Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01548:Pla2g4a'

93238

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pla2g4a

Ensembl Gene

ENSMUSG00000056220

Gene Name

phospholipase A2, group IVA (cytosolic, calcium-dependent)

Synonyms

Type IV PLA2, cytosolic phospholipase A2, Pla2g4, cytosolic PLA2, cPLA2alpha, cPLA2

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.329) question?

Stock #

IGL01548

Quality Score

Status

Chromosome

Chromosomal Location

149829618-149961290 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 149932656 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139851 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070200] [ENSMUST00000190507]

AlphaFold

P47713

Predicted Effect

probably null
Transcript: ENSMUST00000070200

SMART Domains

Protein: ENSMUSP00000070868
Gene: ENSMUSG00000056220

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: ENSMUST00000134676

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142040

Predicted Effect

probably null
Transcript: ENSMUST00000190507

SMART Domains

Protein: ENSMUSP00000139851
Gene: ENSMUSG00000056220

Domain	Start	End	E-Value	Type
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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	T	C	2: 130,814,259	N110D	probably damaging	Het
Acot3	C	T	12: 84,057,089	T224I	probably benign	Het
Adamts18	C	T	8: 113,764,299	G512E	probably damaging	Het
Atp4b	A	G	8: 13,389,679	I181T	probably damaging	Het
Bcl11a	A	G	11: 24,163,346	I230V	probably benign	Het
Cenpj	C	A	14: 56,532,319	V1138L	probably benign	Het
Cep78	A	G	19: 15,981,200		probably benign	Het
Clec2j	T	A	6: 128,655,978		noncoding transcript	Het
Col5a3	T	C	9: 20,803,000		probably benign	Het
Cpne6	A	T	14: 55,512,726	T105S	probably damaging	Het
Csmd1	A	T	8: 16,288,646	Y482*	probably null	Het
Ctrl	C	A	8: 105,933,258		probably benign	Het
Dhcr24	T	A	4: 106,573,871	C252*	probably null	Het
Dnah17	G	A	11: 118,098,612	P1261S	probably benign	Het
Dnaic2	T	C	11: 114,752,942	L466P	probably damaging	Het
Dync2h1	A	T	9: 7,071,922	F3036Y	probably damaging	Het
Eef1akmt2	A	C	7: 132,831,405	S191A	probably damaging	Het
Fam205c	T	C	4: 42,868,564	E353G	probably benign	Het
Fat4	G	A	3: 39,009,257	C4454Y	probably damaging	Het
Fat4	T	C	3: 38,887,758	S267P	probably damaging	Het
Frrs1	T	C	3: 116,885,185	C219R	probably damaging	Het
Gabra6	T	A	11: 42,317,023	Q207L	probably damaging	Het
Gm19668	A	T	10: 77,798,408	C242*	probably null	Het
Gm2840	G	A	5: 96,174,277		noncoding transcript	Het
Gm6614	A	G	6: 141,992,512	I227T	possibly damaging	Het
Gm8765	A	G	13: 50,700,378	T91A	probably benign	Het
