Mutagenetix > Incidental Mutation

Incidental Mutation 'R6522:Plce1'

540731

Institutional Source

Beutler Lab

Gene Symbol

Plce1

Ensembl Gene

ENSMUSG00000024998

Gene Name

phospholipase C, epsilon 1

Synonyms

PLCepsilon, 4933403A21Rik

MMRRC Submission

044648-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.488) question?

Stock #

R6522 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38469557-38773474 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 38736965 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000138360 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000169713] [ENSMUST00000182481]

AlphaFold

Q8K4S1

Predicted Effect

probably null
Transcript: ENSMUST00000169713

SMART Domains

Protein: ENSMUSP00000130604
Gene: ENSMUSG00000024998

Domain	Start	End	E-Value	Type
low complexity region	471	489	N/A	INTRINSIC
RasGEF	525	828	8.06e-9	SMART
low complexity region	1162	1172	N/A	INTRINSIC
Pfam:EF-hand_like	1305	1369	7.6e-11	PFAM
PLCXc	1373	1521	1.05e-81	SMART
low complexity region	1561	1575	N/A	INTRINSIC
SCOP:d1qasa3	1634	1662	1e-3	SMART
low complexity region	1666	1680	N/A	INTRINSIC
PLCYc	1710	1826	4.28e-46	SMART
C2	1850	1948	3.7e-10	SMART
PDB:2BYE\|A	1986	2094	6e-47	PDB
RA	2115	2218	1.12e-2	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000182481

SMART Domains

Protein: ENSMUSP00000138360
Gene: ENSMUSG00000024998

Domain	Start	End	E-Value	Type
low complexity region	471	489	N/A	INTRINSIC
RasGEF	525	828	8.06e-9	SMART
low complexity region	1162	1172	N/A	INTRINSIC
Pfam:EF-hand_like	1305	1369	8e-11	PFAM
PLCXc	1373	1521	1.05e-81	SMART
low complexity region	1561	1575	N/A	INTRINSIC
SCOP:d1qasa3	1634	1662	1e-3	SMART
low complexity region	1666	1680	N/A	INTRINSIC
PLCYc	1710	1826	4.28e-46	SMART
C2	1850	1948	3.7e-10	SMART
PDB:2BYE\|A	1986	2094	6e-47	PDB
RA	2115	2218	1.12e-2	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.3%

Validation Efficiency

100% (56/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a phospholipase enzyme that catalyzes the hydrolysis of phosphatidylinositol-4,5-bisphosphate to generate two second messengers: inositol 1,4,5-triphosphate (IP3) and diacylglycerol (DAG). These second messengers subsequently regulate various processes affecting cell growth, differentiation, and gene expression. This enzyme is regulated by small monomeric GTPases of the Ras and Rho families and by heterotrimeric G proteins. In addition to its phospholipase C catalytic activity, this enzyme has an N-terminal domain with guanine nucleotide exchange (GEF) activity. Mutations in this gene cause early-onset nephrotic syndrome; characterized by proteinuria, edema, and diffuse mesangial sclerosis or focal and segmental glomerulosclerosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous mutation of this gene results in a congenital semilunar valvulogenesis defect which causes regurgitation and stenosis, and decreased incidence of induced skin tumors. Another mutant exhibits decreased cardiac contraction and increased hypertrophy in response to chronic stress. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	C	A	10: 10,253,636 (GRCm39)	E1209*	probably null	Het
Adgrg5	G	T	8: 95,668,696 (GRCm39)	R503L	probably benign	Het
Anks1b	C	T	10: 90,733,189 (GRCm39)		probably benign	Het
Anxa5	A	T	3: 36,519,451 (GRCm39)	F13I	probably damaging	Het
Bicd1	A	G	6: 149,385,503 (GRCm39)	I79V	probably benign	Het
Bnip1	A	G	17: 27,008,719 (GRCm39)	D107G	probably damaging	Het
Ccdc42	A	G	11: 68,479,046 (GRCm39)	E78G	probably damaging	Het
Ccnk	A	G	12: 108,153,446 (GRCm39)	D69G	probably damaging	Het
Clec2i	G	T	6: 128,870,692 (GRCm39)	V77F	probably damaging	Het
Clec4g	A	C	8: 3,768,803 (GRCm39)	V62G	probably benign	Het
Col4a4	G	A	1: 82,465,304 (GRCm39)	A957V	unknown	Het
Csnk1d	A	G	11: 120,862,449 (GRCm39)	F277L	probably damaging	Het
Dip2c	G	A	13: 9,625,264 (GRCm39)		probably null	Het
Dpf2	T	A	19: 5,955,560 (GRCm39)	K108*	probably null	Het
Dync1h1	G	A	12: 110,583,171 (GRCm39)	D423N	probably damaging	Het
Fbxl13	T	C	5: 21,766,554 (GRCm39)		probably null	Homo
Flad1	T	C	3: 89,310,490 (GRCm39)	R488G	probably damaging	Het
Galnt6	A	C	15: 100,591,236 (GRCm39)	*623E	probably null	Het
Gtf2e1	T	C	16: 37,331,816 (GRCm39)	T420A	possibly damaging	Het
Hspg2	T	C	4: 137,282,586 (GRCm39)	V3442A	probably damaging	Het
Itpr1	A	G	6: 108,365,237 (GRCm39)	D55G	probably damaging	Het
Kdm2a	C	A	19: 4,374,854 (GRCm39)	R759L	possibly damaging	Het
Kif19a	A	G	11: 114,676,605 (GRCm39)	E478G	probably damaging	Het
Lamb3	G	A	1: 193,017,761 (GRCm39)	V881I	probably benign	Het
Map3k6	T	C	4: 132,977,335 (GRCm39)	L894P	possibly damaging	Het
Mast4	A	G	13: 102,897,801 (GRCm39)		probably null	Het
Mst1r	G	A	9: 107,790,438 (GRCm39)	V684M	probably benign	Het
Naa15	T	C	3: 51,378,935 (GRCm39)	S727P	probably damaging	Het
Nap1l1	T	C	10: 111,330,084 (GRCm39)	L330S	probably damaging	Het
Nav2	A	G	7: 49,247,281 (GRCm39)	T2205A	probably damaging	Het
Ncf2	T	C	1: 152,703,214 (GRCm39)		probably null	Het
Opa1	T	A	16: 29,444,332 (GRCm39)	N839K	probably benign	Het
Or4c104	T	C	2: 88,586,452 (GRCm39)	D189G	probably damaging	Het
Or52a33	T	C	7: 103,288,504 (GRCm39)	Y281C	probably damaging	Het
Or52n4b	G	A	7: 108,144,202 (GRCm39)	V155I	probably benign	Het
Pcdha7	T	C	18: 37,106,995 (GRCm39)	Y7H	possibly damaging	Het
Pcdhb15	T	C	18: 37,607,314 (GRCm39)	V182A	probably benign	Het
Phf10	A	T	17: 15,176,269 (GRCm39)	I128N	probably damaging	Het
Plxnb2	T	C	15: 89,048,629 (GRCm39)	N626S	probably benign	Het
Prh1	G	A	6: 132,548,996 (GRCm39)	G168R	unknown	Het
Prss51	A	G	14: 64,334,855 (GRCm39)	T137A	possibly damaging	Het
Ptprcap	C	T	19: 4,206,183 (GRCm39)	R89C	possibly damaging	Het
Scfd1	A	G	12: 51,478,324 (GRCm39)	K512R	probably benign	Het
Serpina1b	A	C	12: 103,701,296 (GRCm39)		probably null	Het
Setbp1	T	C	18: 78,900,605 (GRCm39)	T1021A	probably damaging	Het
Slco1b2	G	A	6: 141,601,145 (GRCm39)		probably null	Het
Snrnp200	C	T	2: 127,063,747 (GRCm39)	T642I	probably benign	Het
Tenm4	A	C	7: 96,492,251 (GRCm39)	I1063L	possibly damaging	Het
Tfb2m	G	A	1: 179,373,611 (GRCm39)	A29V	probably benign	Het
Tfeb	T	C	17: 48,100,627 (GRCm39)	V140A	probably damaging	Het
Tmem104	A	T	11: 115,134,579 (GRCm39)	I372F	probably damaging	Het
Tmem132d	G	T	5: 127,860,832 (GRCm39)	H1096Q	probably benign	Het
Trim12c	A	T	7: 103,997,531 (GRCm39)	N8K	probably benign	Het
Tti2	A	G	8: 31,643,631 (GRCm39)	I249V	probably null	Het
Vps8	T	A	16: 21,261,129 (GRCm39)	L90I	probably damaging	Het
Vwf	A	T	6: 125,639,926 (GRCm39)		probably null	Het
Wdfy4	A	G	14: 32,868,901 (GRCm39)	S376P	probably damaging	Het

Other mutations in Plce1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Plce1	APN	19	38,734,232 (GRCm39)	missense	probably damaging	0.99
IGL00336:Plce1	APN	19	38,640,350 (GRCm39)	missense	probably damaging	1.00
IGL00430:Plce1	APN	19	38,713,461 (GRCm39)	missense	probably damaging	1.00
IGL00466:Plce1	APN	19	38,709,473 (GRCm39)	missense	probably damaging	0.99
IGL00477:Plce1	APN	19	38,513,576 (GRCm39)	missense	probably benign	0.39
IGL00839:Plce1	APN	19	38,687,006 (GRCm39)	missense	probably damaging	1.00
IGL01292:Plce1	APN	19	38,640,229 (GRCm39)	splice site	probably benign
IGL01665:Plce1	APN	19	38,513,331 (GRCm39)	missense	probably benign	0.01
IGL01826:Plce1	APN	19	38,727,682 (GRCm39)	splice site	probably benign
IGL01833:Plce1	APN	19	38,709,425 (GRCm39)	missense	probably damaging	1.00
IGL02201:Plce1	APN	19	38,757,890 (GRCm39)	splice site	probably benign
IGL02276:Plce1	APN	19	38,513,201 (GRCm39)	missense	probably benign	0.05
IGL02477:Plce1	APN	19	38,707,997 (GRCm39)	splice site	probably benign
IGL02746:Plce1	APN	19	38,686,916 (GRCm39)	missense	probably damaging	1.00
Angel_food	UTSW	19	38,715,457 (GRCm39)	splice site	probably benign
Heavenly	UTSW	19	38,766,433 (GRCm39)	missense	probably damaging	1.00
R0058:Plce1	UTSW	19	38,513,628 (GRCm39)	missense	possibly damaging	0.90
R0058:Plce1	UTSW	19	38,513,628 (GRCm39)	missense	possibly damaging	0.90
R0064:Plce1	UTSW	19	38,769,228 (GRCm39)	critical splice donor site	probably null
R0116:Plce1	UTSW	19	38,710,265 (GRCm39)	missense	probably benign
R0138:Plce1	UTSW	19	38,512,863 (GRCm39)	missense	possibly damaging	0.49
R0240:Plce1	UTSW	19	38,717,330 (GRCm39)	missense	probably damaging	0.99
R0240:Plce1	UTSW	19	38,717,330 (GRCm39)	missense	probably damaging	0.99
R0504:Plce1	UTSW	19	38,766,465 (GRCm39)	splice site	probably benign
R0506:Plce1	UTSW	19	38,748,582 (GRCm39)	missense	probably benign	0.04
R0578:Plce1	UTSW	19	38,766,383 (GRCm39)	missense	probably damaging	1.00
R0645:Plce1	UTSW	19	38,766,433 (GRCm39)	missense	probably damaging	1.00
R0730:Plce1	UTSW	19	38,705,135 (GRCm39)	missense	probably damaging	0.98
R0920:Plce1	UTSW	19	38,724,965 (GRCm39)	missense	probably damaging	1.00
R1223:Plce1	UTSW	19	38,755,670 (GRCm39)	missense	probably damaging	1.00
R1223:Plce1	UTSW	19	38,690,457 (GRCm39)	missense	probably damaging	1.00
R1484:Plce1	UTSW	19	38,693,783 (GRCm39)	nonsense	probably null
R1488:Plce1	UTSW	19	38,705,247 (GRCm39)	missense	possibly damaging	0.92
R1598:Plce1	UTSW	19	38,709,440 (GRCm39)	missense	probably damaging	1.00
R1624:Plce1	UTSW	19	38,713,219 (GRCm39)	missense	probably damaging	1.00
R1732:Plce1	UTSW	19	38,705,282 (GRCm39)	missense	possibly damaging	0.56
R1778:Plce1	UTSW	19	38,769,234 (GRCm39)	splice site	probably benign
R1797:Plce1	UTSW	19	38,747,392 (GRCm39)	critical splice donor site	probably null
R1872:Plce1	UTSW	19	38,748,521 (GRCm39)	missense	probably damaging	1.00
R1876:Plce1	UTSW	19	38,769,067 (GRCm39)	missense	probably damaging	1.00
R1991:Plce1	UTSW	19	38,766,368 (GRCm39)	missense	probably damaging	1.00
R2080:Plce1	UTSW	19	38,715,457 (GRCm39)	splice site	probably benign
R2103:Plce1	UTSW	19	38,766,368 (GRCm39)	missense	probably damaging	1.00
