Mutagenetix > Incidental Mutation

Incidental Mutation 'R1747:Pla2g4c'

194046

Institutional Source

Beutler Lab

Gene Symbol

Pla2g4c

Ensembl Gene

ENSMUSG00000033847

Gene Name

phospholipase A2, group IVC (cytosolic, calcium-independent)

Synonyms

CPLA2-gamma

MMRRC Submission

039779-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R1747 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13058580-13094597 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 13071655 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127060 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043612] [ENSMUST00000108528] [ENSMUST00000167232]

AlphaFold

Q64GA5

Predicted Effect

probably benign
Transcript: ENSMUST00000043612

SMART Domains

Protein: ENSMUSP00000043672
Gene: ENSMUSG00000033847

Domain	Start	End	E-Value	Type
PLAc	1	534	1.97e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000092523

Predicted Effect

probably benign
Transcript: ENSMUST00000108528

SMART Domains

Protein: ENSMUSP00000104168
Gene: ENSMUSG00000033847

Domain	Start	End	E-Value	Type
PLAc	1	544	1.23e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157290

Predicted Effect

probably benign
Transcript: ENSMUST00000167232

SMART Domains

Protein: ENSMUSP00000127060
Gene: ENSMUSG00000033847

Domain	Start	End	E-Value	Type
PLAc	1	544	1.23e-8	SMART

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.7%

Validation Efficiency

97% (65/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is a member of the phospholipase A2 enzyme family which hydrolyzes glycerophospholipids to produce free fatty acids and lysophospholipids, both of which serve as precursors in the production of signaling molecules. The encoded protein has been shown to be a calcium-independent and membrane bound enzyme. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	C	T	8: 13,608,814 (GRCm39)	S117N	probably damaging	Het
Acat3	A	G	17: 13,143,695 (GRCm39)	I349T	possibly damaging	Het
Add3	A	G	19: 53,230,981 (GRCm39)	N552S	probably benign	Het
Ak3	G	T	19: 29,000,261 (GRCm39)	P217T	possibly damaging	Het
Aox1	A	T	1: 58,378,751 (GRCm39)	D1000V	probably benign	Het
Ap1m2	A	G	9: 21,216,982 (GRCm39)	M118T	probably damaging	Het
Arhgap28	C	A	17: 68,208,304 (GRCm39)	A105S	probably benign	Het
Arhgef28	T	C	13: 98,073,332 (GRCm39)	E1368G	probably damaging	Het
Armc7	G	A	11: 115,379,583 (GRCm39)	V94I	probably benign	Het
Asxl1	C	A	2: 153,235,374 (GRCm39)	T223N	possibly damaging	Het
Btbd8	T	C	5: 107,599,865 (GRCm39)	S119P	probably damaging	Het
Cltc	T	C	11: 86,597,907 (GRCm39)	K1078E	probably damaging	Het
Cpne8	G	A	15: 90,469,118 (GRCm39)	T158I	probably benign	Het
Csn1s2b	T	C	5: 87,964,529 (GRCm39)		probably benign	Het
Cyp3a59	A	G	5: 146,041,568 (GRCm39)	I371V	probably benign	Het
Dennd4c	T	C	4: 86,725,675 (GRCm39)	F710L	probably damaging	Het
Diaph3	T	C	14: 87,310,773 (GRCm39)	D126G	probably damaging	Het
Dnm3	G	A	1: 162,141,153 (GRCm39)	R369C	probably damaging	Het
Dst	A	C	1: 34,199,790 (GRCm39)	Q86P	probably damaging	Het
Ern2	C	A	7: 121,773,042 (GRCm39)		probably null	Het
Ern2	T	A	7: 121,773,043 (GRCm39)		probably null	Het
Exoc6	T	A	19: 37,628,217 (GRCm39)		probably null	Het
Glg1	G	A	8: 111,924,305 (GRCm39)	R228C	probably damaging	Het
Gm4736	G	A	6: 132,092,633 (GRCm39)		noncoding transcript	Het
Hmcn2	G	C	2: 31,347,997 (GRCm39)	G4881A	probably benign	Het
Htr2a	T	G	14: 74,943,593 (GRCm39)	F391C	probably damaging	Het
Htr5b	A	T	1: 121,455,647 (GRCm39)	V91E	probably damaging	Het
Ifi44	T	A	3: 151,454,922 (GRCm39)	H101L	probably benign	Het
Ip6k1	G	A	9: 107,918,195 (GRCm39)	E77K	possibly damaging	Het
Klhl6	T	A	16: 19,765,778 (GRCm39)	H608L	probably benign	Het
Lrp4	T	C	2: 91,322,966 (GRCm39)	V1150A	probably damaging	Het
Lyst	T	C	13: 13,932,007 (GRCm39)	F3545S	probably benign	Het
Magi3	T	C	3: 103,941,489 (GRCm39)	D822G	possibly damaging	Het
Nbas	G	A	12: 13,385,899 (GRCm39)	S721N	probably benign	Het
Nog	T	A	11: 89,192,408 (GRCm39)	M147L	probably benign	Het
Npr1	C	T	3: 90,365,976 (GRCm39)	C605Y	possibly damaging	Het
Or7e173	A	C	9: 19,938,613 (GRCm39)	V207G	probably benign	Het
Or8k21	G	A	2: 86,145,211 (GRCm39)	L140F	probably benign	Het
Pgs1	A	G	11: 117,892,457 (GRCm39)	S10G	probably benign	Het
Prdm14	C	T	1: 13,192,627 (GRCm39)	V371I	possibly damaging	Het
Prom1	C	T	5: 44,164,373 (GRCm39)	V703I	probably benign	Het
Ptprk	A	G	10: 28,230,688 (GRCm39)	T260A	possibly damaging	Het
Scnn1g	A	T	7: 121,359,686 (GRCm39)	I390F	probably damaging	Het
Scrt2	C	T	2: 151,935,638 (GRCm39)	H264Y	probably damaging	Het
Sel1l3	C	T	5: 53,302,887 (GRCm39)	E661K	possibly damaging	Het
Skic2	G	T	17: 35,066,782 (GRCm39)	P162H	probably benign	Het
Slc10a5	G	T	3: 10,400,451 (GRCm39)	Q70K	probably benign	Het
Smg8	A	G	11: 86,976,129 (GRCm39)	V484A	possibly damaging	Het
Sp110	C	G	1: 85,516,839 (GRCm39)	E219D	probably damaging	Het
Stag1	T	A	9: 100,770,353 (GRCm39)	S630T	probably benign	Het
Thyn1	A	C	9: 26,916,509 (GRCm39)	Q98P	probably damaging	Het
Ttc7	A	G	17: 87,614,443 (GRCm39)	R203G	possibly damaging	Het
Ttn	T	C	2: 76,708,860 (GRCm39)		probably benign	Het
Vmn1r236	C	T	17: 21,507,179 (GRCm39)	S99L	probably benign	Het
Vmn2r50	T	A	7: 9,781,605 (GRCm39)	H380L	probably benign	Het
Vmn2r73	A	T	7: 85,507,375 (GRCm39)	C646S	probably damaging	Het
Wnt10b	A	G	15: 98,672,214 (GRCm39)	S168P	probably benign	Het
Zc3h7a	A	G	16: 10,963,117 (GRCm39)	M748T	possibly damaging	Het
Zfp804b	C	G	5: 6,820,217 (GRCm39)	E913Q	probably benign	Het
Zfp974	G	T	7: 27,610,506 (GRCm39)	F406L	possibly damaging	Het
Zic4	G	A	9: 91,266,199 (GRCm39)	C274Y	probably damaging	Het

