Incidental Mutation 'R6854:Plcd1'
ID 535156
Institutional Source Beutler Lab
Gene Symbol Plcd1
Ensembl Gene ENSMUSG00000010660
Gene Name phospholipase C, delta 1
Synonyms PLC-delta 1
MMRRC Submission 044957-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.331) question?
Stock # R6854 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 118900595-118922570 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 118903389 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000149813 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010804] [ENSMUST00000051386] [ENSMUST00000074734] [ENSMUST00000126251] [ENSMUST00000141185] [ENSMUST00000213464] [ENSMUST00000214470]
AlphaFold Q8R3B1
Predicted Effect probably null
Transcript: ENSMUST00000010804
SMART Domains Protein: ENSMUSP00000010804
Gene: ENSMUSG00000010660

DomainStartEndE-ValueType
PH 22 132 9.41e-10 SMART
EFh 144 172 2.87e-2 SMART
EFh 180 208 9.34e1 SMART
Pfam:EF-hand_like 213 295 1.2e-23 PFAM
PLCXc 296 440 5.47e-94 SMART
low complexity region 461 472 N/A INTRINSIC
PLCYc 492 609 1.22e-68 SMART
C2 630 735 1.78e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000051386
SMART Domains Protein: ENSMUSP00000061731
Gene: ENSMUSG00000038775

DomainStartEndE-ValueType
GEL 14 114 4.59e-13 SMART
GEL 135 227 4.18e-16 SMART
GEL 252 348 8.35e-25 SMART
GEL 391 488 7.92e-17 SMART
GEL 508 594 4.38e-19 SMART
GEL 613 706 7.8e-16 SMART
VHP 824 859 2.12e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000074734
SMART Domains Protein: ENSMUSP00000074294
Gene: ENSMUSG00000038775

DomainStartEndE-ValueType
GEL 14 114 4.59e-13 SMART
GEL 135 227 4.18e-16 SMART
GEL 252 348 8.35e-25 SMART
GEL 391 488 7.92e-17 SMART
GEL 508 594 4.38e-19 SMART
VHP 740 775 2.12e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000126251
SMART Domains Protein: ENSMUSP00000116262
Gene: ENSMUSG00000038775

DomainStartEndE-ValueType
Blast:GEL 1 56 9e-21 BLAST
GEL 63 149 4.38e-19 SMART
GEL 168 261 7.8e-16 SMART
VHP 357 392 2.12e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000141185
SMART Domains Protein: ENSMUSP00000116546
Gene: ENSMUSG00000038775

