Incidental Mutation 'R5589:Plcd3'
ID 437367
Institutional Source Beutler Lab
Gene Symbol Plcd3
Ensembl Gene ENSMUSG00000020937
Gene Name phospholipase C, delta 3
Synonyms 2610205J15Rik
MMRRC Submission 043142-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.723) question?
Stock # R5589 (G1)
Quality Score 214
Status Not validated
Chromosome 11
Chromosomal Location 102961130-102992484 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102968629 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 354 (D354G)
Ref Sequence ENSEMBL: ENSMUSP00000099366 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103077]
AlphaFold Q8K2J0
Predicted Effect probably benign
Transcript: ENSMUST00000103077
AA Change: D354G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000099366
Gene: ENSMUSG00000020937
AA Change: D354G

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 unknown
Transcript: ENSMUST00000128650
AA Change: D39G
SMART Domains Protein: ENSMUSP00000117455
Gene: ENSMUSG00000020937
AA Change: D39G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142970
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143012
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181125
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.4%
Validation Efficiency
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik T A 11: 23,468,066 (GRCm39) M76L probably benign Het
Adrm1b T A 3: 92,336,112 (GRCm39) probably benign Het
Alg1 T A 16: 5,053,086 (GRCm39) W116R probably benign Het
Ano3 A T 2: 110,715,340 (GRCm39) S33T probably damaging Het
Atp2b2 T C 6: 113,751,400 (GRCm39) E556G possibly damaging Het
Brca2 T A 5: 150,480,597 (GRCm39) I2761K possibly damaging Het
Ccdc68 G A 18: 70,079,577 (GRCm39) G141E probably benign Het
Cckbr T C 7: 105,083,732 (GRCm39) V220A probably damaging Het
Ccnd3 G A 17: 47,909,544 (GRCm39) R45Q probably damaging Het
Cdh24 G T 14: 54,874,832 (GRCm39) T391N probably damaging Het
Cldn11 A G 3: 31,204,395 (GRCm39) T33A probably damaging Het
Clec2e T A 6: 129,075,391 (GRCm39) Y50F probably benign Het
Cntnap1 A G 11: 101,075,944 (GRCm39) N943D probably benign Het
Cspg4b A G 13: 113,454,484 (GRCm39) R177G possibly damaging Het
Dmgdh T C 13: 93,813,665 (GRCm39) V70A probably damaging Het
Gm14496 C A 2: 181,637,674 (GRCm39) Y249* probably null Het
Gmnc T A 16: 26,781,714 (GRCm39) H105L probably damaging Het
Gpt2 A G 8: 86,219,740 (GRCm39) Y62C probably damaging Het
Ift80 T C 3: 68,838,233 (GRCm39) R413G probably damaging Het
Kctd16 C A 18: 40,392,061 (GRCm39) D216E probably damaging Het
Kif26b T C 1: 178,743,864 (GRCm39) V873A probably benign Het
Klra4 G T 6: 130,039,117 (GRCm39) Q92K probably benign Het
L1td1 C A 4: 98,626,341 (GRCm39) N845K possibly damaging Het
Lama3 C T 18: 12,605,277 (GRCm39) T1077I possibly damaging Het
Loxhd1 T C 18: 77,429,751 (GRCm39) I230T possibly damaging Het
Lsg1 T C 16: 30,399,819 (GRCm39) N160S probably damaging Het
Lyzl4 G A 9: 121,413,469 (GRCm39) R24C probably damaging Het
Mib1 A G 18: 10,794,488 (GRCm39) N658S probably benign Het
Mmp8 T C 9: 7,566,275 (GRCm39) I377T probably damaging Het
Mtmr14 T C 6: 113,238,243 (GRCm39) probably null Het
Myo1c A G 11: 75,548,414 (GRCm39) T58A possibly damaging Het
Myo9a C T 9: 59,802,527 (GRCm39) Q2005* probably null Het
Neu3 G T 7: 99,472,636 (GRCm39) P34T probably benign Het
Nlrp4b G A 7: 10,449,512 (GRCm39) V205I probably benign Het
Or4b1b C T 2: 90,112,313 (GRCm39) G202D probably damaging Het
Or4k38 T C 2: 111,165,850 (GRCm39) N191S possibly damaging Het
Or5h23 A T 16: 58,906,334 (GRCm39) S171T probably benign Het
Or5t15 A G 2: 86,681,118 (GRCm39) I308T unknown Het
Or6c66 T G 10: 129,461,319 (GRCm39) T204P probably damaging Het
Or9m1 T C 2: 87,733,691 (GRCm39) T110A probably benign Het
Pcsk6 T C 7: 65,578,933 (GRCm39) probably null Het
Pik3c2a A G 7: 116,016,893 (GRCm39) V288A probably benign Het
Prkdc C A 16: 15,524,655 (GRCm39) N1219K probably benign Het
Prl3d1 T A 13: 27,278,927 (GRCm39) Y41N probably damaging Het
Qrich2 C T 11: 116,332,234 (GRCm39) G2321R probably damaging Het
Rrbp1 T C 2: 143,831,886 (GRCm39) I94V probably benign Het
Serinc1 C A 10: 57,399,262 (GRCm39) V214L probably benign Het
Serpina9 G T 12: 103,967,728 (GRCm39) N222K probably benign Het
Smchd1 A G 17: 71,747,956 (GRCm39) Y429H probably damaging Het
Smyd1 C T 6: 71,239,164 (GRCm39) V9M probably damaging Het
Sostdc1 C T 12: 36,367,246 (GRCm39) Q141* probably null Het
Spam1 C T 6: 24,796,109 (GRCm39) T20I probably benign Het
Tex47 T C 5: 7,354,834 (GRCm39) V5A probably benign Het
Thbs4 T C 13: 92,912,582 (GRCm39) probably null Het
Trim45 C T 3: 100,837,257 (GRCm39) P531L probably damaging Het
Tshb A T 3: 102,685,478 (GRCm39) Y50* probably null Het
Ttn T C 2: 76,599,320 (GRCm39) I19230V probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Uba6 G A 5: 86,270,288 (GRCm39) T832I probably damaging Het
Unc13d A T 11: 115,960,579 (GRCm39) V497D probably damaging Het
Usp13 T C 3: 32,892,007 (GRCm39) V62A probably damaging Het
Vmn1r215 A C 13: 23,260,189 (GRCm39) L76F probably damaging Het
Vmn1r215 G T 13: 23,260,190 (GRCm39) G77C probably damaging Het
Vmn2r5 T C 3: 64,411,497 (GRCm39) D357G probably damaging Het
Zbtb40 T C 4: 136,722,594 (GRCm39) D828G probably damaging Het
Zfp74 A T 7: 29,633,990 (GRCm39) C573S probably 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
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
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'- TGCAATCGACAGACAGACG -3'
(R):5'- TGTTTGAACCTGGACACGAGC -3'

Sequencing Primer
(F):5'- TGCAATCGACAGACAGACGGATAAG -3'
(R):5'- GAACCTGGACACGAGCCTCTC -3'
Posted On 2016-10-26