Incidental Mutation 'R9730:Plaa'
ID |
736002 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plaa
|
Ensembl Gene |
ENSMUSG00000028577 |
Gene Name |
phospholipase A2, activating protein |
Synonyms |
Ufd3, D4Ertd618e |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.924)
|
Stock # |
R9730 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
94455751-94491481 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 94466660 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 484
(P484S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102724
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107107]
|
AlphaFold |
P27612 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000107107
AA Change: P484S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000102724 Gene: ENSMUSG00000028577 AA Change: P484S
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.6%
|
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 |
Aars2 |
G |
A |
17: 45,829,534 (GRCm39) |
R807Q |
probably benign |
Het |
Alms1 |
G |
A |
6: 85,606,420 (GRCm39) |
R2221Q |
probably benign |
Het |
Alox12 |
C |
T |
11: 70,140,920 (GRCm39) |
A372T |
probably benign |
Het |
Ank2 |
T |
C |
3: 127,019,493 (GRCm39) |
M2V |
|
Het |
Cdon |
A |
G |
9: 35,398,263 (GRCm39) |
I993M |
probably benign |
Het |
Chil5 |
T |
C |
3: 105,926,470 (GRCm39) |
T120A |
possibly damaging |
Het |
Clca4b |
T |
C |
3: 144,632,979 (GRCm39) |
H157R |
probably damaging |
Het |
Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
Cyp39a1 |
A |
G |
17: 43,991,029 (GRCm39) |
N113D |
probably benign |
Het |
Dact3 |
A |
G |
7: 16,609,540 (GRCm39) |
E64G |
possibly damaging |
Het |
Dennd3 |
A |
G |
15: 73,426,959 (GRCm39) |
K779E |
probably damaging |
Het |
Etnppl |
C |
T |
3: 130,415,958 (GRCm39) |
A115V |
probably damaging |
Het |
Exoc6 |
C |
T |
19: 37,588,032 (GRCm39) |
T555I |
probably benign |
Het |
Fbxw11 |
A |
G |
11: 32,688,395 (GRCm39) |
T419A |
probably damaging |
Het |
Hcn4 |
G |
T |
9: 58,731,493 (GRCm39) |
M233I |
unknown |
Het |
Hgfac |
T |
C |
5: 35,204,282 (GRCm39) |
V515A |
probably damaging |
Het |
Hikeshi |
T |
C |
7: 89,569,371 (GRCm39) |
Y150C |
probably benign |
Het |
Igf1r |
A |
G |
7: 67,839,423 (GRCm39) |
Y645C |
probably damaging |
Het |
Iqgap1 |
A |
G |
7: 80,401,124 (GRCm39) |
I521T |
possibly damaging |
Het |
Ldhal6b |
A |
G |
17: 5,468,094 (GRCm39) |
V280A |
possibly damaging |
Het |
Map1s |
C |
T |
8: 71,369,178 (GRCm39) |
A909V |
possibly damaging |
Het |
Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
Or5b106 |
T |
A |
19: 13,123,747 (GRCm39) |
Y92F |
possibly damaging |
Het |
Ppp1r3a |
G |
T |
6: 14,721,923 (GRCm39) |
A301D |
probably benign |
Het |
Prdm2 |
A |
G |
4: 142,858,659 (GRCm39) |
S1544P |
possibly damaging |
Het |
Scara3 |
A |
G |
14: 66,168,261 (GRCm39) |
V452A |
probably damaging |
Het |
Slc12a9 |
T |
A |
5: 137,325,732 (GRCm39) |
D293V |
probably benign |
Het |
Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
Smg1 |
T |
C |
7: 117,783,004 (GRCm39) |
N1101S |
unknown |
Het |
Spocd1 |
A |
G |
4: 129,850,305 (GRCm39) |
|
probably benign |
Het |
Synj1 |
A |
T |
16: 90,757,552 (GRCm39) |
D865E |
probably damaging |
Het |
Trim21 |
T |
C |
7: 102,213,247 (GRCm39) |
D17G |
probably benign |
Het |
Try4 |
A |
T |
6: 41,281,996 (GRCm39) |
D194V |
probably damaging |
Het |
Zfp30 |
A |
G |
7: 29,492,139 (GRCm39) |
E212G |
probably damaging |
Het |
Zfp445 |
A |
C |
9: 122,681,490 (GRCm39) |
I817R |
probably damaging |
Het |
Zfp534 |
A |
T |
4: 147,759,378 (GRCm39) |
H430Q |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCACTGGAGAAAACAATGTTTCTG -3'
(R):5'- CTGAAATTTTAGTTTCTGCGCAGC -3'
Sequencing Primer
(F):5'- CGCCAAAATGTAAAGGCAT -3'
(R):5'- CGCAGCACTAAGACATTTGAC -3'
|
Posted On |
2022-11-14 |