Incidental Mutation 'IGL01695:Plaa'
| ID |
104236 |
| 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 # |
IGL01695
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
94455751-94491481 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 94462274 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 140
(Y140*)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107107]
|
| AlphaFold |
P27612 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000107107
AA Change: Y534*
|
| SMART Domains |
Protein: ENSMUSP00000102724
Gene: ENSMUSG00000028577
AA Change: Y534*
| 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 null
Transcript: ENSMUST00000127656
AA Change: Y140*
|
| SMART Domains |
Protein: ENSMUSP00000116530
Gene: ENSMUSG00000028577
AA Change: Y140*
| 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 |
|---|
| Ap3b2 |
T |
A |
7: 81,126,687 (GRCm39) |
|
probably benign |
Het |
| Arfgef3 |
T |
C |
10: 18,479,167 (GRCm39) |
T1483A |
probably benign |
Het |
| Arl5a |
A |
T |
2: 52,302,117 (GRCm39) |
I99N |
probably damaging |
Het |
| Bahcc1 |
G |
A |
11: 120,167,435 (GRCm39) |
G1279R |
probably benign |
Het |
| Bbs5 |
A |
G |
2: 69,479,434 (GRCm39) |
N43S |
probably damaging |
Het |
| Bltp2 |
T |
C |
11: 78,156,019 (GRCm39) |
V177A |
probably benign |
Het |
| Calhm5 |
A |
G |
10: 33,968,198 (GRCm39) |
V285A |
possibly damaging |
Het |
| Cdh23 |
C |
T |
10: 60,167,612 (GRCm39) |
V1795M |
probably benign |
Het |
| Cep350 |
T |
C |
1: 155,819,904 (GRCm39) |
E353G |
probably damaging |
Het |
| Cps1 |
A |
T |
1: 67,236,194 (GRCm39) |
I976L |
probably benign |
Het |
| Ctdp1 |
A |
T |
18: 80,492,841 (GRCm39) |
S551R |
probably damaging |
Het |
| Cyp2b19 |
C |
T |
7: 26,458,489 (GRCm39) |
T68I |
probably damaging |
Het |
| Efcab3 |
A |
T |
11: 104,626,889 (GRCm39) |
E864D |
probably damaging |
Het |
| Esr2 |
A |
G |
12: 76,192,093 (GRCm39) |
S312P |
probably damaging |
Het |
| Gm6408 |
A |
G |
5: 146,418,939 (GRCm39) |
|
probably benign |
Het |
| Krt9 |
A |
T |
11: 100,082,263 (GRCm39) |
|
probably null |
Het |
| Myh6 |
T |
C |
14: 55,194,870 (GRCm39) |
T662A |
probably benign |
Het |
| Ntn1 |
T |
C |
11: 68,117,430 (GRCm39) |
D473G |
probably benign |
Het |
| Or51a7 |
T |
C |
7: 102,614,790 (GRCm39) |
F161S |
probably damaging |
Het |
| Piezo1 |
A |
T |
8: 123,222,248 (GRCm39) |
C961S |
possibly damaging |
Het |
| Pik3c2a |
T |
C |
7: 116,016,753 (GRCm39) |
T335A |
possibly damaging |
Het |
| Plxnb2 |
T |
C |
15: 89,041,417 (GRCm39) |
I1749V |
possibly damaging |
Het |
| Ppp1r9a |
T |
A |
6: 5,064,003 (GRCm39) |
N555K |
probably damaging |
Het |
| Ptprn2 |
T |
A |
12: 116,805,008 (GRCm39) |
H174Q |
probably benign |
Het |
| Reln |
G |
A |
5: 22,125,436 (GRCm39) |
T2749M |
probably damaging |
Het |
| Scarf1 |
A |
G |
11: 75,412,783 (GRCm39) |
N384S |
probably damaging |
Het |
| Scrt1 |
T |
A |
15: 76,403,150 (GRCm39) |
H280L |
unknown |
Het |
| Serpina1f |
C |
A |
12: 103,659,943 (GRCm39) |
C113F |
probably damaging |
Het |
| Setdb2 |
A |
T |
14: 59,639,742 (GRCm39) |
|
probably benign |
Het |
| Strc |
A |
G |
2: 121,205,779 (GRCm39) |
L830P |
probably damaging |
Het |
| Tifab |
T |
C |
13: 56,324,198 (GRCm39) |
S82G |
probably benign |
Het |
| Tmem217 |
T |
A |
17: 29,745,322 (GRCm39) |
H136L |
probably damaging |
Het |
| Trio |
T |
C |
15: 27,773,087 (GRCm39) |
E715G |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,774,360 (GRCm39) |
M2182K |
probably damaging |
Het |
| Ube2d1 |
T |
C |
10: 71,098,082 (GRCm39) |
D12G |
probably damaging |
Het |
| Utrn |
T |
C |
10: 12,621,086 (GRCm39) |
D195G |
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 |
|
|
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 |
2014-01-21 |
Incidental Mutation