Incidental Mutation 'R5555:Plcb3'
ID 435358
Institutional Source Beutler Lab
Gene Symbol Plcb3
Ensembl Gene ENSMUSG00000024960
Gene Name phospholipase C, beta 3
Synonyms
MMRRC Submission 043112-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.671) question?
Stock # R5555 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 6931081-6951738 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 6943587 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 104 (M104K)
Ref Sequence ENSEMBL: ENSMUSP00000025912 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025912]
AlphaFold P51432
Predicted Effect probably benign
Transcript: ENSMUST00000025912
AA Change: M104K

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000025912
Gene: ENSMUSG00000024960
AA Change: M104K

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.4%
Validation Efficiency
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg7 T C 6: 114,679,014 (GRCm39) V366A probably damaging Het
Cadm2 A T 16: 66,581,702 (GRCm39) V192E probably damaging Het
Chil6 C T 3: 106,297,268 (GRCm39) S291N possibly damaging Het
D7Ertd443e T C 7: 133,951,320 (GRCm39) T118A probably benign Het
Dennd4b G A 3: 90,175,675 (GRCm39) R148Q probably damaging Het
Dnah1 T A 14: 31,012,776 (GRCm39) T1837S probably damaging Het
Elapor2 T A 5: 9,472,296 (GRCm39) probably null Het
Ext1 A G 15: 52,951,539 (GRCm39) V515A probably damaging Het
Fer1l4 T C 2: 155,890,109 (GRCm39) E272G probably damaging Het
Fras1 T A 5: 96,825,236 (GRCm39) H1475Q probably benign Het
Grid1 T C 14: 35,242,662 (GRCm39) S672P possibly damaging Het
Gtpbp4 A G 13: 9,029,463 (GRCm39) probably null Het
Hsp90aa1 A T 12: 110,659,168 (GRCm39) V543E probably damaging Het
Irf5 T C 6: 29,531,145 (GRCm39) S4P probably benign Het
Kif2b G T 11: 91,466,286 (GRCm39) Q666K probably benign Het
Macc1 A T 12: 119,414,110 (GRCm39) H762L probably benign Het
Map1s C T 8: 71,369,751 (GRCm39) T941M probably damaging Het
Mrgprb1 T A 7: 48,097,523 (GRCm39) I130F probably benign Het
Nbeal1 T G 1: 60,276,311 (GRCm39) V684G possibly damaging Het
Ngly1 C T 14: 16,270,508 (GRCm38) Q173* probably null Het
Plcg2 T A 8: 118,339,734 (GRCm39) Y1048* probably null Het
Ptprf T C 4: 118,082,121 (GRCm39) Y1039C probably damaging Het
Rab38 A G 7: 88,079,695 (GRCm39) Y29C probably damaging Het
Rcan2 T A 17: 44,347,921 (GRCm39) V210E probably damaging Het
Rptn A T 3: 93,304,008 (GRCm39) Q447L probably benign Het
Scel G A 14: 103,839,642 (GRCm39) R495K probably benign Het
Scn11a G T 9: 119,584,304 (GRCm39) P1437Q probably damaging Het
Sim2 A G 16: 93,910,315 (GRCm39) D239G probably damaging Het
Skap2 A G 6: 51,836,998 (GRCm39) Y356H probably damaging Het
Skint11 A G 4: 114,051,798 (GRCm39) T49A probably benign Het
Snx33 G A 9: 56,832,681 (GRCm39) H463Y probably benign Het
Steap2 T C 5: 5,727,544 (GRCm39) T264A possibly damaging Het
Stk40 T A 4: 126,028,852 (GRCm39) V238E probably damaging Het
Sun2 T C 15: 79,618,328 (GRCm39) D277G probably benign Het
Ttll9 T C 2: 152,832,020 (GRCm39) probably null Het
Vmn1r54 G A 6: 90,246,347 (GRCm39) C87Y probably benign 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
R4815:Plcb3 UTSW 19 6,940,352 (GRCm39) missense possibly damaging 0.59
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
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'- CTACATCCAAAACAGGGTCTGG -3'
(R):5'- CCCAAGGTGAGGGTTAAGATCTC -3'

Sequencing Primer
(F):5'- GAGAACATGGCTATGCTTGTAATCCC -3'
(R):5'- GTTAAGATCTCATACTGACAGGGCC -3'
Posted On 2016-10-24