Other mutations in Pla2g4c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00953:Pla2g4c	APN	7	13,077,951 (GRCm39)	missense	probably benign	0.01
IGL00972:Pla2g4c	APN	7	13,074,583 (GRCm39)	missense	probably benign	0.13
IGL01759:Pla2g4c	APN	7	13,082,241 (GRCm39)	missense	probably damaging	1.00
IGL02567:Pla2g4c	APN	7	13,079,965 (GRCm39)	missense	probably damaging	1.00
IGL02629:Pla2g4c	APN	7	13,069,302 (GRCm39)	nonsense	probably null
IGL02719:Pla2g4c	APN	7	13,064,019 (GRCm39)	missense	probably damaging	1.00
IGL02812:Pla2g4c	APN	7	13,082,290 (GRCm39)	missense	probably damaging	1.00
PIT4142001:Pla2g4c	UTSW	7	13,077,316 (GRCm39)	missense	probably benign
R0184:Pla2g4c	UTSW	7	13,090,145 (GRCm39)	missense	probably benign	0.16
R1052:Pla2g4c	UTSW	7	13,077,334 (GRCm39)	missense	possibly damaging	0.95
R4381:Pla2g4c	UTSW	7	13,079,990 (GRCm39)	missense	probably damaging	1.00
R4486:Pla2g4c	UTSW	7	13,071,676 (GRCm39)	missense	probably benign	0.09
R4674:Pla2g4c	UTSW	7	13,077,439 (GRCm39)	missense	probably null	0.24
R4811:Pla2g4c	UTSW	7	13,071,738 (GRCm39)	missense	probably damaging	1.00
R5655:Pla2g4c	UTSW	7	13,063,889 (GRCm39)	splice site	probably null
R5791:Pla2g4c	UTSW	7	13,073,617 (GRCm39)	missense	probably benign	0.32
R5814:Pla2g4c	UTSW	7	13,074,543 (GRCm39)	missense	probably damaging	1.00
R6381:Pla2g4c	UTSW	7	13,077,933 (GRCm39)	missense	probably benign	0.05
R6395:Pla2g4c	UTSW	7	13,077,933 (GRCm39)	missense	probably benign	0.05
R6974:Pla2g4c	UTSW	7	13,078,459 (GRCm39)	critical splice donor site	probably null
R7257:Pla2g4c	UTSW	7	13,059,669 (GRCm39)	missense	possibly damaging	0.46
R7823:Pla2g4c	UTSW	7	13,063,944 (GRCm39)	missense	probably damaging	1.00
R8385:Pla2g4c	UTSW	7	13,063,589 (GRCm39)	missense	probably benign	0.00
R8737:Pla2g4c	UTSW	7	13,069,154 (GRCm39)	missense	probably benign	0.15
R8933:Pla2g4c	UTSW	7	13,073,627 (GRCm39)	missense	probably benign	0.25
R9086:Pla2g4c	UTSW	7	13,071,692 (GRCm39)	missense	probably benign	0.13
R9121:Pla2g4c	UTSW	7	13,091,010 (GRCm39)	missense	probably damaging	0.99
R9226:Pla2g4c	UTSW	7	13,059,671 (GRCm39)	missense	possibly damaging	0.83
R9456:Pla2g4c	UTSW	7	13,077,900 (GRCm39)	missense	probably damaging	1.00
Z1088:Pla2g4c	UTSW	7	13,063,678 (GRCm39)	missense	probably benign	0.13
Z1177:Pla2g4c	UTSW	7	13,082,252 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- ACAGTGGTCTCTTGGACTCTTACCC -3'
(R):5'- TGAGCATCCTATCCTGAAAGCCCC -3'

Sequencing Primer
(F):5'- ttactcctgtaagttgtcctctg -3'
(R):5'- CTTCTGGGTCTCCCAAAAGG -3'

Posted On

2014-05-23