275,576 (GRCm39) |
|
probably null |
Het |
| Ltn1 |
A |
T |
16: 87,198,912 (GRCm39) |
|
probably null |
Het |
| Mafa |
G |
T |
15: 75,619,585 (GRCm39) |
P63T |
unknown |
Het |
| Mars2 |
T |
A |
1: 55,277,021 (GRCm39) |
L208H |
probably damaging |
Het |
| Myom2 |
A |
G |
8: 15,156,459 (GRCm39) |
I769V |
probably benign |
Het |
| Nyap1 |
A |
G |
5: 137,734,284 (GRCm39) |
S250P |
probably damaging |
Het |
| Or8k35 |
A |
T |
2: 86,424,572 (GRCm39) |
M200K |
probably benign |
Het |
| Osmr |
C |
T |
15: 6,872,375 (GRCm39) |
V240I |
probably benign |
Het |
| Pcdhga3 |
A |
G |
18: 37,809,934 (GRCm39) |
T796A |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,725,519 (GRCm39) |
V1459A |
unknown |
Het |
| Phactr3 |
A |
C |
2: 177,924,965 (GRCm39) |
H300P |
probably damaging |
Het |
| Plcd4 |
T |
A |
1: 74,587,383 (GRCm39) |
W48R |
probably damaging |
Het |
| Prdm16 |
A |
G |
4: 154,407,810 (GRCm39) |
S1140P |
probably damaging |
Het |
| Rarg |
A |
C |
15: 102,160,986 (GRCm39) |
S18A |
possibly damaging |
Het |
| Rfx4 |
T |
A |
10: 84,680,164 (GRCm39) |
S114T |
possibly damaging |
Het |
| Sec14l4 |
G |
A |
11: 3,993,375 (GRCm39) |
|
probably null |
Het |
| Six1 |
T |
G |
12: 73,092,708 (GRCm39) |
T165P |
probably benign |
Het |
| Skint4 |
T |
C |
4: 111,944,239 (GRCm39) |
L17P |
probably damaging |
Het |
| Slc25a23 |
T |
A |
17: 57,359,740 (GRCm39) |
Y337F |
probably damaging |
Het |
| Slc9a3 |
A |
G |
13: 74,312,284 (GRCm39) |
Y627C |
probably damaging |
Het |
| Smu1 |
A |
C |
4: 40,737,401 (GRCm39) |
|
probably null |
Het |
| Spryd3 |
A |
G |
15: 102,038,799 (GRCm39) |
S141P |
probably damaging |
Het |
| Src |
A |
T |
2: 157,304,958 (GRCm39) |
N175I |
probably damaging |
Het |
| Srcap |
GCTCCTCCTCCTCCTCCT |
GCTCCTCCTCCTCCT |
7: 127,157,482 (GRCm39) |
|
probably benign |
Het |
| Stc2 |
A |
G |
11: 31,315,326 (GRCm39) |
|
probably null |
Het |
| Taf6l |
T |
C |
19: 8,755,572 (GRCm39) |
D261G |
probably damaging |
Het |
| Tal1 |
T |
G |
4: 114,921,919 (GRCm39) |
V167G |
probably damaging |
Het |
| Tfec |
G |
A |
6: 16,834,124 (GRCm39) |
T261I |
probably damaging |
Het |
| Tgfb1 |
G |
T |
7: 25,396,655 (GRCm39) |
S273I |
possibly damaging |
Het |
| Tmem8b |
T |
A |
4: 43,685,760 (GRCm39) |
V636E |
probably damaging |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Trappc11 |
A |
T |
8: 47,946,380 (GRCm39) |
M1084K |
probably damaging |
Het |
| Trem3 |
A |
C |
17: 48,556,639 (GRCm39) |
T37P |
possibly damaging |
Het |
| Ttc7b |
G |
A |
12: 100,466,376 (GRCm39) |
R79C |
probably damaging |
Het |
| Urb1 |
T |
C |
16: 90,585,034 (GRCm39) |
D529G |
probably benign |
Het |
| Vmn2r8 |
T |
A |
5: 108,949,570 (GRCm39) |
T426S |
probably benign |
Het |
| Yipf4 |
T |
C |
17: 74,806,089 (GRCm39) |
Y243H |
probably benign |
Het |
| Zfp574 |
T |
A |
7: 24,780,738 (GRCm39) |
C587S |
probably damaging |
Het |
| Zfp93 |
C |
A |
7: 23,975,093 (GRCm39) |
H359Q |
probably damaging |
Het |
| Znfx1 |
T |
C |
2: 166,892,236 (GRCm39) |
E660G |
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 |
|
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'- TTGGATCCCTGGAAGAACAAAC -3'
(R):5'- ATTGTCTACACCAAGCCCAG -3'
Sequencing Primer
(F):5'- GACGTCTGAAGACACGATTTTG -3'
(R):5'- TGAACTTAGAGTCCCAGC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation