Incidental Mutation 'R6300:Pla2g4e'
| ID |
509012 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pla2g4e
|
| Ensembl Gene |
ENSMUSG00000050211 |
| Gene Name |
phospholipase A2, group IVE |
| Synonyms |
Pla2epsilon, 2310026J01Rik |
| MMRRC Submission |
044409-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6300 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
119996893-120075816 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 120013219 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 367
(M367K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087525
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090071]
|
| AlphaFold |
Q50L42 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090071
AA Change: M367K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000087525
Gene: ENSMUSG00000050211
AA Change: M367K
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
99% (72/73) |
| 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 |
|---|
| 4930433I11Rik |
A |
G |
7: 40,642,885 (GRCm39) |
T185A |
possibly damaging |
Het |
| 4932414N04Rik |
A |
G |
2: 68,561,453 (GRCm39) |
Y260C |
possibly damaging |
Het |
| Adamtsl1 |
G |
A |
4: 86,166,254 (GRCm39) |
G395S |
probably damaging |
Het |
| Amn |
T |
C |
12: 111,240,623 (GRCm39) |
L85P |
probably benign |
Het |
| Ankdd1a |
C |
T |
9: 65,415,343 (GRCm39) |
A227T |
possibly damaging |
Het |
| Ap1s3 |
T |
C |
1: 79,602,840 (GRCm39) |
K56E |
probably damaging |
Het |
| Apeh |
G |
A |
9: 107,969,878 (GRCm39) |
H186Y |
probably damaging |
Het |
| Apip |
C |
T |
2: 102,917,498 (GRCm39) |
R66C |
possibly damaging |
Het |
| Apob |
C |
T |
12: 8,057,769 (GRCm39) |
R2084* |
probably null |
Het |
| Apol6 |
A |
T |
15: 76,935,471 (GRCm39) |
I247L |
probably benign |
Het |
| Arfgap2 |
A |
G |
2: 91,097,540 (GRCm39) |
Q112R |
probably benign |
Het |
| Armh1 |
A |
G |
4: 117,088,979 (GRCm39) |
Y139H |
probably damaging |
Het |
| Bag6 |
T |
C |
17: 35,357,577 (GRCm39) |
V122A |
probably damaging |
Het |
| Bmal2 |
A |
G |
6: 146,723,444 (GRCm39) |
Y258C |
probably damaging |
Het |
| Cacna1e |
T |
A |
1: 154,301,678 (GRCm39) |
T1685S |
probably benign |
Het |
| Cct2 |
C |
T |
10: 116,892,064 (GRCm39) |
G328D |
probably damaging |
Het |
| Cd163 |
T |
A |
6: 124,294,950 (GRCm39) |
C671* |
probably null |
Het |
| Cers5 |
G |
T |
15: 99,670,100 (GRCm39) |
A54E |
probably damaging |
Het |
| Ctdp1 |
T |
A |
18: 80,502,455 (GRCm39) |
M152L |
probably benign |
Het |
| Cul3 |
A |
G |
1: 80,264,669 (GRCm39) |
V211A |
probably damaging |
Het |
| Defb36 |
T |
A |
2: 152,454,418 (GRCm39) |
W26R |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 117,925,136 (GRCm39) |
E3899G |
probably damaging |
Het |
| Dnah6 |
A |
T |
6: 73,042,798 (GRCm39) |
I3208N |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,365,046 (GRCm39) |
F3609S |
probably damaging |
Het |
| Duox1 |
T |
G |
2: 122,168,181 (GRCm39) |
L1102R |
probably damaging |
Het |
| Dzip3 |
A |
G |
16: 48,772,170 (GRCm39) |
S500P |
probably damaging |
Het |
| Endod1 |
T |
C |
9: 14,268,166 (GRCm39) |
T440A |
probably benign |
Het |
| Exph5 |
A |
G |
9: 53,285,246 (GRCm39) |
T776A |
possibly damaging |
Het |
| Gabrg2 |
T |
C |
11: 41,891,350 (GRCm39) |
|
probably null |
Het |
| Hoxd3 |
A |
G |
2: 74,574,420 (GRCm39) |
Y22C |
probably damaging |
Het |
| Hspe1 |
T |
A |
1: 55,129,860 (GRCm39) |
|
