Incidental Mutation 'R8061:Plcb1'
ID 619688
Institutional Source Beutler Lab
Gene Symbol Plcb1
Ensembl Gene ENSMUSG00000051177
Gene Name phospholipase C, beta 1
Synonyms 3110043I21Rik
MMRRC Submission 067497-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.204) question?
Stock # R8061 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 134628084-135317178 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 135188316 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 803 (Y803F)
Ref Sequence ENSEMBL: ENSMUSP00000105743 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070724] [ENSMUST00000110116] [ENSMUST00000131552]
AlphaFold Q9Z1B3
Predicted Effect probably benign
Transcript: ENSMUST00000070724
AA Change: Y803F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000064844
Gene: ENSMUSG00000051177
AA Change: Y803F

DomainStartEndE-ValueType
Pfam:EF-hand_like 224 315 2.2e-26 PFAM
PLCXc 316 467 2.85e-74 SMART
low complexity region 491 501 N/A INTRINSIC
PLCYc 540 656 2e-69 SMART
C2 677 776 1.55e-12 SMART
low complexity region 871 885 N/A INTRINSIC
Pfam:DUF1154 903 946 1.3e-7 PFAM
low complexity region 967 984 N/A INTRINSIC
Pfam:PLC-beta_C 997 1155 1.9e-64 PFAM
low complexity region 1157 1168 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110116
AA Change: Y803F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105743
Gene: ENSMUSG00000051177
AA Change: Y803F

DomainStartEndE-ValueType
Pfam:EF-hand_like 224 315 4.1e-26 PFAM
PLCXc 316 467 2.85e-74 SMART
low complexity region 491 501 N/A INTRINSIC
PLCYc 540 656 2e-69 SMART
C2 677 776 1.55e-12 SMART
low complexity region 871 885 N/A INTRINSIC
Pfam:DUF1154 903 946 1.1e-9 PFAM
low complexity region 967 984 N/A INTRINSIC
Pfam:PLC-beta_C 1003 1176 2.9e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131552
AA Change: Y803F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000118756
Gene: ENSMUSG00000051177
AA Change: Y803F

DomainStartEndE-ValueType
Pfam:EF-hand_like 224 315 3.9e-26 PFAM
PLCXc 316 467 2.85e-74 SMART
low complexity region 491 501 N/A INTRINSIC
PLCYc 540 656 2e-69 SMART
C2 677 776 1.55e-12 SMART
low complexity region 871 885 N/A INTRINSIC
Pfam:DUF1154 903 946 1e-9 PFAM
low complexity region 967 984 N/A INTRINSIC
Pfam:PLC-beta_C 1003 1148 8e-51 PFAM
low complexity region 1157 1168 N/A INTRINSIC
Meta Mutation Damage Score 0.0591 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (70/70)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of many extracellular signals. This gene is activated by two G-protein alpha subunits, alpha-q and alpha-11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit spontaneous seizures and high mortality around 3 weeks of age. Mutant males show exhibit sperm with a reduced acrosome reaction rate and fertilizing capacity in vitro and decreased fertility in vivo. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acads G A 5: 115,255,710 (GRCm39) R42C probably benign Het
Agrn G A 4: 156,263,411 (GRCm39) R338C probably damaging Het
Anapc1 T C 2: 128,490,408 (GRCm39) E1008G probably damaging Het
Art5 A T 7: 101,747,456 (GRCm39) Y108N possibly damaging Het
As3mt G A 19: 46,728,982 (GRCm39) C369Y probably damaging Het
Asb3 A G 11: 30,948,447 (GRCm39) N41S probably damaging Het
Astn1 G A 1: 158,331,920 (GRCm39) probably null Het
Asxl3 T A 18: 22,657,300 (GRCm39) M1770K possibly damaging Het
Atp8b2 T C 3: 89,853,527 (GRCm39) probably benign Het
