Incidental Mutation 'IGL01089:Plaa'
| ID |
50879 |
| 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 # |
IGL01089
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
94455751-94491481 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 94462284 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 531
(V531A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102724
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107107]
|
| AlphaFold |
P27612 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107107
AA Change: V531A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000102724
Gene: ENSMUSG00000028577
AA Change: V531A
| 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: V137A
|
| SMART Domains |
Protein: ENSMUSP00000116530
Gene: ENSMUSG00000028577
AA Change: V137A
| 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: ENSMUST00000129748
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135696
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
T |
C |
14: 29,710,292 (GRCm39) |
L353S |
probably damaging |
Het |
| Adgrf2 |
G |
A |
17: 43,021,049 (GRCm39) |
P592S |
probably damaging |
Het |
| Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
| Afap1l2 |
A |
C |
19: 56,901,843 (GRCm39) |
|
probably null |
Het |
| Asnsd1 |
G |
A |
1: 53,387,436 (GRCm39) |
P64S |
probably damaging |
Het |
| Bmt2 |
A |
G |
6: 13,663,270 (GRCm39) |
M76T |
probably damaging |
Het |
| Clca3b |
A |
T |
3: 144,529,283 (GRCm39) |
V797D |
probably benign |
Het |
| Cog2 |
T |
C |
8: 125,271,982 (GRCm39) |
S499P |
probably benign |
Het |
| Cyp27a1 |
A |
T |
1: 74,771,097 (GRCm39) |
Y94F |
possibly damaging |
Het |
| D630045J12Rik |
A |
G |
6: 38,113,898 (GRCm39) |
S1765P |
probably benign |
Het |
| Fam149a |
A |
G |
8: 45,801,564 (GRCm39) |
L519P |
possibly damaging |
Het |
| Fam171a2 |
G |
A |
11: 102,328,674 (GRCm39) |
A695V |
possibly damaging |
Het |
| Fat1 |
T |
A |
8: 45,470,894 (GRCm39) |
V1566E |
probably damaging |
Het |
| Flvcr1 |
T |
G |
1: 190,745,587 (GRCm39) |
N361H |
probably damaging |
Het |
| Gm1110 |
T |
C |
9: 26,793,156 (GRCm39) |
N540S |
probably benign |
Het |
| Katnip |
A |
G |
7: 125,394,485 (GRCm39) |
E187G |
probably damaging |
Het |
| Kcns3 |
T |
A |
12: 11,141,572 (GRCm39) |
T376S |
possibly damaging |
Het |
| Krt32 |
A |
G |
11: 99,978,605 (GRCm39) |
S150P |
probably benign |
Het |
| Liat1 |
A |
G |
11: 75,894,163 (GRCm39) |
E180G |
possibly damaging |
Het |
| Lrtm2 |
C |
T |
6: 119,297,753 (GRCm39) |
R96Q |
possibly damaging |
Het |
| Mctp1 |
A |
G |
13: 77,168,917 (GRCm39) |
E838G |
probably damaging |
Het |
| Mios |
T |
C |
6: 8,234,363 (GRCm39) |
|
probably null |
Het |
| Or1j10 |
A |
T |
2: 36,267,178 (GRCm39) |
Y130F |
probably damaging |
Het |
| Phldb1 |
T |
A |
9: 44,619,184 (GRCm39) |
K167* |
probably null |
Het |
| Pkhd1l1 |
A |
G |
15: 44,347,265 (GRCm39) |
|
probably benign |
Het |
| Psmb2 |
A |
G |
4: 126,577,999 (GRCm39) |
Y59C |
probably damaging |
Het |
| Ptprg |
A |
G |
14: 12,215,286 (GRCm38) |
H1091R |
probably damaging |
Het |
| Rbm44 |
T |
A |
1: 91,096,419 (GRCm39) |
V926D |
possibly damaging |
Het |
| Rgma |
G |
T |
7: 73,059,462 (GRCm39) |
V189L |
possibly damaging |
Het |
| Sbf2 |
A |
T |
7: 109,948,169 (GRCm39) |
I1227K |
probably damaging |
Het |
| Slc8a1 |
T |
C |
17: 81,955,710 (GRCm39) |
T443A |
probably damaging |
Het |
| Slc8a1 |
A |
G |
17: 81,696,310 (GRCm39) |
V896A |
probably damaging |
Het |
| Taf2 |
T |
C |
15: 54,879,977 (GRCm39) |
M1120V |
probably benign |
Het |
| Ugt2b34 |
C |
T |
5: 87,054,185 (GRCm39) |
V199I |
probably benign |
Het |
| Unc5c |
C |
A |
3: 141,523,963 (GRCm39) |
|
probably benign |
Het |
| Usp37 |
G |
A |
1: 74,532,205 (GRCm39) |
R63* |
probably null |
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 |
|
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 |
|
|
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 |
2013-06-21 |
Incidental Mutation