Incidental Mutation 'R4568:Pla2g4a'
| ID |
341935 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pla2g4a
|
| Ensembl Gene |
ENSMUSG00000056220 |
| Gene Name |
phospholipase A2, group IVA (cytosolic, calcium-dependent) |
| Synonyms |
cytosolic phospholipase A2, cytosolic PLA2, Type IV PLA2, Pla2g4, cPLA2, cPLA2alpha |
| MMRRC Submission |
041792-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.181)
|
| Stock # |
R4568 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
149705369-149837041 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 149717977 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 624
(D624G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107557
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070200]
[ENSMUST00000111926]
|
| AlphaFold |
P47713 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070200
AA Change: D632G
PolyPhen 2
Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000070868
Gene: ENSMUSG00000056220
AA Change: D632G
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
19 |
121 |
8.23e-17 |
SMART |
|
PLAc
|
117 |
668 |
N/A |
SMART |
|
Blast:PLAc
|
706 |
748 |
3e-10 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000104328
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111926
AA Change: D624G
PolyPhen 2
Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000107557
Gene: ENSMUSG00000056220
AA Change: D624G
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
11 |
113 |
8.23e-17 |
SMART |
|
PLAc
|
109 |
660 |
N/A |
SMART |
|
Blast:PLAc
|
698 |
740 |
3e-10 |
BLAST |
|
| Meta Mutation Damage Score |
0.0923 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
100% (36/36) |
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is a member of the phospholipase A2 group IV family. This enzyme hydrolyzes membrane phospholipids, thereby releasing the polyunsaturated fatty acid, arachidonic acid. Arachidonic acid is further metabolized into eicosanoids such as leukotrienes, thromboxanes and prostaglandins, that play important roles in regulating diverse biological processes such as inflammatory responses, membrane and actin dynamics, and tumorigenesis. A rise in intracellular calcium levels results in binding of calcium to the C2 domain of this protein, and triggers the translocation from the cytosol to intracellular membranes, including the Golgi apparatus. Disruption of this gene in mice led to decreased levels of eicosonaoids and platelet-activating factor, decreased allergic symptoms, and impaired reproductive ability in females. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]
PHENOTYPE: Mice homozygouse for disruptions in this gene display reduced allergic and autoimmune reactions. They also display an increased incidence of insulin and reduced female reproductive performance. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm2 |
T |
A |
7: 119,162,740 (GRCm39) |
W5R |
probably benign |
Het |
| Bik |
T |
C |
15: 83,425,645 (GRCm39) |
|
probably null |
Het |
| Col6a1 |
A |
T |
10: 76,555,031 (GRCm39) |
|
probably benign |
Het |
| Crem |
A |
G |
18: 3,299,175 (GRCm39) |
I83T |
probably damaging |
Het |
| Csn1s1 |
G |
A |
5: 87,828,763 (GRCm39) |
V276I |
possibly damaging |
Het |
| Ctnna3 |
C |
T |
10: 63,688,588 (GRCm39) |
T344M |
possibly damaging |
Het |
| Dgcr8 |
G |
A |
16: 18,098,258 (GRCm39) |
P378S |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Gpr139 |
C |
T |
7: 118,744,028 (GRCm39) |
V186M |
probably damaging |
Het |
| Krba1 |
A |
G |
6: 48,386,657 (GRCm39) |
T422A |
probably damaging |
Het |
| Lgals8 |
T |
G |
13: 12,468,254 (GRCm39) |
Y125S |
probably damaging |
Het |
| Map4k1 |
G |
A |
7: 28,686,079 (GRCm39) |
G107D |
probably damaging |
Het |
| Mfsd6 |
A |
T |
1: 52,702,448 (GRCm39) |
Y599* |
probably null |
Het |
| Omt2b |
T |
A |
9: 78,235,529 (GRCm39) |
|
probably benign |
