Incidental Mutation 'R8713:Plce1'
ID 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 19
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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