Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00763:Pla2g4a'

13027

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 #

IGL00763

Quality Score

Status

Chromosome

Chromosomal Location

149705369-149837041 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 149727076 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 568 (D568G)

Ref Sequence

ENSEMBL: ENSMUSP00000070868 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070200] [ENSMUST00000111926]

AlphaFold

P47713

Predicted Effect

probably damaging
Transcript: ENSMUST00000070200
AA Change: D568G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000070868
Gene: ENSMUSG00000056220
AA Change: D568G

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

probably damaging
Transcript: ENSMUST00000111926
AA Change: D560G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107557
Gene: ENSMUSG00000056220
AA Change: D560G

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

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bmp3	A	C	5: 99,020,238 (GRCm39)	R220S	possibly damaging	Het
Bms1	A	G	6: 118,395,363 (GRCm39)		probably benign	Het
Ccdc138	T	A	10: 58,411,537 (GRCm39)	F635Y	probably damaging	Het
Ccdc81	T	C	7: 89,518,823 (GRCm39)		probably benign	Het
Cntnap5a	T	C	1: 116,045,407 (GRCm39)	I341T	possibly damaging	Het
Cog5	C	T	12: 31,715,531 (GRCm39)		probably benign	Het
Dcaf4	G	A	12: 83,586,107 (GRCm39)	R358H	probably damaging	Het
Ddx10	A	C	9: 53,071,326 (GRCm39)		probably benign	Het
Fgf15	T	A	7: 144,453,629 (GRCm39)	F201I	probably damaging	Het
Galp	A	G	7: 6,211,499 (GRCm39)	Y40C	probably damaging	Het
Ints6	A	G	14: 62,938,314 (GRCm39)		probably benign	Het
Iqcb1	A	T	16: 36,676,649 (GRCm39)		probably benign	Het
Kif19a	G	A	11: 114,657,994 (GRCm39)	V18I	probably benign	Het
Lypd8l	T	G	11: 58,503,707 (GRCm39)		probably benign	Het
Morc1	A	C	16: 48,432,689 (GRCm39)	Q719P	probably damaging	Het
Plscr4	A	G	9: 92,366,998 (GRCm39)	E204G	probably null	Het
Rasgrf1	A	G	9: 89,853,073 (GRCm39)	T403A	probably benign	Het
Sec16b	A	G	1: 157,356,827 (GRCm39)	T12A	probably benign	Het
Slc12a7	A	T	13: 73,942,201 (GRCm39)	N359I	possibly damaging	Het
Slc14a2	G	T	18: 78,235,453 (GRCm39)	D241E	probably damaging	Het
Slc23a2	G	T	2: 131,943,420 (GRCm39)	A27E	probably benign	Het
Slc38a8	T	C	8: 120,220,958 (GRCm39)	I200M	probably benign	Het
Thrap3	C	T	4: 126,059,371 (GRCm39)	G892S	probably benign	Het
Tmc6	A	G	11: 117,669,872 (GRCm39)	L20P	probably damaging	Het
Tnfsfm13	T	C	11: 69,575,536 (GRCm39)	D256G	probably benign	Het
Tonsl	C	T	15: 76,518,068 (GRCm39)	A605T	probably damaging	Het
Usp28	A	G	9: 48,939,463 (GRCm39)	T240A	probably benign	Het
Zap70	A	T	1: 36,818,333 (GRCm39)	D340V	possibly damaging	Het
Zfp512b	A	T	2: 181,231,944 (GRCm39)	F100I	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
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