Incidental Mutation 'IGL02430:Plaa'
ID |
293095 |
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: 0.905)
|
Stock # |
IGL02430
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
94455751-94491481 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 94470810 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 442
(M442K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102724
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107107]
|
AlphaFold |
P27612 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000107107
AA Change: M442K
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000102724 Gene: ENSMUSG00000028577 AA Change: M442K
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 |
unknown
Transcript: ENSMUST00000127656
AA Change: M71K
|
SMART Domains |
Protein: ENSMUSP00000116530 Gene: ENSMUSG00000028577 AA Change: M71K
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 |
Arhgap33 |
T |
C |
7: 30,222,185 (GRCm39) |
E1249G |
probably benign |
Het |
C8a |
G |
A |
4: 104,674,719 (GRCm39) |
T540I |
probably damaging |
Het |
Clcnkb |
C |
A |
4: 141,136,701 (GRCm39) |
W388L |
possibly damaging |
Het |
Cnbp |
A |
T |
6: 87,822,160 (GRCm39) |
Y114* |
probably null |
Het |
Col13a1 |
A |
G |
10: 61,710,530 (GRCm39) |
V337A |
probably benign |
Het |
Cyp2e1 |
A |
G |
7: 140,350,139 (GRCm39) |
K275E |
probably damaging |
Het |
Dchs1 |
A |
G |
7: 105,421,178 (GRCm39) |
V414A |
probably benign |
Het |
Ebf1 |
G |
A |
11: 44,815,403 (GRCm39) |
|
probably null |
Het |
Gabbr1 |
C |
T |
17: 37,367,200 (GRCm39) |
R198* |
probably null |
Het |
Gpaa1 |
T |
C |
15: 76,216,388 (GRCm39) |
S36P |
possibly damaging |
Het |
Hipk1 |
A |
G |
3: 103,667,971 (GRCm39) |
V532A |
probably damaging |
Het |
Klhl18 |
A |
T |
9: 110,266,469 (GRCm39) |
C217S |
probably benign |
Het |
Lmntd1 |
T |
A |
6: 145,359,140 (GRCm39) |
T191S |
probably benign |
Het |
Ltbp2 |
T |
A |
12: 84,846,175 (GRCm39) |
Y925F |
probably damaging |
Het |
Lvrn |
A |
G |
18: 47,027,797 (GRCm39) |
I871V |
probably benign |
Het |
Mrgprb1 |
A |
G |
7: 48,097,409 (GRCm39) |
S168P |
possibly damaging |
Het |
Or11g24 |
A |
G |
14: 50,662,608 (GRCm39) |
I211V |
probably benign |
Het |
Or5p70 |
A |
T |
7: 107,994,929 (GRCm39) |
I201F |
probably benign |
Het |
Pcnx1 |
T |
A |
12: 81,966,096 (GRCm39) |
N754K |
possibly damaging |
Het |
Pole3 |
T |
C |
4: 62,443,056 (GRCm39) |
N28S |
possibly damaging |
Het |
Pramel18 |
A |
G |
4: 101,767,477 (GRCm39) |
Y242C |
probably benign |
Het |
Prlr |
A |
G |
15: 10,325,477 (GRCm39) |
K4E |
probably damaging |
Het |
Rp1l1 |
A |
T |
14: 64,266,735 (GRCm39) |
T774S |
probably benign |
Het |
Selp |
C |
A |
1: 163,953,952 (GRCm39) |
P84Q |
probably damaging |
Het |
Sh3bp4 |
T |
A |
1: 89,080,885 (GRCm39) |
W901R |
probably null |
Het |
Slc6a20b |
A |
G |
9: 123,426,305 (GRCm39) |
Y527H |
probably damaging |
Het |
Slit3 |
T |
A |
11: 35,068,601 (GRCm39) |
|
probably null |
Het |
Spidr |
C |
T |
16: 15,932,774 (GRCm39) |
D169N |
probably damaging |
Het |
Sstr2 |
T |
C |
11: 113,515,630 (GRCm39) |
L183P |
probably damaging |
Het |
Tmem62 |
C |
T |
2: 120,817,143 (GRCm39) |
T233I |
probably damaging |
Het |
Uba7 |
A |
G |
9: 107,856,667 (GRCm39) |
|
probably benign |
Het |
Ubc |
A |
T |
5: 125,464,634 (GRCm39) |
I231N |
probably damaging |
Het |
Ubl3 |
A |
T |
5: 148,488,766 (GRCm39) |
D8E |
probably benign |
Het |
Unc5a |
A |
G |
13: 55,150,295 (GRCm39) |
I465M |
probably damaging |
Het |
Vmn2r106 |
A |
G |
17: 20,499,158 (GRCm39) |
I251T |
probably benign |
Het |
Vwa8 |
T |
C |
14: 79,172,085 (GRCm39) |
|
probably null |
Het |
Washc5 |
A |
G |
15: 59,238,140 (GRCm39) |
Y195H |
probably damaging |
Het |
Wdr27 |
A |
C |
17: 15,122,062 (GRCm39) |
S615A |
probably damaging |
Het |
Zfp160 |
T |
A |
17: 21,245,792 (GRCm39) |
L114H |
possibly damaging |
Het |
Zfp523 |
T |
C |
17: 28,414,113 (GRCm39) |
|
probably benign |
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 |
|
IGL02552:Plaa
|
APN |
4 |
94,470,717 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03238:Plaa
|
APN |
4 |
94,472,133 (GRCm39) |
missense |
probably benign |
0.23 |
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 |
2015-04-16 |