Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02980:Pla2r1'

392127

Institutional Source

Beutler Lab

Gene Symbol

Pla2r1

Ensembl Gene

ENSMUSG00000054580

Gene Name

phospholipase A2 receptor 1

Synonyms

PLA2-I receptor, M-type receptor, Pla2g1br

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02980 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

60247887-60383652 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60345390 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 322 (E322G)

Ref Sequence

ENSEMBL: ENSMUSP00000108144 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112525]

AlphaFold

Q62028

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067708
AA Change: E322G

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000065205
Gene: ENSMUSG00000054580
AA Change: E322G

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
RICIN	42	154	2.98e-16	SMART
FN2	174	222	1.17e-25	SMART
CLECT	232	357	7.66e-30	SMART
CLECT	380	504	1.88e-29	SMART
CLECT	517	644	5.42e-21	SMART
CLECT	664	797	3.58e-21	SMART
CLECT	812	938	7.55e-20	SMART
CLECT	957	1096	5.05e-30	SMART
CLECT	1113	1232	4.72e-21	SMART
CLECT	1246	1377	1.44e-25	SMART
transmembrane domain	1397	1419	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112525
AA Change: E322G

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000108144
Gene: ENSMUSG00000054580
AA Change: E322G

Domain	Start	End	E-Value	Type
low complexity region	35	62	N/A	INTRINSIC
RICIN	77	189	2.98e-16	SMART
FN2	209	257	1.17e-25	SMART
CLECT	267	392	7.66e-30	SMART
CLECT	415	539	1.88e-29	SMART
CLECT	552	679	5.42e-21	SMART
CLECT	699	832	3.58e-21	SMART
CLECT	847	973	7.55e-20	SMART
CLECT	992	1131	5.05e-30	SMART
CLECT	1148	1267	4.72e-21	SMART
CLECT	1281	1412	1.44e-25	SMART
transmembrane domain	1432	1454	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128208

Meta Mutation Damage Score

0.1258

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

97% (35/36)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene represents a phospholipase A2 receptor. The encoded protein likely exists as both a transmembrane form and a soluble form. The transmembrane receptor may play a role in clearance of phospholipase A2, thereby inhibiting its action. Polymorphisms at this locus have been associated with susceptibility to idiopathic membranous nephropathy. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]
PHENOTYPE: Homozygous null mice are viable and fertile with no overt abnormalities. These mice are more resistant to toxic effects of lipopolysaccharide than controls, suggesting a role for this gene in the progression of endotoxic shock. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1b	A	G	15: 101,100,959 (GRCm39)	R374G	probably damaging	Het
Adam28	A	T	14: 68,857,255 (GRCm39)	S584T	probably benign	Het
Akap1	A	T	11: 88,735,990 (GRCm39)	I224N	probably benign	Het
Ankdd1b	C	T	13: 96,572,448 (GRCm39)	R214Q	probably benign	Het
Armt1	A	G	10: 4,400,643 (GRCm39)		probably benign	Het
C1rl	T	C	6: 124,485,487 (GRCm39)	I286T	probably benign	Het
Cdh23	T	C	10: 60,150,399 (GRCm39)	T2528A	probably damaging	Het
Col4a4	A	G	1: 82,447,198 (GRCm39)		probably null	Het
Dag1	A	G	9: 108,095,237 (GRCm39)	I85T	probably benign	Het
Elf2	A	G	3: 51,172,379 (GRCm39)	V86A	possibly damaging	Het
Emsy	T	C	7: 98,268,587 (GRCm39)	T485A	probably damaging	Het
Fam169a	T	C	13: 97,250,188 (GRCm39)		probably null	Het
Hsd17b4	A	G	18: 50,279,585 (GRCm39)	H188R	probably benign	Het
Ighv9-2	C	T	12: 114,072,839 (GRCm39)	V45M	probably damaging	Het
Kifbp	A	C	10: 62,394,947 (GRCm39)	L565W	probably damaging	Het
Lama3	C	T	18: 12,686,288 (GRCm39)	L2784F	probably benign	Het
Ms4a4c	G	T	19: 11,393,747 (GRCm39)	A64S	probably benign	Het
Nudt22	A	G	19: 6,970,500 (GRCm39)	L280P	probably damaging	Het
Oscar	T	C	7: 3,614,062 (GRCm39)		probably benign	Het
Paics	A	G	5: 77,114,102 (GRCm39)	I321V	probably benign	Het
Pappa	A	T	4: 65,226,011 (GRCm39)	H1288L	probably benign	Het
Poldip2	T	A	11: 78,412,054 (GRCm39)	M330K	probably damaging	Het
Potefam1	G	A	2: 110,994,818 (GRCm39)	H232Y	unknown	Het
Recql5	T	C	11: 115,784,770 (GRCm39)		probably null	Het
Rnf145	A	G	11: 44,452,484 (GRCm39)	M488V	probably benign	Het
Rrp1b	T	A	17: 32,269,013 (GRCm39)	D170E	possibly damaging	Het
Slamf7	T	C	1: 171,468,566 (GRCm39)	S109G	possibly damaging	Het
Slf1	A	G	13: 77,192,123 (GRCm39)	S904P	possibly damaging	Het
St7	C	A	6: 17,749,545 (GRCm39)		probably benign	Het
Stk25	A	G	1: 93,555,390 (GRCm39)	S102P	probably damaging	Het
Supt6	C	T	11: 78,116,548 (GRCm39)	A659T	probably damaging	Het
Tdrp	A	C	8: 14,003,918 (GRCm39)	S140A	probably damaging	Het
Thbs3	A	G	3: 89,130,451 (GRCm39)	N527D	probably benign	Het
Tsnaxip1	G	T	8: 106,568,842 (GRCm39)	V444L	probably damaging	Het
U2af2	A	G	7: 5,071,042 (GRCm39)	I116V	probably benign	Het
Zfp931	C	A	2: 177,711,409 (GRCm39)		probably null	Het

