Mutagenetix > Incidental Mutation

Incidental Mutation 'R3700:Plce1'

269984

Institutional Source

Beutler Lab

Gene Symbol

Plce1

Ensembl Gene

ENSMUSG00000024998

Gene Name

phospholipase C, epsilon 1

Synonyms

PLCepsilon, 4933403A21Rik

MMRRC Submission

040693-MU

Accession Numbers

Essential gene?

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

Stock #

R3700 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38469557-38773474 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38693781 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 768 (F768Y)

Ref Sequence

ENSEMBL: ENSMUSP00000138360 (fasta)

Gene Model

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

AlphaFold

Q8K4S1

Predicted Effect

probably damaging
Transcript: ENSMUST00000169713
AA Change: F768Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000130604
Gene: ENSMUSG00000024998
AA Change: F768Y

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 damaging
Transcript: ENSMUST00000182267
AA Change: F768Y

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138330
Gene: ENSMUSG00000024998
AA Change: F768Y

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: F768Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000138360
Gene: ENSMUSG00000024998
AA Change: F768Y

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

0.1435

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

98% (51/52)

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
Alpk2	G	A	18: 65,438,222 (GRCm39)	T1524I	probably damaging	Het
Ankrd29	G	A	18: 12,387,757 (GRCm39)	A275V	possibly damaging	Het
Arhgap26	T	A	18: 39,253,237 (GRCm39)	F221L	probably damaging	Het
Arhgap28	T	C	17: 68,208,361 (GRCm39)	S36G	probably damaging	Het
Bcl11a	A	G	11: 24,113,890 (GRCm39)	D411G	probably damaging	Het
Cdh23	C	A	10: 60,163,149 (GRCm39)		probably null	Het
Cnnm2	T	A	19: 46,750,990 (GRCm39)	I260N	probably damaging	Het
Coro6	T	C	11: 77,358,129 (GRCm39)	F238S	probably damaging	Het
Ddah1	G	A	3: 145,597,250 (GRCm39)	M162I	probably benign	Het
Dnah5	T	C	15: 28,387,937 (GRCm39)	I3132T	possibly damaging	Het
Drgx	A	T	14: 32,350,818 (GRCm39)	E218V	probably damaging	Het
Dync2i1	C	T	12: 116,175,462 (GRCm39)	W905*	probably null	Het
Eif3f	A	T	7: 108,539,482 (GRCm39)	I251F	probably benign	Het
Ephx4	T	C	5: 107,550,673 (GRCm39)	F11L	probably benign	Het
Esp1	T	C	17: 41,041,998 (GRCm39)	S97P	unknown	Het
Fbxw10	A	T	11: 62,759,983 (GRCm39)		probably null	Het
Hsp90ab1	T	C	17: 45,882,440 (GRCm39)	T85A	possibly damaging	Het
Idh2	T	C	7: 79,748,895 (GRCm39)	K129E	probably damaging	Het
Kcnj6	A	G	16: 94,633,865 (GRCm39)	I64T	probably damaging	Het
Klk1b5	T	A	7: 43,500,251 (GRCm39)	C280S	probably damaging	Het
Lhx2	T	A	2: 38,250,111 (GRCm39)	L269H	probably damaging	Het
Lrrc71	T	A	3: 87,653,185 (GRCm39)		probably null	Het
Lss	T	A	10: 76,382,026 (GRCm39)	L484Q	probably damaging	Het
Mmp14	G	A	14: 54,669,389 (GRCm39)		probably benign	Het
Muc5b	A	G	7: 141,400,986 (GRCm39)	T534A	unknown	Het
Mysm1	T	C	4: 94,858,889 (GRCm39)	K87E	probably benign	Het
Or6d13	T	A	6: 116,517,489 (GRCm39)	V25E	probably benign	Het
Or6f2	C	G	7: 139,756,127 (GRCm39)	F37L	possibly damaging	Het
Pcolce	T	C	5: 137,607,309 (GRCm39)	T61A	probably damaging	Het
Phc3	C	A	3: 30,968,277 (GRCm39)	D920Y	probably damaging	Het
Pi4kb	T	C	3: 94,901,599 (GRCm39)	I422T	probably benign	Het
Piezo1	C	T	8: 123,221,642 (GRCm39)	R584H	probably damaging	Het
Ppp1r21	T	C	17: 88,889,882 (GRCm39)	S709P	possibly damaging	Het
Prdx6	T	C	1: 161,074,858 (GRCm39)	D74G	probably damaging	Het
Rlf	A	G	4: 121,008,060 (GRCm39)	F307L	possibly damaging	Het
Skic2	T	C	17: 35,068,879 (GRCm39)	E40G	probably benign	Het
Snapin	G	A	3: 90,397,499 (GRCm39)	R91*	probably null	Het
Sort1	T	A	3: 108,263,955 (GRCm39)	L838*	probably null	Het
Sstr4	A	G	2: 148,238,273 (GRCm39)	I295V	possibly damaging	Het
Stk39	T	A	2: 68,222,462 (GRCm39)	I201F	probably damaging	Het
Tasp1	T	C	2: 139,752,474 (GRCm39)	T322A	probably benign	Het
Tepsin	C	T	11: 119,982,579 (GRCm39)	C491Y	possibly damaging	Het
Tlr9	G	A	9: 106,101,278 (GRCm39)	V190M	probably damaging	Het
Ttf2	A	G	3: 100,858,324 (GRCm39)	L755P	probably damaging	Het
Txn2	G	A	15: 77,811,976 (GRCm39)	T60M	possibly damaging	Het
Vmn1r10	A	G	6: 57,091,287 (GRCm39)	N293S	probably benign	Het
Vmn1r232	A	G	17: 21,134,465 (GRCm39)	L45P	probably benign	Het
Vmn2r111	C	T	17: 22,790,142 (GRCm39)	W288*	probably null	Het
Vmn2r118	T	C	17: 55,915,421 (GRCm39)	S510G	possibly damaging	Het
Zgpat	T	A	2: 181,007,439 (GRCm39)		probably benign	Het
Zzef1	G	T	11: 72,777,598 (GRCm39)	G1810C	probably null	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
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'- ACCACTGTTTTGATTTAGGTCACC -3'
(R):5'- AAGCAGCCTTGGTTAAGCAAG -3'

Sequencing Primer
(F):5'- CACCTAGATGTATGTTGTTCAGACC -3'
(R):5'- AACATACTCGCTGGCGC -3'

Posted On

2015-03-18