Incidental Mutation 'R4946:Plcb1'
ID 383392
Institutional Source Beutler Lab
Gene Symbol Plcb1
Ensembl Gene ENSMUSG00000051177
Gene Name phospholipase C, beta 1
Synonyms 3110043I21Rik
MMRRC Submission 042543-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.226) question?
Stock # R4946 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 134786067-135475258 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 135345095 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 761 (I761V)
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: I761V

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000064844
Gene: ENSMUSG00000051177
AA Change: I761V

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: I761V

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000105743
Gene: ENSMUSG00000051177
AA Change: I761V

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: I761V

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000118756
Gene: ENSMUSG00000051177
AA Change: I761V

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
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.3%
Validation Efficiency
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T C 11: 110,086,474 (GRCm38) D98G probably damaging Het
Adgre1 G A 17: 57,443,918 (GRCm38) V531I probably benign Het
Aldoart2 A G 12: 55,566,016 (GRCm38) Q242R probably benign Het
Ank2 A T 3: 126,941,940 (GRCm38) probably benign Het
Ank3 C T 10: 69,898,117 (GRCm38) A737V probably damaging Het
Ankle2 A G 5: 110,253,838 (GRCm38) I789V probably benign Het
Ankrd13c T C 3: 158,005,773 (GRCm38) V510A probably damaging Het
Arid1b T A 17: 5,342,843 (GRCm38) M2216K probably damaging Het
Arrdc1 A G 2: 24,925,848 (GRCm38) V380A probably benign Het
B3galt1 C A 2: 68,118,569 (GRCm38) N209K possibly damaging Het
Cd300c2 A T 11: 114,996,905 (GRCm38) C224S probably benign Het
Cdk4 T C 10: 127,064,890 (GRCm38) probably null Het
Cdk5rap1 T C 2: 154,368,874 (GRCm38) T115A possibly damaging Het
Clvs1 A T 4: 9,281,831 (GRCm38) R92* probably null Het
Cnga1 A G 5: 72,604,764 (GRCm38) V469A probably damaging Het
Ctns A G 11: 73,196,653 (GRCm38) F16L probably benign Het
Dlg5 A T 14: 24,154,361 (GRCm38) C1299S probably damaging Het
Dnah3 T A 7: 119,931,560 (GRCm38) Y3690F probably damaging Het
Dnah5 G A 15: 28,387,904 (GRCm38) V3170M probably damaging Het
Dnah5 A G 15: 28,326,557 (GRCm38) M1971V probably damaging Het
Dpp8 T C 9: 65,055,918 (GRCm38) Y485H probably benign Het
Dsc2 T C 18: 20,050,157 (GRCm38) D68G probably damaging Het
Elavl1 A T 8: 4,301,752 (GRCm38) D121E probably benign Het
Ermap A G 4: 119,183,308 (GRCm38) V311A probably damaging Het
Fam102b A G 3: 108,980,228 (GRCm38) V240A probably benign Het
Fbxw11 C T 11: 32,739,226 (GRCm38) R437C probably damaging Het
Gas2l3 T C 10: 89,413,772 (GRCm38) M495V probably benign Het
Hacd1 C T 2: 14,045,137 (GRCm38) probably null Het
Itgav A G 2: 83,788,983 (GRCm38) R596G probably benign Het
Kars T C 8: 112,001,720 (GRCm38) H215R possibly damaging Het
Kif26a G A 12: 112,177,794 (GRCm38) R1494H probably damaging Het
Klf12 G A 14: 100,022,957 (GRCm38) S112L possibly damaging Het
Krt77 T C 15: 101,869,563 (GRCm38) Y19C unknown Het
Lrrc4c A G 2: 97,630,489 (GRCm38) T487A probably benign Het
Lrrn1 A G 6: 107,568,890 (GRCm38) M550V probably benign Het
Lsr C A 7: 30,958,209 (GRCm38) R442L probably benign Het
Lysmd2 A C 9: 75,635,446 (GRCm38) T112P probably damaging Het
Mctp2 A T 7: 72,259,269 (GRCm38) S99T probably benign Het
Mettl4 A G 17: 94,740,532 (GRCm38) V227A probably benign Het
Mill2 T A 7: 18,856,683 (GRCm38) probably null Het
Mpp3 T C 11: 102,005,022 (GRCm38) N476D probably benign Het
Mtmr6 C T 14: 60,280,189 (GRCm38) P83L possibly damaging Het
Myh3 T C 11: 67,093,538 (GRCm38) I1067T probably benign Het
Myh9 C A 15: 77,773,340 (GRCm38) Q1068H probably damaging Het
Narf T A 11: 121,250,353 (GRCm38) H304Q possibly damaging Het
Nfatc2ip G T 7: 126,396,612 (GRCm38) P35Q possibly damaging Het
Npas3 C A 12: 54,065,835 (GRCm38) P426Q probably damaging Het
Olfr1289 T C 2: 111,483,966 (GRCm38) Y207H possibly damaging Het
Olfr1508 G A 14: 52,463,283 (GRCm38) T242I probably damaging Het
Olfr432 T G 1: 174,050,834 (GRCm38) S154A possibly damaging Het
Olfr467 A G 7: 107,815,382 (GRCm38) H266R possibly damaging Het
Olfr640 T A 7: 104,022,012 (GRCm38) Q102L probably damaging Het
Pcdh10 A T 3: 45,379,482 (GRCm38) E77V probably damaging Het
Pcnt C T 10: 76,356,185 (GRCm38) R2764Q probably damaging Het
Pgbd5 T C 8: 124,370,585 (GRCm38) D493G possibly damaging Het
Piezo2 G T 18: 63,157,262 (GRCm38) T142N probably benign Het
Plekhg4 T G 8: 105,381,996 (GRCm38) D1196E probably null Het
Pparg A G 6: 115,451,028 (GRCm38) K159E probably damaging Het
Psmb1 A T 17: 15,498,216 (GRCm38) M16K probably benign Het
Ptprq T C 10: 107,525,734 (GRCm38) I2139V probably benign Het
Ralgapb T A 2: 158,440,967 (GRCm38) S239T probably damaging Het
Serpina11 A G 12: 103,984,664 (GRCm38) V266A probably damaging Het
Sf3a2 C G 10: 80,804,113 (GRCm38) probably benign Het
Smim18 T C 8: 33,742,559 (GRCm38) T11A possibly damaging Het
Snx6 G A 12: 54,770,743 (GRCm38) T7I probably damaging Het
Srcin1 T A 11: 97,551,942 (GRCm38) D75V probably damaging Het
Srsf12 T A 4: 33,231,174 (GRCm38) S223T probably damaging Het
Taf4b G T 18: 14,813,542 (GRCm38) C474F probably damaging Het
Tango6 T A 8: 106,718,090 (GRCm38) C542* probably null Het
Tbc1d24 A G 17: 24,208,536 (GRCm38) S151P possibly damaging Het
Tssk6 T C 8: 69,903,064 (GRCm38) S253P probably benign Het
Ttc39c G A 18: 12,724,942 (GRCm38) W300* probably null Het
Ttc6 T A 12: 57,643,140 (GRCm38) W539R probably benign Het
Ttn C A 2: 76,918,709 (GRCm38) E3999* probably null Het
Ttn T C 2: 76,752,426 (GRCm38) T22708A probably damaging Het
Vill T G 9: 119,068,440 (GRCm38) L261R probably damaging Het
Vmn1r20 T C 6: 57,432,174 (GRCm38) S162P probably damaging Het
Zfp516 T C 18: 82,956,094 (GRCm38) I139T 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
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
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'- TTTCTTACAACACAGAGAGGCAAC -3'
(R):5'- ACTTTTACAGCACAGCAACATG -3'

Sequencing Primer
(F):5'- CAGGGCCAGCTTTTCTAA -3'
(R):5'- TTTTACAGCACAGCAACATGACAAAC -3'
Posted On 2016-04-27