Other mutations in Pla2r1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00569:Pla2r1	APN	2	60,250,769 (GRCm39)	missense	probably benign
IGL00886:Pla2r1	APN	2	60,254,668 (GRCm39)	missense	probably damaging	1.00
IGL00928:Pla2r1	APN	2	60,365,424 (GRCm39)	missense	probably damaging	0.99
IGL01361:Pla2r1	APN	2	60,309,814 (GRCm39)	missense	probably damaging	1.00
IGL01403:Pla2r1	APN	2	60,254,632 (GRCm39)	missense	probably damaging	0.99
IGL01475:Pla2r1	APN	2	60,271,425 (GRCm39)	splice site	probably benign
IGL01517:Pla2r1	APN	2	60,334,597 (GRCm39)	missense	probably damaging	1.00
IGL01646:Pla2r1	APN	2	60,325,708 (GRCm39)	missense	probably damaging	1.00
IGL02208:Pla2r1	APN	2	60,258,932 (GRCm39)	missense	possibly damaging	0.81
IGL02301:Pla2r1	APN	2	60,282,780 (GRCm39)	missense	probably benign	0.01
IGL02522:Pla2r1	APN	2	60,259,013 (GRCm39)	missense	probably benign	0.11
IGL02688:Pla2r1	APN	2	60,285,545 (GRCm39)	missense	probably damaging	1.00
IGL02822:Pla2r1	APN	2	60,285,517 (GRCm39)	missense	probably damaging	1.00
IGL02850:Pla2r1	APN	2	60,332,413 (GRCm39)	missense	probably benign	0.03
IGL03233:Pla2r1	APN	2	60,258,924 (GRCm39)	missense	possibly damaging	0.63
IGL03350:Pla2r1	APN	2	60,285,517 (GRCm39)	missense	probably damaging	1.00
R0105:Pla2r1	UTSW	2	60,345,325 (GRCm39)	missense	possibly damaging	0.89
R0105:Pla2r1	UTSW	2	60,345,325 (GRCm39)	missense	possibly damaging	0.89
R0387:Pla2r1	UTSW	2	60,262,945 (GRCm39)	missense	probably benign	0.03
R0522:Pla2r1	UTSW	2	60,309,859 (GRCm39)	missense	probably benign	0.01
R0550:Pla2r1	UTSW	2	60,255,694 (GRCm39)	critical splice donor site	probably null
R0718:Pla2r1	UTSW	2	60,309,874 (GRCm39)	missense	possibly damaging	0.55
R0906:Pla2r1	UTSW	2	60,345,291 (GRCm39)	missense	possibly damaging	0.79
R0945:Pla2r1	UTSW	2	60,288,754 (GRCm39)	missense	possibly damaging	0.89
R1229:Pla2r1	UTSW	2	60,365,106 (GRCm39)	missense	probably benign	0.09
R1397:Pla2r1	UTSW	2	60,365,106 (GRCm39)	missense	probably benign	0.09
R1667:Pla2r1	UTSW	2	60,250,601 (GRCm39)	missense	probably benign	0.00
R1668:Pla2r1	UTSW	2	60,258,990 (GRCm39)	missense	probably damaging	0.99
R1694:Pla2r1	UTSW	2	60,271,428 (GRCm39)	critical splice donor site	probably null
R1864:Pla2r1	UTSW	2	60,259,055 (GRCm39)	missense	probably benign	0.01
R2029:Pla2r1	UTSW	2	60,262,317 (GRCm39)	missense	probably damaging	0.99
R2035:Pla2r1	UTSW	2	60,253,080 (GRCm39)	missense	probably damaging	1.00
R2207:Pla2r1	UTSW	2	60,288,779 (GRCm39)	missense	probably damaging	1.00
R2429:Pla2r1	UTSW	2	60,345,312 (GRCm39)	missense	probably damaging	1.00
R3196:Pla2r1	UTSW	2	60,353,127 (GRCm39)	missense	probably damaging	1.00
R3522:Pla2r1	UTSW	2	60,279,250 (GRCm39)	missense	probably damaging	1.00
R3973:Pla2r1	UTSW	2	60,279,306 (GRCm39)	missense	probably benign	0.30
R4006:Pla2r1	UTSW	2	60,353,217 (GRCm39)	missense	probably damaging	1.00
R4091:Pla2r1	UTSW	2	60,262,937 (GRCm39)	missense	probably damaging	1.00
R4158:Pla2r1	UTSW	2	60,252,966 (GRCm39)	missense	probably damaging	0.97
R4160:Pla2r1	UTSW	2	60,252,966 (GRCm39)	missense	probably damaging	0.97
