Incidental Mutation 'R0024:Plcb1'
ID 177901
Institutional Source Beutler Lab
Gene Symbol Plcb1
Ensembl Gene ENSMUSG00000051177
Gene Name phospholipase C, beta 1
Synonyms 3110043I21Rik
MMRRC Submission 038319-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.166) question?
Stock # R0024 (G1)
Quality Score 58
Status Validated
Chromosome 2
Chromosomal Location 134786067-135475258 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 135362425 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 900 (S900G)
Ref Sequence ENSEMBL: ENSMUSP00000118756 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070724] [ENSMUST00000110116] [ENSMUST00000131552]
AlphaFold Q9Z1B3
Predicted Effect probably benign
Transcript: ENSMUST00000070724
AA Change: S900G

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000064844
Gene: ENSMUSG00000051177
AA Change: S900G

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: S900G

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000105743
Gene: ENSMUSG00000051177
AA Change: S900G

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: S900G

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000118756
Gene: ENSMUSG00000051177
AA Change: S900G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153402
Meta Mutation Damage Score 0.0889 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 98% (47/48)
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A T 7: 120,433,385 (GRCm38) D209V probably damaging Het
Abtb3 A G 10: 85,387,447 (GRCm38) D40G unknown Het
Bbx T A 16: 50,224,918 (GRCm38) M427L probably benign Het
Camk2d A G 3: 126,797,723 (GRCm38) M281V probably benign Het
Chdh G A 14: 30,031,596 (GRCm38) R154H possibly damaging Het
Emid1 A T 11: 5,143,869 (GRCm38) W93R probably damaging Het
Grid2ip T A 5: 143,391,041 (GRCm38) S947T probably damaging Het
Gstt4 T A 10: 75,817,204 (GRCm38) M175L possibly damaging Het
Hectd4 C T 5: 121,308,576 (GRCm38) T242I possibly damaging Het
Hfm1 T C 5: 106,856,924 (GRCm38) K1179E probably benign Het
Kif13b A G 14: 64,750,273 (GRCm38) I750V probably benign Het
Krt34 A T 11: 100,041,037 (GRCm38) C119S probably benign Het
Krt6a A G 15: 101,690,715 (GRCm38) probably benign Het
Myof G T 19: 37,915,740 (GRCm38) T4N probably damaging Het
Or2r3 A G 6: 42,471,260 (GRCm38) M306T probably benign Het
P3h3 T C 6: 124,857,458 (GRCm38) Q77R probably benign Het
Picalm T C 7: 90,130,704 (GRCm38) probably null Het
Prkd2 T C 7: 16,847,643 (GRCm38) L141P probably damaging Het
Prpf31 C A 7: 3,636,659 (GRCm38) probably null Het
Rgs5 T A 1: 169,676,892 (GRCm38) V37D probably damaging Het
Slc24a2 T C 4: 87,028,240 (GRCm38) probably benign Het
Ssh2 A T 11: 77,454,966 (GRCm38) Q1259L possibly damaging Het
Sugct G A 13: 16,857,869 (GRCm38) H433Y probably benign Het
Sycp2l A G 13: 41,141,788 (GRCm38) I310M probably damaging Het
Utrn A G 10: 12,406,011 (GRCm38) V3301A probably benign Het
Other mutations in Plcb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00510:Plcb1 APN 2 135,251,756 (GRCm38) missense possibly damaging 0.66
IGL01152:Plcb1 APN 2 134,813,659 (GRCm38) missense probably damaging 1.00
IGL01945:Plcb1 APN 2 135,220,791 (GRCm38) missense probably benign 0.03
