Incidental Mutation 'R6711:Pla2g4e'
| ID |
529114 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pla2g4e
|
| Ensembl Gene |
ENSMUSG00000050211 |
| Gene Name |
phospholipase A2, group IVE |
| Synonyms |
Pla2epsilon, 2310026J01Rik |
| MMRRC Submission |
044829-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6711 (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 C
at 120001751 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 633
(N633D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087525
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090071]
|
| AlphaFold |
Q50L42 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090071
AA Change: N633D
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000087525
Gene: ENSMUSG00000050211
AA Change: N633D
| 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 |
0.0964 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c21 |
A |
G |
13: 4,627,374 (GRCm39) |
D156G |
probably damaging |
Het |
| Ankrd35 |
C |
T |
3: 96,590,784 (GRCm39) |
Q357* |
probably null |
Het |
| Ano2 |
G |
A |
6: 125,752,795 (GRCm39) |
A191T |
probably damaging |
Het |
| Cacna2d1 |
C |
T |
5: 16,505,039 (GRCm39) |
T331I |
probably damaging |
Het |
| Ccdc81 |
T |
G |
7: 89,537,006 (GRCm39) |
E214A |
probably damaging |
Het |
| Cdh4 |
A |
G |
2: 179,532,724 (GRCm39) |
T729A |
probably damaging |
Het |
| Ceacam2 |
A |
G |
7: 25,238,295 (GRCm39) |
L43P |
probably benign |
Het |
| Ces2h |
A |
T |
8: 105,744,715 (GRCm39) |
R364S |
probably benign |
Het |
| Dcpp3 |
AGGCCATGCTGGCC |
AGGCC |
17: 24,136,572 (GRCm39) |
|
probably benign |
Het |
| Entrep1 |
T |
C |
19: 23,955,463 (GRCm39) |
N385S |
probably benign |
Het |
| Epb42 |
T |
A |
2: 120,854,589 (GRCm39) |
|
probably benign |
Het |
| Fcgbp |
G |
A |
7: 27,789,098 (GRCm39) |
V555M |
probably damaging |
Het |
| Ganc |
A |
T |
2: 120,281,320 (GRCm39) |
H723L |
possibly damaging |
Het |
| Gfra2 |
A |
G |
14: 71,203,715 (GRCm39) |
D31G |
probably damaging |
Het |
| Glrb |
A |
G |
3: 80,752,281 (GRCm39) |
I443T |
probably benign |
Het |
| Hcfc1 |
A |
T |
X: 72,993,671 (GRCm39) |
C1165S |
probably damaging |
Homo |
| Hoxd10 |
A |
G |
2: 74,524,507 (GRCm39) |
Y273C |
probably damaging |
Het |
| Iba57 |
T |
C |
11: 59,049,369 (GRCm39) |
T267A |
probably damaging |
Het |
| Impg2 |
C |
A |
16: 56,085,449 (GRCm39) |
P943H |
probably damaging |
Het |
| Kidins220 |
A |
G |
12: 25,048,750 (GRCm39) |
T145A |
probably damaging |
Het |
| Lmntd1 |
T |
C |
6: 145,489,228 (GRCm39) |
Y11C |
probably benign |
Het |
| Lyst |
A |
T |
13: 13,809,820 (GRCm39) |
T497S |
possibly damaging |
Het |
| Man1a |
G |
A |
10: 53,809,588 (GRCm39) |
H406Y |
probably benign |
Het |
| Mme |
A |
T |
3: 63,249,339 (GRCm39) |
K289N |
possibly damaging |
Het |
| Mrps21 |
G |
A |
3: 95,777,895 (GRCm39) |
|
probably benign |
Het |
| Mtor |
A |
G |
4: 148,536,824 (GRCm39) |
N33D |
possibly damaging |
Het |
| Ncoa1 |
C |
A |
12: 4,372,904 (GRCm39) |
A166S |
probably benign |
Het |
| Ndrg2 |
A |
T |
14: 52,147,782 (GRCm39) |
F112I |
possibly damaging |
Het |
| Neb |
A |
C |
2: 52,113,076 (GRCm39) |
F36C |
probably benign |
Het |
| Neb |
A |
G |
2: 52,146,299 (GRCm39) |
Y2893H |
probably damaging |
Het |
| Or8g22 |
A |
G |
9: 38,958,162 (GRCm39) |
*229Q |
probably null |
Het |
| Pcdh15 |
A |
T |
10: 74,478,219 (GRCm39) |
E231D |
possibly damaging |
Het |
| Pih1d2 |
T |
A |
9: 50,529,310 (GRCm39) |
M1K |
probably null |
Het |
| Rph3al |
C |
A |
11: 75,799,810 (GRCm39) |
G50* |
probably null |
Het |
| Rtcb |
A |
T |
10: 85,774,963 (GRCm39) |
N477K |
possibly damaging |
Het |
| Scn10a |
A |
G |
9: 119,438,979 (GRCm39) |
F1630S |
probably damaging |
Het |
| Srfbp1 |
T |
C |
18: 52,621,373 (GRCm39) |
S145P |
probably damaging |
Het |
| St7 |
A |
G |
6: 17,848,069 (GRCm39) |
E211G |
possibly damaging |
Het |
| Thbs2 |
T |
C |
17: 14,910,527 (GRCm39) |
D24G |
probably benign |
Het |
| Tlr6 |
C |
A |
5: 65,111,835 (GRCm39) |
M357I |
probably damaging |
Het |
| Tmem168 |
T |
C |
6: 13,603,120 (GRCm39) |
Y82C |
probably damaging |
Het |
| Tnrc18 |
A |
T |
5: 142,773,545 (GRCm39) |
L245Q |
unknown |
Het |
| Vmn1r8 |
T |
C |
6: 57,013,444 (GRCm39) |
L165P |
probably damaging |
Het |
| Vps13b |
A |
G |
15: 35,887,395 (GRCm39) |
Y3268C |
probably damaging |
Het |
| Zdhhc7 |
A |
G |
8: 120,810,066 (GRCm39) |
I218T |
probably benign |
Het |
| Zfp213 |
A |
G |
17: 23,778,485 (GRCm39) |
F209S |
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 |
|
|
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 |
|
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'- AGGTTGTGGTACCTTTCCAC -3'
(R):5'- AAGCCTAGGGAATCTGTGAGC -3'
Sequencing Primer
(F):5'- TGGTACCTTTCCACATAGAGAACTGC -3'
(R):5'- ACCAAACTTCTGGGCTCG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation