Incidental Mutation 'R9023:Pla2g4e'
| ID |
686341 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pla2g4e
|
| Ensembl Gene |
ENSMUSG00000050211 |
| Gene Name |
phospholipase A2, group IVE |
| Synonyms |
Pla2epsilon, 2310026J01Rik |
| MMRRC Submission |
068853-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9023 (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 120001718 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 644
(T644A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087525
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090071]
|
| AlphaFold |
Q50L42 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090071
AA Change: T644A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000087525
Gene: ENSMUSG00000050211
AA Change: T644A
| 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: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (66/66) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,636,917 (GRCm39) |
D760G |
possibly damaging |
Het |
| Adamts14 |
C |
T |
10: 61,038,780 (GRCm39) |
S907N |
probably damaging |
Het |
| Adgrf1 |
A |
T |
17: 43,614,651 (GRCm39) |
Y245F |
possibly damaging |
Het |
| Adgrl3 |
C |
T |
5: 81,613,065 (GRCm39) |
A98V |
probably damaging |
Het |
| Afmid |
A |
T |
11: 117,726,349 (GRCm39) |
I186F |
probably damaging |
Het |
| Ago4 |
A |
G |
4: 126,400,596 (GRCm39) |
Y706H |
probably damaging |
Het |
| Appl1 |
A |
T |
14: 26,685,652 (GRCm39) |
S55R |
possibly damaging |
Het |
| Ash1l |
A |
G |
3: 88,892,576 (GRCm39) |
H1485R |
probably damaging |
Het |
| Atp6v0a2 |
C |
T |
5: 124,796,138 (GRCm39) |
T734M |
possibly damaging |
Het |
| B3gat1 |
T |
C |
9: 26,663,069 (GRCm39) |
|
probably benign |
Het |
| Bcl7c |
T |
C |
7: 127,306,504 (GRCm39) |
N96D |
probably benign |
Het |
| Brca2 |
T |
C |
5: 150,465,360 (GRCm39) |
L1708P |
probably benign |
Het |
| Ccl8 |
C |
T |
11: 82,006,873 (GRCm39) |
P29S |
possibly damaging |
Het |
| Clpx |
T |
A |
9: 65,234,115 (GRCm39) |
C587S |
probably null |
Het |
| Coro2b |
T |
C |
9: 62,332,978 (GRCm39) |
D168G |
|
Het |
| Dst |
T |
C |
1: 34,153,105 (GRCm39) |
|
probably null |
Het |
| Eps8l1 |
C |
T |
7: 4,477,042 (GRCm39) |
Q443* |
probably null |
Het |
| Fam131b |
G |
T |
6: 42,298,946 (GRCm39) |
N11K |
possibly damaging |
Het |
| Firrm |
A |
T |
1: 163,818,300 (GRCm39) |
I47N |
possibly damaging |
Het |
| Fry |
T |
C |
5: 150,360,768 (GRCm39) |
V125A |
probably benign |
Het |
| Ftcd |
T |
C |
10: 76,417,413 (GRCm39) |
F284S |
probably damaging |
Het |
| Glg1 |
A |
G |
8: 111,904,380 (GRCm39) |
I617T |
probably damaging |
Het |
| Gm4847 |
C |
T |
1: 166,469,332 (GRCm39) |
V111M |
probably damaging |
Het |
| Hcrtr2 |
C |
T |
9: 76,161,854 (GRCm39) |
V179I |
probably damaging |
Het |
| Herc6 |
A |
G |
6: 57,595,612 (GRCm39) |
N430S |
probably benign |
Het |
| Knl1 |
T |
C |
2: 118,900,761 (GRCm39) |
S821P |
probably benign |
Het |
| Letm2 |
C |
T |
8: 26,077,236 (GRCm39) |
V285I |
|
Het |
| Map3k14 |
T |
C |
11: 103,129,835 (GRCm39) |
T361A |
possibly damaging |
Het |
| Mmp10 |
A |
T |
9: 7,504,913 (GRCm39) |
M236L |
probably damaging |
Het |
| Mmp16 |
A |
G |
4: 17,996,202 (GRCm39) |
K97R |
probably benign |
Het |