Cfap300 A G 9: 8,042,672 (GRCm39) W37R probably damaging Het
Chrm1 T C 19: 8,656,518 (GRCm39) Y408H possibly damaging Het
Chst2 T C 9: 95,287,224 (GRCm39) H374R probably damaging Het
Cnot1 A G 8: 96,491,655 (GRCm39) F390L possibly damaging Het
Comt T C 16: 18,230,040 (GRCm39) Y100C probably benign Het
Cyria G T 12: 12,412,028 (GRCm39) A150S possibly damaging Het
Dclk2 T C 3: 86,720,981 (GRCm39) probably benign Het
Dicer1 G A 12: 104,669,077 (GRCm39) Q1202* probably null Het
Disp1 C T 1: 182,869,151 (GRCm39) V1090M probably damaging Het
Dnajc28 T C 16: 91,414,058 (GRCm39) D62G possibly damaging Het
Dock1 C T 7: 134,374,052 (GRCm39) T566I probably benign Het
Dop1a T G 9: 86,403,246 (GRCm39) M18R possibly damaging Het
Dop1b T C 16: 93,546,884 (GRCm39) L296P probably damaging Het
Dsc2 C T 18: 20,165,331 (GRCm39) G881R possibly damaging Het
Efcab3 A T 11: 104,997,275 (GRCm39) D155V probably benign Het
Ehmt2 T C 17: 35,124,903 (GRCm39) S465P possibly damaging Het
Eno1b G A 18: 48,180,725 (GRCm39) W301* probably null Het
Fpgt A G 3: 154,792,903 (GRCm39) S375P probably benign Het
Gas2l1 G A 11: 5,011,785 (GRCm39) S348F possibly damaging Het
Gen1 A T 12: 11,311,077 (GRCm39) probably benign Het
Ice1 A T 13: 70,751,851 (GRCm39) C1412S probably damaging Het
Iqcn A G 8: 71,161,224 (GRCm39) E139G probably benign Het
Klhl2 A C 8: 65,211,257 (GRCm39) L264V probably damaging Het
Lars2 A G 9: 123,288,562 (GRCm39) T803A probably benign Het
Ldb2 T A 5: 44,637,612 (GRCm39) K232M probably damaging Het
Lix1 G A 17: 17,663,938 (GRCm39) R92Q probably damaging Het
Meig1 C T 2: 3,410,240 (GRCm39) V87I not run Het
Mitf A C 6: 97,970,259 (GRCm39) S176R probably damaging Het
Myh7 A G 14: 55,228,398 (GRCm39) V236A probably benign Het
Myo5a T A 9: 75,030,239 (GRCm39) Y119* probably null Het
Ncapg2 A G 12: 116,390,197 (GRCm39) N382S probably benign Het
Neu2 C T 1: 87,524,633 (GRCm39) P206L probably damaging Het
Or2h2b-ps1 A G 17: 37,480,792 (GRCm39) F147S probably damaging Het
Osbpl5 C T 7: 143,256,461 (GRCm39) R454Q probably benign Het
Panx1 A G 9: 14,956,297 (GRCm39) S13P possibly damaging Het
Pde2a A G 7: 101,153,179 (GRCm39) D413G probably benign Het
Prrc2a T C 17: 35,380,162 (GRCm39) probably benign Het
Pth2r T A 1: 65,382,660 (GRCm39) Y143N possibly damaging Het
Ptpn4 C T 1: 119,619,330 (GRCm39) probably null Het
Rapgef3 T C 15: 97,659,401 (GRCm39) Y112C probably benign Het
Rusc2 A G 4: 43,422,492 (GRCm39) N907S probably damaging Het
Scn7a T A 2: 66,522,938 (GRCm39) N922I probably damaging Het
Shprh T C 10: 11,088,077 (GRCm39) V1620A possibly damaging Het
Slc25a54 T A 3: 109,018,361 (GRCm39) S280R probably damaging Het
Slc30a5 T C 13: 100,965,419 (GRCm39) I63M probably damaging Het
Smg1 A T 7: 117,751,610 (GRCm39) V2817E unknown Het
Sprr3 T C 3: 92,364,184 (GRCm39) E220G probably damaging Het
Tcf21 T C 10: 22,695,762 (GRCm39) E14G probably benign Het
Tenm4 A G 7: 96,501,663 (GRCm39) D1289G probably damaging Het
Tmem121b C A 6: 120,469,064 (GRCm39) G551V probably damaging Het
Tpk1 A G 6: 43,323,778 (GRCm39) S224P probably damaging Het
Trib1 T C 15: 59,523,404 (GRCm39) I146T probably damaging Het
Ttc32 T A 12: 9,084,953 (GRCm39) Y58N probably damaging Het
Vcan T A 13: 89,805,409 (GRCm39) I3336L probably benign Het
Vmn1r200 C A 13: 22,579,453 (GRCm39) Y85* probably null Het
Vps39 T C 2: 120,174,692 (GRCm39) I97V probably benign Het
Zan T A 5: 137,434,893 (GRCm39) I2167F unknown Het
