Mutagenetix > Incidental Mutation

Incidental Mutation 'R1488:Plce1'

254679

Institutional Source

Beutler Lab

Gene Symbol

Plce1

Ensembl Gene

ENSMUSG00000024998

Gene Name

phospholipase C, epsilon 1

Synonyms

PLCepsilon, 4933403A21Rik

MMRRC Submission

039540-MU

Accession Numbers

Essential gene?

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

Stock #

R1488 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

38469557-38773474 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38705247 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 884 (D884G)

Ref Sequence

ENSEMBL: ENSMUSP00000138330 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000169713] [ENSMUST00000182267] [ENSMUST00000182481]

AlphaFold

Q8K4S1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169713
AA Change: D884G

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000130604
Gene: ENSMUSG00000024998
AA Change: D884G

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

possibly damaging
Transcript: ENSMUST00000182267
AA Change: D884G

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000138330
Gene: ENSMUSG00000024998
AA Change: D884G

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	5.9e-11	PFAM
PLCXc	1373	1521	1.05e-81	SMART
low complexity region	1552	1581	N/A	INTRINSIC
SCOP:d1qasa3	1648	1676	1e-3	SMART
low complexity region	1680	1694	N/A	INTRINSIC
PLCYc	1724	1840	4.28e-46	SMART
C2	1864	1962	3.7e-10	SMART
PDB:2BYE\|A	2000	2108	6e-47	PDB
RA	2129	2232	1.12e-2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000182481
AA Change: D884G

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000138360
Gene: ENSMUSG00000024998
AA Change: D884G

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

0.3135

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.3%

Validation Efficiency

100% (53/53)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aoc1l2	A	G	6: 48,910,381 (GRCm39)	N691S	possibly damaging	Het
Arhgap23	A	G	11: 97,391,685 (GRCm39)	S1401G	possibly damaging	Het
Art2b	A	C	7: 101,229,414 (GRCm39)	F162V	probably damaging	Het
Atg4c	T	A	4: 99,109,479 (GRCm39)	W149R	probably damaging	Het
Atxn1l	A	G	8: 110,460,049 (GRCm39)	I71T	probably benign	Het
Axdnd1	T	A	1: 156,176,530 (GRCm39)	L748F	probably damaging	Het
Bdh2	A	G	3: 135,002,602 (GRCm39)	Y157C	probably damaging	Het
C2cd4a	G	T	9: 67,738,990 (GRCm39)	R18S	probably benign	Het
Catsperb	A	G	12: 101,560,526 (GRCm39)	H839R	probably damaging	Het
Ccdc24	C	A	4: 117,727,765 (GRCm39)	S134I	possibly damaging	Het
Cd55	G	T	1: 130,376,115 (GRCm39)	T70K	probably damaging	Het
Cdh10	A	T	15: 19,013,349 (GRCm39)	I650F	probably damaging	Het
Clca3a2	T	A	3: 144,789,925 (GRCm39)	K470N	possibly damaging	Het
Csn2	G	A	5: 87,842,755 (GRCm39)	Q91*	probably null	Het
Ctsh	G	A	9: 89,953,944 (GRCm39)	D218N	possibly damaging	Het
Cyb5r4	C	G	9: 86,911,591 (GRCm39)	Y88*	probably null	Het
Dgkq	A	G	5: 108,798,743 (GRCm39)	F601S	probably damaging	Het
Eci2	A	G	13: 35,161,916 (GRCm39)	V352A	probably benign	Het
Krt28	T	C	11: 99,255,997 (GRCm39)	T421A	probably benign	Het
Lamp5	T	C	2: 135,911,011 (GRCm39)	V248A	probably benign	Het
Lin9	T	A	1: 180,515,850 (GRCm39)	L483Q	possibly damaging	Het
Lrp1b	C	A	2: 41,392,036 (GRCm39)	M509I	probably benign	Het
Lrrfip1	T	C	1: 91,042,354 (GRCm39)	V253A	probably damaging	Het
Mpdz	C	A	4: 81,266,945 (GRCm39)	E981*	probably null	Het
Mpo	A	C	11: 87,688,256 (GRCm39)	N305T	probably damaging	Het
Or2y1	A	G	11: 49,385,945 (GRCm39)	E195G	probably benign	Het
Or51a24	T	C	7: 103,733,859 (GRCm39)	I143V	probably benign	Het
Or5p79	A	T	7: 108,221,696 (GRCm39)	I226F	probably damaging	Het
Papss2	T	C	19: 32,614,490 (GRCm39)	S69P	probably benign	Het
Pcdhb22	A	G	18: 37,652,941 (GRCm39)	T470A	possibly damaging	Het
Prex2	T	A	1: 11,263,752 (GRCm39)	I1239K	probably benign	Het
Prkd2	T	A	7: 16,592,364 (GRCm39)	F625I	probably damaging	Het
Rab20	A	T	8: 11,504,268 (GRCm39)	V144E	probably benign	Het
Rnf213	A	G	11: 119,371,715 (GRCm39)	N4840S	probably benign	Het
Scaf8	T	G	17: 3,247,872 (GRCm39)	M1065R	probably damaging	Het
Slco3a1	A	G	7: 73,996,449 (GRCm39)	L319P	possibly damaging	Het
Slit1	A	G	19: 41,596,824 (GRCm39)	C1092R	probably damaging	Het
Tlr4	A	G	4: 66,757,786 (GRCm39)	D193G	probably damaging	Het
Tmem145	T	A	7: 25,006,860 (GRCm39)		probably null	Het
Tmem184a	T	A	5: 139,793,395 (GRCm39)	K235N	probably benign	Het
Tnpo1	A	T	13: 98,993,415 (GRCm39)	D590E	probably damaging	Het
Trio	C	A	15: 27,741,053 (GRCm39)	G2724V	probably damaging	Het
Ttc6	A	T	12: 57,696,301 (GRCm39)	Y34F	possibly damaging	Het
Tuba4a	T	C	1: 75,193,045 (GRCm39)	T190A	probably benign	Het
Tubgcp4	T	G	2: 121,007,031 (GRCm39)	V136G	possibly damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Vmn1r74	T	C	7: 11,581,510 (GRCm39)	I270T	probably benign	Het
Vmn2r103	A	T	17: 20,013,922 (GRCm39)	E238V	probably damaging	Het
Vmn2r60	T	A	7: 41,786,137 (GRCm39)	F313L	probably benign	Het
Zfp710	T	C	7: 79,731,752 (GRCm39)	Y310H	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
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
R6522:Plce1	UTSW	19	38,736,965 (GRCm39)	splice site	probably null
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'- TGAGAAGTCCAAAGAGTGTGACCCC -3'
(R):5'- TGAAGCCCATAGAGCAGTGTGACC -3'

Sequencing Primer
(F):5'- ATCCAAGCAGATGTGCACCA -3'
(R):5'- TGTTCTGGACACACACAGTG -3'

Posted On

2014-12-05