R4168:Pla2r1	UTSW	2	60,327,958 (GRCm39)	nonsense	probably null
R4541:Pla2r1	UTSW	2	60,258,082 (GRCm39)	missense	probably damaging	1.00
R4712:Pla2r1	UTSW	2	60,258,994 (GRCm39)	missense	probably damaging	1.00
R4797:Pla2r1	UTSW	2	60,334,524 (GRCm39)	missense	possibly damaging	0.47
R4884:Pla2r1	UTSW	2	60,365,328 (GRCm39)	missense	probably damaging	1.00
R4923:Pla2r1	UTSW	2	60,253,056 (GRCm39)	missense	probably benign	0.31
R5017:Pla2r1	UTSW	2	60,353,104 (GRCm39)	splice site	probably null
R5116:Pla2r1	UTSW	2	60,279,250 (GRCm39)	missense	probably damaging	1.00
R5641:Pla2r1	UTSW	2	60,345,328 (GRCm39)	missense	probably damaging	1.00
R5807:Pla2r1	UTSW	2	60,259,065 (GRCm39)	missense	possibly damaging	0.78
R5898:Pla2r1	UTSW	2	60,253,104 (GRCm39)	missense	probably damaging	1.00
R6241:Pla2r1	UTSW	2	60,332,543 (GRCm39)	splice site	probably null
R6923:Pla2r1	UTSW	2	60,345,310 (GRCm39)	missense	probably benign	0.11
R7020:Pla2r1	UTSW	2	60,277,743 (GRCm39)	missense	possibly damaging	0.79
R7028:Pla2r1	UTSW	2	60,288,737 (GRCm39)	missense	probably damaging	0.98
R7257:Pla2r1	UTSW	2	60,257,969 (GRCm39)	critical splice donor site	probably null
R7291:Pla2r1	UTSW	2	60,360,779 (GRCm39)	missense	probably benign	0.43
R7350:Pla2r1	UTSW	2	60,288,723 (GRCm39)	missense	probably benign	0.02
R7451:Pla2r1	UTSW	2	60,365,346 (GRCm39)	missense	probably damaging	1.00
R7553:Pla2r1	UTSW	2	60,353,243 (GRCm39)	missense	possibly damaging	0.80
R7635:Pla2r1	UTSW	2	60,365,106 (GRCm39)	missense	probably benign	0.09
R7768:Pla2r1	UTSW	2	60,279,290 (GRCm39)	missense	probably benign	0.22
R7774:Pla2r1	UTSW	2	60,360,802 (GRCm39)	nonsense	probably null
R7782:Pla2r1	UTSW	2	60,334,531 (GRCm39)	missense	probably benign	0.01
R7832:Pla2r1	UTSW	2	60,334,536 (GRCm39)	missense	possibly damaging	0.79
R7843:Pla2r1	UTSW	2	60,277,819 (GRCm39)	missense	possibly damaging	0.88
R7900:Pla2r1	UTSW	2	60,258,858 (GRCm39)	missense	possibly damaging	0.94
R8010:Pla2r1	UTSW	2	60,345,304 (GRCm39)	missense	probably benign	0.00
R8129:Pla2r1	UTSW	2	60,262,944 (GRCm39)	missense	probably damaging	1.00
R8336:Pla2r1	UTSW	2	60,253,027 (GRCm39)	missense	possibly damaging	0.88
R8347:Pla2r1	UTSW	2	60,365,247 (GRCm39)	missense	probably damaging	0.98
R8359:Pla2r1	UTSW	2	60,273,627 (GRCm39)	missense	probably benign	0.00
R8682:Pla2r1	UTSW	2	60,253,120 (GRCm39)	missense	possibly damaging	0.89
R8845:Pla2r1	UTSW	2	60,259,053 (GRCm39)	missense	possibly damaging	0.52
R8901:Pla2r1	UTSW	2	60,332,400 (GRCm39)	missense
R9085:Pla2r1	UTSW	2	60,255,791 (GRCm39)	missense	probably damaging	0.99
R9130:Pla2r1	UTSW	2	60,325,729 (GRCm39)	intron	probably benign
R9140:Pla2r1	UTSW	2	60,271,455 (GRCm39)	missense	probably benign	0.10
R9399:Pla2r1	UTSW	2	60,282,744 (GRCm39)	critical splice donor site	probably null
R9449:Pla2r1	UTSW	2	60,258,902 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGGGGACATGTCAACAACC -3'
(R):5'- GGGATGTCAAAGATAGACTGCC -3'

Sequencing Primer
(F):5'- TGTCAACAACCAAAGGATGACTG -3'
(R):5'- GATGTCAAAGATAGACTGCCATTTTC -3'

Posted On

2016-06-09