Incidental Mutation 'IGL02182:Plcb3'
ID 283287
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plcb3
Ensembl Gene ENSMUSG00000024960
Gene Name phospholipase C, beta 3
Synonyms
Accession Numbers
Essential gene? Possibly essential (E-score: 0.671) question?
Stock # IGL02182
Quality Score
Status
Chromosome 19
Chromosomal Location 6931081-6951738 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 6946988 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 9 (H9R)
Ref Sequence ENSEMBL: ENSMUSP00000025912 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025912]
AlphaFold P51432
Predicted Effect probably benign
Transcript: ENSMUST00000025912
AA Change: H9R

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000025912
Gene: ENSMUSG00000024960
AA Change: H9R

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
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 T A 8: 44,104,790 (GRCm39) N285I probably benign Het
Adprh T C 16: 38,267,838 (GRCm39) H149R probably benign Het
Ahctf1 A G 1: 179,580,643 (GRCm39) V1853A probably benign Het
Ank1 T C 8: 23,603,868 (GRCm39) V905A possibly damaging Het
Atp10b T G 11: 43,139,774 (GRCm39) L1234R probably damaging Het
Bco1 G A 8: 117,859,805 (GRCm39) A503T probably damaging Het
Clxn T A 16: 14,738,659 (GRCm39) D163E probably damaging Het
Cpz T A 5: 35,675,066 (GRCm39) Y61F probably damaging Het
Dnah8 T A 17: 31,013,737 (GRCm39) M3826K possibly damaging Het
Dtd2 A G 12: 52,046,492 (GRCm39) S116P probably benign Het
Eml5 T C 12: 98,768,581 (GRCm39) D1498G probably damaging Het
Fat4 T C 3: 38,944,695 (GRCm39) V1196A probably damaging Het
Gm15557 T C 2: 155,783,737 (GRCm39) D405G probably damaging Het
Lpp C T 16: 24,580,895 (GRCm39) R204W probably damaging Het
Mfsd11 T A 11: 116,764,740 (GRCm39) V388E possibly damaging Het
Ms4a20 A T 19: 11,074,436 (GRCm39) probably benign Het
Or10a3m A G 7: 108,313,075 (GRCm39) T160A probably benign Het
Or52b4 A G 7: 102,184,775 (GRCm39) I274V probably benign Het
Pik3cg A T 12: 32,255,272 (GRCm39) D238E possibly damaging Het
Ppp3cc A C 14: 70,462,473 (GRCm39) V388G probably benign Het
Ranbp2 T A 10: 58,321,582 (GRCm39) C2626* probably null Het
Resp18 T C 1: 75,250,615 (GRCm39) T155A probably benign Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Scarb2 C T 5: 92,601,913 (GRCm39) S327N probably damaging Het
Secisbp2l T A 2: 125,589,497 (GRCm39) I684F probably damaging Het
Slc39a6 T C 18: 24,734,347 (GRCm39) D114G probably damaging Het
Smap1 T A 1: 23,898,180 (GRCm39) E85D probably damaging Het
Tas2r121 T A 6: 132,677,133 (GRCm39) I280F probably damaging Het
Uhrf2 T C 19: 30,016,609 (GRCm39) V86A probably benign Het
Vip A T 10: 5,593,561 (GRCm39) Y91F probably benign Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Zfp618 G A 4: 63,013,798 (GRCm39) 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
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
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
Posted On 2015-04-16