IGL01999:Plcb1 APN 2 135,346,318 (GRCm38) missense probably damaging 1.00
IGL02109:Plcb1 APN 2 134,786,559 (GRCm38) missense probably damaging 1.00
IGL02153:Plcb1 APN 2 135,387,853 (GRCm38) missense probably benign 0.08
IGL02207:Plcb1 APN 2 135,387,171 (GRCm38) missense probably damaging 1.00
IGL02566:Plcb1 APN 2 135,472,263 (GRCm38) missense probably benign 0.17
IGL02590:Plcb1 APN 2 135,294,864 (GRCm38) missense probably benign 0.08
IGL02640:Plcb1 APN 2 135,220,859 (GRCm38) splice site probably benign
IGL02926:Plcb1 APN 2 135,364,762 (GRCm38) splice site probably benign
IGL03071:Plcb1 APN 2 135,387,802 (GRCm38) missense probably damaging 1.00
IGL03236:Plcb1 APN 2 135,346,306 (GRCm38) missense probably damaging 1.00
IGL03252:Plcb1 APN 2 135,370,428 (GRCm38) missense probably benign
IGL03387:Plcb1 APN 2 134,813,686 (GRCm38) splice site probably benign
BB001:Plcb1 UTSW 2 135,359,693 (GRCm38) missense probably benign 0.00
BB011:Plcb1 UTSW 2 135,359,693 (GRCm38) missense probably benign 0.00
R0024:Plcb1 UTSW 2 135,362,425 (GRCm38) missense probably benign 0.06
R0053:Plcb1 UTSW 2 135,294,915 (GRCm38) missense probably benign 0.33
R0053:Plcb1 UTSW 2 135,294,915 (GRCm38) missense probably benign 0.33
R0308:Plcb1 UTSW 2 134,813,614 (GRCm38) missense probably benign 0.01
R0415:Plcb1 UTSW 2 135,337,499 (GRCm38) missense probably damaging 1.00
R0624:Plcb1 UTSW 2 135,294,911 (GRCm38) missense possibly damaging 0.81
R0898:Plcb1 UTSW 2 135,387,143 (GRCm38) missense possibly damaging 0.73
R1071:Plcb1 UTSW 2 135,325,657 (GRCm38) missense possibly damaging 0.64
R1615:Plcb1 UTSW 2 135,362,444 (GRCm38) splice site probably benign
R1617:Plcb1 UTSW 2 135,337,441 (GRCm38) missense probably damaging 1.00
R1785:Plcb1 UTSW 2 135,325,667 (GRCm38) nonsense probably null
R1866:Plcb1 UTSW 2 135,344,173 (GRCm38) missense probably benign 0.01
R1869:Plcb1 UTSW 2 135,311,014 (GRCm38) missense probably benign 0.02
R1902:Plcb1 UTSW 2 134,813,613 (GRCm38) missense possibly damaging 0.93
R1938:Plcb1 UTSW 2 135,386,302 (GRCm38) missense probably damaging 1.00
R2016:Plcb1 UTSW 2 135,362,420 (GRCm38) missense possibly damaging 0.94
R2017:Plcb1 UTSW 2 135,362,420 (GRCm38) missense possibly damaging 0.94
R2131:Plcb1 UTSW 2 135,325,667 (GRCm38) nonsense probably null
R2132:Plcb1 UTSW 2 135,325,667 (GRCm38) nonsense probably null
R2133:Plcb1 UTSW 2 135,325,667 (GRCm38) nonsense probably null
R2164:Plcb1 UTSW 2 135,346,330 (GRCm38) missense possibly damaging 0.87
R2419:Plcb1 UTSW 2 135,262,100 (GRCm38) splice site probably benign
R2429:Plcb1 UTSW 2 135,337,442 (GRCm38) missense probably damaging 0.99
R2508:Plcb1 UTSW 2 135,260,508 (GRCm38) missense probably benign 0.27
R3161:Plcb1 UTSW 2 135,335,482 (GRCm38) missense probably benign 0.03
R3870:Plcb1 UTSW 2 135,325,671 (GRCm38) missense probably damaging 0.99
R4191:Plcb1 UTSW 2 135,345,090 (GRCm38) missense probably damaging 1.00
R4239:Plcb1 UTSW 2 135,344,158 (GRCm38) missense probably damaging 0.99
R4552:Plcb1 UTSW 2 135,335,493 (GRCm38) missense probably benign 0.44
R4553:Plcb1 UTSW 2 135,335,493 (GRCm38) missense probably benign 0.44
