Incidental Mutation 'R3870:Plcb1'
ID 276486
Institutional Source Beutler Lab
Gene Symbol Plcb1
Ensembl Gene ENSMUSG00000051177
Gene Name phospholipase C, beta 1
Synonyms 3110043I21Rik
MMRRC Submission 040789-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.226) question?
Stock # R3870 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 134786067-135475258 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 135325671 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 462 (I462L)
Ref Sequence ENSEMBL: ENSMUSP00000118756 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070724] [ENSMUST00000110116] [ENSMUST00000131552]
AlphaFold Q9Z1B3
Predicted Effect probably damaging
Transcript: ENSMUST00000070724
AA Change: I462L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000064844
Gene: ENSMUSG00000051177
AA Change: I462L

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 damaging
Transcript: ENSMUST00000110116
AA Change: I462L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000105743
Gene: ENSMUSG00000051177
AA Change: I462L

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 damaging
Transcript: ENSMUST00000131552
AA Change: I462L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118756
Gene: ENSMUSG00000051177
AA Change: I462L

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 0.3515 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 90% (61/68)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028J19Rik T A 7: 44,231,404 (GRCm38) probably null Het
Adam22 C A 5: 8,132,418 (GRCm38) C514F probably damaging Het
Akap8 G A 17: 32,317,839 (GRCm38) probably benign Het
Armcx2 A T X: 134,806,299 (GRCm38) V195E probably benign Het
Atg7 T C 6: 114,697,047 (GRCm38) S301P possibly damaging Het
Cc2d2a C A 5: 43,718,691 (GRCm38) Y1003* probably null Het
Ccdc93 A G 1: 121,463,114 (GRCm38) S272G probably benign Het
Ces1d C G 8: 93,175,086 (GRCm38) L418F probably benign Het
Cntnap5a A G 1: 116,060,249 (GRCm38) E170G probably damaging Het
Cplane1 A T 15: 8,218,464 (GRCm38) K1499M probably damaging Het
Crygs C T 16: 22,805,551 (GRCm38) G102D possibly damaging Het
Ehd4 T A 2: 120,136,953 (GRCm38) D120V probably damaging Het
Eif4g3 T A 4: 138,096,900 (GRCm38) V71E probably damaging Het
Exoc5 A G 14: 49,019,396 (GRCm38) probably benign Het
Glud1 T A 14: 34,325,580 (GRCm38) probably benign Het
Gm10985 TTCTCTCTCTCTCTCTCT TTCTCTCTCTCTCTCT 3: 53,845,205 (GRCm38) probably null Het
Gm11555 G T 11: 99,649,990 (GRCm38) C64* probably null Het
Gm5468 A G 15: 25,414,475 (GRCm38) probably benign Het
Gpatch2 T A 1: 187,322,294 (GRCm38) L74Q probably damaging Het
Hnrnpa0 G A 13: 58,127,899 (GRCm38) R139C probably damaging Het
Hrh1 A G 6: 114,480,919 (GRCm38) Y387C probably damaging Het
Ldb3 A T 14: 34,567,483 (GRCm38) D216E probably damaging Het
Lingo1 A T 9: 56,619,725 (GRCm38) S533T probably benign Het
Lmtk2 T G 5: 144,166,427 (GRCm38) probably benign Het
Map1s A G 8: 70,917,101 (GRCm38) E939G possibly damaging Het
Mast1 G A 8: 84,918,731 (GRCm38) T695I probably damaging Het
Mettl21e G A 1: 44,206,364 (GRCm38) R241W probably benign Het
Mfsd4a G A 1: 132,046,353 (GRCm38) T261I probably damaging Het
Mmel1 T C 4: 154,883,638 (GRCm38) S144P probably benign Het
Myo16 A T 8: 10,442,239 (GRCm38) H727L probably benign Het
Ncoa6 T C 2: 155,415,557 (GRCm38) probably null Het
Nipa2 T C 7: 55,932,942 (GRCm38) R352G probably damaging Het
Oaf C T 9: 43,222,758 (GRCm38) R222Q probably benign Het
Or2ag2b T A 7: 106,818,840 (GRCm38) Y252* probably null Het
Pard3 T C 8: 127,409,686 (GRCm38) S847P probably damaging Het
Pgbd1 C T 13: 21,434,370 (GRCm38) R39H possibly damaging Het
Prex2 T C 1: 11,160,192 (GRCm38) V814A possibly damaging Het
Rasal3 G A 17: 32,393,548 (GRCm38) R780W possibly damaging Het
Rubcnl C T 14: 75,040,916 (GRCm38) P380L probably benign Het
Ryk A G 9: 102,891,228 (GRCm38) E359G probably damaging Het
Sall2 C A 14: 52,313,994 (GRCm38) L579F probably damaging Het
Satb2 A G 1: 56,891,220 (GRCm38) S215P probably damaging Het
Scg3 T C 9: 75,675,499 (GRCm38) probably benign Het
Slc35f5 A G 1: 125,562,361 (GRCm38) T65A probably benign Het
Snx33 T C 9: 56,926,740 (GRCm38) N15S probably benign Het
Stat2 T A 10: 128,277,893 (GRCm38) S180R probably benign Het
Stxbp2 A G 8: 3,634,079 (GRCm38) T129A probably damaging Het
Tas1r3 A T 4: 155,861,353 (GRCm38) C529S probably damaging Het
Tlr12 T A 4: 128,616,568 (GRCm38) M630L probably benign Het
Tnfrsf10b T G 14: 69,773,456 (GRCm38) D103E probably benign Het
Togaram1 A C 12: 65,002,645 (GRCm38) E1285D probably benign Het
Tppp A G 13: 74,030,772 (GRCm38) T111A probably benign Het
Trim12c T C 7: 104,348,337 (GRCm38) Q4R probably benign Het
Ttbk2 T G 2: 120,740,019 (GRCm38) S1149R probably damaging Het
Uncx T C 5: 139,547,365 (GRCm38) L395P probably damaging Het
Usp14 A G 18: 10,002,370 (GRCm38) S314P possibly damaging Het
Usp32 A T 11: 85,007,055 (GRCm38) Y1153* probably null Het
Vmn2r6 T C 3: 64,556,621 (GRCm38) E264G probably damaging Het
Vmn2r77 T C 7: 86,811,842 (GRCm38) F792S probably damaging Het
Vps13c A G 9: 67,884,726 (GRCm38) I425V probably benign Het
Vstm4 C T 14: 32,863,755 (GRCm38) A93V probably benign Het
Xrcc6 T A 15: 82,025,684 (GRCm38) S97T probably benign Het
Zscan20 A G 4: 128,586,425 (GRCm38) C758R probably damaging 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
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
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'- GCAGGGCACAATTAGAATGC -3'
(R):5'- AAGCTGAAAGCCCTTCTAGG -3'

Sequencing Primer
(F):5'- CAGGGCACAATTAGAATGCTTTCG -3'
(R):5'- CTTCTAGGCCAATTTCAGAGCAG -3'
Posted On 2015-04-06