Mutagenetix > Incidental Mutation

Incidental Mutation 'R0906:Pla2r1'

83314

Institutional Source

Beutler Lab

Gene Symbol

Pla2r1

Ensembl Gene

ENSMUSG00000054580

Gene Name

phospholipase A2 receptor 1

Synonyms

PLA2-I receptor, M-type receptor, Pla2g1br

MMRRC Submission

039064-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0906 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

60247887-60383652 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 60345291 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 355 (I355T)

Ref Sequence

ENSEMBL: ENSMUSP00000108144 (fasta)

Gene Model

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

AlphaFold

Q62028

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112525
AA Change: I355T

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000108144
Gene: ENSMUSG00000054580
AA Change: I355T

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

0.4787

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.3%

Validation Efficiency

100% (33/33)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	T	A	1: 130,665,430 (GRCm39)		probably benign	Het
Atp7b	T	C	8: 22,517,842 (GRCm39)	H332R	probably benign	Het
Bace2	C	T	16: 97,158,141 (GRCm39)	P47L	possibly damaging	Het
Cyp2c39	A	G	19: 39,499,315 (GRCm39)	M1V	probably null	Het
Dcbld2	A	G	16: 58,275,610 (GRCm39)	E442G	probably damaging	Het
Gm14496	A	G	2: 181,642,308 (GRCm39)	T660A	probably damaging	Het
Gm4945	A	C	17: 47,353,796 (GRCm39)		noncoding transcript	Het
Gm6729	T	C	10: 86,376,456 (GRCm39)		noncoding transcript	Het
Golga1	G	A	2: 38,937,655 (GRCm39)	R204W	probably damaging	Het
Guf1	T	C	5: 69,723,729 (GRCm39)	I348T	probably damaging	Het
Htra4	T	A	8: 25,527,160 (GRCm39)	I212L	probably benign	Het
Itih5	G	A	2: 10,253,999 (GRCm39)	R750Q	probably benign	Het
Lgalsl2	T	C	7: 5,362,828 (GRCm39)	I153T	probably damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Naip2	C	T	13: 100,298,368 (GRCm39)	G556D	probably benign	Het
Naip2	T	C	13: 100,298,362 (GRCm39)	E558G	probably benign	Het
Nsd1	T	C	13: 55,425,403 (GRCm39)	V1520A	probably benign	Het
Nuak1	C	T	10: 84,211,144 (GRCm39)	V315I	probably damaging	Het
Nup205	G	T	6: 35,213,827 (GRCm39)	G1740C	probably damaging	Het
Or1r1	G	C	11: 73,874,685 (GRCm39)	L250V	probably damaging	Het
Pclo	T	C	5: 14,726,700 (GRCm39)		probably benign	Het
Pik3r6	T	C	11: 68,426,927 (GRCm39)		probably benign	Het
Pikfyve	T	A	1: 65,292,556 (GRCm39)	F1336I	probably damaging	Het
Rgs22	A	T	15: 36,104,048 (GRCm39)		probably benign	Het
Sec63	T	A	10: 42,677,924 (GRCm39)	M312K	probably damaging	Het
Slc2a5	T	C	4: 150,227,287 (GRCm39)	I401T	probably benign	Het
Slc9a8	G	T	2: 167,276,787 (GRCm39)		probably benign	Het
Stab1	T	C	14: 30,867,206 (GRCm39)	E1718G	probably benign	Het
Terb1	A	T	8: 105,179,268 (GRCm39)	I640N	probably damaging	Het
Tmem217	A	G	17: 29,745,490 (GRCm39)	L80P	probably damaging	Het
Topbp1	C	T	9: 103,205,792 (GRCm39)	P810L	probably benign	Het
Ttbk2	G	A	2: 120,614,262 (GRCm39)	R151C	probably damaging	Het
Vmn2r88	T	G	14: 51,655,666 (GRCm39)	L626R	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
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
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
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'- GGACAGGAATGTTGACTCGGCTAATG -3'
(R):5'- AAGGGCTACCTTCTGTGCTGCAAG -3'

Sequencing Primer
(F):5'- GCATGGTACTTCAGGATGGC -3'
(R):5'- CTGTGCTGCAAGCATTTCTG -3'

Posted On

2013-11-08