Incidental Mutation 'R3802:Plaa'
| ID |
274345 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plaa
|
| Ensembl Gene |
ENSMUSG00000028577 |
| Gene Name |
phospholipase A2, activating protein |
| Synonyms |
Ufd3, D4Ertd618e |
| MMRRC Submission |
040761-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.924)
|
| Stock # |
R3802 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
94455751-94491481 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 94458125 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 615
(D615G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102724
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107107]
|
| AlphaFold |
P27612 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107107
AA Change: D615G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102724
Gene: ENSMUSG00000028577
AA Change: D615G
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129748
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135696
|
| Meta Mutation Damage Score |
0.9633 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
100% (47/47) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AAdacl4fm3 |
A |
T |
4: 144,430,074 (GRCm39) |
L305Q |
possibly damaging |
Het |
| Abcc2 |
C |
A |
19: 43,810,065 (GRCm39) |
N874K |
probably benign |
Het |
| Axl |
A |
T |
7: 25,487,902 (GRCm39) |
M1K |
probably null |
Het |
| Btaf1 |
A |
T |
19: 36,963,948 (GRCm39) |
T840S |
probably benign |
Het |
| Btaf1 |
A |
T |
19: 36,966,373 (GRCm39) |
H1047L |
probably benign |
Het |
| Capn13 |
G |
A |
17: 73,646,396 (GRCm39) |
P339L |
probably benign |
Het |
| Ccdc39 |
A |
T |
3: 33,874,044 (GRCm39) |
M596K |
probably damaging |
Het |
| Cfap20dc |
G |
T |
14: 8,510,931 (GRCm38) |
D494E |
probably benign |
Het |
| Cfap58 |
G |
T |
19: 47,941,498 (GRCm39) |
D289Y |
possibly damaging |
Het |
| Cnn2 |
A |
G |
10: 79,829,329 (GRCm39) |
D153G |
probably benign |
Het |
| Cstdc2 |
T |
C |
2: 148,692,616 (GRCm39) |
H62R |
probably benign |
Het |
| Cubn |
T |
C |
2: 13,365,164 (GRCm39) |
I1625V |
probably benign |
Het |
| Gprc5b |
C |
T |
7: 118,582,943 (GRCm39) |
D309N |
possibly damaging |
Het |
| Grm8 |
T |
G |
6: 28,125,635 (GRCm39) |
N164H |
possibly damaging |
Het |
| Gstm3 |
G |
A |
3: 107,871,551 (GRCm39) |
T210I |
probably benign |
Het |
| Hhipl1 |
A |
G |
12: 108,278,566 (GRCm39) |
E298G |
probably benign |
Het |
| Hivep2 |
A |
G |
10: 14,024,705 (GRCm39) |
D2173G |
possibly damaging |
Het |
| Hsd17b8 |
A |
T |
17: 34,245,441 (GRCm39) |
V231E |
probably damaging |
Het |
| Jarid2 |
T |
A |
13: 45,056,307 (GRCm39) |
N365K |
probably benign |
Het |
| Kank4 |
A |
G |
4: 98,668,370 (GRCm39) |
S26P |
probably damaging |
Het |
| Kpnb1 |
A |
T |
11: 97,056,955 (GRCm39) |
V638E |
possibly damaging |
Het |
| Lipo3 |
C |
T |
19: 33,762,257 (GRCm39) |
C80Y |
probably damaging |
Het |
| Mga |
T |
A |
2: 119,777,820 (GRCm39) |
N1788K |
probably damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Mtmr10 |
A |
G |
7: 63,970,376 (GRCm39) |
Y373C |
probably benign |
Het |
| Ncoa6 |
C |
T |
2: 155,247,484 (GRCm39) |
G1940D |
probably benign |
Het |
| Nelfe |
T |
A |
17: 35,072,877 (GRCm39) |
F166L |
possibly damaging |
Het |
| Nfatc3 |
A |
G |
8: 106,806,277 (GRCm39) |
Y374C |
probably damaging |
Het |
| Nhlrc3 |
A |
G |
3: 53,366,052 (GRCm39) |
V147A |
possibly damaging |
Het |
| Or51f1d |
A |
G |
7: 102,701,372 (GRCm39) |
Y289C |
probably benign |
Het |
| Or8g33 |
G |
A |
9: 39,337,582 (GRCm39) |
P262S |
probably damaging |
Het |
| Pak3 |
G |
A |
X: 142,492,727 (GRCm39) |
V87I |
probably damaging |
Het |
| Papolg |
A |
T |
11: 23,826,449 (GRCm39) |
I235N |
probably damaging |
Het |
| Pdgfrl |
T |
C |
8: 41,438,594 (GRCm39) |
S177P |
probably damaging |
Het |
| Phf8 |
T |
C |
X: 150,355,572 (GRCm39) |
S512P |
possibly damaging |
Het |
| Prpf4b |
T |
C |
13: 35,067,665 (GRCm39) |
|
probably benign |
Het |
| Sgk1 |
T |
C |
10: 21,873,311 (GRCm39) |
V259A |
probably damaging |
Het |
| Skint4 |
G |
T |
4: 111,975,378 (GRCm39) |
V113L |
probably damaging |
Het |
| Smco1 |
A |
G |
16: 32,092,716 (GRCm39) |
Y129C |
probably benign |
Het |
| Tas2r106 |
C |
A |
6: 131,655,329 (GRCm39) |
S174I |
probably benign |
Het |
| Tektl1 |
A |
C |
10: 78,584,314 (GRCm39) |
F367C |
probably damaging |
Het |
| Tsn |
A |
T |
1: 118,233,026 (GRCm39) |
F93I |
probably damaging |
Het |
| Vav2 |
T |
C |
2: 27,157,235 (GRCm39) |
|
probably benign |
Het |
| Vmn2r63 |
A |
T |
7: 42,552,829 (GRCm39) |
M809K |
probably damaging |
Het |
| Zfp260 |
G |
A |
7: 29,804,504 (GRCm39) |
E135K |
probably benign |
Het |
| Zfp808 |
T |
A |
13: 62,319,897 (GRCm39) |
H375Q |
probably damaging |
Het |
| Zkscan2 |
A |
T |
7: 123,094,365 (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 |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTTTGTCCTGCCTGACTAAC -3'
(R):5'- GCCTCAGTTTTGAAATGTATAGCA -3'
Sequencing Primer
(F):5'- TTGTCCTGCCTGACTAACAAAGC -3'
(R):5'- CCACATCTTGAGGGCCAGTATTTAG -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation