Mutagenetix > Incidental Mutation

Incidental Mutation 'R9399:Pla2r1'

710977

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9399 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

60247887-60383652 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 60282744 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000108144 (fasta)

Gene Model

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

AlphaFold

Q62028

Predicted Effect

probably null
Transcript: ENSMUST00000112525

SMART Domains

Protein: ENSMUSP00000108144
Gene: ENSMUSG00000054580

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: 99.7%
20x: 98.9%

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
3425401B19Rik	A	C	14: 32,384,615 (GRCm39)	L450R	probably damaging	Het
4933427I04Rik	T	A	4: 123,754,413 (GRCm39)	L109*	probably null	Het
Amotl2	T	C	9: 102,606,531 (GRCm39)	L576P	probably damaging	Het
Ankrd11	T	C	8: 123,618,179 (GRCm39)	N1891S	probably benign	Het
Arap2	T	A	5: 62,763,455 (GRCm39)	H1563L	possibly damaging	Het
Astn2	T	C	4: 65,664,588 (GRCm39)	T732A	possibly damaging	Het
Atp2b2	A	G	6: 113,780,713 (GRCm39)	I312T	probably benign	Het
Bcl9	C	T	3: 97,113,289 (GRCm39)	M1055I	probably benign	Het
Carm1	A	G	9: 21,486,791 (GRCm39)	N180D	possibly damaging	Het
Cd180	A	T	13: 102,842,021 (GRCm39)	T356S	probably benign	Het
Cdh18	A	C	15: 23,173,899 (GRCm39)	T38P	probably damaging	Het
Cdk7	G	T	13: 100,840,988 (GRCm39)	P308Q	probably damaging	Het
Chd5	C	T	4: 152,468,592 (GRCm39)	A1715V	probably benign	Het
Clptm1	A	T	7: 19,367,842 (GRCm39)	V590D	probably damaging	Het
Col18a1	C	T	10: 76,916,584 (GRCm39)	G364R	unknown	Het
Ddhd1	C	T	14: 45,895,117 (GRCm39)	G118R	possibly damaging	Het
Fgfr4	C	T	13: 55,304,293 (GRCm39)	T111M	probably damaging	Het
Fndc8	A	T	11: 82,788,739 (GRCm39)	T190S	probably damaging	Het
Foxp1	TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	6: 99,052,866 (GRCm39)		probably benign	Het
Glra3	T	A	8: 56,542,079 (GRCm39)	I274N	probably damaging	Het
Gpsm2	G	A	3: 108,590,090 (GRCm39)	R499*	probably null	Het
Gzme	T	A	14: 56,355,796 (GRCm39)	D172V	probably damaging	Het
Ift88	T	A	14: 57,717,385 (GRCm39)	D536E	probably benign	Het
Itih3	T	C	14: 30,643,335 (GRCm39)	T151A	probably benign	Het
Kctd7	T	C	5: 130,177,033 (GRCm39)	Y95H	probably damaging	Het
Lipe	A	T	7: 25,097,227 (GRCm39)	C239S	probably benign	Het
Lpcat3	T	C	6: 124,640,283 (GRCm39)	S38P	probably benign	Het
Mical2	C	T	7: 111,946,082 (GRCm39)	R1015C	probably damaging	Het
Midn	C	T	10: 79,992,210 (GRCm39)	R421*	probably null	Het
Mmp17	A	T	5: 129,671,686 (GRCm39)	K79*	probably null	Het
Or8b39	A	G	9: 37,997,020 (GRCm39)	H296R	probably benign	Het
Or8k16	G	C	2: 85,520,395 (GRCm39)	L207F	probably damaging	Het
Ppp1r3a	A	G	6: 14,755,010 (GRCm39)	V79A	probably damaging	Het
Prkd3	G	T	17: 79,264,719 (GRCm39)	P633H	probably damaging	Het
Prss40	T	A	1: 34,591,794 (GRCm39)	S294C	probably damaging	Het
Raph1	T	A	1: 60,565,154 (GRCm39)	Q111L	probably benign	Het
Rufy3	A	T	5: 88,797,725 (GRCm39)	N634I	possibly damaging	Het
Sel1l3	A	C	5: 53,265,486 (GRCm39)	V1102G	probably benign	Het
Sh2b1	AGCTCAGCC	AGCTCAGCCCCGGGGACCCGCTCAGCC	7: 126,066,750 (GRCm39)		probably benign	Het
Sh2b1	GG	GGCACCAGCTCAGCCCCGCG	7: 126,066,762 (GRCm39)		probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Sh2b1	GGGACCAGCTCAGCCACG	GGGACCAGCTCAGCCACGTGGACCAGCTCAGCCACG	7: 126,066,744 (GRCm39)		probably benign	Het
Slc25a23	C	A	17: 57,360,930 (GRCm39)	G165C	probably damaging	Het
Spata31e1	T	A	13: 49,940,175 (GRCm39)	T512S	possibly damaging	Het
Sytl2	T	A	7: 90,041,658 (GRCm39)	D585E	probably benign	Het
Ttc14	A	G	3: 33,858,856 (GRCm39)	T372A	possibly damaging	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn2r82	T	A	10: 79,214,768 (GRCm39)	Y250*	probably null	Het
Vmn2r92	T	A	17: 18,389,137 (GRCm39)	S484T	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
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
R9449:Pla2r1	UTSW	2	60,258,902 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCACCTGAGATTTCCCAGG -3'
(R):5'- ACTTTGCATGCAAAAGGATGC -3'

Sequencing Primer
(F):5'- GAGATTTCCCAGGACCTTGGTAC -3'
(R):5'- GATGCTTGATCCATTTATTGTCTGAC -3'

Posted On

2022-04-18