Gmcl1p1	G	A	X: 3,078,226	G423S	probably benign	Het
Golim4	C	T	3: 75,908,125		probably null	Het
Gucy1b1	G	T	3: 82,034,862	T530K	probably damaging	Het
Hacl1	A	T	14: 31,640,596	D31E	possibly damaging	Het
Hectd4	A	G	5: 121,364,660	T4276A	possibly damaging	Het
Henmt1	T	C	3: 108,942,779	I26T	probably damaging	Het
Hspa1l	G	A	17: 34,978,391	A469T	probably damaging	Het
Htra3	T	A	5: 35,664,076		probably null	Het
Lrrc28	C	A	7: 67,628,294		probably null	Het
Mfhas1	T	C	8: 35,590,459	L696P	probably damaging	Het
Mios	A	G	6: 8,234,252	K808E	possibly damaging	Het
Mtnr1b	A	G	9: 15,863,200	Y188H	probably damaging	Het
Myom1	A	G	17: 71,101,220		probably benign	Het
Naca	A	T	10: 128,040,904		probably benign	Het
Nckap1l	T	A	15: 103,462,720	V213D	probably benign	Het
Ndufa6	C	T	15: 82,354,081	V50M	possibly damaging	Het
Olfr1000	A	G	2: 85,608,761	W50R	probably benign	Het
Olfr1055	T	A	2: 86,347,733	Y11F	possibly damaging	Het
Olfr1260	T	A	2: 89,978,539	F254I	possibly damaging	Het
Olfr1465	A	G	19: 13,313,986	F100L	possibly damaging	Het
Olfr923	A	G	9: 38,828,350	T220A	probably benign	Het
Osbpl1a	T	C	18: 12,763,575	Y311C	probably damaging	Het
Parp11	A	C	6: 127,491,599	Y204S	probably damaging	Het
Plec	T	C	15: 76,189,258	R519G	probably benign	Het
Ppp2r5c	T	A	12: 110,567,827	Y375N	probably benign	Het
Prss35	C	A	9: 86,755,274	S32R	probably benign	Het
Prss57	C	T	10: 79,785,747		probably benign	Het
Ptprc	A	C	1: 138,099,481		probably null	Het
Rims1	A	G	1: 22,538,602	C188R	probably damaging	Het
Ripk4	G	T	16: 97,751,496	Y144*	probably null	Het
Rpgrip1	A	T	14: 52,126,271		probably benign	Het
Rps6ka4	A	G	19: 6,832,323	V378A	probably benign	Het
Rtf1	A	G	2: 119,712,108	K298E	probably benign	Het
Sdk1	T	C	5: 142,085,765	F1237L	possibly damaging	Het
Slc40a1	T	C	1: 45,909,492	K543E	probably benign	Het
Sorcs3	A	T	19: 48,794,168	I1041F	possibly damaging	Het
Taok3	T	C	5: 117,272,197	M818T	probably benign	Het
Tas2r119	T	A	15: 32,177,977	F230I	probably damaging	Het
Tbc1d8	T	C	1: 39,381,304	D716G	probably damaging	Het
Tfg	A	G	16: 56,701,102	S58P	probably damaging	Het
Thnsl1	A	G	2: 21,213,132	I45V	probably damaging	Het
Tle1	A	G	4: 72,170,718	L96P	probably damaging	Het
Tmem260	A	C	14: 48,480,325	S276R	possibly damaging	Het
Utp20	A	G	10: 88,764,781	S24P	probably damaging	Het
Vcam1	T	C	3: 116,115,951	I576V	probably benign	Het
Vmn1r27	G	T	6: 58,215,553	N105K	probably benign	Het
Vmn2r12	A	C	5: 109,093,027	Y73*	probably null	Het
Vmn2r86	T	C	10: 130,446,282	I822V	probably benign	Het
Wdr6	C	T	9: 108,574,897	V596I	possibly damaging	Het
Zfp946	A	T	17: 22,454,662	K132N	possibly damaging	Het

Other mutations in Pla2g4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00660:Pla2g4a	APN	1	149886203	missense	probably benign	0.08
IGL00763:Pla2g4a	APN	1	149851325	missense	probably damaging	1.00
IGL01683:Pla2g4a	APN	1	149857654	missense	probably benign	0.05
IGL01903:Pla2g4a	APN	1	149840619	missense	possibly damaging	0.51
IGL02049:Pla2g4a	APN	1	149861096	missense	probably benign	0.12
IGL02103:Pla2g4a	APN	1	149901199	missense	probably damaging	0.99
IGL03132:Pla2g4a	APN	1	149902284	splice site	probably benign
IGL03299:Pla2g4a	APN	1	149851367	missense	probably damaging	1.00
IGL03302:Pla2g4a	APN	1	149864947	missense	probably benign	0.00
R0110:Pla2g4a	UTSW	1	149840647	missense	possibly damaging	0.67
R0469:Pla2g4a	UTSW	1	149840647	missense	possibly damaging	0.67
R0488:Pla2g4a	UTSW	1	149871445	missense	probably damaging	1.00
R0606:Pla2g4a	UTSW	1	149840704	missense	probably benign	0.44
R1468:Pla2g4a	UTSW	1	149887593	splice site	probably benign
R1470:Pla2g4a	UTSW	1	149840720	missense	probably damaging	1.00
R1470:Pla2g4a	UTSW	1	149840720	missense	probably damaging	1.00
R1521:Pla2g4a	UTSW	1	149857686	critical splice acceptor site	probably null
R1718:Pla2g4a	UTSW	1	149871523	splice site	probably benign
R1778:Pla2g4a	UTSW	1	149902445	splice site	probably benign
R1967:Pla2g4a	UTSW	1	149922081	missense	probably damaging	1.00
R2063:Pla2g4a	UTSW	1	149840676	missense	possibly damaging	0.94
R2291:Pla2g4a	UTSW	1	149901189	missense	probably damaging	1.00
R3855:Pla2g4a	UTSW	1	149830177	missense	possibly damaging	0.86
R4512:Pla2g4a	UTSW	1	149861051	splice site	probably null
R4568:Pla2g4a	UTSW	1	149842226	missense	probably benign	0.43
R5266:Pla2g4a	UTSW	1	149865167	missense	possibly damaging	0.79
R5855:Pla2g4a	UTSW	1	149880063	missense	probably damaging	0.99
R5897:Pla2g4a	UTSW	1	149865148	missense	probably damaging	0.99
R6012:Pla2g4a	UTSW	1	149932677	missense	possibly damaging	0.55
R6193:Pla2g4a	UTSW	1	149902430	missense	probably damaging	1.00
R6246:Pla2g4a	UTSW	1	149872587	missense	probably damaging	1.00
R6248:Pla2g4a	UTSW	1	149872587	missense	probably damaging	1.00
R6258:Pla2g4a	UTSW	1	149857487	missense	probably benign	0.00
R6260:Pla2g4a	UTSW	1	149857487	missense	probably benign	0.00
R6293:Pla2g4a	UTSW	1	149880047	missense	probably damaging	0.98
R6310:Pla2g4a	UTSW	1	149842226	missense	possibly damaging	0.88
R6490:Pla2g4a	UTSW	1	149851335	nonsense	probably null
R6502:Pla2g4a	UTSW	1	149872616	nonsense	probably null
R6614:Pla2g4a	UTSW	1	149842235	missense	probably benign	0.07
R6671:Pla2g4a	UTSW	1	149887631	missense	probably benign
R6745:Pla2g4a	UTSW	1	149886230	missense	probably benign	0.07
R6880:Pla2g4a	UTSW	1	149851451	missense	possibly damaging	0.90
R7058:Pla2g4a	UTSW	1	149851352	missense	probably damaging	1.00
R7163:Pla2g4a	UTSW	1	149840665	nonsense	probably null
R7422:Pla2g4a	UTSW	1	149932687	missense	probably benign	0.32
R7454:Pla2g4a	UTSW	1	149872690	missense	possibly damaging	0.63
R7474:Pla2g4a	UTSW	1	149865200	missense	possibly damaging	0.88
R7514:Pla2g4a	UTSW	1	149851362	missense	probably damaging	1.00
R7536:Pla2g4a	UTSW	1	149880017	missense	probably damaging	1.00
R7682:Pla2g4a	UTSW	1	149886271	missense	probably damaging	1.00
R7744:Pla2g4a	UTSW	1	149861102	missense	probably benign	0.06
R7766:Pla2g4a	UTSW	1	149861058	missense	probably benign	0.00
R7783:Pla2g4a	UTSW	1	149872744	missense	probably damaging	1.00
R8031:Pla2g4a	UTSW	1	149901213	missense	possibly damaging	0.87
R8145:Pla2g4a	UTSW	1	149840643	missense	probably benign	0.42
R8189:Pla2g4a	UTSW	1	149857586	missense	probably benign	0.04
R8252:Pla2g4a	UTSW	1	149851307	missense	probably damaging	1.00
R8315:Pla2g4a	UTSW	1	149886214	missense	probably benign	0.02
R8762:Pla2g4a	UTSW	1	149886184	missense	probably benign	0.00
R8783:Pla2g4a	UTSW	1	149864990	missense	probably damaging	1.00
R8838:Pla2g4a	UTSW	1	149871505	missense	probably benign	0.00
R9132:Pla2g4a	UTSW	1	149871479	missense	probably benign	0.01
R9282:Pla2g4a	UTSW	1	149871456	missense	probably damaging	1.00
R9412:Pla2g4a	UTSW	1	149880021	missense	probably damaging	0.99
X0021:Pla2g4a	UTSW	1	149864926	missense	possibly damaging	0.66
Z1177:Pla2g4a	UTSW	1	149871434	missense	probably damaging	1.00

Posted On

2013-12-09