Incidental Mutation 'IGL03327:Plcb3'
ID416676
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plcb3
Ensembl Gene ENSMUSG00000024960
Gene Namephospholipase C, beta 3
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.637) question?
Stock #IGL03327
Quality Score
Status
Chromosome19
Chromosomal Location6953714-6969759 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 6955052 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 1080 (F1080L)
Ref Sequence ENSEMBL: ENSMUSP00000025912 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025910] [ENSMUST00000025912] [ENSMUST00000113423] [ENSMUST00000113426]
Predicted Effect probably benign
Transcript: ENSMUST00000025910
SMART Domains Protein: ENSMUSP00000025910
Gene: ENSMUSG00000024959

DomainStartEndE-ValueType
Pfam:Bcl-2_BAD 43 204 5e-93 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000025912
AA Change: F1080L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025912
Gene: ENSMUSG00000024960
AA Change: F1080L

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
Predicted Effect probably benign
Transcript: ENSMUST00000113423
SMART Domains Protein: ENSMUSP00000109050
Gene: ENSMUSG00000024959

DomainStartEndE-ValueType
Pfam:Bcl-2_BAD 1 162 9.1e-92 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113426
SMART Domains Protein: ENSMUSP00000109053
Gene: ENSMUSG00000024959

DomainStartEndE-ValueType
Pfam:Bcl-2_BAD 43 172 5.7e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000141410
SMART Domains Protein: ENSMUSP00000114597
Gene: ENSMUSG00000024959

DomainStartEndE-ValueType
Pfam:Bcl-2_BAD 1 134 2.9e-62 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145463
SMART Domains Protein: ENSMUSP00000121778
Gene: ENSMUSG00000024959

