Mutagenetix > Incidental Mutation

Incidental Mutation 'R8713:Plce1'

669742

Institutional Source

Beutler Lab

Gene Symbol

Plce1

Ensembl Gene

ENSMUSG00000024998

Gene Name

phospholipase C, epsilon 1

Synonyms

4933403A21Rik, PLCepsilon

MMRRC Submission

068567-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.463) question?

Stock #

R8713 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38481109-38785030 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38524901 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 215 (C215R)

Ref Sequence

ENSEMBL: ENSMUSP00000138330 (fasta)

Gene Model

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

AlphaFold

Q8K4S1

Predicted Effect

probably damaging
Transcript: ENSMUST00000169713
AA Change: C215R

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

SMART Domains

Protein: ENSMUSP00000130604
Gene: ENSMUSG00000024998
AA Change: C215R

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 benign
Transcript: ENSMUST00000182267
AA Change: C215R

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000138330
Gene: ENSMUSG00000024998
AA Change: C215R

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

probably damaging
Transcript: ENSMUST00000182481
AA Change: C215R

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

SMART Domains

Protein: ENSMUSP00000138360
Gene: ENSMUSG00000024998
AA Change: C215R

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (52/52)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	C	T	5: 35,873,174 (GRCm38)	A581V	possibly damaging	Het
Adam18	T	A	8: 24,652,173 (GRCm38)	M196L	probably benign	Het
Ankrd10	A	G	8: 11,628,491 (GRCm38)	S134P	probably damaging	Het
Ano8	C	T	8: 71,485,077 (GRCm38)	G47D	probably damaging	Het
Arl6ip4	T	C	5: 124,116,762 (GRCm38)	V4A	unknown	Het
Cabp4	C	T	19: 4,136,160 (GRCm38)	M247I	probably benign	Het
Ccdc30	A	T	4: 119,404,207 (GRCm38)	L11Q	probably damaging	Het
Cdkl4	A	G	17: 80,533,863 (GRCm38)	S288P	possibly damaging	Het
Celsr3	A	G	9: 108,829,863 (GRCm38)	I1182V	probably benign	Het
Dnah17	T	C	11: 118,088,202 (GRCm38)	D1788G	probably damaging	Het
Dsp	A	G	13: 38,168,725 (GRCm38)	D193G	probably damaging	Het
Dym	T	G	18: 75,056,738 (GRCm38)	Y132*	probably null	Het
Dync2h1	G	A	9: 7,141,008 (GRCm38)	Q1340*	probably null	Het
