Mutagenetix > Incidental Mutation

Incidental Mutation 'R1967:Pla2g4a'

219016

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

039980-MU

Accession Numbers

Essential gene?

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

Stock #

R1967 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

149705369-149837041 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 149797832 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 22 (V22A)

Ref Sequence

ENSEMBL: ENSMUSP00000107557 (fasta)

Gene Model

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

AlphaFold

P47713

Predicted Effect

probably damaging
Transcript: ENSMUST00000070200
AA Change: V30A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000070868
Gene: ENSMUSG00000056220
AA Change: V30A

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: V22A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107557
Gene: ENSMUSG00000056220
AA Change: V22A

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: ENSMUST00000142040

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	A	C	15: 37,439,842 (GRCm39)		probably benign	Het
Abca6	T	C	11: 110,077,974 (GRCm39)	I1278V	probably benign	Het
Adamts15	C	T	9: 30,832,605 (GRCm39)	W310*	probably null	Het
Adamts6	T	A	13: 104,563,459 (GRCm39)	C650*	probably null	Het
Akap3	G	T	6: 126,842,061 (GRCm39)	G227C	probably benign	Het
Alox12e	A	T	11: 70,208,682 (GRCm39)	S457T	probably benign	Het
Angpt1	C	A	15: 42,301,703 (GRCm39)	C435F	probably damaging	Het
Anxa9	T	C	3: 95,207,919 (GRCm39)	Q207R	probably benign	Het
Aplnr	A	T	2: 84,967,950 (GRCm39)	D325V	probably benign	Het
Art2b	A	C	7: 101,229,414 (GRCm39)	F162V	probably damaging	Het
Atp13a4	A	G	16: 29,298,672 (GRCm39)	S96P	probably damaging	Het
Bnc1	A	T	7: 81,623,384 (GRCm39)	H614Q	probably benign	Het
C6	A	G	15: 4,789,302 (GRCm39)	D249G	probably damaging	Het
Camta1	A	T	4: 151,173,430 (GRCm39)	F977I	probably damaging	Het
Chil6	T	C	3: 106,298,470 (GRCm39)	S188G	possibly damaging	Het
Cntrob	A	T	11: 69,211,789 (GRCm39)	L145Q	probably damaging	Het
Coro7	T	C	16: 4,452,753 (GRCm39)	E306G	probably damaging	Het
Cplane1	T	G	15: 8,232,904 (GRCm39)	V1141G	probably benign	Het
Cpq	T	C	15: 33,497,348 (GRCm39)	S363P	possibly damaging	Het
Ctc1	A	G	11: 68,918,688 (GRCm39)		probably null	Het
Defb43	T	A	14: 63,255,246 (GRCm39)	N26K	probably benign	Het
Dennd1a	T	C	2: 37,734,845 (GRCm39)	T41A	probably benign	Het
Dnah11	A	C	12: 117,880,523 (GRCm39)	Y3866D	probably damaging	Het
Eml6	A	G	11: 29,974,545 (GRCm39)	L11P	probably damaging	Het
Epha5	A	G	5: 84,564,288 (GRCm39)	V26A	probably benign	Het
Fam13c	A	G	10: 70,387,565 (GRCm39)	D443G	probably damaging	Het
Fam227a	G	A	15: 79,521,335 (GRCm39)	L243F	possibly damaging	Het
Fat3	T	G	9: 15,879,591 (GRCm39)	R3301S	probably benign	Het
Fbxw20	T	C	9: 109,046,578 (GRCm39)	T461A	probably benign	Het
Fgf8	T	A	19: 45,730,007 (GRCm39)	S61C	probably damaging	Het
Fgfrl1	A	G	5: 108,852,871 (GRCm39)	E100G	probably damaging	Het
Gabra4	G	A	5: 71,729,412 (GRCm39)	S456F	possibly damaging	Het
Gas6	T	C	8: 13,520,317 (GRCm39)	E457G	probably damaging	Het
Gpr33	G	A	12: 52,070,991 (GRCm39)	S16L	probably benign	Het
Greb1l	A	C	18: 10,501,049 (GRCm39)	N393T	possibly damaging	Het
Gtpbp4	T	C	13: 9,027,340 (GRCm39)	K492E	probably benign	Het
Hsf2bp	A	T	17: 32,206,378 (GRCm39)	L251*	probably null	Het
Hyal5	A	T	6: 24,876,193 (GRCm39)	Q22L	possibly damaging	Het
Itih1	A	T	14: 30,663,941 (GRCm39)	V114E	possibly damaging	Het
Jak3	T	A	8: 72,134,179 (GRCm39)	I427N	probably damaging	Het
Jcad	T	C	18: 4,675,162 (GRCm39)	S975P	probably benign	Het
Kcng4	A	G	8: 120,359,662 (GRCm39)	V238A	probably damaging	Het
Klb	A	G	5: 65,529,417 (GRCm39)	D315G	probably damaging	Het
Klrh1	A	T	6: 129,752,798 (GRCm39)	N2K	possibly damaging	Het
Krt5	T	C	15: 101,620,094 (GRCm39)	N208D	probably benign	Het
