Mutagenetix > Incidental Mutation

Incidental Mutation 'R7900:Pla2r1'

609928

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

045952-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7900 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

60247887-60383652 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60258858 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1177 (T1177A)

Ref Sequence

ENSEMBL: ENSMUSP00000108144 (fasta)

Gene Model

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

AlphaFold

Q62028

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112525
AA Change: T1177A

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108144
Gene: ENSMUSG00000054580
AA Change: T1177A

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: 99.5%
20x: 98.5%

Validation Efficiency

100% (50/50)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530084C06Rik	G	T	13: 31,742,978 (GRCm39)	R92S	unknown	Het
Adamtsl5	A	G	10: 80,177,735 (GRCm39)	F309S	probably damaging	Het
Ankle1	C	T	8: 71,860,061 (GRCm39)	T213I	probably damaging	Het
C4b	A	G	17: 34,958,751 (GRCm39)	S528P	probably benign	Het
Camk2a	A	G	18: 61,090,438 (GRCm39)	Y222C	probably damaging	Het
Cnst	A	G	1: 179,450,453 (GRCm39)	D639G	probably damaging	Het
Ctbp2	A	C	7: 132,616,328 (GRCm39)	S202R	probably benign	Het
Cwf19l2	G	T	9: 3,460,107 (GRCm39)	L798F	probably damaging	Het
Cyp11a1	T	A	9: 57,923,667 (GRCm39)	V124E	possibly damaging	Het
Ddx3y	C	T	Y: 1,266,594 (GRCm39)		probably null	Het
Dlst	G	T	12: 85,177,292 (GRCm39)	R346L	probably benign	Het
Dnah2	A	G	11: 69,409,254 (GRCm39)	S375P	probably damaging	Het
Dnm3	T	A	1: 162,182,940 (GRCm39)	Y125F	probably benign	Het
Dock9	C	T	14: 121,783,491 (GRCm39)	A2011T	possibly damaging	Het
Efr3a	T	A	15: 65,719,984 (GRCm39)		probably null	Het
Egln1	A	T	8: 125,640,879 (GRCm39)	I319N	possibly damaging	Het
Gata3	T	A	2: 9,863,461 (GRCm39)	N351I	probably damaging	Het
Gjd3	T	C	11: 102,690,920 (GRCm39)	N361S	probably benign	Het
Gpcpd1	T	C	2: 132,376,659 (GRCm39)	T546A	probably damaging	Het
Gpihbp1	T	C	15: 75,469,791 (GRCm39)	F169L	probably benign	Het
Gpnmb	A	T	6: 49,027,400 (GRCm39)	I375L	possibly damaging	Het
Itpka	A	T	2: 119,580,994 (GRCm39)	T381S	probably benign	Het
Lhx4	T	C	1: 155,617,709 (GRCm39)		probably benign	Het
Lrguk	T	C	6: 34,106,129 (GRCm39)	L718P	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Nr1d1	T	A	11: 98,660,537 (GRCm39)	T477S	probably benign	Het
Nxnl1	A	T	8: 72,019,170 (GRCm39)	D18E	probably damaging	Het
Onecut2	G	T	18: 64,474,658 (GRCm39)	R403L	probably damaging	Het
Or51v14	T	C	7: 103,260,900 (GRCm39)	Y220C	possibly damaging	Het
Or5an1	T	A	19: 12,260,705 (GRCm39)	C98S	probably damaging	Het
Prkd2	T	C	7: 16,587,269 (GRCm39)	V405A	probably benign	Het
Ranbp1	T	C	16: 18,063,161 (GRCm39)	T72A	probably damaging	Het
Retnla	A	C	16: 48,663,977 (GRCm39)	R90S	probably benign	Het
Sec31b	A	T	19: 44,514,669 (GRCm39)	I385N	probably damaging	Het
Slc6a19	C	T	13: 73,848,583 (GRCm39)	R57H	probably damaging	Het
Smurf1	T	C	5: 144,836,183 (GRCm39)	D110G	probably damaging	Het
Specc1	A	G	11: 62,110,187 (GRCm39)	Y975C	probably damaging	Het
Tas2r136	T	A	6: 132,754,599 (GRCm39)	N176I	possibly damaging	Het
Tecrl	A	C	5: 83,427,188 (GRCm39)	V320G	probably benign	Het
Tmem245	A	G	4: 56,924,973 (GRCm39)		probably null	Het
Tpd52l1	T	A	10: 31,214,178 (GRCm39)		probably null	Het
Trbv2	A	G	6: 41,024,908 (GRCm39)	Y108C	probably damaging	Het
Trpm7	T	C	2: 126,639,418 (GRCm39)	M1689V	probably benign	Het
Usp24	A	G	4: 106,266,597 (GRCm39)	Y1855C	probably damaging	Het
Usp9y	A	T	Y: 1,384,354 (GRCm39)	S721R	possibly damaging	Het
Vwf	G	A	6: 125,605,439 (GRCm39)		probably null	Het
Washc4	T	A	10: 83,409,637 (GRCm39)		probably null	Het
Yeats4	G	A	10: 117,056,464 (GRCm39)	H71Y	possibly damaging	Het
Zbtb38	A	C	9: 96,570,989 (GRCm39)	L32V	probably damaging	Het
Zfy1	T	C	Y: 725,519 (GRCm39)	T749A	possibly 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
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
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'- CAAGGGCATGTTTATCTGGAAAAG -3'
(R):5'- ACGTCTGCAATCCCCAGTAC -3'

Sequencing Primer
(F):5'- ATAGCCTTGGGATTCTCAAACC -3'
(R):5'- GCAATCCCCAGTACGTTAGAATATGG -3'

Posted On

2019-12-20