Elmo1	T	C	13: 20,274,621 (GRCm38)		probably benign	Het
Fbxw15	A	C	9: 109,555,599 (GRCm38)	F378V	possibly damaging	Het
Fsip2	G	A	2: 82,981,109 (GRCm38)	G2591R	probably damaging	Het
Gps2	C	A	11: 69,915,354 (GRCm38)	D148E	probably benign	Het
Iars2	T	C	1: 185,291,418 (GRCm38)	D772G	possibly damaging	Het
Ifit1	T	A	19: 34,647,638 (GRCm38)	L58Q	probably benign	Het
Kctd4	A	T	14: 75,962,926 (GRCm38)	Q112H	probably benign	Het
Letm1	A	G	5: 33,762,505 (GRCm38)	L230P	probably damaging	Het
Lrch4	G	T	5: 137,639,863 (GRCm38)	E136*	probably null	Het
Macc1	T	C	12: 119,443,526 (GRCm38)		probably benign	Het
Macrod1	T	C	19: 7,057,126 (GRCm38)	L79P	probably benign	Het
Map2	T	A	1: 66,414,622 (GRCm38)	N890K	probably damaging	Het
Mctp1	G	A	13: 76,641,803 (GRCm38)	S270N	probably benign	Het
Mrpl44	C	T	1: 79,777,991 (GRCm38)	R105C	probably damaging	Het
Mtg1	T	C	7: 140,140,223 (GRCm38)	F68L	probably benign	Het
Mtg1	T	A	7: 140,137,775 (GRCm38)		probably null	Het
Nfil3	A	G	13: 52,968,011 (GRCm38)	S286P	possibly damaging	Het
Nutm1	A	G	2: 112,251,322 (GRCm38)	V332A	possibly damaging	Het
Obscn	T	A	11: 59,135,966 (GRCm38)	Q137L	probably benign	Het
Pcnx2	T	G	8: 125,818,786 (GRCm38)	E1162A	probably damaging	Het
Pgr	A	G	9: 8,900,817 (GRCm38)	D117G	possibly damaging	Het
Rrm1	T	G	7: 102,460,351 (GRCm38)	Y461D	probably damaging	Het
Sbk3	C	T	7: 4,969,992 (GRCm38)	V60I	possibly damaging	Het
Scube1	G	T	15: 83,610,270 (GRCm38)	A852E	possibly damaging	Het
Sec24d	T	A	3: 123,343,892 (GRCm38)	I561N	probably damaging	Het
Slc16a4	T	C	3: 107,311,585 (GRCm38)	*501Q	probably null	Het
Slc6a19	C	A	13: 73,700,621 (GRCm38)	V5L	probably benign	Het
Spryd3	A	G	15: 102,133,485 (GRCm38)	I34T	possibly damaging	Het
Syne1	A	G	10: 5,316,040 (GRCm38)	L2191P	probably damaging	Het
Tbrg1	A	G	9: 37,652,659 (GRCm38)	C227R	probably damaging	Het
Tdrd6	A	G	17: 43,625,019 (GRCm38)	S1713P	probably benign	Het
Thap12	C	T	7: 98,707,076 (GRCm38)	L57F	probably benign	Het
Top1	G	A	2: 160,717,440 (GRCm38)	V628I	probably damaging	Het
Trim67	A	G	8: 124,820,335 (GRCm38)	M495V	probably null	Het
Trio	A	C	15: 27,743,951 (GRCm38)		probably benign	Het
Vmn2r23	A	T	6: 123,703,032 (GRCm38)	Y71F		Het
Ywhah	A	G	5: 33,027,191 (GRCm38)	N246S	probably benign	Het
Zcwpw1	T	C	5: 137,799,532 (GRCm38)	I125T	probably benign	Het