Het |
| Or1d2 |
A |
G |
11: 74,256,035 (GRCm39) |
E180G |
probably damaging |
Het |
| Or9s15 |
A |
T |
1: 92,525,113 (GRCm39) |
M291L |
probably benign |
Het |
| Pga5 |
A |
G |
19: 10,649,216 (GRCm39) |
Y235H |
probably damaging |
Het |
| Phldb2 |
T |
A |
16: 45,598,081 (GRCm39) |
K869* |
probably null |
Het |
| Pik3cb |
T |
C |
9: 98,972,355 (GRCm39) |
M268V |
probably benign |
Het |
| Plxna4 |
T |
A |
6: 32,129,873 (GRCm39) |
I1817F |
probably damaging |
Het |
| Psmg3 |
A |
G |
5: 139,812,004 (GRCm39) |
I32T |
probably damaging |
Het |
| Ptpn4 |
T |
C |
1: 119,607,789 (GRCm39) |
E757G |
probably damaging |
Het |
| Rasl2-9 |
AGG |
A |
7: 5,128,374 (GRCm39) |
|
probably null |
Het |
| Ripply3 |
T |
A |
16: 94,136,688 (GRCm39) |
D116E |
probably damaging |
Het |
| Robo4 |
T |
C |
9: 37,316,118 (GRCm39) |
V263A |
possibly damaging |
Het |
| Slc5a9 |
C |
A |
4: 111,748,941 (GRCm39) |
|
probably null |
Het |
| Spef2 |
T |
C |
15: 9,647,303 (GRCm39) |
H1008R |
probably damaging |
Het |
| Stag1 |
T |
C |
9: 100,730,722 (GRCm39) |
V379A |
probably damaging |
Het |
| Tasor |
A |
T |
14: 27,198,658 (GRCm39) |
|
probably null |
Het |
| Tbc1d9 |
A |
G |
8: 83,997,806 (GRCm39) |
E1121G |
probably benign |
Het |
| Tpr |
T |
C |
1: 150,268,710 (GRCm39) |
|
probably benign |
Het |
| Trpv6 |
G |
T |
6: 41,603,503 (GRCm39) |
P206H |
probably damaging |
Het |
| Vmn2r63 |
T |
C |
7: 42,583,250 (GRCm39) |
|
probably null |
Het |
| Vmn2r65 |
C |
T |
7: 84,596,677 (GRCm39) |
C126Y |
probably damaging |
Het |
|
| Other mutations in Pla2g4a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00660:Pla2g4a
|
APN |
1 |
149,761,954 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL00763:Pla2g4a
|
APN |
1 |
149,727,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01548:Pla2g4a
|
APN |
1 |
149,808,407 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01683:Pla2g4a
|
APN |
1 |
149,733,405 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01903:Pla2g4a
|
APN |
1 |
149,716,370 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL02049:Pla2g4a
|
APN |
1 |
149,736,847 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02103:Pla2g4a
|
APN |
1 |
149,776,950 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03132:Pla2g4a
|
APN |
1 |
149,778,035 (GRCm39) |
splice site |
probably benign |
|
|
IGL03299:Pla2g4a
|
APN |
1 |
149,727,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03302:Pla2g4a
|
APN |
1 |
149,740,698 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0110:Pla2g4a
|
UTSW |
1 |
149,716,398 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0469:Pla2g4a
|
UTSW |
1 |
149,716,398 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0488:Pla2g4a
|
UTSW |
1 |
149,747,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0606:Pla2g4a
|
UTSW |
1 |
149,716,455 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1468:Pla2g4a
|
UTSW |
1 |
149,763,344 (GRCm39) |
splice site |
probably benign |
|
|
R1470:Pla2g4a
|
UTSW |
1 |
149,716,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1470:Pla2g4a
|
UTSW |
1 |
149,716,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1521:Pla2g4a
|
UTSW |
1 |
149,733,437 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1718:Pla2g4a
|
UTSW |
1 |
149,747,274 (GRCm39) |
splice site |
probably benign |
|
|
R1778:Pla2g4a
|
UTSW |
1 |
149,778,196 (GRCm39) |
splice site |
probably benign |
|
|
R1967:Pla2g4a
|
UTSW |
1 |
149,797,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2063:Pla2g4a
|
UTSW |
1 |
149,716,427 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2291:Pla2g4a
|
UTSW |
1 |
149,776,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3855:Pla2g4a
|
UTSW |
1 |
149,705,928 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4512:Pla2g4a
|
UTSW |
1 |
149,736,802 (GRCm39) |
splice site |
probably null |
|
|
R5266:Pla2g4a
