Incidental Mutation 'R6339:Plcd1'
ID 513832
Institutional Source Beutler Lab
Gene Symbol Plcd1
Ensembl Gene ENSMUSG00000010660
Gene Name phospholipase C, delta 1
Synonyms PLC-delta 1
MMRRC Submission 044493-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.331) question?
Stock # R6339 (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 118904059 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 292 (R292C)
Ref Sequence ENSEMBL: ENSMUSP00000149676 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010804] [ENSMUST00000051386] [ENSMUST00000074734] [ENSMUST00000126251] [ENSMUST00000141185] [ENSMUST00000214470] [ENSMUST00000213464]
AlphaFold Q8R3B1
Predicted Effect possibly damaging
Transcript: ENSMUST00000010804
AA Change: R292C

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000010804
Gene: ENSMUSG00000010660
AA Change: R292C

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 noncoding transcript
Transcript: ENSMUST00000153454
Predicted Effect probably damaging
Transcript: ENSMUST00000214470
AA Change: R318C

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000213464
AA Change: R292C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214491
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153630
Meta Mutation Damage Score 0.2510 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.7%
  • 10x: 98.2%
  • 20x: 94.1%
Validation Efficiency 97% (69/71)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933424G06Rik A T 1: 36,749,542 (GRCm39) probably benign Het
Adgrg6 G T 10: 14,310,091 (GRCm39) S743R probably damaging Het
Ak8 A G 2: 28,624,460 (GRCm39) probably null Het
Alpk2 A G 18: 65,482,877 (GRCm39) M377T probably benign Het
Ap1g1 G A 8: 110,571,000 (GRCm39) V425I possibly damaging Het
Apob A T 12: 8,066,188 (GRCm39) R4353W probably damaging Het
Arhgef38 T C 3: 132,839,423 (GRCm39) K540R probably benign Het
B3galt2 A T 1: 143,522,640 (GRCm39) T259S possibly damaging Het
Btbd8 G A 5: 107,651,583 (GRCm39) V159I probably benign Het
C2cd2l T C 9: 44,224,788 (GRCm39) probably benign Het
Carmil3 T C 14: 55,737,306 (GRCm39) V763A possibly damaging Het
Ccdc171 A T 4: 83,661,234 (GRCm39) T1115S probably damaging Het
Chst2 C T 9: 95,287,803 (GRCm39) G181D probably damaging Het
Col7a1 C T 9: 108,785,701 (GRCm39) T390M unknown Het
Cpt1a A C 19: 3,412,152 (GRCm39) D208A probably benign Het
Crocc2 A G 1: 93,141,754 (GRCm39) E1183G probably benign Het
Defa39 G A 8: 22,193,485 (GRCm39) S45F possibly damaging Het
Dlg5 T A 14: 24,208,128 (GRCm39) H1003L probably damaging Het
Dok2 A T 14: 71,013,158 (GRCm39) I109L probably benign Het
Dpy19l4 A T 4: 11,285,111 (GRCm39) I465K probably damaging Het
Dync1h1 A T 12: 110,612,639 (GRCm39) D2838V probably damaging Het
Frem3 A G 8: 81,339,644 (GRCm39) R646G possibly damaging Het
Gcfc2 T A 6: 81,923,477 (GRCm39) F514I probably damaging Het
Gm8104 T C 14: 42,958,942 (GRCm39) M44T probably benign Het
Golph3l T A 3: 95,524,750 (GRCm39) W334R probably damaging Het
Gpr179 A T 11: 97,235,002 (GRCm39) F443I probably damaging Het