Other mutations in Plce1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Plce1	APN	19	38,745,788 (GRCm38)	missense	probably damaging	0.99
IGL00336:Plce1	APN	19	38,651,906 (GRCm38)	missense	probably damaging	1.00
IGL00430:Plce1	APN	19	38,725,017 (GRCm38)	missense	probably damaging	1.00
IGL00466:Plce1	APN	19	38,721,029 (GRCm38)	missense	probably damaging	0.99
IGL00477:Plce1	APN	19	38,525,132 (GRCm38)	missense	probably benign	0.39
IGL00839:Plce1	APN	19	38,698,562 (GRCm38)	missense	probably damaging	1.00
IGL01292:Plce1	APN	19	38,651,785 (GRCm38)	splice site	probably benign
IGL01665:Plce1	APN	19	38,524,887 (GRCm38)	missense	probably benign	0.01
IGL01826:Plce1	APN	19	38,739,238 (GRCm38)	splice site	probably benign
IGL01833:Plce1	APN	19	38,720,981 (GRCm38)	missense	probably damaging	1.00
IGL02201:Plce1	APN	19	38,769,446 (GRCm38)	splice site	probably benign
IGL02276:Plce1	APN	19	38,524,757 (GRCm38)	missense	probably benign	0.05
IGL02477:Plce1	APN	19	38,719,553 (GRCm38)	splice site	probably benign
IGL02746:Plce1	APN	19	38,698,472 (GRCm38)	missense	probably damaging	1.00
Angel_food	UTSW	19	38,727,013 (GRCm38)	splice site	probably benign
Heavenly	UTSW	19	38,777,989 (GRCm38)	missense	probably damaging	1.00
R0058:Plce1	UTSW	19	38,525,184 (GRCm38)	missense	possibly damaging	0.90
R0058:Plce1	UTSW	19	38,525,184 (GRCm38)	missense	possibly damaging	0.90
R0064:Plce1	UTSW	19	38,780,784 (GRCm38)	critical splice donor site	probably null
R0116:Plce1	UTSW	19	38,721,821 (GRCm38)	missense	probably benign
R0138:Plce1	UTSW	19	38,524,419 (GRCm38)	missense	possibly damaging	0.49
R0240:Plce1	UTSW	19	38,728,886 (GRCm38)	missense	probably damaging	0.99
R0240:Plce1	UTSW	19	38,728,886 (GRCm38)	missense	probably damaging	0.99
R0504:Plce1	UTSW	19	38,778,021 (GRCm38)	splice site	probably benign
R0506:Plce1	UTSW	19	38,760,138 (GRCm38)	missense	probably benign	0.04
R0578:Plce1	UTSW	19	38,777,939 (GRCm38)	missense	probably damaging	1.00
R0645:Plce1	UTSW	19	38,777,989 (GRCm38)	missense	probably damaging	1.00
R0730:Plce1	UTSW	19	38,716,691 (GRCm38)	missense	probably damaging	0.98
R0920:Plce1	UTSW	19	38,736,521 (GRCm38)	missense	probably damaging	1.00
R1223:Plce1	UTSW	19	38,767,226 (GRCm38)	missense	probably damaging	1.00
R1223:Plce1	UTSW	19	38,702,013 (GRCm38)	missense	probably damaging	1.00
R1484:Plce1	UTSW	19	38,705,339 (GRCm38)	nonsense	probably null
R1488:Plce1	UTSW	19	38,716,803 (GRCm38)	missense	possibly damaging	0.92
R1598:Plce1	UTSW	19	38,720,996 (GRCm38)	missense	probably damaging	1.00
R1624:Plce1	UTSW	19	38,724,775 (GRCm38)	missense	probably damaging	1.00
R1732:Plce1	UTSW	19	38,716,838 (GRCm38)	missense	possibly damaging	0.56
R1778:Plce1	UTSW	19	38,780,790 (GRCm38)	splice site	probably benign
R1797:Plce1	UTSW	19	38,758,948 (GRCm38)	critical splice donor site	probably null
R1872:Plce1	UTSW	19	38,760,077 (GRCm38)	missense	probably damaging	1.00
R1876:Plce1	UTSW	19	38,780,623 (GRCm38)	missense	probably damaging	1.00
R1991:Plce1	UTSW	19	38,777,924 (GRCm38)	missense	probably damaging	1.00
R2080:Plce1	UTSW	19	38,727,013 (GRCm38)	splice site	probably benign
R2103:Plce1	UTSW	19	38,777,924 (GRCm38)	missense	probably damaging	1.00