probably null |
Het |
| Il6ra |
A |
G |
3: 89,794,436 (GRCm39) |
V175A |
probably damaging |
Het |
| Kat6a |
A |
G |
8: 23,429,628 (GRCm39) |
Q1661R |
unknown |
Het |
| Klhl18 |
T |
A |
9: 110,265,130 (GRCm39) |
N362I |
probably benign |
Het |
| Marchf10 |
T |
C |
11: 105,273,063 (GRCm39) |
E692G |
probably damaging |
Het |
| Mars1 |
G |
A |
10: 127,132,429 (GRCm39) |
T856M |
probably benign |
Het |
| Mef2b |
C |
T |
8: 70,619,769 (GRCm39) |
T285I |
possibly damaging |
Het |
| Mmrn2 |
T |
C |
14: 34,119,614 (GRCm39) |
S198P |
probably benign |
Het |
| Nek5 |
T |
A |
8: 22,597,737 (GRCm39) |
M281L |
probably benign |
Het |
| Or2y15 |
T |
A |
11: 49,351,039 (GRCm39) |
C178S |
probably damaging |
Het |
| Or52e19 |
A |
T |
7: 102,959,636 (GRCm39) |
H236L |
probably benign |
Het |
| Or52e7 |
G |
A |
7: 104,684,878 (GRCm39) |
V158M |
probably benign |
Het |
| Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
| Pcdhgb5 |
T |
A |
18: 37,865,752 (GRCm39) |
F516I |
probably damaging |
Het |
| Pds5b |
T |
A |
5: 150,646,713 (GRCm39) |
N167K |
possibly damaging |
Het |
| Pepd |
G |
A |
7: 34,668,968 (GRCm39) |
R196H |
probably damaging |
Het |
| Prdm4 |
A |
G |
10: 85,746,085 (GRCm39) |
|
probably null |
Het |
| Reln |
A |
G |
5: 22,101,839 (GRCm39) |
Y3364H |
probably damaging |
Het |
| Rufy4 |
T |
A |
1: 74,172,383 (GRCm39) |
S369T |
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,695,885 (GRCm39) |
H2994L |
probably damaging |
Het |
| Safb2 |
T |
C |
17: 56,870,226 (GRCm39) |
H950R |
possibly damaging |
Het |
| Serpina3k |
A |
T |
12: 104,306,981 (GRCm39) |
N71I |
probably damaging |
Het |
| Sez6 |
T |
C |
11: 77,867,367 (GRCm39) |
V788A |
possibly damaging |
Het |
| Sfrp4 |
G |
A |
13: 19,808,023 (GRCm39) |
A141T |
probably damaging |
Het |
| Skor1 |
A |
T |
9: 63,052,596 (GRCm39) |
W458R |
probably damaging |
Het |
| Slc13a2 |
CGTTATCTGT |
CGT |
11: 78,294,306 (GRCm39) |
|
probably benign |
Het |
| Slc19a2 |
C |
T |
1: 164,084,344 (GRCm39) |
T78M |
probably damaging |
Het |
| Slc8a3 |
T |
A |
12: 81,361,752 (GRCm39) |
I356F |
probably damaging |
Het |
| Smc4 |
T |
C |
3: 68,935,224 (GRCm39) |
V771A |
probably benign |
Het |
| Snapc4 |
A |
G |
2: 26,268,563 (GRCm39) |
S33P |
probably benign |
Het |
| Tcte1 |
T |
C |
17: 45,844,215 (GRCm39) |
S64P |
possibly damaging |
Het |
| Thsd7a |
G |
T |
6: 12,471,103 (GRCm39) |
S505* |
probably null |
Het |
| Tjp3 |
T |
A |
10: 81,116,951 (GRCm39) |
R193* |
probably null |
Het |
| Tm7sf2 |
A |
T |
19: 6,117,230 (GRCm39) |
W58R |
probably damaging |
Het |
| Top3a |
T |
C |
11: 60,640,234 (GRCm39) |
D488G |
probably benign |
Het |
| Ttc21a |
T |
C |
9: 119,790,905 (GRCm39) |
S884P |
possibly damaging |
Het |
| Usp17lb |
A |
G |
7: 104,489,898 (GRCm39) |
L342P |
probably damaging |
Het |
| Utrn |
T |
A |
10: 12,377,220 (GRCm39) |
Y2612F |
probably benign |
Het |
| Vwa3a |
A |
G |
7: 120,381,623 (GRCm39) |
N3S |
probably damaging |
Het |
| Zfp382 |
G |
A |
7: 29,831,054 (GRCm39) |
|
probably null |
Het |
| Zfp672 |
A |
T |
11: 58,208,094 (GRCm39) |
C76S |
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 |
|
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'- TTCTGGCACCAGGACCTTAG -3'
(R):5'- AGAGTAGATGCCCAAGGTCAC -3'
Sequencing Primer
(F):5'- ACCAGGACCTTAGCAGTTGG -3'
(R):5'- TGCCCAAGGTCACAGAAGATATATG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation