Mutagenetix > Incidental Mutation

Incidental Mutation 'R4521:Plce1'

334245

Institutional Source

Beutler Lab

Gene Symbol

Plce1

Ensembl Gene

ENSMUSG00000024998

Gene Name

phospholipase C, epsilon 1

Synonyms

PLCepsilon, 4933403A21Rik

MMRRC Submission

041764-MU

Accession Numbers

Essential gene?

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

Stock #

R4521 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38469557-38773474 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38512763 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 21 (S21P)

Ref Sequence

ENSEMBL: ENSMUSP00000138360 (fasta)

Gene Model

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

AlphaFold

Q8K4S1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169713
AA Change: S21P

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000130604
Gene: ENSMUSG00000024998
AA Change: S21P

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

noncoding transcript
Transcript: ENSMUST00000181994

Predicted Effect

probably benign
Transcript: ENSMUST00000182267
AA Change: S21P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000138330
Gene: ENSMUSG00000024998
AA Change: S21P

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: S21P

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000138360
Gene: ENSMUSG00000024998
AA Change: S21P

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

0.0813

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

100% (49/49)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ascc3	A	G	10: 50,536,766 (GRCm39)	N700D	probably benign	Het
Bora	G	T	14: 99,305,984 (GRCm39)	S451I	probably damaging	Het
Cadm3	A	T	1: 173,172,630 (GRCm39)		probably null	Het
Car14	A	G	3: 95,811,690 (GRCm39)		probably benign	Het
Ccdc88c	G	T	12: 100,879,591 (GRCm39)	S1843R	possibly damaging	Het
Cdc20b	A	G	13: 113,217,725 (GRCm39)	I381M	probably damaging	Het
Col12a1	C	T	9: 79,540,639 (GRCm39)	V2449I	probably benign	Het
Crb2	T	C	2: 37,685,349 (GRCm39)		probably benign	Het
Dcaf6	A	T	1: 165,218,059 (GRCm39)	D347E	probably damaging	Het
Dlgap2	G	A	8: 14,777,871 (GRCm39)	R372H	probably damaging	Het
Fat3	T	C	9: 15,834,238 (GRCm39)	N4118S	probably null	Het
Fbxo41	A	G	6: 85,461,024 (GRCm39)	I228T	probably damaging	Het
Fpr2	A	C	17: 18,113,509 (GRCm39)	R168S	probably benign	Het
Ghr	A	G	15: 3,355,440 (GRCm39)	I281T	probably damaging	Het
Glmp	C	A	3: 88,235,346 (GRCm39)	N259K	possibly damaging	Het
Grhl3	T	C	4: 135,273,561 (GRCm39)	K564E	probably damaging	Het
Helz2	T	C	2: 180,870,626 (GRCm39)	H2875R	probably benign	Het
Lcp1	A	G	14: 75,452,608 (GRCm39)	D438G	possibly damaging	Het
Lrfn2	T	A	17: 49,376,922 (GRCm39)	M1K	probably null	Het
Lrp6	A	G	6: 134,462,825 (GRCm39)	C612R	probably damaging	Het
Map3k13	T	C	16: 21,724,525 (GRCm39)	V341A	possibly damaging	Het
Megf8	T	A	7: 25,042,126 (GRCm39)	C1315S	probably benign	Het
Mrgpra9	A	T	7: 46,884,938 (GRCm39)	L243H	probably damaging	Het
Mrgprx1	T	C	7: 47,671,447 (GRCm39)	D100G	probably benign	Het
Nop2	G	T	6: 125,110,515 (GRCm39)	R47L	probably damaging	Het
Nup93	T	C	8: 95,041,264 (GRCm39)	Y801H	probably damaging	Het
Or51b6b	C	T	7: 103,309,539 (GRCm39)	R306H	probably benign	Het
Or6c69b	T	A	10: 129,627,050 (GRCm39)	N136I	possibly damaging	Het
Orc4	G	A	2: 48,827,501 (GRCm39)	P31S	probably benign	Het
Plpp2	A	G	10: 79,366,459 (GRCm39)	Y118H	probably damaging	Het
Ppwd1	A	G	13: 104,346,167 (GRCm39)	V496A	probably benign	Het
Rbm20	A	G	19: 53,805,633 (GRCm39)	N466S	probably benign	Het
Rpl10l	T	C	12: 66,330,512 (GRCm39)	D207G	probably benign	Het
Skida1	T	C	2: 18,050,683 (GRCm39)		probably benign	Het
Stk17b	A	G	1: 53,803,197 (GRCm39)	Y73H	probably damaging	Het
Tapbpl	A	G	6: 125,205,085 (GRCm39)	I287T	probably damaging	Het
Tmem38a	C	T	8: 73,326,005 (GRCm39)	P20S	possibly damaging	Het
Topbp1	T	C	9: 103,211,401 (GRCm39)		probably benign	Het
Tsen54	G	A	11: 115,707,932 (GRCm39)		probably null	Het
Ttn	G	A	2: 76,555,560 (GRCm39)	R28736*	probably null	Het
Wdr36	G	A	18: 32,974,201 (GRCm39)		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
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
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'- AGCTTGCTTCGCACAAAGAC -3'
(R):5'- TAAACTGTTGCCGTTCATCGC -3'

Sequencing Primer
(F):5'- GCTTCGCACAAAGACTGGAATTATC -3'
(R):5'- CGTTGGAATTCTCATCGCAGACTAG -3'

Posted On

2015-08-18