Incidental Mutation 'R7382:Plcd1'
ID 572810
Institutional Source Beutler Lab
Gene Symbol Plcd1
Ensembl Gene ENSMUSG00000010660
Gene Name phospholipase C, delta 1
Synonyms PLC-delta 1
MMRRC Submission 045464-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.331) question?
Stock # R7382 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 118900595-118922570 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 118903759 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 387 (T387I)
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 damaging
Transcript: ENSMUST00000010804
AA Change: T361I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000010804
Gene: ENSMUSG00000010660
AA Change: T361I

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 probably damaging
Transcript: ENSMUST00000213464
AA Change: T361I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000214470
AA Change: T387I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.9470 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 99% (77/78)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik A T 10: 78,903,103 (GRCm39) H404Q probably damaging Het
Aadacl2fm2 T A 3: 59,651,037 (GRCm39) M53K probably benign Het
Adam8 T A 7: 139,570,020 (GRCm39) T82S possibly damaging Het
Adgrl2 T G 3: 148,522,919 (GRCm39) Q435P Het
Ahr A T 12: 35,554,514 (GRCm39) M535K probably damaging Het
Akap6 A G 12: 53,188,954 (GRCm39) I2123V probably benign Het
Ankrd2 G T 19: 42,033,411 (GRCm39) G318C Het
Ap4e1 T A 2: 126,850,822 (GRCm39) probably null Het
Atp8a2 G A 14: 59,892,043 (GRCm39) P1102S probably benign Het
Cacna2d4 C T 6: 119,216,048 (GRCm39) S105F probably damaging Het
Cad C A 5: 31,233,173 (GRCm39) P1872T probably benign Het
Catsperg1 A G 7: 28,904,269 (GRCm39) F251L probably benign Het
Ccdc18 C A 5: 108,286,873 (GRCm39) Q136K probably damaging Het
Cd163 A G 6: 124,288,271 (GRCm39) probably null Het
Cd209d A T 8: 3,927,965 (GRCm39) Y46* probably null Het
Cdk5rap2 A T 4: 70,208,262 (GRCm39) M728K probably benign Het
Cdon A G 9: 35,389,944 (GRCm39) D866G probably damaging Het
Cenpl A G 1: 160,906,031 (GRCm39) H135R probably benign Het
Cep20 TTGTG TTG 16: 14,118,009 (GRCm39) probably null Het
Clstn2 A T 9: 97,681,451 (GRCm39) L63* probably null Het
Cpeb4 A G 11: 31,822,828 (GRCm39) T181A probably damaging Het
Dlgap1 A G 17: 71,094,169 (GRCm39) E830G probably damaging Het
Endou T A 15: 97,616,807 (GRCm39) K239* probably null Het
Ezh2 T C 6: 47,528,770 (GRCm39) N263S possibly damaging Het
Fbxw2 T C 2: 34,697,314 (GRCm39) D351G probably benign Het
Fer1l4 A T 2: 155,862,669 (GRCm39) Y1720* probably null Het
Fmo9 A T 1: 166,491,229 (GRCm39) probably null Het
Frmpd1 T A 4: 45,278,880 (GRCm39) V535E probably benign Het
Fxr2 T C 11: 69,532,382 (GRCm39) V139A probably benign Het
Gpr180 T G 14: 118,400,035 (GRCm39) V401G possibly damaging Het
Heatr5b G T 17: 79,110,936 (GRCm39) R971S possibly damaging Het
Igkv8-34 C A 6: 70,021,103 (GRCm39) A120S probably benign Het
Inpp5b T A 4: 124,645,370 (GRCm39) H219Q probably benign Het
