Incidental Mutation 'R6063:Plcb3'
ID 483955
Institutional Source Beutler Lab
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 # R6063 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 6931081-6951738 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 6940202 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 462 (R462S)
Ref Sequence ENSEMBL: ENSMUSP00000025912 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025912]
AlphaFold P51432
Predicted Effect possibly damaging
Transcript: ENSMUST00000025912
AA Change: R462S

PolyPhen 2 Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000025912
Gene: ENSMUSG00000024960
AA Change: R462S

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: 99.6%
  • 10x: 98.1%
  • 20x: 94.2%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 G A 17: 24,483,318 (GRCm39) R1713C unknown Het
Ano6 C T 15: 95,846,298 (GRCm39) T512I probably damaging Het
Ap3s1 T C 18: 46,887,505 (GRCm39) V46A probably benign Het
Art2a C A 7: 101,204,413 (GRCm39) V42F probably damaging Het
Asph C T 4: 9,531,960 (GRCm39) V386M probably benign Het
B4galnt4 T A 7: 140,644,643 (GRCm39) D179E probably benign Het
Bbx T C 16: 50,071,730 (GRCm39) I232V probably benign Het
C1ql2 A G 1: 120,269,321 (GRCm39) I159V probably benign Het
Ccar1 A G 10: 62,612,496 (GRCm39) V223A possibly damaging Het
Cd2ap A T 17: 43,136,802 (GRCm39) L277I probably benign Het
Cfap44 G A 16: 44,250,255 (GRCm39) E778K probably benign Het
Chd3 A T 11: 69,240,063 (GRCm39) D1626E probably benign Het
Crocc C T 4: 140,769,032 (GRCm39) G505S probably benign Het
Crocc T A 4: 140,773,851 (GRCm39) Q72L probably damaging Het
Drosha T C 15: 12,834,156 (GRCm39) probably benign Het
Eps8l1 T A 7: 4,474,296 (GRCm39) S256T possibly damaging Het
F830045P16Rik A G 2: 129,316,310 (GRCm39) V133A probably damaging Het
Fermt2 A T 14: 45,697,338 (GRCm39) M671K possibly damaging Het
Fhdc1 G A 3: 84,353,336 (GRCm39) L630F probably benign Het
Gon4l T C 3: 88,807,306 (GRCm39) S1667P probably damaging Het
Greb1l A C 18: 10,557,340 (GRCm39) K1780T probably damaging Het
H2-Q10 C T 17: 35,781,026 (GRCm39) T8M probably benign Het
Hmcn2 A T 2: 31,324,725 (GRCm39) T4215S probably benign Het
I0C0044D17Rik G A 4: 98,708,576 (GRCm39) probably benign Het
Ifi204 A G 1: 173,579,223 (GRCm39) F541L probably benign Het
Igkv6-17 C T 6: 70,348,764 (GRCm39) A45V probably damaging Het
Intu G A 3: 40,608,524 (GRCm39) A161T probably damaging Het
Kcnmb2 A G 3: 32,233,141 (GRCm39) Y73C probably damaging Het
Lrit1 T C 14: 36,776,945 (GRCm39) F22L probably benign Het
Lrp1b A T 2: 41,174,156 (GRCm39) C699* probably null Het
Lrrc8d A G 5: 105,959,992 (GRCm39) D134G probably benign Het
Map1b T C 13: 99,567,645 (GRCm39) D1692G unknown Het
Met C T 6: 17,491,967 (GRCm39) S243F probably damaging Het
Mlph C A 1: 90,855,882 (GRCm39) H96Q probably damaging Het
Mycbp2 A T 14: 103,372,582 (GRCm39) V4088D probably damaging Het
Nampt T A 12: 32,898,658 (GRCm39) S425T probably damaging Het
Nts G A 10: 102,320,856 (GRCm39) H78Y probably benign Het
Nxf1 A G 19: 8,745,151 (GRCm39) E467G possibly damaging Het
Olfml2a C A 2: 38,841,155 (GRCm39) D230E probably benign Het
Or4b13 C A 2: 90,082,771 (GRCm39) C187F probably benign Het
Or52n2c C T 7: 104,574,599 (GRCm39) R124H probably benign Het
Pcsk5 A G 19: 17,432,045 (GRCm39) probably null Het
Pde5a C A 3: 122,618,574 (GRCm39) T629K probably benign Het
Pnpla6 T A 8: 3,574,156 (GRCm39) M469K probably benign Het
Pram1 A T 17: 33,860,386 (GRCm39) K318* probably null Het
Prkd1 T C 12: 50,388,826 (GRCm39) R906G probably benign Het
Ptprh T A 7: 4,576,361 (GRCm39) T300S possibly damaging Het
Rdh16f2 A G 10: 127,712,743 (GRCm39) Y247C probably benign Het
Rimbp3 A G 16: 17,028,781 (GRCm39) E735G probably damaging Het
Sall3 G A 18: 81,017,470 (GRCm39) P153S possibly damaging Het
Samd4b T A 7: 28,123,056 (GRCm39) M1L possibly damaging Het
Septin12 T C 16: 4,810,127 (GRCm39) E136G probably damaging Het
Shpk A T 11: 73,104,270 (GRCm39) K140* probably null Het
Sidt1 G T 16: 44,079,829 (GRCm39) F608L probably benign Het
Skint5 A G 4: 113,347,842 (GRCm39) Y1300H probably benign Het
Slc22a28 G A 19: 8,094,386 (GRCm39) P212S probably benign Het
Slc22a5 A T 11: 53,758,359 (GRCm39) F480L possibly damaging Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Slc3a1 C T 17: 85,335,951 (GRCm39) P31L probably benign Het
Slc4a7 T C 14: 14,793,964 (GRCm38) V1074A possibly damaging Het
Snx2 C T 18: 53,342,697 (GRCm39) Q254* probably null Het
Sox30 G A 11: 45,882,769 (GRCm39) V600I probably benign Het
Svil T G 18: 5,106,724 (GRCm39) V1855G probably damaging Het
Tdpoz9 A G 3: 93,957,408 (GRCm39) F7L probably benign Het
Tdrd7 A G 4: 46,005,486 (GRCm39) T431A probably benign Het
Tenm2 A T 11: 36,054,544 (GRCm39) probably null Het
Tigar A G 6: 127,068,164 (GRCm39) S85P probably benign Het
Tnr A C 1: 159,740,254 (GRCm39) M1143L probably benign Het
Trio G T 15: 27,891,465 (GRCm39) Q429K possibly damaging Het
Urb1 T C 16: 90,585,985 (GRCm39) I452M probably benign Het
Uroc1 A T 6: 90,324,910 (GRCm39) E461V probably benign Het
Vax1 C A 19: 59,157,036 (GRCm39) R99L unknown Het
Xab2 A T 8: 3,663,051 (GRCm39) I510N possibly damaging Het
Zbtb34 A T 2: 33,301,842 (GRCm39) I233K possibly damaging Het
Zbtb47 A G 9: 121,592,598 (GRCm39) E306G probably benign Het
Zfp27 A G 7: 29,593,727 (GRCm39) F746S probably damaging Het
Zfp719 C T 7: 43,239,050 (GRCm39) Q213* probably null Het
Zswim6 T C 13: 107,865,112 (GRCm39) noncoding transcript 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
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
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'- CACTGGGGCGAAAAGTTACGTC -3'
(R):5'- CCAAGATGGCTGAGTACTGC -3'

Posted On 2017-07-14