R2376:Plce1	UTSW	19	38,777,986 (GRCm38)	missense	probably benign	0.02
R2471:Plce1	UTSW	19	38,779,926 (GRCm38)	missense	probably damaging	1.00
R2511:Plce1	UTSW	19	38,760,054 (GRCm38)	missense	probably damaging	1.00
R2842:Plce1	UTSW	19	38,524,283 (GRCm38)	missense	probably damaging	1.00
R3037:Plce1	UTSW	19	38,777,884 (GRCm38)	missense	probably damaging	0.98
R3104:Plce1	UTSW	19	38,620,519 (GRCm38)	missense	probably benign	0.00
R3700:Plce1	UTSW	19	38,705,337 (GRCm38)	missense	probably damaging	1.00
R3750:Plce1	UTSW	19	38,777,899 (GRCm38)	missense	probably benign
R3753:Plce1	UTSW	19	38,651,834 (GRCm38)	missense	probably benign	0.09
R4027:Plce1	UTSW	19	38,524,265 (GRCm38)	missense	probably damaging	1.00
R4057:Plce1	UTSW	19	38,760,119 (GRCm38)	missense	probably damaging	1.00
R4376:Plce1	UTSW	19	38,705,447 (GRCm38)	critical splice donor site	probably null
R4433:Plce1	UTSW	19	38,767,301 (GRCm38)	missense	probably damaging	1.00
R4520:Plce1	UTSW	19	38,524,319 (GRCm38)	missense	possibly damaging	0.46
R4521:Plce1	UTSW	19	38,524,319 (GRCm38)	missense	possibly damaging	0.46
R4522:Plce1	UTSW	19	38,524,319 (GRCm38)	missense	possibly damaging	0.46
R4524:Plce1	UTSW	19	38,524,319 (GRCm38)	missense	possibly damaging	0.46
R4650:Plce1	UTSW	19	38,524,644 (GRCm38)	missense	probably benign	0.30
R4673:Plce1	UTSW	19	38,749,396 (GRCm38)	missense	possibly damaging	0.51
R4701:Plce1	UTSW	19	38,725,007 (GRCm38)	missense	probably benign	0.33
R4828:Plce1	UTSW	19	38,769,499 (GRCm38)	missense	probably damaging	1.00
R5103:Plce1	UTSW	19	38,767,215 (GRCm38)	missense	probably damaging	1.00
R5112:Plce1	UTSW	19	38,651,833 (GRCm38)	missense	probably benign	0.00
R5236:Plce1	UTSW	19	38,770,347 (GRCm38)	missense	probably benign	0.11
R5268:Plce1	UTSW	19	38,758,835 (GRCm38)	missense	possibly damaging	0.71
R5288:Plce1	UTSW	19	38,760,091 (GRCm38)	missense	probably damaging	1.00
R5384:Plce1	UTSW	19	38,760,091 (GRCm38)	missense	probably damaging	1.00
R5386:Plce1	UTSW	19	38,760,091 (GRCm38)	missense	probably damaging	1.00
R5448:Plce1	UTSW	19	38,779,917 (GRCm38)	missense	probably damaging	1.00
R5452:Plce1	UTSW	19	38,620,482 (GRCm38)	missense	probably benign	0.01
R6004:Plce1	UTSW	19	38,721,871 (GRCm38)	missense	probably damaging	1.00
R6062:Plce1	UTSW	19	38,524,751 (GRCm38)	missense	probably benign
R6147:Plce1	UTSW	19	38,702,037 (GRCm38)	missense	probably damaging	1.00
R6247:Plce1	UTSW	19	38,745,845 (GRCm38)	missense	probably damaging	1.00
R6278:Plce1	UTSW	19	38,725,051 (GRCm38)	splice site	probably null
R6306:Plce1	UTSW	19	38,769,465 (GRCm38)	missense	probably damaging	1.00
R6317:Plce1	UTSW	19	38,524,530 (GRCm38)	nonsense	probably null
R6437:Plce1	UTSW	19	38,525,132 (GRCm38)	missense	probably benign	0.39
R6522:Plce1	UTSW	19	38,748,521 (GRCm38)	splice site	probably null
R7034:Plce1	UTSW	19	38,739,357 (GRCm38)	missense	probably damaging	1.00
R7036:Plce1	UTSW	19	38,739,357 (GRCm38)	missense	probably damaging	1.00
R7037:Plce1	UTSW	19	38,702,017 (GRCm38)	missense	probably damaging	1.00
R7069:Plce1	UTSW	19	38,758,940 (GRCm38)	missense	probably damaging	1.00
R7180:Plce1	UTSW	19	38,779,785 (GRCm38)	missense	probably damaging	1.00