R2376:Plce1	UTSW	19	38,766,430 (GRCm39)	missense	probably benign	0.02
R2471:Plce1	UTSW	19	38,768,370 (GRCm39)	missense	probably damaging	1.00
R2511:Plce1	UTSW	19	38,748,498 (GRCm39)	missense	probably damaging	1.00
R2842:Plce1	UTSW	19	38,512,727 (GRCm39)	missense	probably damaging	1.00
R3037:Plce1	UTSW	19	38,766,328 (GRCm39)	missense	probably damaging	0.98
R3104:Plce1	UTSW	19	38,608,963 (GRCm39)	missense	probably benign	0.00
R3700:Plce1	UTSW	19	38,693,781 (GRCm39)	missense	probably damaging	1.00
R3750:Plce1	UTSW	19	38,766,343 (GRCm39)	missense	probably benign
R3753:Plce1	UTSW	19	38,640,278 (GRCm39)	missense	probably benign	0.09
R4027:Plce1	UTSW	19	38,512,709 (GRCm39)	missense	probably damaging	1.00
R4057:Plce1	UTSW	19	38,748,563 (GRCm39)	missense	probably damaging	1.00
R4376:Plce1	UTSW	19	38,693,891 (GRCm39)	critical splice donor site	probably null
R4433:Plce1	UTSW	19	38,755,745 (GRCm39)	missense	probably damaging	1.00
R4520:Plce1	UTSW	19	38,512,763 (GRCm39)	missense	possibly damaging	0.46
R4521:Plce1	UTSW	19	38,512,763 (GRCm39)	missense	possibly damaging	0.46
R4522:Plce1	UTSW	19	38,512,763 (GRCm39)	missense	possibly damaging	0.46
R4524:Plce1	UTSW	19	38,512,763 (GRCm39)	missense	possibly damaging	0.46
R4650:Plce1	UTSW	19	38,513,088 (GRCm39)	missense	probably benign	0.30
R4673:Plce1	UTSW	19	38,737,840 (GRCm39)	missense	possibly damaging	0.51
R4701:Plce1	UTSW	19	38,713,451 (GRCm39)	missense	probably benign	0.33
R4828:Plce1	UTSW	19	38,757,943 (GRCm39)	missense	probably damaging	1.00
R5103:Plce1	UTSW	19	38,755,659 (GRCm39)	missense	probably damaging	1.00
R5112:Plce1	UTSW	19	38,640,277 (GRCm39)	missense	probably benign	0.00
R5236:Plce1	UTSW	19	38,758,791 (GRCm39)	missense	probably benign	0.11
R5268:Plce1	UTSW	19	38,747,279 (GRCm39)	missense	possibly damaging	0.71
R5288:Plce1	UTSW	19	38,748,535 (GRCm39)	missense	probably damaging	1.00
R5384:Plce1	UTSW	19	38,748,535 (GRCm39)	missense	probably damaging	1.00
R5386:Plce1	UTSW	19	38,748,535 (GRCm39)	missense	probably damaging	1.00
R5448:Plce1	UTSW	19	38,768,361 (GRCm39)	missense	probably damaging	1.00
R5452:Plce1	UTSW	19	38,608,926 (GRCm39)	missense	probably benign	0.01
R6004:Plce1	UTSW	19	38,710,315 (GRCm39)	missense	probably damaging	1.00
R6062:Plce1	UTSW	19	38,513,195 (GRCm39)	missense	probably benign
R6147:Plce1	UTSW	19	38,690,481 (GRCm39)	missense	probably damaging	1.00
R6247:Plce1	UTSW	19	38,734,289 (GRCm39)	missense	probably damaging	1.00
R6278:Plce1	UTSW	19	38,713,495 (GRCm39)	splice site	probably null
R6306:Plce1	UTSW	19	38,757,909 (GRCm39)	missense	probably damaging	1.00
R6317:Plce1	UTSW	19	38,512,974 (GRCm39)	nonsense	probably null
R6437:Plce1	UTSW	19	38,513,576 (GRCm39)	missense	probably benign	0.39
R7034:Plce1	UTSW	19	38,727,801 (GRCm39)	missense	probably damaging	1.00
R7036:Plce1	UTSW	19	38,727,801 (GRCm39)	missense	probably damaging	1.00
R7037:Plce1	UTSW	19	38,690,461 (GRCm39)	missense	probably damaging	1.00
R7069:Plce1	UTSW	19	38,747,384 (GRCm39)	missense	probably damaging	1.00
R7180:Plce1	UTSW	19	38,768,229 (GRCm39)	missense	probably damaging	1.00
R7189:Plce1	UTSW	19	38,748,581 (GRCm39)	missense	probably damaging	0.97
