Incidental Mutation 'R8838:Plaa'
| ID |
674261 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plaa
|
| Ensembl Gene |
ENSMUSG00000028577 |
| Gene Name |
phospholipase A2, activating protein |
| Synonyms |
Ufd3, D4Ertd618e |
| MMRRC Submission |
068666-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.905)
|
| Stock # |
R8838 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
94455751-94491481 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 94471791 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 353
(T353A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102724
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107107]
|
| AlphaFold |
P27612 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107107
AA Change: T353A
PolyPhen 2
Score 0.367 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000102724
Gene: ENSMUSG00000028577
AA Change: T353A
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (52/52) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
T |
A |
11: 109,920,881 (GRCm39) |
I1498F |
probably damaging |
Het |
| Aco2 |
T |
A |
15: 81,796,128 (GRCm39) |
N508K |
probably damaging |
Het |
| Aff4 |
T |
C |
11: 53,297,465 (GRCm39) |
S896P |
possibly damaging |
Het |
| Anapc2 |
T |
G |
2: 25,163,546 (GRCm39) |
V261G |
probably benign |
Het |
| Atm |
A |
G |
9: 53,427,851 (GRCm39) |
S420P |
probably damaging |
Het |
| Bag6 |
C |
T |
17: 35,363,367 (GRCm39) |
R736C |
probably damaging |
Het |
| Brca2 |
A |
G |
5: 150,465,005 (GRCm39) |
T1590A |
possibly damaging |
Het |
| Cacna2d3 |
C |
T |
14: 28,691,220 (GRCm39) |
C35Y |
probably benign |
Het |
| Cep170b |
G |
A |
12: 112,710,159 (GRCm39) |
R1433H |
probably damaging |
Het |
| Cmtm2a |
A |
G |
8: 105,008,036 (GRCm39) |
C138R |
probably damaging |
Het |
| Cntnap5c |
T |
A |
17: 58,198,964 (GRCm39) |
V86E |
|
Het |
| Cog7 |
A |
G |
7: 121,549,106 (GRCm39) |
I385T |
probably damaging |
Het |
| Col28a1 |
A |
T |
6: 8,091,839 (GRCm39) |
|
probably null |
Het |
| Dkk3 |
T |
C |
7: 111,717,542 (GRCm39) |
E309G |
probably benign |
Het |
| Dnah10 |
T |
C |
5: 124,842,614 (GRCm39) |
V1411A |
probably benign |
Het |
| Enox1 |
G |
T |
14: 77,819,950 (GRCm39) |
R235L |
probably benign |
Het |
| Foxn1 |
T |
C |
11: 78,252,438 (GRCm39) |
N317D |
possibly damaging |
Het |
| Grip2 |
G |
A |
6: 91,762,721 (GRCm39) |
|
probably benign |
Het |
| Hmmr |
T |
C |
11: 40,604,854 (GRCm39) |
T406A |
probably benign |
Het |
| Hpcal1 |
G |
A |
12: 17,836,197 (GRCm39) |
R9H |
probably benign |
Het |
| Iglv3 |
A |
T |
16: 19,060,132 (GRCm39) |
Y65* |
probably null |
Het |
| Itgal |
A |
G |
7: 126,910,433 (GRCm39) |
Y514C |
probably damaging |
Het |
| Kcnk9 |
T |
C |
15: 72,418,019 (GRCm39) |
E37G |
possibly damaging |
Het |
| Klhl40 |
A |
G |
9: 121,609,107 (GRCm39) |
D424G |
probably benign |
Het |
| Lbr |
A |
G |
1: 181,648,294 (GRCm39) |
L389P |
possibly damaging |
Het |
| Ly9 |
A |
G |
1: 171,421,569 (GRCm39) |
Y561H |
probably damaging |
Het |
| Mcoln3 |
T |
C |
3: 145,845,126 (GRCm39) |
F441L |
probably damaging |
Het |
| Muc20 |
G |
T |
16: 32,613,829 (GRCm39) |
T516K |
possibly damaging |
Het |
| Naa35 |
T |
C |
13: 59,775,775 (GRCm39) |
M551T |
probably benign |
Het |
| Nkx6-2 |
T |
A |
7: 139,161,868 (GRCm39) |
T170S |
probably damaging |
Het |
| Nlrp4c |
T |
A |
7: 6,069,337 (GRCm39) |
F413I |
|
Het |
| Or10w1 |
G |
A |
19: 13,632,371 (GRCm39) |
V193M |
probably damaging |
Het |
| Or1s2 |
C |
A |
19: 13,758,381 (GRCm39) |
T133K |
probably benign |
Het |
| Or6c1b |
T |
G |
10: 129,273,065 (GRCm39) |
L128R |
probably damaging |
Het |
| Or8k22 |
T |
C |
2: 86,163,317 (GRCm39) |
K128E |
possibly damaging |
Het |
| Pcdhga10 |
C |
T |
18: 37,881,952 (GRCm39) |
T571I |
possibly damaging |
Het |
| Pla2g4a |
A |
T |
1: 149,747,256 (GRCm39) |
M310K |
probably benign |
Het |
| Rapgef1 |
T |
C |
2: 29,627,458 (GRCm39) |
F1172S |
possibly damaging |
Het |
| Rfx2 |
T |
C |
17: 57,087,877 (GRCm39) |
T505A |
possibly damaging |
Het |
| Rfx4 |
T |
C |
10: 84,676,758 (GRCm39) |
V216A |
probably damaging |
Het |
| Rps6kb2 |
G |
T |
19: 4,211,183 (GRCm39) |
A114D |
probably damaging |
Het |
| Sdc2 |
T |
A |
15: 33,023,897 (GRCm39) |
L92* |
probably null |
Het |
| Slc18b1 |
A |
G |
10: 23,696,764 (GRCm39) |
Y319C |
probably benign |
Het |
| Slc22a15 |
A |
T |
3: 101,790,849 (GRCm39) |
Y219N |
probably damaging |
Het |
| Tarbp1 |
A |
T |
8: 127,177,569 (GRCm39) |
|
probably benign |
Het |
| Tfap2d |
T |
C |
1: 19,175,036 (GRCm39) |
L163P |
possibly damaging |
Het |
| Trank1 |
A |
G |
9: 111,193,973 (GRCm39) |
I666V |
probably benign |
Het |
| Trav14-1 |
G |
T |
14: 53,792,009 (GRCm39) |
A120S |
probably damaging |
Het |
| Trps1 |
T |
A |
15: 50,753,007 (GRCm39) |
N20I |
probably benign |
Het |
| Txndc16 |
A |
G |
14: 45,378,028 (GRCm39) |
Y682H |
probably damaging |
Het |
| Ube4a |
A |
T |
9: 44,837,261 (GRCm39) |
D991E |
probably damaging |
Het |
| Zswim4 |
C |
T |
8: 84,940,699 (GRCm39) |
R800Q |
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 |
|
R9457:Plaa
|
UTSW |
4 |
94,475,120 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9730:Plaa
|
UTSW |
4 |
94,466,660 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTCACATGTAGCTTCCTTCACATAG -3'
(R):5'- ATGTGTTCTGAGTGCCAGGTAC -3'
Sequencing Primer
(F):5'- CAGCAGAGAAAACTTCTAATT -3'
(R):5'- AGGTACTGATACTTGAGGATTAGTCC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation