Mutagenetix > Incidental Mutation

Incidental Mutation 'R1778:Pla2g4a'

197188

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

039809-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.190) question?

Stock #

R1778 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

149705369-149837041 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 149778196 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139851 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070200] [ENSMUST00000111926] [ENSMUST00000190507]

AlphaFold

P47713

Predicted Effect

probably benign
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

probably benign
Transcript: ENSMUST00000111926

SMART Domains

Protein: ENSMUSP00000107557
Gene: ENSMUSG00000056220

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155438

Predicted Effect

probably benign
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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.3%

Validation Efficiency

98% (107/109)

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	T	C	7: 29,260,131 (GRCm39)		noncoding transcript	Het
4930568D16Rik	A	G	2: 35,244,995 (GRCm39)	M119T	probably damaging	Het
Aadacl2	A	G	3: 59,924,871 (GRCm39)		probably null	Het
Abca9	C	T	11: 110,021,542 (GRCm39)	W1056*	probably null	Het
Adam20	A	C	8: 41,249,698 (GRCm39)	T603P	possibly damaging	Het
Adgrl1	T	C	8: 84,656,666 (GRCm39)	L323P	probably damaging	Het
Afap1l2	C	T	19: 56,904,638 (GRCm39)	E628K	possibly damaging	Het
Ahctf1	A	T	1: 179,580,580 (GRCm39)	L1874Q	possibly damaging	Het
Ak8	A	G	2: 28,602,333 (GRCm39)	E89G	probably benign	Het
Aldh16a1	G	A	7: 44,796,732 (GRCm39)	R256C	probably damaging	Het
Anxa5	G	A	3: 36,519,480 (GRCm39)	T3M	probably damaging	Het
Arhgef16	T	C	4: 154,372,443 (GRCm39)	K210E	probably benign	Het
Baz2b	T	C	2: 59,836,480 (GRCm39)	T18A	unknown	Het
Bub1	A	C	2: 127,645,042 (GRCm39)	I960M	possibly damaging	Het
Cbln2	G	T	18: 86,731,272 (GRCm39)	D27Y	probably benign	Het
Ces2h	C	A	8: 105,741,239 (GRCm39)	P77Q	possibly damaging	Het
Cfap410	G	T	10: 77,818,778 (GRCm39)	A150S	probably benign	Het
Chga	T	A	12: 102,527,959 (GRCm39)	M150K	probably benign	Het
Chmp3	A	G	6: 71,554,791 (GRCm39)	E162G	probably benign	Het
Clip3	A	G	7: 29,996,861 (GRCm39)	N161S	probably damaging	Het
Col12a1	T	A	9: 79,511,867 (GRCm39)		probably benign	Het
Cuedc2	C	T	19: 46,320,079 (GRCm39)	G105D	probably benign	Het
Cyp2j7	A	C	4: 96,087,627 (GRCm39)	F428V	probably damaging	Het
Ddx60	A	G	8: 62,427,210 (GRCm39)	I762V	possibly damaging	Het
Def6	G	A	17: 28,439,160 (GRCm39)	R257Q	probably benign	Het
Dkkl1	A	T	7: 44,860,819 (GRCm39)		probably null	Het
Dnah3	A	G	7: 119,677,625 (GRCm39)	L433P	probably damaging	Het
Eif2s3y	C	T	Y: 1,011,287 (GRCm39)	R33C	probably benign	Het
Elavl2	T	A	4: 91,141,715 (GRCm39)	Y269F	probably damaging	Het
Esco2	A	G	14: 66,068,711 (GRCm39)	S200P	possibly damaging	Het
Fcrl1	T	A	3: 87,292,626 (GRCm39)		probably benign	Het
Fhod1	C	A	8: 106,056,309 (GRCm39)	D1135Y	probably damaging	Het
Fnbp1l	T	C	3: 122,383,796 (GRCm39)	N41D	possibly damaging	Het
Folh1	A	T	7: 86,410,907 (GRCm39)		probably null	Het
Fpr-rs7	T	C	17: 20,334,277 (GRCm39)	D71G	probably damaging	Het
Gm10271	A	G	10: 116,797,844 (GRCm39)		probably benign	Het
Gm4841	A	T	18: 60,404,020 (GRCm39)	Y24*	probably null	Het
Greb1	G	A	12: 16,740,895 (GRCm39)	R1396C	probably benign	Het
Hectd1	C	T	12: 51,800,590 (GRCm39)	C2076Y	probably damaging	Het
Hnrnpu	A	G	1: 178,152,806 (GRCm39)		probably benign	Het
Ice2	T	C	9: 69,322,930 (GRCm39)	I475T	probably benign	Het
Ifit1bl1	T	A	19: 34,571,593 (GRCm39)	Q288L	probably damaging	Het
Ift56	T	A	6: 38,386,411 (GRCm39)	D377E	possibly damaging	Het
Ik	T	C	18: 36,889,871 (GRCm39)		probably benign	Het
Kidins220	C	T	12: 25,063,445 (GRCm39)		probably benign	Het
