Incidental Mutation 'R4815:Plcb3'
ID 369751
Institutional Source Beutler Lab
Gene Symbol Plcb3
Ensembl Gene ENSMUSG00000024960
Gene Name phospholipase C, beta 3
Synonyms
MMRRC Submission 042433-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.671) question?
Stock # R4815 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 6931081-6951738 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 6940352 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 439 (I439T)
Ref Sequence ENSEMBL: ENSMUSP00000025912 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025912]
AlphaFold P51432
Predicted Effect possibly damaging
Transcript: ENSMUST00000025912
AA Change: I439T

PolyPhen 2 Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000025912
Gene: ENSMUSG00000024960
AA Change: I439T

DomainStartEndE-ValueType
Pfam:EF-hand_like 225 316 6.6e-23 PFAM
PLCXc 317 468 4.26e-73 SMART
low complexity region 488 515 N/A INTRINSIC
low complexity region 553 578 N/A INTRINSIC
PLCYc 591 707 3.88e-76 SMART
C2 728 826 4.52e-14 SMART
low complexity region 917 936 N/A INTRINSIC
Pfam:PLC-beta_C 1029 1202 5.5e-57 PFAM
Meta Mutation Damage Score 0.1039 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.5%
Validation Efficiency 96% (76/79)
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 phosphoinositide phospholipase C beta enzyme family that catalyze the production of the secondary messengers diacylglycerol and inositol 1,4,5-triphosphate from phosphatidylinositol in G-protein-linked receptor-mediated signal transduction. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for one targeted mutation die at E2.5 and exhibit poor embryonic organization and hypocellularity. Mice homozygous for a second targeted mutation survive to adulthood and exhibit an increased antinocieptive response to opioids. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk2 A T 18: 65,483,026 (GRCm39) N327K probably damaging Het
Ank2 T C 3: 126,730,410 (GRCm39) T675A probably benign Het
Arap3 T C 18: 38,106,296 (GRCm39) T1516A probably benign Het
Asb18 A T 1: 89,942,147 (GRCm39) N51K probably damaging Het
C7 A G 15: 5,088,887 (GRCm39) V18A probably benign Het
Caap1 A G 4: 94,389,497 (GRCm39) V279A probably benign Het
Cacnb2 A G 2: 14,879,591 (GRCm39) D21G probably damaging Het
Ccdc171 T C 4: 83,713,458 (GRCm39) S1166P probably damaging Het
Chgb A T 2: 132,635,219 (GRCm39) H387L probably benign Het
Chp2 G A 7: 121,820,123 (GRCm39) R91Q probably damaging Het
Chuk C A 19: 44,065,686 (GRCm39) G703* probably null Het
Clmn T C 12: 104,751,825 (GRCm39) D210G probably damaging Het
Cyp4f18 A G 8: 72,749,839 (GRCm39) V270A possibly damaging Het
Dgcr2 A G 16: 17,676,483 (GRCm39) probably benign Het
Diaph1 A T 18: 38,028,256 (GRCm39) V411D unknown Het
Dkk2 C T 3: 131,879,546 (GRCm39) A75V probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dnase2a T C 8: 85,636,506 (GRCm39) V187A probably benign Het
Dusp19 A G 2: 80,461,289 (GRCm39) M193V probably benign Het
Ear-ps2 G A 14: 44,284,517 (GRCm39) noncoding transcript Het
Golgb1 A T 16: 36,733,477 (GRCm39) Q908L possibly damaging Het
Hsp90aa1 T C 12: 110,661,660 (GRCm39) M119V possibly damaging Het
Ice2 C T 9: 69,314,400 (GRCm39) R50C probably damaging Het
Ifi208 A T 1: 173,510,403 (GRCm39) E186V probably damaging Het
Ift122 A G 6: 115,858,517 (GRCm39) K166E possibly damaging Het
Jcad T A 18: 4,675,223 (GRCm39) L995Q possibly damaging Het
Kcnc4 A T 3: 107,365,582 (GRCm39) C209S probably benign Het
Kmt2a G A 9: 44,732,553 (GRCm39) probably benign Het