Lmo7	T	A	14: 102,137,651 (GRCm39)	H551Q	probably benign	Het
Lrp8	G	T	4: 107,717,168 (GRCm39)	G732V	probably damaging	Het
Lrrc38	A	G	4: 143,096,553 (GRCm39)	D288G	unknown	Het
Lrrc4b	GAGAAG	GAG	7: 44,111,654 (GRCm39)		probably benign	Het
Mas1	A	G	17: 13,060,923 (GRCm39)	Y167H	probably benign	Het
Mcm8	A	C	2: 132,684,662 (GRCm39)	I759L	probably benign	Het
Med13l	G	A	5: 118,899,387 (GRCm39)	D2148N	probably damaging	Het
Muc20	A	T	16: 32,614,612 (GRCm39)	I255K	probably benign	Het
Myh1	A	G	11: 67,104,273 (GRCm39)	N980S	probably benign	Het
Nap1l4	T	A	7: 143,088,024 (GRCm39)	Q178L	probably damaging	Het
Ncapg	T	A	5: 45,857,252 (GRCm39)	L988Q	probably damaging	Het
Ncf2	A	T	1: 152,706,123 (GRCm39)	H245L	probably damaging	Het
Neurl4	A	G	11: 69,794,036 (GRCm39)	E164G	possibly damaging	Het
Nf1	G	A	11: 79,303,571 (GRCm39)	R416H	probably damaging	Het
Obscn	G	A	11: 59,026,535 (GRCm39)	Q223*	probably null	Het
Or10q1	T	A	19: 13,727,417 (GRCm39)	*316R	probably null	Het
Or2o1	T	C	11: 49,051,675 (GRCm39)	I278T	probably benign	Het
Pcdhb16	T	A	18: 37,612,715 (GRCm39)	N558K	probably damaging	Het
Pcnx2	A	T	8: 126,542,422 (GRCm39)	M1253K	possibly damaging	Het
Plppr5	G	A	3: 117,419,555 (GRCm39)		probably null	Het
Pnpla2	T	C	7: 141,039,345 (GRCm39)	S353P	probably benign	Het
Pom121	A	T	5: 135,420,608 (GRCm39)	L271Q	unknown	Het
Prepl	A	T	17: 85,395,979 (GRCm39)	M1K	probably null	Het
Prr14l	A	G	5: 33,001,813 (GRCm39)		probably benign	Het
Psmc3	C	A	2: 90,888,189 (GRCm39)	P325T	probably benign	Het
Psme2b	A	G	11: 48,836,896 (GRCm39)	V17A	probably damaging	Het
Ptpro	A	G	6: 137,393,863 (GRCm39)	I23V	probably benign	Het
Rab31	A	G	17: 66,079,499 (GRCm39)		probably null	Het
Ranbp6	T	A	19: 29,789,900 (GRCm39)	K151*	probably null	Het
Rbm12b1	A	T	4: 12,146,304 (GRCm39)	I759L	probably benign	Het
Rgs5	T	C	1: 169,504,425 (GRCm39)	I25T	probably benign	Het
Rnf213	T	C	11: 119,371,721 (GRCm39)	V4842A	probably damaging	Het
Rtl9	A	T	X: 141,886,037 (GRCm39)	I1150F	probably damaging	Het
Scn1a	A	T	2: 66,158,769 (GRCm39)	W384R	probably damaging	Het
Sema5a	C	T	15: 32,681,765 (GRCm39)	P948L	probably damaging	Het
Slc26a3	G	A	12: 31,515,777 (GRCm39)	R559Q	probably damaging	Het
Slc29a3	A	G	10: 60,552,243 (GRCm39)	V267A	probably benign	Het
Spata22	A	G	11: 73,221,953 (GRCm39)		probably benign	Het
Spata31e2	T	A	1: 26,722,454 (GRCm39)	I909L	probably benign	Het
Sptbn2	G	T	19: 4,795,327 (GRCm39)	R1595L	probably benign	Het
Tfdp1	T	C	8: 13,423,039 (GRCm39)	S315P	possibly damaging	Het
Tle1	A	T	4: 72,038,463 (GRCm39)	V688E	probably damaging	Het
Tmem129	A	T	5: 33,812,665 (GRCm39)		probably null	Het
Tmprss11a	G	A	5: 86,579,702 (GRCm39)	T91I	probably benign	Het
Tnfsf14	A	G	17: 57,497,807 (GRCm39)	Y142H	probably damaging	Het
Tph1	T	C	7: 46,311,538 (GRCm39)	D68G	probably benign	Het
Ttn	A	T	2: 76,592,631 (GRCm39)	S12507T	probably damaging	Het
Tubgcp2	T	A	7: 139,586,066 (GRCm39)	M408L	probably benign	Het
Usp34	A	T	11: 23,314,503 (GRCm39)	H815L	probably benign	Het
Usp6nl	G	A	2: 6,446,330 (GRCm39)	R746H	probably benign	Het
Utp20	A	G	10: 88,652,841 (GRCm39)	S358P	probably benign	Het
Vmn2r118	G	A	17: 55,899,882 (GRCm39)	T674I	probably damaging	Het
Vmn2r8	A	T	5: 108,950,249 (GRCm39)	H199Q	probably benign	Het
Vmn2r9	A	G	5: 108,995,388 (GRCm39)	V420A	probably benign	Het
Vmn2r99	A	T	17: 19,599,077 (GRCm39)	T254S	probably benign	Het
Zbed5	A	G	5: 129,930,510 (GRCm39)	H132R	possibly damaging	Het
Zfp568	A	G	7: 29,688,513 (GRCm39)	E25G	probably damaging	Het
Zfp951	T	A	5: 104,964,866 (GRCm39)	I67L	possibly 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
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'- ACAGCCTCAGGATGGTTCAG -3'
(R):5'- CTCCTCAATGATTCTGTGGTGG -3'

Sequencing Primer
(F):5'- AGCCTCAGGATGGTTCAGACATTC -3'
(R):5'- CCCTAGCATCACAAAATGTTTCTGG -3'

Posted On

2014-08-25