Mutagenetix > Incidental Mutation

Incidental Mutation 'R4589:Pla2g2a'

342663

Institutional Source

Beutler Lab

Gene Symbol

Pla2g2a

Ensembl Gene

ENSMUSG00000058908

Gene Name

phospholipase A2, group IIA (platelets, synovial fluid)

Synonyms

EF, modifier of Min1, Enhancing factor

Accession Numbers

Essential gene?

Not available question?

Stock #

R4589 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

138559171-138562497 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 138560590 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 67 (Y67C)

Ref Sequence

ENSEMBL: ENSMUSP00000138550 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030524] [ENSMUST00000077582] [ENSMUST00000102513] [ENSMUST00000135748]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000030524

SMART Domains

Protein: ENSMUSP00000030524
Gene: ENSMUSG00000041193

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

Predicted Effect

probably benign
Transcript: ENSMUST00000077582
AA Change: T66A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000138200
Gene: ENSMUSG00000058908
AA Change: T66A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
PA2c	22	139	7.21e-58	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102513

SMART Domains

Protein: ENSMUSP00000099571
Gene: ENSMUSG00000041193

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134898

Predicted Effect

probably damaging
Transcript: ENSMUST00000135748
AA Change: Y67C

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

SMART Domains

Protein: ENSMUSP00000138550
Gene: ENSMUSG00000058908
AA Change: Y67C

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
PA2c	22	132	1.69e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147728

