Incidental Mutation 'R8786:Plcd3'
ID 670648
Institutional Source Beutler Lab
Gene Symbol Plcd3
Ensembl Gene ENSMUSG00000020937
Gene Name phospholipase C, delta 3
Synonyms 2610205J15Rik
MMRRC Submission 068632-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.723) question?
Stock # R8786 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 102961130-102992484 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 102962569 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 627 (N627K)
Ref Sequence ENSEMBL: ENSMUSP00000099366 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021314] [ENSMUST00000103077]
AlphaFold Q8K2J0
Predicted Effect probably benign
Transcript: ENSMUST00000021314
SMART Domains Protein: ENSMUSP00000021314
Gene: ENSMUSG00000020936

DomainStartEndE-ValueType
low complexity region 55 67 N/A INTRINSIC
Pfam:NMT 137 294 6.7e-77 PFAM
Pfam:NMT_C 308 495 1.4e-85 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000103077
AA Change: N627K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099366
Gene: ENSMUSG00000020937
AA Change: N627K

DomainStartEndE-ValueType
low complexity region 8 19 N/A INTRINSIC
low complexity region 23 38 N/A INTRINSIC
PH 61 170 4.07e-5 SMART
Pfam:EF-hand_10 197 246 1.8e-27 PFAM
Pfam:EF-hand_like 251 332 2.6e-24 PFAM
PLCXc 333 478 7.75e-85 SMART
low complexity region 495 512 N/A INTRINSIC
PLCYc 524 640 3.96e-50 SMART
C2 657 763 1.05e-14 SMART
Predicted Effect
SMART Domains Protein: ENSMUSP00000117455
Gene: ENSMUSG00000020937
AA Change: N312K

DomainStartEndE-ValueType
low complexity region 8 18 N/A INTRINSIC
PLCXc 19 164 7.75e-85 SMART
coiled coil region 172 206 N/A INTRINSIC
PLCYc 210 326 3.96e-50 SMART
C2 343 449 1.05e-14 SMART
Meta Mutation Damage Score 0.6329 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (72/72)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the phospholipase C family, which catalyze the hydrolysis of phosphatidylinositol 4,5-bisphosphate to generate the second messengers diacylglycerol and inositol 1,4,5-trisphosphate (IP3). Diacylglycerol and IP3 mediate a variety of cellular responses to extracellular stimuli by inducing protein kinase C and increasing cytosolic Ca(2+) concentrations. This enzyme localizes to the plasma membrane and requires calcium for activation. Its activity is inhibited by spermine, sphingosine, and several phospholipids. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl4 A T 3: 95,592,784 (GRCm39) M1K probably null Het
Atg2a G T 19: 6,294,460 (GRCm39) V59L probably damaging Het
Atxn7 C A 14: 14,103,316 (GRCm38) T888K possibly damaging Het
Btbd9 T C 17: 30,749,144 (GRCm39) R57G probably damaging Het
Catspere2 T A 1: 177,843,362 (GRCm39) probably benign Het
Catspere2 G A 1: 177,843,555 (GRCm39) probably benign Het
Ccdc9b C A 2: 118,587,732 (GRCm39) S534I unknown Het
Crp T C 1: 172,526,293 (GRCm39) V126A probably benign Het
Csf1r A T 18: 61,247,942 (GRCm39) T337S probably damaging Het
Dcaf12 T C 4: 41,296,439 (GRCm39) N299S probably damaging Het
Dcaf17 T C 2: 70,917,744 (GRCm39) probably null Het
Dip2c A G 13: 9,665,830 (GRCm39) D985G probably damaging Het
Dtna A G 18: 23,716,190 (GRCm39) T138A probably benign Het
Emid1 T C 11: 5,081,517 (GRCm39) D212G probably benign Het
Epyc G A 10: 97,511,525 (GRCm39) D173N probably damaging Het
Fanci A G 7: 79,052,298 (GRCm39) D162G probably benign Het
Firrm A T 1: 163,792,040 (GRCm39) L626Q probably damaging Het
Fry T C 5: 150,317,501 (GRCm39) V827A probably benign Het
Ggps1 T C 13: 14,228,505 (GRCm39) E226G probably benign Het
Gopc G A 10: 52,230,750 (GRCm39) R183* probably null Het
Grik4 C T 9: 42,453,130 (GRCm39) G752S probably damaging Het
H2-D1 T A 17: 35,482,844 (GRCm39) C125S probably damaging Het
H2-Q1 T A 17: 35,539,869 (GRCm39) V46D probably damaging Het
Hsd17b3 T C 13: 64,219,862 (GRCm39) N126S probably damaging Het
Igsf10 G A 3: 59,238,063 (GRCm39) T706I probably benign Het
Kmt2e A G 5: 23,669,864 (GRCm39) D117G probably damaging Het
Kmt5a C T 5: 124,584,074 (GRCm39) A18V probably benign Het
Krtap29-1 C T 11: 99,869,465 (GRCm39) G139R probably damaging Het
Lama5 T C 2: 179,838,100 (GRCm39) Y872C probably damaging Het
Lrriq4 T A 3: 30,704,752 (GRCm39) M260K probably benign Het
Map2 G A 1: 66,472,755 (GRCm39) probably benign Het
Mrpl51 C T 6: 125,169,340 (GRCm39) A8V probably benign Het
Ndufs3 T C 2: 90,732,778 (GRCm39) T103A probably benign Het
Numa1 T G 7: 101,647,616 (GRCm39) L449R probably benign Het
Or10g3b C T 14: 52,587,021 (GRCm39) A161T possibly damaging Het
Pan3 C T 5: 147,424,951 (GRCm39) P295S possibly damaging Het
Pds5b T C 5: 150,704,134 (GRCm39) S846P probably damaging Het
Phf2 A T 13: 48,967,219 (GRCm39) M712K unknown Het
Phlda2 A T 7: 143,056,211 (GRCm39) V6E probably benign Het
Pkdrej C A 15: 85,704,044 (GRCm39) A631S probably benign Het
Prpf6 T C 2: 181,262,415 (GRCm39) I138T possibly damaging Het
Psd4 G A 2: 24,295,444 (GRCm39) S866N probably benign Het
Ptprb A C 10: 116,155,306 (GRCm39) T400P probably benign Het
Rxfp1 T C 3: 79,570,677 (GRCm39) probably null Het
Sbf2 A G 7: 110,063,793 (GRCm39) probably null Het
Serpinb9h G A 13: 33,588,204 (GRCm39) R263H probably benign Het
Setd4 C T 16: 93,390,162 (GRCm39) R89Q probably benign Het
Sgpp1 A G 12: 75,763,152 (GRCm39) I343T probably benign Het
Sh2b2 T C 5: 136,260,658 (GRCm39) D186G probably benign Het
Slc12a4 A T 8: 106,680,549 (GRCm39) I191N probably damaging Het
Slc4a4 A T 5: 89,232,549 (GRCm39) D251V probably benign Het
Slc6a5 A T 7: 49,561,843 (GRCm39) D125V possibly damaging Het
Slf1 T A 13: 77,274,806 (GRCm39) I16F possibly damaging Het
Sncaip T C 18: 53,031,334 (GRCm39) V521A probably damaging Het
Spmip10 T C 18: 56,727,568 (GRCm39) F89L probably damaging Het
Stx19 T C 16: 62,642,775 (GRCm39) L197P probably damaging Het
Sucla2 A G 14: 73,797,905 (GRCm39) N39D probably benign Het
Sult1d1 T A 5: 87,712,575 (GRCm39) T90S probably benign Het
Syna C T 5: 134,588,723 (GRCm39) M75I probably benign Het
Tas2r138 A G 6: 40,589,611 (GRCm39) S212P probably damaging Het
Tdrd3 T A 14: 87,709,637 (GRCm39) C106* probably null Het
Tlk2 C T 11: 105,172,059 (GRCm39) A743V unknown Het
Tlr3 T C 8: 45,851,286 (GRCm39) D537G possibly damaging Het
Tmc1 A G 19: 20,803,953 (GRCm39) Y375H probably damaging Het
Tsen54 T A 11: 115,711,498 (GRCm39) M305K probably damaging Het
Umod C T 7: 119,076,581 (GRCm39) V62M possibly damaging Het
Vmn1r10 A G 6: 57,091,010 (GRCm39) T201A probably benign Het
Vmn1r103 T C 7: 20,243,676 (GRCm39) T262A probably benign Het
Vmn2r100 T C 17: 19,742,838 (GRCm39) V404A probably damaging Het
Vmn2r56 A G 7: 12,449,393 (GRCm39) F282L probably damaging Het
Wdr64 A T 1: 175,636,327 (GRCm39) K982* probably null Het
Xpo6 A T 7: 125,712,127 (GRCm39) probably benign Het
Other mutations in Plcd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01285:Plcd3 APN 11 102,968,696 (GRCm39) missense probably benign 0.16
IGL01906:Plcd3 APN 11 102,967,682 (GRCm39) missense probably damaging 1.00
IGL02325:Plcd3 APN 11 102,971,447 (GRCm39) nonsense probably null
IGL02634:Plcd3 APN 11 102,968,653 (GRCm39) missense probably damaging 1.00
IGL02852:Plcd3 APN 11 102,964,631 (GRCm39) missense probably damaging 1.00
IGL03025:Plcd3 APN 11 102,965,724 (GRCm39) missense probably benign 0.24
IGL02837:Plcd3 UTSW 11 102,961,929 (GRCm39) missense possibly damaging 0.92
IGL02988:Plcd3 UTSW 11 102,967,568 (GRCm39) missense probably benign
R0055:Plcd3 UTSW 11 102,968,411 (GRCm39) missense probably damaging 1.00
R0055:Plcd3 UTSW 11 102,968,411 (GRCm39) missense probably damaging 1.00
R0062:Plcd3 UTSW 11 102,965,720 (GRCm39) missense probably benign
R0452:Plcd3 UTSW 11 102,962,085 (GRCm39) unclassified probably benign
R0529:Plcd3 UTSW 11 102,971,013 (GRCm39) missense probably benign 0.00
R0556:Plcd3 UTSW 11 102,968,632 (GRCm39) missense probably damaging 1.00
R1463:Plcd3 UTSW 11 102,969,199 (GRCm39) missense probably damaging 1.00
R1752:Plcd3 UTSW 11 102,971,085 (GRCm39) missense probably benign 0.01
R2157:Plcd3 UTSW 11 102,961,974 (GRCm39) missense probably benign
R2519:Plcd3 UTSW 11 102,971,226 (GRCm39) missense possibly damaging 0.80
R3809:Plcd3 UTSW 11 102,992,209 (GRCm39) missense probably null 0.03
R4167:Plcd3 UTSW 11 102,969,290 (GRCm39) missense probably damaging 0.98
R5100:Plcd3 UTSW 11 102,969,175 (GRCm39) missense probably benign
R5387:Plcd3 UTSW 11 102,969,281 (GRCm39) missense probably damaging 1.00
R5589:Plcd3 UTSW 11 102,968,629 (GRCm39) missense probably benign 0.01
R5700:Plcd3 UTSW 11 102,964,589 (GRCm39) missense probably benign 0.00
R5754:Plcd3 UTSW 11 102,964,592 (GRCm39) missense possibly damaging 0.67
R5936:Plcd3 UTSW 11 102,969,173 (GRCm39) missense probably damaging 1.00
R6059:Plcd3 UTSW 11 102,971,227 (GRCm39) missense possibly damaging 0.80
R6102:Plcd3 UTSW 11 102,971,470 (GRCm39) missense probably damaging 0.99
R6480:Plcd3 UTSW 11 102,965,757 (GRCm39) missense possibly damaging 0.79
R6481:Plcd3 UTSW 11 102,968,593 (GRCm39) missense probably damaging 1.00
R6566:Plcd3 UTSW 11 102,964,626 (GRCm39) missense probably damaging 1.00
R7098:Plcd3 UTSW 11 102,968,689 (GRCm39) missense probably damaging 1.00
R7165:Plcd3 UTSW 11 102,970,439 (GRCm39) missense probably damaging 1.00
R7392:Plcd3 UTSW 11 102,992,383 (GRCm39) unclassified probably benign
R7484:Plcd3 UTSW 11 102,962,545 (GRCm39) missense probably damaging 1.00
R7606:Plcd3 UTSW 11 102,967,683 (GRCm39) missense probably damaging 1.00
R7777:Plcd3 UTSW 11 102,965,481 (GRCm39) missense probably benign 0.33
R7857:Plcd3 UTSW 11 102,968,760 (GRCm39) missense probably benign 0.12
R8349:Plcd3 UTSW 11 102,965,496 (GRCm39) missense probably damaging 1.00
R8449:Plcd3 UTSW 11 102,965,496 (GRCm39) missense probably damaging 1.00
R8848:Plcd3 UTSW 11 102,971,446 (GRCm39) missense probably benign 0.00
R8894:Plcd3 UTSW 11 102,962,592 (GRCm39) missense probably damaging 1.00
R8983:Plcd3 UTSW 11 102,962,092 (GRCm39) missense possibly damaging 0.73
R9252:Plcd3 UTSW 11 102,968,380 (GRCm39) nonsense probably null
R9253:Plcd3 UTSW 11 102,970,460 (GRCm39) missense probably benign 0.05
X0023:Plcd3 UTSW 11 102,971,034 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACACTGTCCTTCCTGCACAAATG -3'
(R):5'- AGGGACTGGGCATTACCATC -3'

Sequencing Primer
(F):5'- ACAAATGCTCACCCGTGGG -3'
(R):5'- GGGCATTACCATCTGTCCAG -3'
Posted On 2021-04-30