Kmt2c	T	C	5: 25,577,972 (GRCm39)	D768G	probably benign	Het
Kmt2e	A	G	5: 23,697,362 (GRCm39)	T87A	probably damaging	Het
Lama5	G	A	2: 179,837,274 (GRCm39)		probably benign	Het
Lmbr1l	A	G	15: 98,810,357 (GRCm39)	S85P	probably damaging	Het
Lrig2	A	G	3: 104,374,682 (GRCm39)		probably benign	Het
Lrig3	A	G	10: 125,845,944 (GRCm39)	D791G	probably damaging	Het
Lrrc2	G	A	9: 110,809,908 (GRCm39)	V315M	probably benign	Het
Lrrc4b	A	G	7: 44,111,823 (GRCm39)	D565G	probably benign	Het
Mpped1	C	T	15: 83,676,191 (GRCm39)		probably benign	Het
Msrb2	T	A	2: 19,388,114 (GRCm39)	D87E	probably benign	Het
Muc20	T	C	16: 32,614,511 (GRCm39)	T289A	possibly damaging	Het
Myo15a	C	A	11: 60,369,238 (GRCm39)	P666Q	possibly damaging	Het
Nfat5	C	T	8: 108,088,421 (GRCm39)	P579L	probably damaging	Het
Nipbl	A	C	15: 8,348,972 (GRCm39)	M1920R	probably damaging	Het
Nuak1	T	C	10: 84,210,738 (GRCm39)		probably null	Het
Nup210l	A	G	3: 90,096,793 (GRCm39)	E1334G	probably damaging	Het
Odad2	A	T	18: 7,127,388 (GRCm39)	C942S	probably damaging	Het
Or52e8b	A	T	7: 104,673,370 (GRCm39)	N272K	probably benign	Het
Or5an1c	T	A	19: 12,218,819 (GRCm39)	I69F	probably benign	Het
Or6c6c	T	C	10: 129,541,574 (GRCm39)	Y276H	probably benign	Het
Or9s13	G	A	1: 92,548,342 (GRCm39)	G238E	possibly damaging	Het
Or9s14	A	T	1: 92,535,831 (GRCm39)	N91Y	possibly damaging	Het
P4ha3	A	T	7: 99,949,898 (GRCm39)		probably null	Het
Pbld2	C	T	10: 62,890,150 (GRCm39)	A186V	probably benign	Het
Pcdh18	A	T	3: 49,710,083 (GRCm39)	Y411N	probably benign	Het
Pgf	A	G	12: 85,218,541 (GRCm39)	S70P	probably benign	Het
Phrf1	T	A	7: 140,812,369 (GRCm39)	D44E	probably benign	Het
Plce1	A	G	19: 38,769,234 (GRCm39)		probably benign	Het
Plxna2	A	G	1: 194,493,278 (GRCm39)	N1851S	probably benign	Het
Prl7a2	G	A	13: 27,843,254 (GRCm39)	T183I	probably damaging	Het
Prxl2b	A	T	4: 154,981,814 (GRCm39)	V151D	probably damaging	Het
Ptger4	A	T	15: 5,264,576 (GRCm39)	L335H	probably damaging	Het
Ptgr1	A	G	4: 58,984,865 (GRCm39)		probably benign	Het
Rdh7	A	G	10: 127,720,590 (GRCm39)	S261P	probably benign	Het
Reg3a	A	G	6: 78,360,269 (GRCm39)	T150A	probably benign	Het
Rnf111	A	G	9: 70,383,394 (GRCm39)	S180P	probably benign	Het
Rnf17	A	G	14: 56,759,856 (GRCm39)	M1554V	probably damaging	Het
Rnf215	T	A	11: 4,085,873 (GRCm39)	Y117*	probably null	Het
Rnps1-ps	A	T	6: 7,983,124 (GRCm39)		noncoding transcript	Het
Rogdi	T	C	16: 4,828,369 (GRCm39)	T165A	probably benign	Het
Rpe65	A	G	3: 159,328,485 (GRCm39)	Y431C	probably damaging	Het
Scube1	A	G	15: 83,494,405 (GRCm39)	F844S	probably damaging	Het
Sdr16c6	T	A	4: 4,058,814 (GRCm39)	E257D	probably benign	Het
Sim1	C	A	10: 50,857,649 (GRCm39)	C466*	probably null	Het
Spi1	T	A	2: 90,929,867 (GRCm39)	H46Q	probably damaging	Het
Sumf2	C	A	5: 129,873,909 (GRCm39)		probably benign	Het
Tbcb	A	G	7: 29,931,037 (GRCm39)	Y28H	probably benign	Het
Tecta	C	T	9: 42,254,927 (GRCm39)	C1752Y	probably damaging	Het
Tep1	T	C	14: 51,067,079 (GRCm39)		probably benign	Het
Tmem245	A	T	4: 56,903,968 (GRCm39)	W591R	probably damaging	Het
Tnxb	A	G	17: 34,902,548 (GRCm39)	I1134V	probably benign	Het
Trappc14	T	C	5: 138,260,739 (GRCm39)		probably null	Het
Trim13	G	T	14: 61,843,068 (GRCm39)	A362S	probably benign	Het
Trim47	T	A	11: 116,000,646 (GRCm39)	D134V	probably damaging	Het
Utrn	C	A	10: 12,312,108 (GRCm39)	D616Y	probably damaging	Het
Vnn1	G	T	10: 23,775,415 (GRCm39)	A222S	possibly damaging	Het
Wdr17	A	G	8: 55,143,249 (GRCm39)	W110R	probably damaging	Het
Wwp1	G	T	4: 19,627,892 (GRCm39)	Y700*	probably null	Het
Zbtb21	T	C	16: 97,751,785 (GRCm39)	S661G	probably benign	Het
Zfp955b	A	G	17: 33,521,788 (GRCm39)	K419R	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- GGAACGAGCATTGTTCACATCCCC -3'
(R):5'- TGATGGAGTTTATGTCAGCCGCAG -3'

Sequencing Primer
(F):5'- CATCCCCCGGATGATTCAC -3'
(R):5'- AAGATGCTGGCCTTCCAGATG -3'

Posted On

2014-05-23