Lrriq1 T A 10: 102,980,739 (GRCm39) L1465F probably benign Het
Map3k7 C A 4: 31,988,592 (GRCm39) T247N probably damaging Het
Mctp2 T G 7: 71,909,097 (GRCm39) Q72P possibly damaging Het
Miga1 T C 3: 151,996,443 (GRCm39) Y335C probably benign Het
Ms4a14 A T 19: 11,291,641 (GRCm39) N19K probably benign Het
Mylk G A 16: 34,715,295 (GRCm39) R541Q probably damaging Het
Nav3 T C 10: 109,659,413 (GRCm39) T735A probably benign Het
Nlgn1 T A 3: 25,490,194 (GRCm39) H511L probably damaging Het
Nlrp4a A T 7: 26,150,233 (GRCm39) E613D probably benign Het
Nuf2 A G 1: 169,338,037 (GRCm39) S247P probably damaging Het
Ocstamp A G 2: 165,240,102 (GRCm39) V28A probably benign Het
Odf2 A C 2: 29,792,252 (GRCm39) E155D possibly damaging Het
Odr4 A G 1: 150,250,597 (GRCm39) C294R probably damaging Het
Or2ag13 G A 7: 106,473,444 (GRCm39) P3S probably benign Het
Or8s16 T C 15: 98,210,561 (GRCm39) N290S probably damaging Het
Otud7a T C 7: 63,379,658 (GRCm39) probably null Het
Pacsin2 A T 15: 83,269,260 (GRCm39) D11E probably damaging Het
Pcdhga5 G A 18: 37,828,247 (GRCm39) V232I probably damaging Het
Rag1 A G 2: 101,473,861 (GRCm39) V427A probably damaging Het
Ranbp10 A T 8: 106,552,757 (GRCm39) C128* probably null Het
Rbm8a2 A G 1: 175,806,024 (GRCm39) V151A probably damaging Het
S100pbp A G 4: 129,044,726 (GRCm39) probably benign Het
Serpinb5 G T 1: 106,800,069 (GRCm39) L86F probably damaging Het
Sgo2b T C 8: 64,384,448 (GRCm39) I183V probably benign Het
Slc25a25 A T 2: 32,310,422 (GRCm39) D112E probably damaging Het
Slc30a5 C T 13: 100,950,218 (GRCm39) V103I probably damaging Het
Slc9a2 A T 1: 40,758,009 (GRCm39) I183F probably benign Het
Srrm4 T A 5: 116,613,249 (GRCm39) K141N unknown Het
Tbc1d20 T C 2: 152,153,909 (GRCm39) probably benign Het
Tdpoz6 C T 3: 93,599,593 (GRCm39) V259M probably benign Het
Tep1 A G 14: 51,078,759 (GRCm39) L1498P probably damaging Het
Tgfbi T C 13: 56,779,933 (GRCm39) M494T probably benign Het
Tox A G 4: 6,823,033 (GRCm39) S95P probably benign Het
Tpr G A 1: 150,274,359 (GRCm39) V163I probably benign Het
Trpm7 A G 2: 126,700,412 (GRCm39) S2P probably damaging Het
Ttn A G 2: 76,546,429 (GRCm39) M32328T probably damaging Het
Vps39 A T 2: 120,169,040 (GRCm39) N289K probably benign Het
Xdh C T 17: 74,213,210 (GRCm39) A847T probably damaging Het
Xndc1 G A 7: 101,722,523 (GRCm39) G63R probably null Het
Ythdc2 A G 18: 45,018,307 (GRCm39) S1330G probably benign Het
Zc3h14 C G 12: 98,719,107 (GRCm39) D157E probably damaging Het
Zc3h7b A T 15: 81,677,864 (GRCm39) K949N probably damaging Het
Zp3r A T 1: 130,526,649 (GRCm39) Y185N probably damaging Het
Other mutations in Plcb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01092:Plcb3 APN 19 6,932,690 (GRCm39) missense probably benign 0.27
IGL01370:Plcb3 APN 19 6,940,192 (GRCm39) missense probably damaging 0.99
IGL01385:Plcb3 APN 19 6,935,276 (GRCm39) missense probably benign
IGL01511:Plcb3 APN 19 6,933,211 (GRCm39) missense probably damaging 0.99
IGL02182:Plcb3 APN 19 6,946,988 (GRCm39) missense probably benign 0.22
IGL02240:Plcb3 APN 19 6,935,448 (GRCm39) splice site probably benign
IGL02350:Plcb3 APN 19 6,935,546 (GRCm39) missense probably damaging 1.00
IGL02357:Plcb3 APN 19 6,935,546 (GRCm39) missense probably damaging 1.00
IGL02550:Plcb3 APN 19 6,937,544 (GRCm39) nonsense probably null
IGL02866:Plcb3 APN 19 6,935,044 (GRCm39) missense probably damaging 1.00
IGL03180:Plcb3 APN 19 6,933,521 (GRCm39) missense probably benign 0.44
IGL03327:Plcb3 APN 19 6,932,420 (GRCm39) missense probably benign