R4720:Plcb1 UTSW 2 135,251,747 (GRCm38) missense possibly damaging 0.70
R4946:Plcb1 UTSW 2 135,345,095 (GRCm38) missense probably benign 0.01
R5012:Plcb1 UTSW 2 135,333,400 (GRCm38) missense probably null 0.97
R5151:Plcb1 UTSW 2 135,262,245 (GRCm38) missense probably benign 0.28
R5320:Plcb1 UTSW 2 135,252,776 (GRCm38) missense possibly damaging 0.56
R5415:Plcb1 UTSW 2 135,347,402 (GRCm38) missense possibly damaging 0.67
R5523:Plcb1 UTSW 2 135,260,566 (GRCm38) missense probably benign 0.08
R5568:Plcb1 UTSW 2 135,370,593 (GRCm38) missense probably damaging 1.00
R5688:Plcb1 UTSW 2 135,335,480 (GRCm38) missense probably benign 0.06
R5809:Plcb1 UTSW 2 135,262,244 (GRCm38) missense possibly damaging 0.83
R6237:Plcb1 UTSW 2 135,370,566 (GRCm38) missense possibly damaging 0.94
R6315:Plcb1 UTSW 2 135,346,341 (GRCm38) missense probably benign 0.00
R6478:Plcb1 UTSW 2 135,335,451 (GRCm38) missense probably damaging 1.00
R6531:Plcb1 UTSW 2 135,325,802 (GRCm38) critical splice donor site probably null
R6683:Plcb1 UTSW 2 134,786,593 (GRCm38) missense probably benign 0.32
R6760:Plcb1 UTSW 2 135,472,060 (GRCm38) missense possibly damaging 0.50
R6947:Plcb1 UTSW 2 135,386,155 (GRCm38) missense probably benign 0.08
R6976:Plcb1 UTSW 2 135,262,239 (GRCm38) missense possibly damaging 0.75
R7379:Plcb1 UTSW 2 135,370,510 (GRCm38) missense probably benign 0.45
R7473:Plcb1 UTSW 2 135,344,276 (GRCm38) missense probably damaging 0.98
R7492:Plcb1 UTSW 2 135,251,764 (GRCm38) nonsense probably null
R7498:Plcb1 UTSW 2 135,262,234 (GRCm38) missense probably damaging 0.99
R7498:Plcb1 UTSW 2 135,262,233 (GRCm38) nonsense probably null
R7777:Plcb1 UTSW 2 135,220,757 (GRCm38) missense possibly damaging 0.51
R7924:Plcb1 UTSW 2 135,359,693 (GRCm38) missense probably benign 0.00
R8061:Plcb1 UTSW 2 135,346,396 (GRCm38) missense probably benign
R8099:Plcb1 UTSW 2 135,251,734 (GRCm38) missense possibly damaging 0.68
R8299:Plcb1 UTSW 2 135,335,476 (GRCm38) missense probably damaging 1.00
R8394:Plcb1 UTSW 2 135,317,790 (GRCm38) missense probably damaging 1.00
R8439:Plcb1 UTSW 2 135,250,052 (GRCm38) critical splice donor site probably null
R8549:Plcb1 UTSW 2 135,364,933 (GRCm38) missense probably benign 0.00
R8693:Plcb1 UTSW 2 135,252,776 (GRCm38) missense probably benign 0.00
R8750:Plcb1 UTSW 2 135,335,449 (GRCm38) missense probably damaging 1.00
R8817:Plcb1 UTSW 2 135,333,509 (GRCm38) intron probably benign
R8950:Plcb1 UTSW 2 135,337,519 (GRCm38) missense probably damaging 1.00
R9146:Plcb1 UTSW 2 135,340,695 (GRCm38) missense probably damaging 1.00
R9301:Plcb1 UTSW 2 135,325,690 (GRCm38) missense possibly damaging 0.96
R9311:Plcb1 UTSW 2 135,347,465 (GRCm38) missense probably benign 0.00
R9459:Plcb1 UTSW 2 135,322,638 (GRCm38) missense probably benign 0.03
S24628:Plcb1 UTSW 2 135,337,499 (GRCm38) missense probably damaging 1.00
X0025:Plcb1 UTSW 2 135,345,054 (GRCm38) missense possibly damaging 0.87
Z1088:Plcb1 UTSW 2 135,220,846 (GRCm38) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- TGTTACACCTCACACTTGGCACAG -3'
(R):5'- TGCACATTCTTGCAAAGCTGACAC -3'

Sequencing Primer
(F):5'- ATTCCTGATCTTGCCAGAAGG -3'
(R):5'- TGCAAAGCTGACACGTTTC -3'
Posted On 2014-04-30