R7189:Plce1	UTSW	19	38,760,137 (GRCm38)	missense	probably damaging	0.97
R7227:Plce1	UTSW	19	38,726,902 (GRCm38)	missense	probably benign	0.00
R7253:Plce1	UTSW	19	38,698,508 (GRCm38)	missense	probably damaging	1.00
R7278:Plce1	UTSW	19	38,779,896 (GRCm38)	missense	possibly damaging	0.58
R7287:Plce1	UTSW	19	38,701,903 (GRCm38)	missense	probably benign	0.02
R7422:Plce1	UTSW	19	38,651,885 (GRCm38)	missense	probably damaging	1.00
R7557:Plce1	UTSW	19	38,765,404 (GRCm38)	missense	probably benign	0.30
R7607:Plce1	UTSW	19	38,524,752 (GRCm38)	missense	probably benign
R7615:Plce1	UTSW	19	38,524,665 (GRCm38)	missense	probably benign	0.18
R7653:Plce1	UTSW	19	38,749,319 (GRCm38)	missense	probably benign	0.20
R7685:Plce1	UTSW	19	38,748,433 (GRCm38)	missense	probably benign	0.00
R7716:Plce1	UTSW	19	38,716,851 (GRCm38)	missense	probably benign
R7744:Plce1	UTSW	19	38,620,455 (GRCm38)	missense	possibly damaging	0.93
R7790:Plce1	UTSW	19	38,780,696 (GRCm38)	missense	probably damaging	0.97
R7921:Plce1	UTSW	19	38,620,553 (GRCm38)	missense	probably benign	0.03
R8070:Plce1	UTSW	19	38,701,839 (GRCm38)	missense	probably damaging	0.99
R8087:Plce1	UTSW	19	38,736,521 (GRCm38)	missense	probably damaging	1.00
R8116:Plce1	UTSW	19	38,524,818 (GRCm38)	missense	probably benign	0.32
R8178:Plce1	UTSW	19	38,772,979 (GRCm38)	missense	possibly damaging	0.93
R8321:Plce1	UTSW	19	38,651,936 (GRCm38)	missense	probably benign	0.00
R8416:Plce1	UTSW	19	38,772,997 (GRCm38)	missense	possibly damaging	0.77
R8544:Plce1	UTSW	19	38,524,459 (GRCm38)	missense	probably benign	0.00
R8850:Plce1	UTSW	19	38,524,367 (GRCm38)	missense	probably benign
R9217:Plce1	UTSW	19	38,760,107 (GRCm38)	missense	probably damaging	1.00
R9231:Plce1	UTSW	19	38,716,596 (GRCm38)	missense	probably benign	0.13
R9232:Plce1	UTSW	19	38,716,979 (GRCm38)	missense	probably benign	0.16
R9332:Plce1	UTSW	19	38,737,933 (GRCm38)	missense	probably damaging	1.00
R9473:Plce1	UTSW	19	38,777,893 (GRCm38)	missense	possibly damaging	0.93
R9474:Plce1	UTSW	19	38,777,893 (GRCm38)	missense	possibly damaging	0.93
R9475:Plce1	UTSW	19	38,777,893 (GRCm38)	missense	possibly damaging	0.93
R9476:Plce1	UTSW	19	38,777,893 (GRCm38)	missense	possibly damaging	0.93
R9751:Plce1	UTSW	19	38,728,970 (GRCm38)	missense	probably damaging	1.00
R9780:Plce1	UTSW	19	38,620,690 (GRCm38)	missense	possibly damaging	0.94
R9781:Plce1	UTSW	19	38,525,210 (GRCm38)	missense	probably damaging	1.00
RF018:Plce1	UTSW	19	38,717,207 (GRCm38)	missense	probably damaging	0.99
X0022:Plce1	UTSW	19	38,726,999 (GRCm38)	missense	probably damaging	1.00
X0065:Plce1	UTSW	19	38,777,914 (GRCm38)	missense	possibly damaging	0.48
Z1176:Plce1	UTSW	19	38,769,460 (GRCm38)	missense	probably damaging	1.00
Z1176:Plce1	UTSW	19	38,724,980 (GRCm38)	nonsense	probably null
Z1176:Plce1	UTSW	19	38,701,894 (GRCm38)	missense	probably damaging	1.00
Z1177:Plce1	UTSW	19	38,651,842 (GRCm38)	missense	probably null	0.48

Predicted Primers

PCR Primer
(F):5'- TTCCTTCTCCCCTGGAAAGGAAG -3'
(R):5'- AGACCTCATCGGCCTTTGAG -3'

Sequencing Primer
(F):5'- CTCCCTGGAATTCAACTGGAGATG -3'
(R):5'- TCATCGGCCTTTGAGCAGGAG -3'

Posted On

2021-04-30