Zfp37 A T 4: 62,109,665 (GRCm39) Y507* probably null Het
Zfp39 A G 11: 58,793,573 (GRCm39) V55A probably benign Het
Zfp616 A T 11: 73,974,340 (GRCm39) N294I possibly damaging Het
Zfp729a T C 13: 67,768,208 (GRCm39) T674A probably benign Het
Other mutations in Plcb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00510:Plcb1 APN 2 135,093,676 (GRCm39) missense possibly damaging 0.66
IGL01152:Plcb1 APN 2 134,655,579 (GRCm39) missense probably damaging 1.00
IGL01945:Plcb1 APN 2 135,062,711 (GRCm39) missense probably benign 0.03
IGL01999:Plcb1 APN 2 135,188,238 (GRCm39) missense probably damaging 1.00
IGL02109:Plcb1 APN 2 134,628,479 (GRCm39) missense probably damaging 1.00
IGL02153:Plcb1 APN 2 135,229,773 (GRCm39) missense probably benign 0.08
IGL02207:Plcb1 APN 2 135,229,091 (GRCm39) missense probably damaging 1.00
IGL02566:Plcb1 APN 2 135,314,183 (GRCm39) missense probably benign 0.17
IGL02590:Plcb1 APN 2 135,136,784 (GRCm39) missense probably benign 0.08
IGL02640:Plcb1 APN 2 135,062,779 (GRCm39) splice site probably benign
IGL02926:Plcb1 APN 2 135,206,682 (GRCm39) splice site probably benign
IGL03071:Plcb1 APN 2 135,229,722 (GRCm39) missense probably damaging 1.00
IGL03236:Plcb1 APN 2 135,188,226 (GRCm39) missense probably damaging 1.00
IGL03252:Plcb1 APN 2 135,212,348 (GRCm39) missense probably benign
IGL03387:Plcb1 APN 2 134,655,606 (GRCm39) splice site probably benign
BB001:Plcb1 UTSW 2 135,201,613 (GRCm39) missense probably benign 0.00
BB011:Plcb1 UTSW 2 135,201,613 (GRCm39) missense probably benign 0.00
R0024:Plcb1 UTSW 2 135,204,345 (GRCm39) missense probably benign 0.06
R0024:Plcb1 UTSW 2 135,204,345 (GRCm39) missense probably benign 0.06
R0053:Plcb1 UTSW 2 135,136,835 (GRCm39) missense probably benign 0.33
R0053:Plcb1 UTSW 2 135,136,835 (GRCm39) missense probably benign 0.33
R0308:Plcb1 UTSW 2 134,655,534 (GRCm39) missense probably benign 0.01
R0415:Plcb1 UTSW 2 135,179,419 (GRCm39) missense probably damaging 1.00
R0624:Plcb1 UTSW 2 135,136,831 (GRCm39) missense possibly damaging 0.81
R0898:Plcb1 UTSW 2 135,229,063 (GRCm39) missense possibly damaging 0.73
R1071:Plcb1 UTSW 2 135,167,577 (GRCm39) missense possibly damaging 0.64
R1615:Plcb1 UTSW 2 135,204,364 (GRCm39) splice site probably benign
R1617:Plcb1 UTSW 2 135,179,361 (GRCm39) missense probably damaging 1.00
R1785:Plcb1 UTSW 2 135,167,587 (GRCm39) nonsense probably null
R1866:Plcb1 UTSW 2 135,186,093 (GRCm39) missense probably benign 0.01
R1869:Plcb1 UTSW 2 135,152,934 (GRCm39) missense probably benign 0.02
R1902:Plcb1 UTSW 2 134,655,533 (GRCm39) missense possibly damaging 0.93
R1938:Plcb1 UTSW 2 135,228,222 (GRCm39) missense probably damaging 1.00
R2016:Plcb1 UTSW 2 135,204,340 (GRCm39) missense possibly damaging 0.94
R2017:Plcb1 UTSW 2 135,204,340 (GRCm39) missense possibly damaging 0.94
R2131:Plcb1 UTSW 2 135,167,587 (GRCm39) nonsense probably null
R2132:Plcb1 UTSW 2 135,167,587 (GRCm39) nonsense probably null
R2133:Plcb1 UTSW 2 135,167,587 (GRCm39) nonsense probably null
R2164:Plcb1 UTSW 2 135,188,250 (GRCm39) missense possibly damaging 0.87
R2419:Plcb1 UTSW 2 135,104,020 (GRCm39) splice site probably benign
R2429:Plcb1 UTSW 2 135,179,362 (GRCm39) missense probably damaging 0.99
R2508:Plcb1 UTSW 2 135,102,428 (GRCm39) missense probably benign 0.27
R3161:Plcb1 UTSW 2 135,177,402 (GRCm39) missense probably benign 0.03
R3870:Plcb1 UTSW 2 135,167,591 (GRCm39) missense probably damaging 0.99