IGL03346:Plcb3 APN 19 6,932,420 (GRCm39) missense probably benign
Multifarious UTSW 19 6,932,071 (GRCm39) critical splice donor site probably null
R0042:Plcb3 UTSW 19 6,943,788 (GRCm39) missense probably damaging 1.00
R0125:Plcb3 UTSW 19 6,936,276 (GRCm39) missense probably damaging 1.00
R0240:Plcb3 UTSW 19 6,940,363 (GRCm39) missense probably benign 0.16
R0240:Plcb3 UTSW 19 6,940,363 (GRCm39) missense probably benign 0.16
R0724:Plcb3 UTSW 19 6,940,760 (GRCm39) missense probably damaging 1.00
R0781:Plcb3 UTSW 19 6,939,281 (GRCm39) nonsense probably null
R0945:Plcb3 UTSW 19 6,932,246 (GRCm39) missense probably damaging 1.00
R1110:Plcb3 UTSW 19 6,939,281 (GRCm39) nonsense probably null
R1414:Plcb3 UTSW 19 6,940,385 (GRCm39) missense probably damaging 1.00
R1454:Plcb3 UTSW 19 6,932,414 (GRCm39) missense possibly damaging 0.64
R1533:Plcb3 UTSW 19 6,935,041 (GRCm39) missense possibly damaging 0.70
R1652:Plcb3 UTSW 19 6,932,664 (GRCm39) missense probably benign 0.00
R1795:Plcb3 UTSW 19 6,933,381 (GRCm39) unclassified probably benign
R1870:Plcb3 UTSW 19 6,940,353 (GRCm39) missense probably benign 0.04
R1934:Plcb3 UTSW 19 6,941,977 (GRCm39) missense probably damaging 1.00
R3980:Plcb3 UTSW 19 6,943,803 (GRCm39) missense probably damaging 1.00
R4397:Plcb3 UTSW 19 6,943,193 (GRCm39) missense probably damaging 0.96
R4533:Plcb3 UTSW 19 6,933,640 (GRCm39) missense probably benign 0.08
R4576:Plcb3 UTSW 19 6,936,415 (GRCm39) splice site probably benign
R4903:Plcb3 UTSW 19 6,933,211 (GRCm39) missense probably damaging 0.99
R5093:Plcb3 UTSW 19 6,943,578 (GRCm39) missense probably damaging 1.00
R5555:Plcb3 UTSW 19 6,943,587 (GRCm39) missense probably benign 0.19
R5593:Plcb3 UTSW 19 6,932,117 (GRCm39) missense possibly damaging 0.94
R5626:Plcb3 UTSW 19 6,932,643 (GRCm39) missense probably benign 0.24
R5661:Plcb3 UTSW 19 6,940,588 (GRCm39) missense probably damaging 1.00
R5713:Plcb3 UTSW 19 6,935,060 (GRCm39) missense probably damaging 0.99
R5741:Plcb3 UTSW 19 6,931,790 (GRCm39) nonsense probably null
R6025:Plcb3 UTSW 19 6,933,547 (GRCm39) missense probably benign 0.03
R6063:Plcb3 UTSW 19 6,940,202 (GRCm39) missense possibly damaging 0.69
R6155:Plcb3 UTSW 19 6,943,533 (GRCm39) missense probably damaging 1.00
R6157:Plcb3 UTSW 19 6,943,533 (GRCm39) missense probably damaging 1.00
R6178:Plcb3 UTSW 19 6,932,071 (GRCm39) critical splice donor site probably null
R7085:Plcb3 UTSW 19 6,937,501 (GRCm39) missense possibly damaging 0.80
R7117:Plcb3 UTSW 19 6,941,746 (GRCm39) missense probably damaging 1.00
R7134:Plcb3 UTSW 19 6,942,698 (GRCm39) missense probably damaging 1.00
R7153:Plcb3 UTSW 19 6,935,452 (GRCm39) critical splice donor site probably null
R7316:Plcb3 UTSW 19 6,943,753 (GRCm39) critical splice donor site probably null
R7366:Plcb3 UTSW 19 6,939,389 (GRCm39) missense probably benign
R7399:Plcb3 UTSW 19 6,940,235 (GRCm39) missense probably benign
R7736:Plcb3 UTSW 19 6,946,991 (GRCm39) missense probably benign 0.00
R8057:Plcb3 UTSW 19 6,936,267 (GRCm39) missense probably damaging 0.99
R8057:Plcb3 UTSW 19 6,932,463 (GRCm39) missense probably benign
R8376:Plcb3 UTSW 19 6,944,071 (GRCm39) missense probably damaging 0.99
R9103:Plcb3 UTSW 19 6,936,288 (GRCm39) missense probably benign 0.06
R9292:Plcb3 UTSW 19 6,942,042 (GRCm39) missense probably damaging 1.00
R9366:Plcb3 UTSW 19 6,937,658 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TATTCTTCACCAGGATACGGCC -3'
(R):5'- ACCATGTCGACTCGTGAGTG -3'

Sequencing Primer
(F):5'- AGGATACGGCCCATCAGGTC -3'
(R):5'- TGCCCTGGGAATCTCTAGAGAG -3'
Posted On 2016-02-04