R7227:Plce1	UTSW	19	38,715,346 (GRCm39)	missense	probably benign	0.00
R7253:Plce1	UTSW	19	38,686,952 (GRCm39)	missense	probably damaging	1.00
R7278:Plce1	UTSW	19	38,768,340 (GRCm39)	missense	possibly damaging	0.58
R7287:Plce1	UTSW	19	38,690,347 (GRCm39)	missense	probably benign	0.02
R7422:Plce1	UTSW	19	38,640,329 (GRCm39)	missense	probably damaging	1.00
R7557:Plce1	UTSW	19	38,753,848 (GRCm39)	missense	probably benign	0.30
R7607:Plce1	UTSW	19	38,513,196 (GRCm39)	missense	probably benign
R7615:Plce1	UTSW	19	38,513,109 (GRCm39)	missense	probably benign	0.18
R7653:Plce1	UTSW	19	38,737,763 (GRCm39)	missense	probably benign	0.20
R7685:Plce1	UTSW	19	38,736,877 (GRCm39)	missense	probably benign	0.00
R7716:Plce1	UTSW	19	38,705,295 (GRCm39)	missense	probably benign
R7744:Plce1	UTSW	19	38,608,899 (GRCm39)	missense	possibly damaging	0.93
R7790:Plce1	UTSW	19	38,769,140 (GRCm39)	missense	probably damaging	0.97
R7921:Plce1	UTSW	19	38,608,997 (GRCm39)	missense	probably benign	0.03
R8070:Plce1	UTSW	19	38,690,283 (GRCm39)	missense	probably damaging	0.99
R8087:Plce1	UTSW	19	38,724,965 (GRCm39)	missense	probably damaging	1.00
R8116:Plce1	UTSW	19	38,513,262 (GRCm39)	missense	probably benign	0.32
R8178:Plce1	UTSW	19	38,761,423 (GRCm39)	missense	possibly damaging	0.93
R8321:Plce1	UTSW	19	38,640,380 (GRCm39)	missense	probably benign	0.00
R8416:Plce1	UTSW	19	38,761,441 (GRCm39)	missense	possibly damaging	0.77
R8544:Plce1	UTSW	19	38,512,903 (GRCm39)	missense	probably benign	0.00
R8713:Plce1	UTSW	19	38,513,345 (GRCm39)	missense	probably benign	0.01
R8850:Plce1	UTSW	19	38,512,811 (GRCm39)	missense	probably benign
R9217:Plce1	UTSW	19	38,748,551 (GRCm39)	missense	probably damaging	1.00
R9231:Plce1	UTSW	19	38,705,040 (GRCm39)	missense	probably benign	0.13
R9232:Plce1	UTSW	19	38,705,423 (GRCm39)	missense	probably benign	0.16
R9332:Plce1	UTSW	19	38,726,377 (GRCm39)	missense	probably damaging	1.00
R9473:Plce1	UTSW	19	38,766,337 (GRCm39)	missense	possibly damaging	0.93
R9474:Plce1	UTSW	19	38,766,337 (GRCm39)	missense	possibly damaging	0.93
R9475:Plce1	UTSW	19	38,766,337 (GRCm39)	missense	possibly damaging	0.93
R9476:Plce1	UTSW	19	38,766,337 (GRCm39)	missense	possibly damaging	0.93
R9751:Plce1	UTSW	19	38,717,414 (GRCm39)	missense	probably damaging	1.00
R9780:Plce1	UTSW	19	38,609,134 (GRCm39)	missense	possibly damaging	0.94
R9781:Plce1	UTSW	19	38,513,654 (GRCm39)	missense	probably damaging	1.00
RF018:Plce1	UTSW	19	38,705,651 (GRCm39)	missense	probably damaging	0.99
X0022:Plce1	UTSW	19	38,715,443 (GRCm39)	missense	probably damaging	1.00
X0065:Plce1	UTSW	19	38,766,358 (GRCm39)	missense	possibly damaging	0.48
Z1176:Plce1	UTSW	19	38,757,904 (GRCm39)	missense	probably damaging	1.00
Z1176:Plce1	UTSW	19	38,713,424 (GRCm39)	nonsense	probably null
Z1176:Plce1	UTSW	19	38,690,338 (GRCm39)	missense	probably damaging	1.00
Z1177:Plce1	UTSW	19	38,640,286 (GRCm39)	missense	probably null	0.48

Predicted Primers

PCR Primer
(F):5'- TGCCTTAATTTGATGTATCTGGCTC -3'
(R):5'- GCCATGTTTGACAGCTCTATTCAG -3'

Sequencing Primer
(F):5'- GATGTATCTGGCTCTGACTTAATTC -3'
(R):5'- GACAGCTCTATTCAGAACAAGTATG -3'

Posted On

2018-11-19