Itprid1 G T 6: 55,955,404 (GRCm39) G1004V probably benign Het
Kremen2 T C 17: 23,962,526 (GRCm39) probably null Het
Mael G A 1: 166,029,167 (GRCm39) P419S probably benign Het
Map1a A G 2: 121,121,266 (GRCm39) T102A probably damaging Het
Mfsd2a A T 4: 122,845,916 (GRCm39) I119N possibly damaging Het
Muc5b T C 7: 141,412,685 (GRCm39) V1877A unknown Het
Myo5c A C 9: 75,211,332 (GRCm39) S1733R probably damaging Het
Nelfcd T C 2: 174,265,176 (GRCm39) V248A probably benign Het
Npc1 A T 18: 12,334,763 (GRCm39) I663N probably damaging Het
Olig3 T A 10: 19,232,413 (GRCm39) S13T unknown Het
Or1j17 G T 2: 36,578,046 (GRCm39) E11* probably null Het
Or8k39 T C 2: 86,563,129 (GRCm39) I276V probably benign Het
Piezo2 A C 18: 63,150,590 (GRCm39) probably null Het
Pkd1l2 G T 8: 117,781,610 (GRCm39) L812M possibly damaging Het
Ppara C T 15: 85,671,429 (GRCm39) S110L probably damaging Het
Ranbp9 C T 13: 43,578,590 (GRCm39) R161Q probably damaging Het
Rufy2 G T 10: 62,833,748 (GRCm39) R270L probably benign Het
Septin12 C T 16: 4,806,346 (GRCm39) E272K probably damaging Het
Sgms1 T C 19: 32,137,182 (GRCm39) E128G possibly damaging Het
Sh3bgr G A 16: 96,007,093 (GRCm39) S21N probably benign Het
Sil1 A T 18: 35,458,466 (GRCm39) D176E probably benign Het
Slc13a2 A T 11: 78,295,621 (GRCm39) Y82N probably damaging Het
Slc41a1 C T 1: 131,774,370 (GRCm39) P479L probably damaging Het
Smarca4 A G 9: 21,570,229 (GRCm39) K744R probably damaging Het
Stxbp1 T C 2: 32,688,180 (GRCm39) D495G probably damaging Het
Sugp2 T C 8: 70,695,494 (GRCm39) S156P probably benign Het
Syt3 A T 7: 44,042,170 (GRCm39) D343V probably damaging Het
Tbl3 G T 17: 24,924,265 (GRCm39) T164N probably benign Het
Tbpl2 A T 2: 23,977,326 (GRCm39) probably null Het
Tcf7l2 T A 19: 55,915,172 (GRCm39) W461R unknown Het
Tmprss11c A T 5: 86,379,723 (GRCm39) F395Y probably benign Het
Tnc A T 4: 63,932,280 (GRCm39) Y711* probably null Het
Tnpo2 G A 8: 85,776,748 (GRCm39) R485H probably damaging Het
Ttc41 A G 10: 86,612,374 (GRCm39) K1216E probably damaging Het
Ube2q2 A C 9: 55,070,298 (GRCm39) D80A probably damaging Het
Ube2u A T 4: 100,389,379 (GRCm39) K227* probably null Het
Uhrf2 T C 19: 30,048,788 (GRCm39) Y265H possibly damaging Het
Vmn1r208 T G 13: 22,956,756 (GRCm39) Y247S probably damaging Het
Vmn2r27 A G 6: 124,174,276 (GRCm39) C525R probably damaging Het
Vps13a T C 19: 16,596,849 (GRCm39) T3090A probably damaging Het
Whrn T C 4: 63,336,573 (GRCm39) K674R probably benign Het
Zfp202 G T 9: 40,122,801 (GRCm39) R521I probably damaging Het
Zfp433 T C 10: 81,556,659 (GRCm39) V387A probably benign Het
Zpld1 T C 16: 55,067,046 (GRCm39) probably null 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
R6854:Plcd1 UTSW 9 118,903,389 (GRCm39) splice site probably null
R6955:Plcd1 UTSW 9 118,900,924 (GRCm39) missense probably benign 0.01
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'- GGTTCTCCAGGGACAGGATAAC -3'
(R):5'- TGTCTACCAGGACATGAACCAG -3'

Sequencing Primer
(F):5'- TAACTGGGTAGGGGGATGCC -3'
(R):5'- GCCGCTCAGCCACTACTTAG -3'
Posted On 2019-09-13