Mutagenetix > Incidental Mutation

Incidental Mutation 'R0606:Pla2g4a'

54122

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

038795-MU

Accession Numbers

Essential gene?

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

Stock #

R0606 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

149705369-149837041 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 149716455 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 669 (F669L)

Ref Sequence

ENSEMBL: ENSMUSP00000107557 (fasta)

Gene Model

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

AlphaFold

P47713

Predicted Effect

probably benign
Transcript: ENSMUST00000070200
AA Change: F677L

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000070868
Gene: ENSMUSG00000056220
AA Change: F677L

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: ENSMUST00000104328

Predicted Effect

probably benign
Transcript: ENSMUST00000111926
AA Change: F669L

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000107557
Gene: ENSMUSG00000056220
AA Change: F669L

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

Meta Mutation Damage Score

0.1605

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.3%
20x: 94.2%

Validation Efficiency

98% (99/101)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl9	T	C	17: 33,652,572 (GRCm39)	Y211H	probably damaging	Het
Actn1	A	T	12: 80,221,421 (GRCm39)		probably benign	Het
Adtrp	A	G	13: 41,920,881 (GRCm39)	F197L	probably damaging	Het
Ankrd11	G	A	8: 123,619,571 (GRCm39)	T1406I	probably benign	Het
Arhgap24	A	T	5: 103,045,086 (GRCm39)	R620W	probably damaging	Het
Atg13	A	G	2: 91,512,418 (GRCm39)	Y284H	probably benign	Het
Atrn	A	G	2: 130,748,776 (GRCm39)	E99G	possibly damaging	Het
Cage1	A	T	13: 38,200,470 (GRCm39)		probably benign	Het
Cblif	A	T	19: 11,729,658 (GRCm39)	I206F	possibly damaging	Het
Ccr3	T	A	9: 123,828,839 (GRCm39)	M58K	probably benign	Het
Cdk18	G	T	1: 132,045,355 (GRCm39)		probably benign	Het
Chst5	A	G	8: 112,617,551 (GRCm39)	V23A	probably benign	Het
Col4a3	T	C	1: 82,650,307 (GRCm39)		probably benign	Het
Col4a6	A	G	X: 139,975,219 (GRCm39)		probably benign	Het
Csmd3	T	C	15: 48,321,058 (GRCm39)	I251V	probably benign	Het
Csnk1g3	G	A	18: 54,050,100 (GRCm39)	V115M	probably damaging	Het
Cst7	A	T	2: 150,412,439 (GRCm39)	M1L	probably benign	Het
Cyp4f17	A	T	17: 32,746,817 (GRCm39)	D373V	probably damaging	Het
Dclk2	G	A	3: 86,813,311 (GRCm39)	R212W	probably damaging	Het
Dhrs7b	T	G	11: 60,721,572 (GRCm39)		probably benign	Het
Dhx58	T	A	11: 100,593,077 (GRCm39)	H210L	probably benign	Het
Dnah9	T	C	11: 65,732,159 (GRCm39)	Y4249C	probably damaging	Het
Eif5b	T	A	1: 38,087,974 (GRCm39)	L990H	probably damaging	Het
Faap24	T	C	7: 35,094,388 (GRCm39)		probably benign	Het
Fryl	T	A	5: 73,282,077 (GRCm39)	H174L	probably benign	Het
Gabrr1	T	C	4: 33,132,696 (GRCm39)	W15R	probably benign	Het
Gm15446	T	C	5: 110,091,347 (GRCm39)	V533A	probably benign	Het
Gm6760	T	A	X: 63,195,259 (GRCm39)	K63*	probably null	Het
Gne	C	T	4: 44,042,244 (GRCm39)	E444K	possibly damaging	Het
Gpr173	T	A	X: 151,130,036 (GRCm39)	M146L	possibly damaging	Het
Hira	C	T	16: 18,753,797 (GRCm39)	S547L	probably benign	Het
Hnf1b	A	G	11: 83,754,810 (GRCm39)	H161R	probably benign	Het
Hnrnpm	T	A	17: 33,877,364 (GRCm39)	N53I	probably damaging	Het
Hs3st5	A	T	10: 36,708,584 (GRCm39)	I40F	probably benign	Het
Hydin	C	T	8: 111,276,430 (GRCm39)		probably benign	Het
Ift172	A	G	5: 31,411,657 (GRCm39)	I1607T	probably damaging	Het
Igfn1	T	C	1: 135,887,639 (GRCm39)	Q2475R	probably damaging	Het
Il6st	T	C	13: 112,640,806 (GRCm39)	S800P	possibly damaging	Het
Iqub	G	A	6: 24,501,260 (GRCm39)		probably benign	Het
Itgb1	A	T	8: 129,448,853 (GRCm39)		probably benign	Het
Kctd21	G	A	7: 96,996,808 (GRCm39)	E94K	probably benign	Het
Kir3dl2	A	G	X: 135,354,260 (GRCm39)	V233A	possibly damaging	Het
Klra2	A	T	6: 131,197,187 (GRCm39)	C271S	probably damaging	Het
Lacc1	A	T	14: 77,267,061 (GRCm39)	C401S	probably damaging	Het
Lmna	T	C	3: 88,389,885 (GRCm39)	E580G	probably damaging	Het
Matn2	A	G	15: 34,345,296 (GRCm39)	Y101C	probably damaging	Het
Mrps16	G	A	14: 20,441,457 (GRCm39)	R116*	probably null	Het
Ndrg2	G	T	14: 52,143,674 (GRCm39)	R333S	probably damaging	Het
Nf2	A	G	11: 4,732,194 (GRCm39)	I507T	possibly damaging	Het
Nktr	A	G	9: 121,578,356 (GRCm39)		probably benign	Het
Nkx3-1	G	A	14: 69,428,455 (GRCm39)		probably benign	Het
Npat	T	C	9: 53,467,781 (GRCm39)		probably null	Het
Nrxn1	T	C	17: 90,872,801 (GRCm39)	N1047S	probably damaging	Het
Nup210	A	T	6: 91,003,911 (GRCm39)	I1402N	possibly damaging	Het
Or5d40	G	T	2: 88,015,624 (GRCm39)	M134I	possibly damaging	Het
Parp14	G	A	16: 35,677,130 (GRCm39)	A946V	probably benign	Het
Pdcl2	C	T	5: 76,460,328 (GRCm39)	S182N	probably benign	Het
Pdia3	G	A	2: 121,262,858 (GRCm39)	G275S	probably damaging	Het
Plekha8	A	G	6: 54,606,805 (GRCm39)	K367E	probably damaging	Het
Pola1	A	G	X: 92,531,693 (GRCm39)		probably benign	Het
Ppm1d	C	T	11: 85,236,703 (GRCm39)	T494I	probably benign	Het
Pramel16	T	A	4: 143,676,453 (GRCm39)	Y217F	probably benign	Het
Prl6a1	A	T	13: 27,498,177 (GRCm39)		probably benign	Het
Ptprg	T	A	14: 12,154,131 (GRCm38)	S617R	probably benign	Het
R3hdm2	G	A	10: 127,280,313 (GRCm39)	G45D	probably damaging	Het
Rev1	T	A	1: 38,098,204 (GRCm39)	R780W	probably null	Het
Rnf139	T	A	15: 58,771,676 (GRCm39)	F567Y	probably damaging	Het
Scarf1	T	C	11: 75,405,174 (GRCm39)	V71A	probably damaging	Het
Shtn1	A	G	19: 58,988,372 (GRCm39)	S438P	probably damaging	Het
Slc30a3	T	A	5: 31,246,067 (GRCm39)	H221L	probably benign	Het
Smo	A	C	6: 29,753,603 (GRCm39)	I160L	possibly damaging	Het
Snapc5	A	T	9: 64,086,582 (GRCm39)		probably benign	Het
Snf8	G	T	11: 95,925,799 (GRCm39)		probably benign	Het
Spata31d1a	T	C	13: 59,850,245 (GRCm39)	S628G	probably benign	Het
Sphkap	A	T	1: 83,258,145 (GRCm39)	D199E	probably damaging	Het
Spring1	T	C	5: 118,397,154 (GRCm39)	Y128H	probably damaging	Het
Stxbp5l	T	C	16: 37,024,883 (GRCm39)	T572A	possibly damaging	Het
Thada	C	A	17: 84,723,731 (GRCm39)	V1108L	possibly damaging	Het
Tln1	T	C	4: 43,547,756 (GRCm39)	Q735R	probably benign	Het
Trim24	G	A	6: 37,848,169 (GRCm39)	E42K	probably benign	Het
Trnt1	T	A	6: 106,754,869 (GRCm39)		probably benign	Het
Ttbk2	A	T	2: 120,604,353 (GRCm39)	M215K	probably damaging	Het
Ttc8	C	T	12: 98,909,718 (GRCm39)		probably benign	Het
Ube3c	A	G	5: 29,795,926 (GRCm39)	Y105C	probably damaging	Het
Unc13c	A	G	9: 73,438,265 (GRCm39)		probably benign	Het
Usp36	A	G	11: 118,153,854 (GRCm39)		probably benign	Het
Vcf2	C	T	X: 149,181,360 (GRCm39)	A144T	probably benign	Het
Vmn2r102	T	C	17: 19,899,106 (GRCm39)	S483P	possibly damaging	Het
Wdr95	A	G	5: 149,511,595 (GRCm39)	T432A	probably damaging	Het
Wnk1	G	T	6: 119,903,644 (GRCm39)	P2523H	probably damaging	Het
Xpo4	A	G	14: 57,875,665 (GRCm39)		probably benign	Het
Zar1	G	T	5: 72,737,886 (GRCm39)	P71Q	probably damaging	Het
Zbtb41	T	C	1: 139,351,348 (GRCm39)	Y154H	probably benign	Het
Zer1	G	T	2: 29,994,809 (GRCm39)		probably benign	Het
Zfp454	A	G	11: 50,765,012 (GRCm39)	F140S	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
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

Predicted Primers

PCR Primer
(F):5'- TGGTCACCTCAGAGCCATATCTGTC -3'
(R):5'- ACGGAAGCTGGGTATCTTCCCAAC -3'

Sequencing Primer
(F):5'- CAGAGCCATATCTGTCTTCTTAATG -3'
(R):5'- AATCACAGGCTTTCTGGTGATTC -3'

Posted On

2013-07-11