Incidental Mutation 'IGL00660:Pla2g4a'
ID 13028
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.181) question?
Stock # IGL00660
Quality Score
Status
Chromosome 1
Chromosomal Location 149705369-149837041 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 149761954 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 160 (N160D)
Ref Sequence ENSEMBL: ENSMUSP00000107557 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070200] [ENSMUST00000111926] [ENSMUST00000190507]
AlphaFold P47713
Predicted Effect probably benign
Transcript: ENSMUST00000070200
AA Change: N168D

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000070868
Gene: ENSMUSG00000056220
AA Change: N168D

DomainStartEndE-ValueType
C2 19 121 8.23e-17 SMART
PLAc 117 668 N/A SMART
Blast:PLAc 706 748 3e-10 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000111926
AA Change: N160D

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000107557
Gene: ENSMUSG00000056220
AA Change: N160D

DomainStartEndE-ValueType
C2 11 113 8.23e-17 SMART
PLAc 109 660 N/A SMART
Blast:PLAc 698 740 3e-10 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155438
Predicted Effect probably benign
Transcript: ENSMUST00000190507
AA Change: N130D

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000139851
Gene: ENSMUSG00000056220
AA Change: N130D

DomainStartEndE-ValueType
C2 5 83 7.1e-10 SMART
Blast:PLAc 89 149 5e-32 BLAST
Coding Region Coverage
Validation Efficiency
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: 13 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap3b1 T A 13: 94,527,371 (GRCm39) V67D probably damaging Het
Calml4 A G 9: 62,782,774 (GRCm39) K91R probably benign Het
Cdin1 C T 2: 115,607,466 (GRCm39) A273V possibly damaging Het
Cracd A T 5: 77,002,780 (GRCm39) probably null Het
Dbt T C 3: 116,339,944 (GRCm39) I404T probably damaging Het
Dync2h1 C T 9: 7,075,797 (GRCm39) M3023I probably damaging Het
E130308A19Rik C T 4: 59,737,743 (GRCm39) probably benign Het
Mcm9 A T 10: 53,499,069 (GRCm39) L291Q probably damaging Het
Mettl21e T C 1: 44,245,530 (GRCm39) K239E possibly damaging Het
Prelid3b T C 2: 174,307,598 (GRCm39) probably benign Het
Rab6a T C 7: 100,288,456 (GRCm39) probably benign Het
Slc7a11 T C 3: 50,382,136 (GRCm39) I204V probably benign Het
Zfp93 G T 7: 23,975,117 (GRCm39) K367N probably damaging Het
Other mutations in Pla2g4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R4568:Pla2g4a UTSW 1 149,717,977 (GRCm39) missense probably benign 0.43
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
Posted On 2012-12-06