| Muc6 |
T |
A |
7: 141,237,432 (GRCm39) |
K194* |
probably null |
Het |
| Myo18a |
A |
G |
11: 77,718,477 (GRCm39) |
Y949C |
probably damaging |
Het |
| Nat8f1 |
A |
G |
6: 85,887,369 (GRCm39) |
L197P |
probably damaging |
Het |
| Nlrp9a |
T |
G |
7: 26,273,291 (GRCm39) |
N976K |
possibly damaging |
Het |
| Or2aa1 |
A |
T |
11: 59,480,367 (GRCm39) |
C183S |
probably damaging |
Het |
| Or56b1 |
C |
T |
7: 104,285,291 (GRCm39) |
R137C |
probably benign |
Het |
| Or8g24 |
T |
C |
9: 38,989,307 (GRCm39) |
I245V |
probably benign |
Het |
| Parp3 |
T |
C |
9: 106,348,490 (GRCm39) |
Y515C |
probably damaging |
Het |
| Pde11a |
C |
G |
2: 75,966,803 (GRCm39) |
A549P |
probably damaging |
Het |
| Pdlim4 |
T |
C |
11: 53,959,662 (GRCm39) |
|
probably benign |
Het |
| Pmm1 |
C |
T |
15: 81,839,896 (GRCm39) |
R143H |
probably damaging |
Het |
| Poglut2 |
T |
C |
1: 44,153,925 (GRCm39) |
I175V |
possibly damaging |
Het |
| Prb1b |
GAGGGGGTCTCTGCTGGGGGCCTCTCTGTGGGGGTGGGCCTTGTTGGTTTCCAGGCT |
G |
6: 132,289,174 (GRCm39) |
|
probably null |
Het |
| Prr7 |
A |
G |
13: 55,620,234 (GRCm39) |
S133G |
possibly damaging |
Het |
| Pten |
C |
A |
19: 32,795,412 (GRCm39) |
D326E |
possibly damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,315,343 (GRCm39) |
L2021* |
probably null |
Het |
| Rassf5 |
T |
C |
1: 131,140,077 (GRCm39) |
I161V |
probably benign |
Het |
| Ric1 |
C |
A |
19: 29,548,143 (GRCm39) |
|
probably benign |
Het |
| Samd9l |
A |
G |
6: 3,373,791 (GRCm39) |
S1157P |
probably damaging |
Het |
| Serpinb1a |
A |
G |
13: 33,029,763 (GRCm39) |
V153A |
probably damaging |
Het |
| Shank1 |
T |
C |
7: 43,968,531 (GRCm39) |
Y275H |
unknown |
Het |
| Slc6a18 |
C |
T |
13: 73,823,889 (GRCm39) |
G84R |
probably damaging |
Het |
| Smarcc2 |
A |
G |
10: 128,301,093 (GRCm39) |
E187G |
probably damaging |
Het |
| Stxbp4 |
A |
G |
11: 90,426,249 (GRCm39) |
S520P |
unknown |
Het |
| Taar8b |
C |
T |
10: 23,967,205 (GRCm39) |
E330K |
probably benign |
Het |
| Tdpoz6 |
A |
G |
3: 93,599,742 (GRCm39) |
F209S |
probably damaging |
Het |
| Tex14 |
T |
A |
11: 87,365,239 (GRCm39) |
V61D |
|
Het |
| Tg |
T |
C |
15: 66,555,522 (GRCm39) |
F738S |
probably damaging |
Het |
| Trpc4 |
T |
C |
3: 54,102,254 (GRCm39) |
S51P |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,626,231 (GRCm39) |
S14975G |
probably benign |
Het |
| Usp15 |
C |
T |
10: 122,961,498 (GRCm39) |
G685R |
possibly damaging |
Het |
| Usp17lc |
C |
T |
7: 103,067,539 (GRCm39) |
P278L |
possibly damaging |
Het |
| Wasf1 |
T |
C |
10: 40,810,571 (GRCm39) |
V271A |
possibly damaging |
Het |
| Zbtb46 |
C |
T |
2: 181,065,935 (GRCm39) |
V72I |
possibly damaging |
Het |
| Zfp462 |
A |
G |
4: 55,007,563 (GRCm39) |
M1V |
probably null |
Het |
| Zfp648 |
T |
C |
1: 154,080,914 (GRCm39) |
F358L |
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 |
|
R9003:Pla2g4e
|
UTSW |
2 |
120,007,282 (GRCm39) |
missense |
probably benign |
0.03 |
|
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'- CTATGGCCACATCCATGCTTG -3'
(R):5'- AAACTTCTGGGCTCGCCATC -3'
Sequencing Primer
(F):5'- GCCACATCCATGCTTGCTTTTC -3'
(R):5'- CGGGGCCTTCCTACCTTC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation