Mutagenetix > Incidental Mutation

Incidental Mutation 'R8336:Pla2r1'

644602

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

067729-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8336 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

60247887-60383652 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 60253027 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 1355 (V1355F)

Ref Sequence

ENSEMBL: ENSMUSP00000108144 (fasta)

Gene Model

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

AlphaFold

Q62028

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112525
AA Change: V1355F

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108144
Gene: ENSMUSG00000054580
AA Change: V1355F

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	T	C	14: 64,223,545 (GRCm39)	K77R	probably benign	Het
Acta1	C	T	8: 124,619,310 (GRCm39)	E261K	possibly damaging	Het
Adamts19	A	T	18: 59,140,444 (GRCm39)	I848L	possibly damaging	Het
Adck1	C	A	12: 88,335,249 (GRCm39)	T45K	probably damaging	Het
Agl	A	G	3: 116,566,495 (GRCm39)	F291S		Het
BC048671	T	C	6: 90,279,849 (GRCm39)	V24A	probably benign	Het
Brsk2	C	T	7: 141,538,211 (GRCm39)	A119V	probably damaging	Het
Cacnb1	A	G	11: 97,894,119 (GRCm39)	Y468H	probably benign	Het
Cep89	A	T	7: 35,127,141 (GRCm39)	K501*	probably null	Het
Ces2a	T	A	8: 105,465,665 (GRCm39)	F306I	probably damaging	Het
Col6a4	T	A	9: 105,952,528 (GRCm39)	I457F	possibly damaging	Het
Cts7	A	G	13: 61,504,723 (GRCm39)		probably null	Het
Dnah12	C	A	14: 26,432,220 (GRCm39)	T444K	probably benign	Het
Dusp5	T	C	19: 53,529,406 (GRCm39)	S270P	probably damaging	Het
Eppk1	T	TCAC	15: 75,992,152 (GRCm39)		probably null	Het
Esam	T	A	9: 37,448,362 (GRCm39)	I267K	probably benign	Het
Fastkd1	A	G	2: 69,542,489 (GRCm39)	V106A	probably damaging	Het
Fsip2	A	G	2: 82,821,099 (GRCm39)	T5611A	possibly damaging	Het
Gcc2	A	G	10: 58,108,189 (GRCm39)	D933G	probably damaging	Het
Gm16506	T	A	14: 43,964,825 (GRCm39)	H39L		Het
Gm5145	A	T	17: 20,790,687 (GRCm39)	N22Y	probably damaging	Het
Gm6465	A	T	5: 11,896,780 (GRCm39)	R50W	probably damaging	Het
Hivep1	C	A	13: 42,309,405 (GRCm39)	D548E	probably benign	Het
Hnrnpl	C	A	7: 28,513,462 (GRCm39)	S178R	possibly damaging	Het
Hsp90b1	A	G	10: 86,526,968 (GRCm39)	*803Q	probably null	Het
Kdm5a	A	G	6: 120,396,407 (GRCm39)	N1088S	probably benign	Het
Klk1b11	C	T	7: 43,425,865 (GRCm39)		probably benign	Het
Kmt5b	T	C	19: 3,865,531 (GRCm39)	I865T	probably damaging	Het
Map3k10	C	A	7: 27,372,884 (GRCm39)	R189L	probably benign	Het
Nav3	A	G	10: 109,603,430 (GRCm39)	S1040P	probably damaging	Het
Neb	T	C	2: 52,163,902 (GRCm39)	S2019G	probably damaging	Het
Nfrkb	T	C	9: 31,314,815 (GRCm39)	V545A	possibly damaging	Het
Nkd2	G	T	13: 73,969,192 (GRCm39)	P425T	probably damaging	Het
Or5h26	T	C	16: 58,987,918 (GRCm39)	Y196C	possibly damaging	Het
Ostm1	A	G	10: 42,572,334 (GRCm39)	Y239C	probably damaging	Het
Pabpc1l	A	G	2: 163,874,204 (GRCm39)	D203G	probably benign	Het
Pcdhb21	T	A	18: 37,648,942 (GRCm39)	Y690*	probably null	Het
Pms1	C	T	1: 53,245,985 (GRCm39)	S518N	probably benign	Het
Rab44	A	T	17: 29,367,249 (GRCm39)	*726C	probably null	Het
Rin1	A	T	19: 5,105,013 (GRCm39)	H691L	possibly damaging	Het
Slc30a9	T	A	5: 67,473,058 (GRCm39)	Y47*	probably null	Het
Sp9	T	A	2: 73,104,796 (GRCm39)	V450D	possibly damaging	Het
Sstr3	T	C	15: 78,424,693 (GRCm39)	N18S	probably damaging	Het
Sugct	T	A	13: 17,032,504 (GRCm39)	Y416F	probably benign	Het
Tcf3	T	C	10: 80,257,000 (GRCm39)	T75A	probably benign	Het
Tenm3	A	G	8: 48,746,808 (GRCm39)	V999A	probably damaging	Het
Tfap2c	T	A	2: 172,399,112 (GRCm39)	L453*	probably null	Het
Trip12	A	T	1: 84,743,762 (GRCm39)	M515K	probably benign	Het
Vstm2a	G	A	11: 16,207,801 (GRCm39)		probably benign	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
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
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'- ATCTTAGAGGAGCTGAGATGTTCTG -3'
(R):5'- GGCTGCTTTAAGGACTGATCC -3'

Sequencing Primer
(F):5'- AGCTGAGATGTTCTGACGTG -3'
(R):5'- AAGGTGGTTTGACGGAAC -3'

Posted On

2020-09-02