DomainStartEndE-ValueType
Pfam:Bcl-2_BAD 1 51 1.4e-11 PFAM
Coding Region Coverage
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430105I19Rik T C 2: 118,761,670 N79S probably damaging Het
Adcy8 T C 15: 64,920,267 Y280C probably damaging Het
Anapc1 T C 2: 128,623,934 T1647A probably benign Het
Ano3 T C 2: 110,697,178 I562V possibly damaging Het
Ash1l C T 3: 89,023,083 P1956S probably benign Het
Cd160 C T 3: 96,805,533 probably null Het
Chd3 G T 11: 69,350,186 A1527E probably damaging Het
Clcn1 C T 6: 42,311,219 T797I probably benign Het
Cntnap3 G A 13: 64,887,768 Q44* probably null Het
Cntnap4 A G 8: 112,773,576 D500G probably benign Het
Col6a6 T C 9: 105,767,234 D1285G possibly damaging Het
Cr2 A T 1: 195,169,759 V94E probably damaging Het
Dcaf1 T C 9: 106,858,624 S924P possibly damaging Het
Eif5b T C 1: 38,041,691 probably benign Het
Fat1 A C 8: 44,950,468 K85N probably damaging Het
Fnip2 T C 3: 79,518,081 E69G probably damaging Het
Fzr1 T C 10: 81,369,184 T300A probably benign Het
Galc A G 12: 98,207,476 probably benign Het
Gm17079 T C 14: 51,692,963 T142A possibly damaging Het
Hibch G A 1: 52,920,380 probably benign Het
Hmmr A G 11: 40,715,415 C243R probably damaging Het
Il25 T C 14: 54,935,360 probably benign Het
Kif5b G A 18: 6,222,767 R355W probably damaging Het
Kifc3 C T 8: 95,108,432 D242N probably damaging Het
Lig1 T G 7: 13,303,855 I677S probably damaging Het
Lrig1 G T 6: 94,606,123 A1004E probably benign Het
Nras A G 3: 103,059,024 T35A probably damaging Het
Nt5c1b C T 12: 10,374,861 Q136* probably null Het
Olfr1046 C T 2: 86,217,274 W145* probably null Het
Olfr1278 A T 2: 111,292,462 N65Y probably damaging Het
Olfr815 T G 10: 129,902,582 I43L possibly damaging Het
Plpp2 T C 10: 79,530,984 probably null Het
Ptpre G A 7: 135,672,822 probably null Het
Scn3a G A 2: 65,536,672 A2V probably damaging Het
Sh3bp4 C A 1: 89,144,163 Y244* probably null Het
Trip11 A T 12: 101,883,418 N1462K possibly damaging Het
Ttc21b T C 2: 66,237,848 D278G possibly damaging Het
Virma A G 4: 11,518,984 T694A probably benign Het
Wdr35 T C 12: 8,978,694 probably benign Het
Xdh T C 17: 73,916,792 E535G probably benign Het
Other mutations in Plcb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01092:Plcb3 APN 19 6955322 missense probably benign 0.27
IGL01370:Plcb3 APN 19 6962824 missense probably damaging 0.99
IGL01385:Plcb3 APN 19 6957908 missense probably benign
IGL01511:Plcb3 APN 19 6955843 missense probably damaging 0.99
IGL02182:Plcb3 APN 19 6969620 missense probably benign 0.22
IGL02240:Plcb3 APN 19 6958080 splice site probably benign
IGL02350:Plcb3 APN 19 6958178 missense probably damaging 1.00
IGL02357:Plcb3 APN 19 6958178 missense probably damaging 1.00
IGL02550:Plcb3 APN 19 6960176 nonsense probably null
IGL02866:Plcb3 APN 19 6957676 missense probably damaging 1.00
IGL03180:Plcb3 APN 19 6956153 missense probably benign 0.44
IGL03346:Plcb3 APN 19 6955052 missense probably benign
Multifarious UTSW 19 6954703 critical splice donor site probably null
R0042:Plcb3 UTSW 19 6966420 missense probably damaging 1.00
R0125:Plcb3 UTSW 19 6958908 missense probably damaging 1.00
R0240:Plcb3 UTSW 19 6962995 missense probably benign 0.16
R0240:Plcb3 UTSW 19 6962995 missense probably benign 0.16
R0724:Plcb3 UTSW 19 6963392 missense probably damaging 1.00
R0781:Plcb3 UTSW 19 6961913 nonsense probably null
R0945:Plcb3 UTSW 19 6954878 missense probably damaging 1.00
R1110:Plcb3 UTSW 19 6961913 nonsense probably null
R1414:Plcb3 UTSW 19 6963017 missense probably damaging 1.00
R1454:Plcb3 UTSW 19 6955046 missense possibly damaging 0.64
R1533:Plcb3 UTSW 19 6957673 missense possibly damaging 0.70
R1652:Plcb3 UTSW 19 6955296 missense probably benign 0.00
R1795:Plcb3 UTSW 19 6956013 unclassified probably benign
R1870:Plcb3 UTSW 19 6962985 missense probably benign 0.04
R1934:Plcb3 UTSW 19 6964609 missense probably damaging 1.00
R3980:Plcb3 UTSW 19 6966435 missense probably damaging 1.00
R4397:Plcb3 UTSW 19 6965825 missense probably damaging 0.96
R4533:Plcb3 UTSW 19 6956272 missense probably benign 0.08
R4576:Plcb3 UTSW 19 6959047 splice site probably benign
R4815:Plcb3 UTSW 19 6962984 missense possibly damaging 0.59
R4903:Plcb3 UTSW 19 6955843 missense probably damaging 0.99
R5093:Plcb3 UTSW 19 6966210 missense probably damaging 1.00
R5555:Plcb3 UTSW 19 6966219 missense probably benign 0.19
R5593:Plcb3 UTSW 19 6954749 missense possibly damaging 0.94
R5626:Plcb3 UTSW 19 6955275 missense probably benign 0.24
R5661:Plcb3 UTSW 19 6963220 missense probably damaging 1.00
R5713:Plcb3 UTSW 19 6957692 missense probably damaging 0.99
R5741:Plcb3 UTSW 19 6954422 nonsense probably null
R6025:Plcb3 UTSW 19 6956179 missense probably benign 0.03
R6063:Plcb3 UTSW 19 6962834 missense possibly damaging 0.69
R6155:Plcb3 UTSW 19 6966165 missense probably damaging 1.00
R6157:Plcb3 UTSW 19 6966165 missense probably damaging 1.00
R6178:Plcb3 UTSW 19 6954703 critical splice donor site probably null
R7085:Plcb3 UTSW 19 6960133 missense possibly damaging 0.80
R7117:Plcb3 UTSW 19 6964378 missense probably damaging 1.00
R7134:Plcb3 UTSW 19 6965330 missense probably damaging 1.00
R7153:Plcb3 UTSW 19 6958084 critical splice donor site probably null
R7316:Plcb3 UTSW 19 6966385 critical splice donor site probably null
R7366:Plcb3 UTSW 19 6962021 missense probably benign
R7399:Plcb3 UTSW 19 6962867 missense probably benign
R7736:Plcb3 UTSW 19 6969623 missense probably benign 0.00
R8057:Plcb3 UTSW 19 6955095 missense probably benign
R8057:Plcb3 UTSW 19 6958899 missense probably damaging 0.99
R8376:Plcb3 UTSW 19 6966703 missense probably damaging 0.99
Posted On2016-08-02