Incidental Mutation 'R5754:Plcd3'
ID 444960
Institutional Source Beutler Lab
Gene Symbol Plcd3
Ensembl Gene ENSMUSG00000020937
Gene Name phospholipase C, delta 3
Synonyms 2610205J15Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.723) question?
Stock # R5754 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 102961130-102992484 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 102964592 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 593 (Y593F)
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 possibly damaging
Transcript: ENSMUST00000103077
AA Change: Y593F

PolyPhen 2 Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000099366
Gene: ENSMUSG00000020937
AA Change: Y593F

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 noncoding transcript
Transcript: ENSMUST00000124740
Predicted Effect unknown
Transcript: ENSMUST00000128650
AA Change: Y278F
SMART Domains Protein: ENSMUSP00000117455
Gene: ENSMUSG00000020937
AA Change: Y278F

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: ENSMUST00000181125
Meta Mutation Damage Score 0.3505 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.8%
Validation Efficiency 98% (61/62)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T A 5: 8,984,320 (GRCm39) N683K probably benign Het
Atad2b T A 12: 5,060,351 (GRCm39) H915Q probably benign Het
Bltp2 T C 11: 78,160,367 (GRCm39) S609P probably damaging Het
Camk1d G T 2: 5,449,908 (GRCm39) P91Q probably benign Het
Camk1d G C 2: 5,449,910 (GRCm39) S90R probably damaging Het
Card11 T C 5: 140,885,524 (GRCm39) E345G probably damaging Het
Ccpg1 G T 9: 72,920,526 (GRCm39) V714L possibly damaging Het
Chst9 T C 18: 15,586,254 (GRCm39) E103G possibly damaging Het
Cnga1 C T 5: 72,762,615 (GRCm39) V300I probably benign Het
Crb1 T C 1: 139,159,337 (GRCm39) Y1295C probably damaging Het
Dnah5 A G 15: 28,402,014 (GRCm39) T3392A probably benign Het
Elp3 C A 14: 65,785,439 (GRCm39) R473L probably damaging Het
Epgn T A 5: 91,181,807 (GRCm39) I145N probably benign Het
Fam107b G A 2: 3,779,457 (GRCm39) G220D probably damaging Het
Fbn2 A G 18: 58,257,383 (GRCm39) V328A probably benign Het
Fn1 A T 1: 71,639,481 (GRCm39) I1770N probably damaging Het
Fndc1 T A 17: 7,988,585 (GRCm39) Y1159F unknown Het
Frem2 A G 3: 53,444,679 (GRCm39) L2484P probably damaging Het
Grk2 C T 19: 4,340,496 (GRCm39) R295H probably damaging Het
Gtf3c1 A T 7: 125,243,237 (GRCm39) V1789D possibly damaging Het
Hmgcl T C 4: 135,677,898 (GRCm39) V33A probably damaging Het
Ighv7-1 A G 12: 113,860,239 (GRCm39) F51S probably damaging Het
Kcna6 A G 6: 126,716,688 (GRCm39) L67P probably damaging Het
Lamc1 A T 1: 153,123,030 (GRCm39) V720E probably benign Het
Lrch1 T C 14: 75,054,558 (GRCm39) D312G probably damaging Het
Mix23 A G 16: 35,905,427 (GRCm39) N63S probably benign Het
Nav2 A G 7: 49,206,794 (GRCm39) T1540A probably damaging Het
Nisch A T 14: 30,913,373 (GRCm39) probably benign Het
Nos1ap T A 1: 170,176,968 (GRCm39) K145M probably damaging Het
Npc1l1 A G 11: 6,177,839 (GRCm39) Y524H probably damaging Het
Nrap T C 19: 56,377,916 (GRCm39) T25A possibly damaging Het
Nusap1 A G 2: 119,477,580 (GRCm39) K363R probably damaging Het
Or5ar1 T C 2: 85,671,656 (GRCm39) T160A probably damaging Het
Or5b124 A G 19: 13,611,357 (GRCm39) E294G probably damaging Het
Or7e177 T A 9: 20,212,390 (GRCm39) L298Q probably damaging Het
Pde4d T C 13: 110,074,547 (GRCm39) I384T probably damaging Het
Pkhd1 T A 1: 20,593,875 (GRCm39) R1413* probably null Het
Plxna1 A T 6: 89,310,087 (GRCm39) I1026N possibly damaging Het
Podxl T A 6: 31,501,329 (GRCm39) I409F probably damaging Het
Polq A C 16: 36,837,625 (GRCm39) Q179P probably benign Het
Pomt1 T C 2: 32,137,602 (GRCm39) V401A probably damaging Het
Qdpr C T 5: 45,596,727 (GRCm39) G146S probably damaging Het
Shc4 T A 2: 125,512,218 (GRCm39) Q2L probably damaging Het
Skint8 T A 4: 111,807,387 (GRCm39) C358S probably benign Het
Smc5 T C 19: 23,221,467 (GRCm39) E354G possibly damaging Het
Snx30 T C 4: 59,868,275 (GRCm39) V129A probably damaging Het
Sp110 G C 1: 85,504,923 (GRCm39) probably benign Het
Spag6 T A 2: 18,703,613 (GRCm39) probably benign Het
Trim28 T A 7: 12,763,036 (GRCm39) Y450N probably benign Het
Trip11 C T 12: 101,851,924 (GRCm39) W428* probably null Het
Umodl1 T A 17: 31,213,761 (GRCm39) V966E probably damaging Het
Utf1 A G 7: 139,524,704 (GRCm39) probably benign Het
Vmn1r72 T C 7: 11,403,776 (GRCm39) Y224C probably damaging Het
Whrn A G 4: 63,334,825 (GRCm39) S748P probably damaging Het
Zbtb41 T A 1: 139,359,816 (GRCm39) probably null Het
Zfhx3 T C 8: 109,526,964 (GRCm39) F954L probably damaging Het
Zfp456 A T 13: 67,514,359 (GRCm39) I449K 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
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'- CCTTCTAGAAAGCTGTGTGGC -3'
(R):5'- TATCTGGTCCTCAGCAACCC -3'

Sequencing Primer
(F):5'- GCAATCACATGGTGGCTTAC -3'
(R):5'- CTAGTCTCACCATAGTTCAGGAGAG -3'
Posted On 2016-11-21