Mutagenetix > Incidental Mutation

Incidental Mutation 'R7097:Pla2g5'

550548

Institutional Source

Beutler Lab

Gene Symbol

Pla2g5

Ensembl Gene

ENSMUSG00000041193

Gene Name

phospholipase A2, group V

Synonyms

sPLA2

MMRRC Submission

045189-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.132) question?

Stock #

R7097 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

138526558-138590780 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 138531830 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 58 (D58G)

Ref Sequence

ENSEMBL: ENSMUSP00000030524 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030524] [ENSMUST00000102511] [ENSMUST00000102512] [ENSMUST00000102513]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000030524
AA Change: D58G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030524
Gene: ENSMUSG00000041193
AA Change: D58G

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
PA2c	21	137	1.16e-52	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000102511
AA Change: D58G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099569
Gene: ENSMUSG00000041193
AA Change: D58G

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
PA2c	21	137	1.16e-52	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000102512
AA Change: D58G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099570
Gene: ENSMUSG00000041193
AA Change: D58G

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
PA2c	21	137	1.16e-52	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000102513
AA Change: D58G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099571
Gene: ENSMUSG00000041193
AA Change: D58G

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
PA2c	21	137	1.16e-52	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (75/76)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the secretory phospholipase A2 family. It is located in a tightly-linked cluster of secretory phospholipase A2 genes on chromosome 1. The encoded enzyme catalyzes the hydrolysis of membrane phospholipids to generate lysophospholipids and free fatty acids including arachidonic acid. It preferentially hydrolyzes linoleoyl-containing phosphatidylcholine substrates. Secretion of this enzyme is thought to induce inflammatory responses in neighboring cells. Alternatively spliced transcript variants have been found, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display reduced acute zymosan-induced peritonitis and arachadonic acid metabolite release from stimulated peritoneal macrophages. Mice homozygous for a different knock-out allele exhibit reduced response to myocardial ischemia/reperfusion injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	A	G	17: 9,224,052 (GRCm39)	N435S	probably damaging	Het
Aip	A	T	19: 4,165,381 (GRCm39)	V195E	probably benign	Het
Amer3	A	T	1: 34,627,869 (GRCm39)	I703F	probably benign	Het
Amfr	T	C	8: 94,738,637 (GRCm39)	E7G	probably benign	Het
Angel1	A	G	12: 86,773,158 (GRCm39)	S4P	probably damaging	Het
Atp2c1	A	G	9: 105,341,850 (GRCm39)	I146T	probably damaging	Het
Atp6v0e	A	G	17: 26,914,390 (GRCm39)	T72A	probably benign	Het
Bahcc1	T	C	11: 120,163,472 (GRCm39)	V590A	possibly damaging	Het
Bcl6	A	G	16: 23,791,364 (GRCm39)	V330A	possibly damaging	Het
Bcl6	T	C	16: 23,791,652 (GRCm39)	D234G	probably damaging	Het
Btaf1	C	T	19: 36,926,502 (GRCm39)	T58I	probably damaging	Het
Ccdc175	A	T	12: 72,175,183 (GRCm39)		probably null	Het
Cdca4	C	A	12: 112,785,189 (GRCm39)	V180L	probably benign	Het
Ces1g	C	A	8: 94,043,665 (GRCm39)	G425C	possibly damaging	Het
Chl1	T	C	6: 103,683,409 (GRCm39)	L745P	probably damaging	Het
Clec4g	T	A	8: 3,769,518 (GRCm39)	T42S	possibly damaging	Het
Ctsg	A	C	14: 56,337,489 (GRCm39)	I238S	probably damaging	Het
Cyb5rl	A	T	4: 106,944,513 (GRCm39)	E41V	unknown	Het
Dcdc2a	A	G	13: 25,291,681 (GRCm39)	E222G	probably benign	Het
Dnaaf1	G	T	8: 120,323,538 (GRCm39)	G509V	possibly damaging	Het
Dnah5	A	G	15: 28,453,410 (GRCm39)	I4394V	probably benign	Het
Dot1l	T	G	10: 80,626,560 (GRCm39)	S1260R	probably damaging	Het
Dst	T	G	1: 34,208,341 (GRCm39)	I1089S	probably damaging	Het
Efcab3	A	T	11: 104,899,787 (GRCm39)	I4350F	possibly damaging	Het
Eps8l3	A	G	3: 107,791,801 (GRCm39)		probably null	Het
Fam135b	A	G	15: 71,493,917 (GRCm39)	V4A	possibly damaging	Het
Fnip2	T	C	3: 79,388,313 (GRCm39)	E806G	probably benign	Het
Fryl	T	A	5: 73,231,251 (GRCm39)	I1609F	probably benign	Het
Gdi1	G	A	X: 73,350,461 (GRCm39)	R55H	probably benign	Het
Gsn	A	T	2: 35,185,061 (GRCm39)	K339*	probably null	Het
Hecw2	T	A	1: 53,904,283 (GRCm39)	Y1155F	possibly damaging	Het
Kif20b	T	A	19: 34,951,892 (GRCm39)	N1723K	probably damaging	Het
Kif2b	T	C	11: 91,467,650 (GRCm39)	D211G	probably benign	Het
Lhfpl4	C	T	6: 113,153,632 (GRCm39)	V140I	probably benign	Het
Med16	C	T	10: 79,739,177 (GRCm39)	G203D	probably damaging	Het
Mrgpra3	T	A	7: 47,239,389 (GRCm39)	Y179F	probably benign	Het
Muc6	AGGCGCAGAAACCCTGGC	AGGC	7: 141,214,363 (GRCm39)		probably null	Het
Myo18b	A	G	5: 113,022,271 (GRCm39)	S374P	unknown	Het
Myoz1	A	G	14: 20,699,477 (GRCm39)	I287T	possibly damaging	Het
Ncoa6	T	C	2: 155,279,983 (GRCm39)	D11G	probably benign	Het
Nlrp9c	A	G	7: 26,085,046 (GRCm39)	Y178H	probably damaging	Het
Nmur1	T	C	1: 86,315,230 (GRCm39)	T212A	probably damaging	Het
Oacyl	A	G	18: 65,853,323 (GRCm39)	D143G	probably benign	Het
Obox5	A	G	7: 15,492,732 (GRCm39)	Y229C	probably damaging	Het
Or10d1c	A	T	9: 38,893,914 (GRCm39)	M142K	probably benign	Het
Or1j12	A	G	2: 36,342,702 (GRCm39)	Y35C	probably damaging	Het
Or1j18	G	T	2: 36,624,436 (GRCm39)	M34I	probably benign	Het
Or1x2	C	A	11: 50,918,428 (GRCm39)	L200I	probably benign	Het
Or8c13	A	T	9: 38,091,632 (GRCm39)	C162*	probably null	Het
Pcdhb17	A	C	18: 37,619,566 (GRCm39)	N452T	probably benign	Het
Pear1	T	G	3: 87,658,752 (GRCm39)	H901P	probably benign	Het
Peds1	C	G	2: 167,503,398 (GRCm39)	A7P	probably benign	Het
Pi16	A	G	17: 29,545,313 (GRCm39)	Y192C	probably damaging	Het
Pip5k1b	T	G	19: 24,335,424 (GRCm39)	E362D	probably damaging	Het
Pole	T	A	5: 110,472,968 (GRCm39)		probably null	Het
Prdm16	G	T	4: 154,429,925 (GRCm39)	T348K	probably damaging	Het
Prkdc	T	A	16: 15,507,207 (GRCm39)	F896I	probably damaging	Het
Prmt7	T	C	8: 106,961,732 (GRCm39)	F215S	unknown	Het
Prss23	T	A	7: 89,159,392 (GRCm39)	T226S	probably damaging	Het
Ptpn14	G	A	1: 189,595,595 (GRCm39)	W739*	probably null	Het
Rfx5	G	T	3: 94,863,850 (GRCm39)	G135C	probably damaging	Het
Scmh1	A	G	4: 120,382,252 (GRCm39)	H573R	probably benign	Het
Serpina5	G	T	12: 104,068,554 (GRCm39)		probably null	Het
Sh3rf2	G	A	18: 42,237,227 (GRCm39)		probably null	Het
Slc38a2	T	C	15: 96,591,182 (GRCm39)	M229V	probably damaging	Het
Slc6a17	C	G	3: 107,400,464 (GRCm39)	G222R	probably damaging	Het
Sp110	C	T	1: 85,507,406 (GRCm39)	G367D	possibly damaging	Het
Srcap	C	A	7: 127,138,213 (GRCm39)	L1128M	probably damaging	Het
Tpra1	T	A	6: 88,885,276 (GRCm39)	I76N	probably damaging	Het
Trav6-4	A	T	14: 53,692,049 (GRCm39)	Y52F	probably benign	Het
Trp63	C	A	16: 25,639,227 (GRCm39)	H138Q	probably damaging	Het
Trub2	A	G	2: 29,669,838 (GRCm39)	V177A	possibly damaging	Het
Ugt2a2	T	C	5: 87,608,255 (GRCm39)	D528G	possibly damaging	Het
Wnk2	C	A	13: 49,256,314 (GRCm39)	R269L	possibly damaging	Het
Zc3h12c	T	A	9: 52,027,226 (GRCm39)	Q731L	possibly damaging	Het

