Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00886:Pla2r1'

26806

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL00886

Quality Score

Status

Chromosome

Chromosomal Location

60247887-60383652 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 60254668 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 1300 (E1300V)

Ref Sequence

ENSEMBL: ENSMUSP00000108144 (fasta)

Gene Model

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

AlphaFold

Q62028

Predicted Effect

probably damaging
Transcript: ENSMUST00000112525
AA Change: E1300V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000108144
Gene: ENSMUSG00000054580
AA Change: E1300V

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: ENSMUST00000126327

Coding Region Coverage

Validation Efficiency

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	C	T	11: 110,054,101 (GRCm39)	R67H	possibly damaging	Het
Ak4	G	T	4: 101,304,386 (GRCm39)	E59*	probably null	Het
Ano10	T	C	9: 122,100,390 (GRCm39)	N116S	probably benign	Het
Arid1b	T	A	17: 5,177,254 (GRCm39)	H658Q	probably damaging	Het
Atf2	G	A	2: 73,675,847 (GRCm39)	T208I	possibly damaging	Het
Bco1	T	C	8: 117,857,376 (GRCm39)	W448R	probably damaging	Het
Cel	A	T	2: 28,449,397 (GRCm39)	C277S	probably damaging	Het
Chd5	T	A	4: 152,444,156 (GRCm39)	D296E	probably benign	Het
Crygd	C	T	1: 65,101,250 (GRCm39)	R115Q	probably benign	Het
Fmo9	T	C	1: 166,507,714 (GRCm39)		probably null	Het
Gdpgp1	T	G	7: 79,889,100 (GRCm39)	L377R	probably damaging	Het
Gm26938	T	A	5: 139,812,091 (GRCm39)	D3V	probably damaging	Het
Gpld1	T	A	13: 25,146,336 (GRCm39)	Y193*	probably null	Het
Gtf2h4	T	C	17: 35,980,874 (GRCm39)	H265R	probably damaging	Het
Hadh	G	T	3: 131,043,465 (GRCm39)	T83K	probably benign	Het
Hao1	T	C	2: 134,365,079 (GRCm39)	M183V	probably benign	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Ift88	T	C	14: 57,715,525 (GRCm39)	Y523H	probably damaging	Het
Il23r	G	T	6: 67,450,874 (GRCm39)	Q202K	possibly damaging	Het
Iyd	T	C	10: 3,540,444 (GRCm38)	D50A	probably benign	Het
Katnal2	A	T	18: 77,090,450 (GRCm39)	L248Q	probably damaging	Het
Krtap26-1	A	T	16: 88,444,267 (GRCm39)	V118E	possibly damaging	Het
Lzic	T	C	4: 149,577,753 (GRCm39)		probably null	Het
Meak7	T	C	8: 120,500,007 (GRCm39)		probably benign	Het
Mical2	T	A	7: 111,914,279 (GRCm39)	N316K	probably benign	Het
Ndufc2	T	A	7: 97,049,397 (GRCm39)	M1K	probably null	Het
Net1	A	G	13: 3,943,391 (GRCm39)		probably benign	Het
Or13g1	G	A	7: 85,956,259 (GRCm39)	L21F	probably damaging	Het
Pde1c	A	G	6: 56,150,659 (GRCm39)	Y287H	probably damaging	Het
Pitpnm1	T	C	19: 4,160,665 (GRCm39)		probably null	Het
Polr3g	T	C	13: 81,842,796 (GRCm39)	Y73C	probably damaging	Het
Ryr1	T	A	7: 28,723,654 (GRCm39)	E4137V	probably damaging	Het
Scrib	T	C	15: 75,920,643 (GRCm39)	D1425G	possibly damaging	Het
Slc25a12	A	G	2: 71,174,376 (GRCm39)	Y23H	possibly damaging	Het
Spef2	C	A	15: 9,663,181 (GRCm39)	G867W	probably damaging	Het
Strn3	A	T	12: 51,656,933 (GRCm39)	Y698N	probably damaging	Het
Ube3a	T	A	7: 58,934,485 (GRCm39)	F533I	probably damaging	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
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
IGL02980:Pla2r1	UTSW	2	60,345,390 (GRCm39)	missense	possibly damaging	0.77
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

Posted On

2013-04-17