Incidental Mutation 'IGL03238:Plaa'
ID |
414159 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Plaa
|
Ensembl Gene |
ENSMUSG00000028577 |
Gene Name |
phospholipase A2, activating protein |
Synonyms |
Ufd3, D4Ertd618e |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.924)
|
Stock # |
IGL03238
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
94455751-94491481 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 94472133 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 326
(T326A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102724
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107107]
|
AlphaFold |
P27612 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000107107
AA Change: T326A
PolyPhen 2
Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000102724 Gene: ENSMUSG00000028577 AA Change: T326A
Domain | Start | End | E-Value | Type |
WD40
|
7 |
47 |
4.46e-1 |
SMART |
WD40
|
54 |
98 |
8.49e-3 |
SMART |
WD40
|
101 |
139 |
1.72e-3 |
SMART |
WD40
|
140 |
179 |
8.81e-10 |
SMART |
WD40
|
180 |
218 |
3.22e-3 |
SMART |
WD40
|
220 |
259 |
7.33e-7 |
SMART |
WD40
|
260 |
298 |
6.79e-2 |
SMART |
Pfam:PFU
|
345 |
459 |
2.3e-43 |
PFAM |
Pfam:PUL
|
535 |
789 |
1.4e-69 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127656
|
SMART Domains |
Protein: ENSMUSP00000116530 Gene: ENSMUSG00000028577
Domain | Start | End | E-Value | Type |
Pfam:PFU
|
1 |
89 |
2.6e-34 |
PFAM |
Pfam:PUL
|
142 |
214 |
7.5e-14 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135696
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136669
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous KO is embryonic lethal. A hypomorphic homozygous point mutation affects neuromuscular junctions and Purkinje cell development, causing early-onset neurodysfunction. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2 |
A |
C |
3: 59,932,339 (GRCm39) |
T285P |
probably benign |
Het |
Abcf1 |
T |
C |
17: 36,274,215 (GRCm39) |
K186E |
probably damaging |
Het |
Adam3 |
T |
C |
8: 25,177,981 (GRCm39) |
|
probably null |
Het |
Art1 |
T |
C |
7: 101,759,956 (GRCm39) |
V85A |
possibly damaging |
Het |
Ccdc110 |
A |
G |
8: 46,394,859 (GRCm39) |
H250R |
probably benign |
Het |
Cyp3a13 |
T |
A |
5: 137,897,151 (GRCm39) |
I388F |
probably damaging |
Het |
Dnah11 |
C |
T |
12: 118,073,633 (GRCm39) |
V1425M |
probably damaging |
Het |
Donson |
G |
A |
16: 91,478,134 (GRCm39) |
Q22* |
probably null |
Het |
Eif2b2 |
A |
G |
12: 85,270,173 (GRCm39) |
T238A |
probably benign |
Het |
Emc2 |
T |
A |
15: 43,371,249 (GRCm39) |
|
probably null |
Het |
Fkbp4 |
A |
T |
6: 128,411,720 (GRCm39) |
V123E |
probably damaging |
Het |
Frem2 |
A |
T |
3: 53,563,682 (GRCm39) |
M275K |
possibly damaging |
Het |
Gcat |
T |
A |
15: 78,920,210 (GRCm39) |
|
probably benign |
Het |
Gemin2 |
G |
A |
12: 59,063,748 (GRCm39) |
|
probably benign |
Het |
Ilf3 |
T |
A |
9: 21,303,646 (GRCm39) |
V169E |
probably damaging |
Het |
Klra17 |
T |
C |
6: 129,845,773 (GRCm39) |
H147R |
probably benign |
Het |
Lama5 |
A |
G |
2: 179,830,367 (GRCm39) |
I1880T |
probably benign |
Het |
Lzts1 |
T |
C |
8: 69,591,446 (GRCm39) |
D234G |
probably damaging |
Het |
Map3k4 |
G |
A |
17: 12,490,045 (GRCm39) |
P462L |
probably benign |
Het |
Marchf6 |
C |
A |
15: 31,462,087 (GRCm39) |
|
probably benign |
Het |
Mcm6 |
A |
T |
1: 128,283,257 (GRCm39) |
F83I |
probably benign |
Het |
Mtpn |
A |
G |
6: 35,499,708 (GRCm39) |
L32P |
probably damaging |
Het |
Mybpc3 |
A |
T |
2: 90,962,004 (GRCm39) |
I841F |
probably damaging |
Het |
Ndst2 |
G |
T |
14: 20,778,572 (GRCm39) |
H399N |
probably damaging |
Het |
Npat |
G |
T |
9: 53,481,726 (GRCm39) |
V1145F |
probably damaging |
Het |
Or51b6 |
G |
A |
7: 103,555,717 (GRCm39) |
A21T |
probably benign |
Het |
P2ry1 |
T |
A |
3: 60,911,916 (GRCm39) |
S352T |
probably damaging |
Het |
Ppdpf |
T |
C |
2: 180,829,673 (GRCm39) |
S43P |
probably benign |
Het |
Prb1b |
T |
A |
6: 132,289,308 (GRCm39) |