R4191:Plcb1 UTSW 2 135,187,010 (GRCm39) missense probably damaging 1.00
R4239:Plcb1 UTSW 2 135,186,078 (GRCm39) missense probably damaging 0.99
R4552:Plcb1 UTSW 2 135,177,413 (GRCm39) missense probably benign 0.44
R4553:Plcb1 UTSW 2 135,177,413 (GRCm39) missense probably benign 0.44
R4720:Plcb1 UTSW 2 135,093,667 (GRCm39) missense possibly damaging 0.70
R4946:Plcb1 UTSW 2 135,187,015 (GRCm39) missense probably benign 0.01
R5012:Plcb1 UTSW 2 135,175,320 (GRCm39) missense probably null 0.97
R5151:Plcb1 UTSW 2 135,104,165 (GRCm39) missense probably benign 0.28
R5320:Plcb1 UTSW 2 135,094,696 (GRCm39) missense possibly damaging 0.56
R5415:Plcb1 UTSW 2 135,189,322 (GRCm39) missense possibly damaging 0.67
R5523:Plcb1 UTSW 2 135,102,486 (GRCm39) missense probably benign 0.08
R5568:Plcb1 UTSW 2 135,212,513 (GRCm39) missense probably damaging 1.00
R5688:Plcb1 UTSW 2 135,177,400 (GRCm39) missense probably benign 0.06
R5809:Plcb1 UTSW 2 135,104,164 (GRCm39) missense possibly damaging 0.83
R6237:Plcb1 UTSW 2 135,212,486 (GRCm39) missense possibly damaging 0.94
R6315:Plcb1 UTSW 2 135,188,261 (GRCm39) missense probably benign 0.00
R6478:Plcb1 UTSW 2 135,177,371 (GRCm39) missense probably damaging 1.00
R6531:Plcb1 UTSW 2 135,167,722 (GRCm39) critical splice donor site probably null
R6683:Plcb1 UTSW 2 134,628,513 (GRCm39) missense probably benign 0.32
R6760:Plcb1 UTSW 2 135,313,980 (GRCm39) missense possibly damaging 0.50
R6947:Plcb1 UTSW 2 135,228,075 (GRCm39) missense probably benign 0.08
R6976:Plcb1 UTSW 2 135,104,159 (GRCm39) missense possibly damaging 0.75
R7379:Plcb1 UTSW 2 135,212,430 (GRCm39) missense probably benign 0.45
R7473:Plcb1 UTSW 2 135,186,196 (GRCm39) missense probably damaging 0.98
R7492:Plcb1 UTSW 2 135,093,684 (GRCm39) nonsense probably null
R7498:Plcb1 UTSW 2 135,104,154 (GRCm39) missense probably damaging 0.99
R7498:Plcb1 UTSW 2 135,104,153 (GRCm39) nonsense probably null
R7777:Plcb1 UTSW 2 135,062,677 (GRCm39) missense possibly damaging 0.51
R7924:Plcb1 UTSW 2 135,201,613 (GRCm39) missense probably benign 0.00
R8099:Plcb1 UTSW 2 135,093,654 (GRCm39) missense possibly damaging 0.68
R8299:Plcb1 UTSW 2 135,177,396 (GRCm39) missense probably damaging 1.00
R8394:Plcb1 UTSW 2 135,159,710 (GRCm39) missense probably damaging 1.00
R8439:Plcb1 UTSW 2 135,091,972 (GRCm39) critical splice donor site probably null
R8549:Plcb1 UTSW 2 135,206,853 (GRCm39) missense probably benign 0.00
R8693:Plcb1 UTSW 2 135,094,696 (GRCm39) missense probably benign 0.00
R8750:Plcb1 UTSW 2 135,177,369 (GRCm39) missense probably damaging 1.00
R8817:Plcb1 UTSW 2 135,175,429 (GRCm39) intron probably benign
R8950:Plcb1 UTSW 2 135,179,439 (GRCm39) missense probably damaging 1.00
R9146:Plcb1 UTSW 2 135,182,615 (GRCm39) missense probably damaging 1.00
R9301:Plcb1 UTSW 2 135,167,610 (GRCm39) missense possibly damaging 0.96
R9311:Plcb1 UTSW 2 135,189,385 (GRCm39) missense probably benign 0.00
R9459:Plcb1 UTSW 2 135,164,558 (GRCm39) missense probably benign 0.03
S24628:Plcb1 UTSW 2 135,179,419 (GRCm39) missense probably damaging 1.00
X0025:Plcb1 UTSW 2 135,186,974 (GRCm39) missense possibly damaging 0.87
Z1088:Plcb1 UTSW 2 135,062,766 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- AGCAGAGCCATCAGTGTTTG -3'
(R):5'- CTGGTTAGGATTCCAATGGACAC -3'

Sequencing Primer
(F):5'- CTGTTTGTAGAGCACCACAGG -3'
(R):5'- TTCCAATGGACACAGAAAGGTTC -3'
Posted On 2020-01-23