DomainStartEndE-ValueType
GEL 7 104 7.92e-17 SMART
GEL 124 210 4.38e-19 SMART
GEL 229 322 7.8e-16 SMART
VHP 440 475 2.12e-17 SMART
Predicted Effect silent
Transcript: ENSMUST00000213464
Predicted Effect probably null
Transcript: ENSMUST00000214470
Meta Mutation Damage Score 0.9756 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (44/44)
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. Phospholipase C isozymes play critical roles in intracellular signal transduction by catalyzing the hydrolysis of phosphatidylinositol 4,5-bisphosphate (PIP2) into the second messengers diacylglycerol (DAG) and inositol triphosphate (IP3). The encoded protein functions as a tumor suppressor in several types of cancer, and mutations in this gene are a cause of hereditary leukonychia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene show reduced body size and various abnormalities of the skin and hair including alopecia, epidermal hyperplasia, enlarged sebaceous glands, various kinds of cysts, and skin tumors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T C 19: 8,992,599 (GRCm39) S4628P probably damaging Het
Aspm G A 1: 139,390,920 (GRCm39) R735H possibly damaging Het
Atp4a T C 7: 30,414,433 (GRCm39) V152A probably benign Het
BC035947 G A 1: 78,475,125 (GRCm39) T469I probably damaging Het
Bicra A T 7: 15,722,687 (GRCm39) S277T probably benign Het
Catsperg1 A T 7: 28,881,127 (GRCm39) N1142K possibly damaging Het
Ccnd3 T C 17: 47,889,645 (GRCm39) probably benign Het
Cdc25a A G 9: 109,708,995 (GRCm39) K79E probably damaging Het
Cfap44 A G 16: 44,269,391 (GRCm39) probably null Het
Chd5 C A 4: 152,467,395 (GRCm39) N1644K probably damaging Het
Flrt3 C T 2: 140,502,638 (GRCm39) R330H probably damaging Het
Gm6034 T A 17: 36,368,110 (GRCm39) probably null Het
Hivep1 A G 13: 42,309,983 (GRCm39) E741G probably damaging Het
Iqgap3 T C 3: 88,004,258 (GRCm39) V448A probably damaging Het
Itsn2 A G 12: 4,702,382 (GRCm39) R679G probably benign Het
Klrb1c A G 6: 128,765,381 (GRCm39) S70P possibly damaging Het
Maml2 C T 9: 13,617,131 (GRCm39) T159I possibly damaging Het
Mroh2a G A 1: 88,171,672 (GRCm39) R770Q probably damaging Het
Mycl G A 4: 122,894,039 (GRCm39) D280N probably damaging Het
Nlrp1b G A 11: 71,119,259 (GRCm39) T12I possibly damaging Het
Or4f14c T C 2: 111,940,992 (GRCm39) N202D probably benign Het
Or5h19 A C 16: 58,856,428 (GRCm39) I224S possibly damaging Het
Palmd A G 3: 116,717,112 (GRCm39) S462P probably benign Het
Phyhd1 A C 2: 30,159,773 (GRCm39) I36L possibly damaging Het
Pml G C 9: 58,127,189 (GRCm39) A806G probably damaging Het
Ppp6r1 C A 7: 4,635,395 (GRCm39) A838S probably benign Het
Prkdc C T 16: 15,469,402 (GRCm39) T169I probably damaging Het
Prr23a1 G T 9: 98,724,988 (GRCm39) V117L possibly damaging Het
Pus7 T C 5: 23,973,845 (GRCm39) silent Het
Rdh7 T C 10: 127,724,250 (GRCm39) E78G probably benign Het
Repin1 G T 6: 48,570,825 (GRCm39) probably benign Het
Rptn A G 3: 93,305,430 (GRCm39) N921S possibly damaging Het
Sema4f A G 6: 82,894,983 (GRCm39) L404P probably damaging Het
Serinc4 T A 2: 121,287,031 (GRCm39) M2L probably benign Het
Siglecf T C 7: 43,001,604 (GRCm39) V138A probably benign Het
Slc66a3 G A 12: 17,049,830 (GRCm39) L43F probably damaging Het
Speer2 T A 16: 69,655,775 (GRCm39) Q106L probably damaging Het
Sptb G A 12: 76,650,254 (GRCm39) P1821L probably damaging Het
St3gal3 C A 4: 117,815,727 (GRCm39) M107I probably benign Het
Tmem25 T C 9: 44,707,305 (GRCm39) K265E possibly damaging Het
Ttll3 CAAAGTAA CAAAGTAAAGTAA 6: 113,376,118 (GRCm39) probably null Het
Vsig10 G A 5: 117,476,472 (GRCm39) V309I probably benign Het
Zfp318 G GAAGAAA 17: 46,723,468 (GRCm39) probably benign Het
Other mutations in Plcd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01621:Plcd1 APN 9 118,905,246 (GRCm39) missense probably damaging 1.00
IGL01634:Plcd1 APN 9 118,902,857 (GRCm39) missense probably damaging 0.99
IGL01992:Plcd1 APN 9 118,905,053 (GRCm39) missense probably benign
IGL02246:Plcd1 APN 9 118,901,677 (GRCm39) missense probably benign 0.16
IGL02266:Plcd1 APN 9 118,903,855 (GRCm39) splice site probably benign
IGL02270:Plcd1 APN 9 118,913,709 (GRCm39) missense probably damaging 1.00
IGL02281:Plcd1 APN 9 118,903,841 (GRCm39) missense probably benign 0.00
IGL02324:Plcd1 APN 9 118,901,710 (GRCm39) missense probably damaging 0.97
IGL02936:Plcd1 APN 9 118,903,267 (GRCm39) missense probably damaging 1.00
IGL03348:Plcd1 APN 9 118,901,558 (GRCm39) missense possibly damaging 0.91
R0366:Plcd1 UTSW 9 118,910,204 (GRCm39) missense probably damaging 0.99
R1765:Plcd1 UTSW 9 118,900,874 (GRCm39) missense probably damaging 1.00
R3704:Plcd1 UTSW 9 118,905,277 (GRCm39) missense possibly damaging 0.85
R5143:Plcd1 UTSW 9 118,903,519 (GRCm39) nonsense probably null
R5587:Plcd1 UTSW 9 118,902,900 (GRCm39) missense probably benign
R5877:Plcd1 UTSW 9 118,905,240 (GRCm39) missense probably damaging 1.00
R6043:Plcd1 UTSW 9 118,901,667 (GRCm39) missense probably damaging 1.00
R6103:Plcd1 UTSW 9 118,901,109 (GRCm39) missense probably benign 0.16
R6338:Plcd1 UTSW 9 118,904,059 (GRCm39) missense probably damaging 1.00
R6339:Plcd1 UTSW 9 118,904,059 (GRCm39) missense probably damaging 1.00
R6496:Plcd1 UTSW 9 118,901,709 (GRCm39) missense possibly damaging 0.79
R6516:Plcd1 UTSW 9 118,905,271 (GRCm39) missense probably damaging 0.99
R6646:Plcd1 UTSW 9 118,904,100 (GRCm39) missense probably damaging 0.99
R6955:Plcd1 UTSW 9 118,900,924 (GRCm39) missense probably benign 0.01
R7382:Plcd1 UTSW 9 118,903,759 (GRCm39) missense probably damaging 1.00
R7577:Plcd1 UTSW 9 118,901,322 (GRCm39) missense possibly damaging 0.94
R7922:Plcd1 UTSW 9 118,903,720 (GRCm39) missense possibly damaging 0.64
R8089:Plcd1 UTSW 9 118,905,060 (GRCm39) missense possibly damaging 0.95
R9027:Plcd1 UTSW 9 118,913,709 (GRCm39) missense probably damaging 1.00
R9217:Plcd1 UTSW 9 118,901,723 (GRCm39) critical splice acceptor site probably null
R9434:Plcd1 UTSW 9 118,905,231 (GRCm39) missense probably damaging 0.99
R9596:Plcd1 UTSW 9 118,917,183 (GRCm39) missense probably benign 0.10
R9667:Plcd1 UTSW 9 118,901,698 (GRCm39) missense probably damaging 1.00
R9739:Plcd1 UTSW 9 118,901,195 (GRCm39) missense possibly damaging 0.69
Predicted Primers PCR Primer
(F):5'- AGCTTCCCCTAGAACCTTGG -3'
(R):5'- TCATCTTGGGGCTTCTAGGC -3'

Sequencing Primer
(F):5'- CCCTAGAACCTTGGGCTTGTG -3'
(R):5'- AGTTATCCTGTCCCTGGAGAAC -3'
Posted On 2018-09-12