|
UTSW |
1 |
149,740,918 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5855:Pla2g4a
|
UTSW |
1 |
149,755,814 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5897:Pla2g4a
|
UTSW |
1 |
149,740,899 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6012:Pla2g4a
|
UTSW |
1 |
149,808,428 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6193:Pla2g4a
|
UTSW |
1 |
149,778,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6246:Pla2g4a
|
UTSW |
1 |
149,748,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6248:Pla2g4a
|
UTSW |
1 |
149,748,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6258:Pla2g4a
|
UTSW |
1 |
149,733,238 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6260:Pla2g4a
|
UTSW |
1 |
149,733,238 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6293:Pla2g4a
|
UTSW |
1 |
149,755,798 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6310:Pla2g4a
|
UTSW |
1 |
149,717,977 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6490:Pla2g4a
|
UTSW |
1 |
149,727,086 (GRCm39) |
nonsense |
probably null |
|
|
R6502:Pla2g4a
|
UTSW |
1 |
149,748,367 (GRCm39) |
nonsense |
probably null |
|
|
R6614:Pla2g4a
|
UTSW |
1 |
149,717,986 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6671:Pla2g4a
|
UTSW |
1 |
149,763,382 (GRCm39) |
missense |
probably benign |
|
|
R6745:Pla2g4a
|
UTSW |
1 |
149,761,981 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6880:Pla2g4a
|
UTSW |
1 |
149,727,202 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7058:Pla2g4a
|
UTSW |
1 |
149,727,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7163:Pla2g4a
|
UTSW |
1 |
149,716,416 (GRCm39) |
nonsense |
probably null |
|
|
R7422:Pla2g4a
|
UTSW |
1 |
149,808,438 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7454:Pla2g4a
|
UTSW |
1 |
149,748,441 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7474:Pla2g4a
|
UTSW |
1 |
149,740,951 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7514:Pla2g4a
|
UTSW |
1 |
149,727,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7536:Pla2g4a
|
UTSW |
1 |
149,755,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7682:Pla2g4a
|
UTSW |
1 |
149,762,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7744:Pla2g4a
|
UTSW |
1 |
149,736,853 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7766:Pla2g4a
|
UTSW |
1 |
149,736,809 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7783:Pla2g4a
|
UTSW |
1 |
149,748,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8031:Pla2g4a
|
UTSW |
1 |
149,776,964 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8145:Pla2g4a
|
UTSW |
1 |
149,716,394 (GRCm39) |
missense |
probably benign |
0.42 |
|
R8189:Pla2g4a
|
UTSW |
1 |
149,733,337 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8252:Pla2g4a
|
UTSW |
1 |
149,727,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8315:Pla2g4a
|
UTSW |
1 |
149,761,965 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8762:Pla2g4a
|
UTSW |
1 |
149,761,935 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8783:Pla2g4a
|
UTSW |
1 |
149,740,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8838:Pla2g4a
|
UTSW |
1 |
149,747,256 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9132:Pla2g4a
|
UTSW |
1 |
149,747,230 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9282:Pla2g4a
|
UTSW |
1 |
149,747,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9412:Pla2g4a
|
UTSW |
1 |
149,755,772 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0021:Pla2g4a
|
UTSW |
1 |
149,740,677 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
Z1177:Pla2g4a
|
UTSW |
1 |
149,747,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACTGCTGTTTGTCATGGTAAG -3'
(R):5'- CTGCTGGCAGAAAATGGATG -3'
Sequencing Primer
(F):5'- TCATGGTAAGAGGCGCATTCC -3'
(R):5'- GAATGAATGAAGACTGGACATTTCTC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation