Incidental Mutation 'R8894:Plcd3'
ID 677905
Institutional Source Beutler Lab
Gene Symbol Plcd3
Ensembl Gene ENSMUSG00000020937
Gene Name phospholipase C, delta 3
Synonyms 2610205J15Rik
MMRRC Submission 068697-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.723) question?
Stock # R8894 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 102961130-102992484 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 102962592 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 620 (N620Y)
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: N620Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099366
Gene: ENSMUSG00000020937
AA Change: N620Y

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: N305Y

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (63/64)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931429L15Rik C T 9: 46,216,397 (GRCm39) V291M probably benign Het
Abca14 A C 7: 119,847,368 (GRCm39) Y744S probably damaging Het
Acly T C 11: 100,407,639 (GRCm39) E237G probably benign Het
Adcy1 T A 11: 7,087,375 (GRCm39) D416E probably damaging Het
Arid1b T A 17: 5,377,668 (GRCm39) M1217K probably damaging Het
Atad2b T C 12: 5,064,001 (GRCm39) probably null Het
Ccdc177 A G 12: 80,806,077 (GRCm39) S66P probably damaging Het
Clpsl2 T C 17: 28,769,645 (GRCm39) C36R possibly damaging Het
Cramp1 C T 17: 25,202,114 (GRCm39) G456D probably damaging Het
Crb1 T A 1: 139,175,750 (GRCm39) L744F possibly damaging Het
Crybg3 T A 16: 59,342,552 (GRCm39) E980D probably damaging Het
Cyp2d11 A T 15: 82,274,671 (GRCm39) V302E probably benign Het
Cyp3a25 A C 5: 145,931,670 (GRCm39) probably benign Het
Dhx35 G C 2: 158,676,795 (GRCm39) A410P possibly damaging Het
Dlg2 A T 7: 91,614,946 (GRCm39) H295L probably benign Het
Dnah2 T A 11: 69,383,048 (GRCm39) M1172L probably benign Het
Dock9 T C 14: 121,860,373 (GRCm39) S850G probably benign Het
Dst A T 1: 34,213,214 (GRCm39) M1369L possibly damaging Het
Fcrl6 T C 1: 172,426,856 (GRCm39) N30S probably benign Het
Fibp A T 19: 5,513,309 (GRCm39) Q208L probably benign Het
Foxc1 T G 13: 31,992,205 (GRCm39) S339A unknown Het
Fras1 T C 5: 96,907,402 (GRCm39) C3196R probably damaging Het
Galnt7 C T 8: 57,979,176 (GRCm39) W649* probably null Het
H2-M10.2 T C 17: 36,595,555 (GRCm39) N245S possibly damaging Het
Hapln3 G A 7: 78,767,239 (GRCm39) R267W probably benign Het
Hkdc1 T C 10: 62,244,400 (GRCm39) I229V probably damaging Het
Kank1 G A 19: 25,408,378 (GRCm39) G1286R probably damaging Het
Krba1 A G 6: 48,388,629 (GRCm39) I543V probably damaging Het
Lipn A T 19: 34,062,248 (GRCm39) *401L probably null Het
Lrrc37a T C 11: 103,347,449 (GRCm39) N3082S unknown Het
Magi1 A T 6: 93,663,586 (GRCm39) F1117Y probably benign Het
Man2a1 A G 17: 65,020,596 (GRCm39) K791E probably benign Het
Mindy4 T C 6: 55,255,223 (GRCm39) L567P probably benign Het
Mpp4 A G 1: 59,197,743 (GRCm39) probably null Het
Muc2 T G 7: 141,280,758 (GRCm39) C371W probably damaging Het
Nebl A T 2: 17,380,036 (GRCm39) N779K probably benign Het
Nf1 T C 11: 79,336,619 (GRCm39) L1066P probably damaging Het
Npat T C 9: 53,467,951 (GRCm39) L302P probably damaging Het
Nudt21 C A 8: 94,755,498 (GRCm39) G146W probably damaging Het
Or10al6 T A 17: 38,082,940 (GRCm39) I132K probably damaging Het
Or10g1 A T 14: 52,647,465 (GRCm39) L288Q probably damaging Het
Or4c11c T G 2: 88,661,809 (GRCm39) M116R probably benign Het
Or8c13 A T 9: 38,091,370 (GRCm39) F250I probably damaging Het
Pkd2l2 T C 18: 34,571,273 (GRCm39) probably benign Het
Ppl T C 16: 4,925,206 (GRCm39) probably benign Het
Pramel41 T G 5: 94,596,399 (GRCm39) C479G probably damaging Het
Prep T C 10: 45,034,620 (GRCm39) *711Q probably null Het
Psap T A 10: 60,135,736 (GRCm39) V394E possibly damaging Het
Ptprr T A 10: 115,884,250 (GRCm39) D102E probably benign Het
Rgsl1 T A 1: 153,698,119 (GRCm39) probably null Het
Rimbp2 T A 5: 128,850,454 (GRCm39) D943V possibly damaging Het
Rsrc2 G T 5: 123,878,793 (GRCm39) R113S unknown Het
Sim1 T A 10: 50,786,626 (GRCm39) V286E possibly damaging Het
Slc35d1 A T 4: 103,068,529 (GRCm39) F124L Het
Sort1 T C 3: 108,246,228 (GRCm39) F402L probably damaging Het
Spata31f1a A G 4: 42,853,688 (GRCm39) C47R possibly damaging Het
Tlr2 T A 3: 83,744,091 (GRCm39) E664V probably damaging Het
Tmppe A T 9: 114,230,260 (GRCm39) probably benign Het
Tnfrsf8 T C 4: 145,001,038 (GRCm39) D356G possibly damaging Het
Tnrc18 T C 5: 142,725,212 (GRCm39) E1839G unknown Het
Trgv4 T C 13: 19,369,627 (GRCm39) S124P probably damaging Het
Trim17 T A 11: 58,859,536 (GRCm39) M250K probably benign Het
Trim33 C T 3: 103,218,807 (GRCm39) L315F probably damaging Het
Vmn1r43 A G 6: 89,846,746 (GRCm39) S247P probably benign Het
Vmn2r33 T A 7: 7,566,809 (GRCm39) Y101F probably benign Het
Vmn2r40 T C 7: 8,923,197 (GRCm39) D388G Het
Wdr36 C T 18: 32,970,340 (GRCm39) probably benign Het
Zfp2 T A 11: 50,791,843 (GRCm39) I67F possibly damaging 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
R8786:Plcd3 UTSW 11 102,962,569 (GRCm39) missense probably damaging 1.00
R8848:Plcd3 UTSW 11 102,971,446 (GRCm39) missense probably benign 0.00
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'- AGAGCTAGCCTTGACCTGAG -3'
(R):5'- GGGAGTCTTTGTCATCACATCC -3'

Sequencing Primer
(F):5'- CTAGCCTTGACCTGAGGTGGAG -3'
(R):5'- CGCTGTTCTTGAAGAAATGCAG -3'
Posted On 2021-08-02