Q172L |
unknown |
Het |
Setd1a |
C |
T |
7: 127,384,718 (GRCm39) |
T523I |
possibly damaging |
Het |
Sgcz |
C |
T |
8: 38,030,294 (GRCm39) |
|
probably null |
Het |
Slc12a2 |
T |
C |
18: 58,047,306 (GRCm39) |
Y740H |
possibly damaging |
Het |
Stab2 |
A |
G |
10: 86,690,985 (GRCm39) |
C745R |
probably damaging |
Het |
Tmem101 |
A |
T |
11: 102,046,611 (GRCm39) |
L86Q |
probably damaging |
Het |
Tmtc3 |
A |
C |
10: 100,313,702 (GRCm39) |
F57V |
probably damaging |
Het |
Vps50 |
A |
G |
6: 3,594,771 (GRCm39) |
K778R |
possibly damaging |
Het |
Washc5 |
G |
A |
15: 59,218,691 (GRCm39) |
T692M |
probably damaging |
Het |
Zc3hav1 |
A |
T |
6: 38,309,685 (GRCm39) |
V379D |
probably damaging |
Het |
Zfp142 |
G |
T |
1: 74,615,437 (GRCm39) |
R459S |
probably benign |
Het |
Zfp512b |
A |
G |
2: 181,231,553 (GRCm39) |
V199A |
probably damaging |
Het |
|
Other mutations in Plaa |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00332:Plaa
|
APN |
4 |
94,470,844 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01089:Plaa
|
APN |
4 |
94,462,284 (GRCm39) |
missense |
probably benign |
|
IGL01695:Plaa
|
APN |
4 |
94,462,274 (GRCm39) |
nonsense |
probably null |
|
IGL01984:Plaa
|
APN |
4 |
94,459,922 (GRCm39) |
splice site |
probably null |
|
IGL02430:Plaa
|
APN |
4 |
94,470,810 (GRCm39) |
missense |
probably benign |
0.09 |
IGL02552:Plaa
|
APN |
4 |
94,470,717 (GRCm39) |
critical splice donor site |
probably null |
|
R1353:Plaa
|
UTSW |
4 |
94,459,926 (GRCm39) |
missense |
possibly damaging |
0.69 |
R2937:Plaa
|
UTSW |
4 |
94,457,696 (GRCm39) |
missense |
probably damaging |
1.00 |
R3076:Plaa
|
UTSW |
4 |
94,458,042 (GRCm39) |
missense |
probably benign |
|
R3078:Plaa
|
UTSW |
4 |
94,458,042 (GRCm39) |
missense |
probably benign |
|
R3801:Plaa
|
UTSW |
4 |
94,458,125 (GRCm39) |
missense |
probably damaging |
1.00 |
R3802:Plaa
|
UTSW |
4 |
94,458,125 (GRCm39) |
missense |
probably damaging |
1.00 |
R3804:Plaa
|
UTSW |
4 |
94,458,125 (GRCm39) |
missense |
probably damaging |
1.00 |
R3836:Plaa
|
UTSW |
4 |
94,475,159 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4767:Plaa
|
UTSW |
4 |
94,474,495 (GRCm39) |
unclassified |
probably benign |
|
R4855:Plaa
|
UTSW |
4 |
94,474,645 (GRCm39) |
missense |
probably damaging |
1.00 |
R4978:Plaa
|
UTSW |
4 |
94,478,169 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5284:Plaa
|
UTSW |
4 |
94,457,874 (GRCm39) |
missense |
probably benign |
0.03 |
R5557:Plaa
|
UTSW |
4 |
94,472,244 (GRCm39) |
splice site |
probably null |
|
R5834:Plaa
|
UTSW |
4 |
94,471,706 (GRCm39) |
missense |
probably damaging |
1.00 |
R5856:Plaa
|
UTSW |
4 |
94,471,724 (GRCm39) |
missense |
probably benign |
0.00 |
R6053:Plaa
|
UTSW |
4 |
94,478,121 (GRCm39) |
missense |
probably benign |
0.00 |
R6145:Plaa
|
UTSW |
4 |
94,472,229 (GRCm39) |
missense |
probably damaging |
0.99 |
R6646:Plaa
|
UTSW |
4 |
94,478,215 (GRCm39) |
missense |
probably benign |
|
R7008:Plaa
|
UTSW |
4 |
94,457,586 (GRCm39) |
makesense |
probably null |
|
R7058:Plaa
|
UTSW |
4 |
94,458,060 (GRCm39) |
nonsense |
probably null |
|
R7078:Plaa
|
UTSW |
4 |
94,462,288 (GRCm39) |
missense |
probably benign |
|
R7120:Plaa
|
UTSW |
4 |
94,470,919 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7651:Plaa
|
UTSW |
4 |
94,470,876 (GRCm39) |
missense |
probably damaging |
1.00 |
R8163:Plaa
|
UTSW |
4 |
94,457,640 (GRCm39) |
missense |
probably benign |
0.01 |
R8188:Plaa
|
UTSW |
4 |
94,474,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R8354:Plaa
|
UTSW |
4 |
94,457,714 (GRCm39) |
missense |
probably damaging |
1.00 |
R8454:Plaa
|
UTSW |
4 |
94,457,714 (GRCm39) |
missense |
probably damaging |
1.00 |
R8838:Plaa
|
UTSW |
4 |
94,471,791 (GRCm39) |
missense |
probably benign |
0.37 |
R9457:Plaa
|
UTSW |
4 |
94,475,120 (GRCm39) |
missense |
possibly damaging |
0.65 |
R9730:Plaa
|
UTSW |
4 |
94,466,660 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2016-08-02 |