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	G	T	16: 14,211,895 (GRCm39)	V157L	probably benign	Het
Actn1	G	A	12: 80,218,573 (GRCm39)	T737I	possibly damaging	Het
Ada	T	C	2: 163,574,868 (GRCm39)	K90E	possibly damaging	Het
Ap2b1	T	A	11: 83,223,837 (GRCm39)	L184*	probably null	Het
Arfgef3	T	C	10: 18,521,947 (GRCm39)	D693G	probably damaging	Het
Arid4a	A	T	12: 71,116,738 (GRCm39)	I277F	probably damaging	Het
Armh4	A	G	14: 50,011,039 (GRCm39)	S223P	probably damaging	Het
Ccdc171	A	G	4: 83,467,855 (GRCm39)	S67G	probably benign	Het
Ccr5	T	A	9: 123,924,539 (GRCm39)	F47L	probably benign	Het
Clip4	T	A	17: 72,117,862 (GRCm39)	C302*	probably null	Het
Cyth1	C	T	11: 118,075,811 (GRCm39)	V142I	possibly damaging	Het
Ddx59	T	A	1: 136,367,480 (GRCm39)		probably null	Het
Def6	G	T	17: 28,447,121 (GRCm39)	R584L	probably benign	Het
Dnah7c	C	A	1: 46,553,743 (GRCm39)	Y340*	probably null	Het
Eif2ak4	T	G	2: 118,247,819 (GRCm39)	C173W	probably damaging	Het
Gm14403	C	T	2: 177,200,428 (GRCm39)	H125Y	probably benign	Het
Grk3	T	C	5: 113,089,584 (GRCm39)	I323V	possibly damaging	Het
Homez	G	T	14: 55,094,487 (GRCm39)	T407K	probably damaging	Het
Igdcc4	A	G	9: 65,037,910 (GRCm39)	T763A	probably damaging	Het
Ighg2b	A	T	12: 113,270,104 (GRCm39)	W305R	unknown	Het
Il27ra	G	T	8: 84,763,038 (GRCm39)	N296K	probably damaging	Het
Lzic	G	T	4: 149,572,561 (GRCm39)	L50F	probably damaging	Het
Mbtd1	T	C	11: 93,812,245 (GRCm39)	V183A	probably damaging	Het
Mme	T	A	3: 63,287,693 (GRCm39)	D731E	probably benign	Het
Mocos	T	C	18: 24,787,095 (GRCm39)	L38P	probably damaging	Het
Mrps18a	T	C	17: 46,428,899 (GRCm39)		probably null	Het
Msh2	T	A	17: 87,987,460 (GRCm39)	V200D	possibly damaging	Het
Mug1	A	T	6: 121,834,310 (GRCm39)	I364F	probably benign	Het
Mycbp2	G	T	14: 103,414,749 (GRCm39)	S2554R	probably benign	Het
Nat10	A	G	2: 103,584,415 (GRCm39)	C121R	probably damaging	Het
Nfatc3	T	A	8: 106,805,705 (GRCm39)	D183E	probably damaging	Het
Odr4	C	T	1: 150,260,238 (GRCm39)	V127I	probably benign	Het
Or4d10c	T	C	19: 12,065,305 (GRCm39)	I284V	possibly damaging	Het
Or51ac3	A	T	7: 103,213,639 (GRCm39)	F282L	probably damaging	Het
Or52h1	C	A	7: 103,828,636 (GRCm39)		probably null	Het
Or5d14	T	C	2: 87,880,823 (GRCm39)	I48M	probably benign	Het
Pak6	T	A	2: 118,527,021 (GRCm39)	I672K	probably damaging	Het
Pan3	A	T	5: 147,479,983 (GRCm39)	I830F	probably damaging	Het
Pcdh9	A	T	14: 94,125,628 (GRCm39)	L181I	probably damaging	Het
Pigg	G	A	5: 108,480,556 (GRCm39)	A447T	probably benign	Het
Pitpnb	T	A	5: 111,519,214 (GRCm39)	S165T	probably damaging	Het
Plch1	A	G	3: 63,688,928 (GRCm39)	I80T	probably damaging	Het
Pnma1	A	G	12: 84,194,235 (GRCm39)	I156T	probably benign	Het
Prss21	G	T	17: 24,091,796 (GRCm39)	D255Y	possibly damaging	Het
Prune1	T	A	3: 95,169,642 (GRCm39)	I187F	possibly damaging	Het
Rab7b	T	C	1: 131,633,385 (GRCm39)	F78L	probably benign	Het
Riok3	T	A	18: 12,269,844 (GRCm39)	Y92N	probably benign	Het
Rpap2	T	C	5: 107,768,361 (GRCm39)	S400P	probably benign	Het
Ryr3	C	A	2: 112,705,478 (GRCm39)	G792V	probably damaging	Het
Septin3	A	G	15: 82,170,092 (GRCm39)	E206G	probably damaging	Het
Stkld1	T	C	2: 26,840,679 (GRCm39)	S454P	probably damaging	Het
Tdh	A	T	14: 63,733,326 (GRCm39)	L140Q	probably damaging	Het
Tex15	T	A	8: 34,047,401 (GRCm39)	H159Q	probably damaging	Het
Tmed6	C	T	8: 107,790,793 (GRCm39)	V85I	probably benign	Het
Vmn1r174	T	A	7: 23,454,204 (GRCm39)	L290*	probably null	Het
Vmn1r31	A	G	6: 58,449,596 (GRCm39)	S90P	probably damaging	Het
Vmn2r55	T	C	7: 12,404,822 (GRCm39)	T194A	probably damaging	Het
Vmn2r82	A	T	10: 79,192,548 (GRCm39)	I42F	probably damaging	Het
Vps35	G	A	8: 86,014,331 (GRCm39)	P106L	probably damaging	Het
Xrcc6	T	A	15: 81,906,661 (GRCm39)	Y69N	probably damaging	Het
Zbtb14	C	T	17: 69,695,465 (GRCm39)	P388S	probably damaging	Het
Zfp541	C	T	7: 15,817,261 (GRCm39)	A902V	probably benign	Het

Other mutations in Pla2g2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02874:Pla2g2a	APN	4	138,562,159 (GRCm39)	missense	probably benign	0.01
R2425:Pla2g2a	UTSW	4	138,560,229 (GRCm39)	missense	possibly damaging	0.95
R5158:Pla2g2a	UTSW	4	138,560,595 (GRCm39)	makesense	probably null
R5742:Pla2g2a	UTSW	4	138,560,653 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- ACTAGGAGGGAACTGGTACC -3'
(R):5'- TGTGAGGTTCTTACAGCAGG -3'

Sequencing Primer
(F):5'- GGGAACTGGTACCCACTACCTC -3'
(R):5'- GGTTCTTACAGCAGGGATAAATTCC -3'

Posted On

2015-09-24