Ift172 A G 5: 31,413,927 (GRCm39) V1467A probably benign Het
Ift172 A T 5: 31,444,289 (GRCm39) D44E probably damaging Het
Il1rl1 C T 1: 40,501,016 (GRCm39) A464V possibly damaging Het
Irx5 A G 8: 93,086,481 (GRCm39) E188G probably damaging Het
Jak1 A G 4: 101,019,123 (GRCm39) V710A probably damaging Het
Kcng4 A T 8: 120,359,693 (GRCm39) F228I probably damaging Het
Lifr A G 15: 7,196,530 (GRCm39) N238S probably benign Het
Ltbp3 C A 19: 5,797,505 (GRCm39) H414Q probably damaging Het
Mcpt8 A G 14: 56,319,794 (GRCm39) C219R probably benign Het
Mepce A T 5: 137,783,950 (GRCm39) N125K possibly damaging Het
Mfap3 T C 11: 57,420,598 (GRCm39) F193S probably damaging Het
Miox T A 15: 89,219,702 (GRCm39) Y63* probably null Het
Msl2 A T 9: 100,978,949 (GRCm39) H441L probably benign Het
Nemp2 T A 1: 52,680,069 (GRCm39) S98T possibly damaging Het
Neto2 G T 8: 86,367,187 (GRCm39) A547E probably benign Het
Nol12 T C 15: 78,825,033 (GRCm39) probably benign Het
Npr3 T C 15: 11,845,361 (GRCm39) I504V probably damaging Het
Or4c106 A G 2: 88,683,215 (GRCm39) D307G probably null Het
Pcdhb3 T C 18: 37,433,998 (GRCm39) probably benign Het
Pear1 C A 3: 87,659,827 (GRCm39) G720W probably damaging Het
Pibf1 T G 14: 99,344,834 (GRCm39) D151E probably damaging Het
Pla2g6 T A 15: 79,193,016 (GRCm39) N217I probably damaging Het
Plcl1 C T 1: 55,735,474 (GRCm39) L272F probably damaging Het
Ppp4r4 A T 12: 103,571,228 (GRCm39) K656* probably null Het
Prr22 G A 17: 57,078,490 (GRCm39) M214I probably benign Het
Ror1 G T 4: 100,269,128 (GRCm39) R322L possibly damaging Het
Sh3tc2 G A 18: 62,108,642 (GRCm39) W244* probably null Het
Slamf6 A G 1: 171,775,615 (GRCm39) N320S probably null Het
Slc1a6 A C 10: 78,635,919 (GRCm39) D328A possibly damaging Het
Sorl1 G T 9: 41,881,038 (GRCm39) T2161K probably benign Het
Spata31e2 T A 1: 26,721,586 (GRCm39) D1198V probably benign Het
Sstr2 T C 11: 113,515,375 (GRCm39) F98S probably damaging Het
Stk33 A T 7: 108,920,672 (GRCm39) D348E probably benign Het
Sulf1 T A 1: 12,908,664 (GRCm39) L559Q probably damaging Het
Syne2 A G 12: 76,035,927 (GRCm39) D3738G probably benign Het
Taok3 A T 5: 117,366,095 (GRCm39) Q382L probably benign Het
Tet2 T A 3: 133,192,178 (GRCm39) H752L possibly damaging Het
Tia1 A C 6: 86,403,638 (GRCm39) K285T probably damaging Het
Tle3 G T 9: 61,309,206 (GRCm39) probably null Het
Top1mt T C 15: 75,537,505 (GRCm39) T414A possibly damaging Het
Ubc A T 5: 125,464,406 (GRCm39) I307N probably damaging Het
Vmn2r96 A T 17: 18,804,124 (GRCm39) D266V possibly damaging Het
Wbp2nl G T 15: 82,183,246 (GRCm39) W13C possibly damaging Het
Zfp456 T A 13: 67,510,483 (GRCm39) K102* probably null Het
Zkscan1 T C 5: 138,091,567 (GRCm39) V100A probably damaging 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
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
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'- ACTAGGCTAAGACCCTCCAG -3'
(R):5'- GATCAGGACTTCTGCTCCTC -3'

Sequencing Primer
(F):5'- TCCAGGTTCCATCCCGG -3'
(R):5'- CTCAGAGCTGCAGAGGACTG -3'
Posted On 2018-04-27