Mutagenetix > Incidental Mutation

Incidental Mutation 'R4541:Pla2r1'

333522

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

041777-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4541 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

60247887-60383652 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 60258082 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 1199 (D1199N)

Ref Sequence

ENSEMBL: ENSMUSP00000108144 (fasta)

Gene Model

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

AlphaFold

Q62028

Predicted Effect

probably damaging
Transcript: ENSMUST00000067708
AA Change: D1199N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000065205
Gene: ENSMUSG00000054580
AA Change: D1199N

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

probably damaging
Transcript: ENSMUST00000112525
AA Change: D1199N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108144
Gene: ENSMUSG00000054580
AA Change: D1199N

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

Meta Mutation Damage Score

0.1181

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

96% (51/53)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	C	T	11: 58,769,676 (GRCm39)	P73S	probably benign	Het
4930533L02Rik	G	A	7: 124,917,750 (GRCm39)		noncoding transcript	Het
Acot4	A	T	12: 84,090,022 (GRCm39)	I240F	probably benign	Het
B4galt6	A	G	18: 20,878,496 (GRCm39)	V10A	probably benign	Het
Bag4	C	T	8: 26,259,516 (GRCm39)	A228T	probably benign	Het
Ccnb3	T	C	X: 6,875,308 (GRCm39)	T424A	probably benign	Het
Cd8a	A	T	6: 71,350,856 (GRCm39)	D107V	probably benign	Het
Cdca7l	T	C	12: 117,836,098 (GRCm39)	S190P	probably damaging	Het
Ceacam12	G	A	7: 17,805,648 (GRCm39)	M278I	probably benign	Het
Cfap43	C	T	19: 47,736,454 (GRCm39)	V1346I	probably benign	Het
Clic5	C	T	17: 44,552,956 (GRCm39)	T70M	probably damaging	Het
Dbpht2	A	T	12: 74,345,934 (GRCm39)		noncoding transcript	Het
Ddhd1	G	A	14: 45,860,313 (GRCm39)	R140*	probably null	Het
Evpl	T	G	11: 116,123,470 (GRCm39)	I301L	probably benign	Het
Glul	T	A	1: 153,778,782 (GRCm39)	Y30*	probably null	Het
Itgad	A	T	7: 127,797,287 (GRCm39)	H878L	probably benign	Het
Kcnk10	A	G	12: 98,402,536 (GRCm39)	I301T	probably damaging	Het
Klhl14	A	T	18: 21,687,696 (GRCm39)	Y575*	probably null	Het
Mrps2	G	T	2: 28,358,412 (GRCm39)		probably benign	Het
Mymx	GCC	GC	17: 45,912,519 (GRCm39)		probably null	Het
Napb	G	A	2: 148,551,229 (GRCm39)		probably benign	Het
Nlrp1c-ps	A	G	11: 71,171,706 (GRCm39)		noncoding transcript	Het
Or10g9b	A	C	9: 39,917,589 (GRCm39)	S219A	possibly damaging	Het
Or4f15	A	G	2: 111,813,981 (GRCm39)	I146T	probably benign	Het
Piwil4	C	A	9: 14,629,612 (GRCm39)	M438I	probably damaging	Het
Pmpca	T	G	2: 26,280,201 (GRCm39)		probably benign	Het
Prkcq	G	T	2: 11,288,623 (GRCm39)	M525I	possibly damaging	Het
Rnf225	T	C	7: 12,662,520 (GRCm39)		probably null	Het
Sco1	G	T	11: 66,943,668 (GRCm39)	A50S	probably benign	Het
Slc12a2	T	A	18: 58,046,037 (GRCm39)		probably null	Het
Slc36a1	T	C	11: 55,112,849 (GRCm39)	V148A	probably benign	Het
Sost	G	A	11: 101,857,670 (GRCm39)	P44S	probably damaging	Het
Tbc1d10c	G	T	19: 4,239,473 (GRCm39)	R96S	probably damaging	Het
Tbc1d2b	A	T	9: 90,087,222 (GRCm39)	I919N	probably damaging	Het
Tcea1	T	C	1: 4,963,659 (GRCm39)	L233P	probably damaging	Het
Tlcd4	A	G	3: 121,028,884 (GRCm39)	M1T	probably null	Het
Tmem231	T	C	8: 112,641,224 (GRCm39)	T223A	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tomm34	A	G	2: 163,896,719 (GRCm39)	Y243H	probably benign	Het
Tubgcp4	A	T	2: 121,025,907 (GRCm39)	N584I	probably benign	Het
Vldlr	T	C	19: 27,216,192 (GRCm39)	C7R	probably damaging	Het
Vmn1r42	A	T	6: 89,822,533 (GRCm39)	M12K	probably benign	Het
Vsig10	C	T	5: 117,490,881 (GRCm39)		probably benign	Het
Zfp974	C	G	7: 27,625,829 (GRCm39)	V14L	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
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
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'- ACCAGAGAGACTACAGGCTTC -3'
(R):5'- ATAAACTCTGTTCCCTCCACGG -3'

Sequencing Primer
(F):5'- ATTGCTGAGCACGATCATGC -3'
(R):5'- CACGGCCTCTGGGTCTTTTG -3'

Posted On

2015-08-18