Other mutations in Pla2g5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03304:Pla2g5	APN	4	138,531,880 (GRCm39)	nonsense	probably null
R0278:Pla2g5	UTSW	4	138,527,967 (GRCm39)	missense	probably benign	0.40
R0323:Pla2g5	UTSW	4	138,527,967 (GRCm39)	missense	probably benign	0.40
R0325:Pla2g5	UTSW	4	138,527,967 (GRCm39)	missense	probably benign	0.40
R3767:Pla2g5	UTSW	4	138,528,746 (GRCm39)	missense	probably damaging	1.00
R3768:Pla2g5	UTSW	4	138,528,746 (GRCm39)	missense	probably damaging	1.00
R3769:Pla2g5	UTSW	4	138,528,746 (GRCm39)	missense	probably damaging	1.00
R3770:Pla2g5	UTSW	4	138,528,746 (GRCm39)	missense	probably damaging	1.00
R5620:Pla2g5	UTSW	4	138,531,921 (GRCm39)	missense	possibly damaging	0.83
R6776:Pla2g5	UTSW	4	138,527,964 (GRCm39)	missense	probably benign	0.00
R7065:Pla2g5	UTSW	4	138,527,915 (GRCm39)	missense	probably damaging	1.00
R7122:Pla2g5	UTSW	4	138,531,830 (GRCm39)	missense	probably damaging	1.00
R7829:Pla2g5	UTSW	4	138,531,845 (GRCm39)	missense	probably benign	0.26
R8293:Pla2g5	UTSW	4	138,531,917 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATCCAGAAAGCCTTGGCTTTAC -3'
(R):5'- TTCTGTTCCAGGCTGCATGC -3'

Sequencing Primer
(F):5'- GCGCACAGTTTTAGTCTCAGGAC -3'
(R):5'- AGGCTGCATGCTGTCATC -3'

Posted On

2019-05-15