Incidental Mutation 'R6315:Plcb1'
ID 510570
Institutional Source Beutler Lab
Gene Symbol Plcb1
Ensembl Gene ENSMUSG00000051177
Gene Name phospholipase C, beta 1
Synonyms 3110043I21Rik
MMRRC Submission 044472-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.204) question?
Stock # R6315 (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 135188261 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 785 (T785S)
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: T785S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000064844
Gene: ENSMUSG00000051177
AA Change: T785S

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: T785S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000105743
Gene: ENSMUSG00000051177
AA Change: T785S

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: T785S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000118756
Gene: ENSMUSG00000051177
AA Change: T785S

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 0.0770 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 97% (64/66)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T C 7: 119,945,315 (GRCm39) Y464H probably damaging Het
Ahnak T C 19: 8,983,990 (GRCm39) M1758T probably damaging Het
Ak9 A T 10: 41,282,837 (GRCm39) D1201V possibly damaging Het
Amdhd2 A C 17: 24,377,330 (GRCm39) H203Q probably benign Het
Ano3 A G 2: 110,527,384 (GRCm39) M608T probably damaging Het
Arhgef4 G A 1: 34,762,558 (GRCm39) A605T unknown Het
Atp1a2 C G 1: 172,116,903 (GRCm39) R238P probably damaging Het
Atp8b1 C A 18: 64,664,550 (GRCm39) R1206L probably damaging Het
B4galt5 A T 2: 167,147,729 (GRCm39) N215K probably damaging Het
Bpifa1 A G 2: 153,987,996 (GRCm39) K180E possibly damaging Het
Cadm1 C T 9: 47,721,417 (GRCm39) T269M probably damaging Het
Cadm3 T C 1: 173,171,919 (GRCm39) D252G probably benign Het
Ccdc18 A G 5: 108,309,448 (GRCm39) R348G probably benign Het
Cers4 G A 8: 4,566,980 (GRCm39) C94Y probably benign Het
Cfap58 G A 19: 47,929,716 (GRCm39) R59H probably benign Het
Col19a1 C T 1: 24,565,533 (GRCm39) G266D unknown Het
Col6a5 G T 9: 105,759,169 (GRCm39) F2012L probably damaging Het
Dnah6 T C 6: 73,168,588 (GRCm39) Q445R probably benign Het
Dsg3 A G 18: 20,657,643 (GRCm39) S238G probably benign Het
E130308A19Rik G A 4: 59,691,132 (GRCm39) S322N probably benign Het
Eif5b A G 1: 38,057,114 (GRCm39) D57G unknown Het
Fbn2 T C 18: 58,188,025 (GRCm39) probably null Het
Fbxo38 A T 18: 62,669,218 (GRCm39) C77* probably null Het
Fgb T A 3: 82,952,362 (GRCm39) Q169L probably benign Het
Fut9 A T 4: 25,619,774 (GRCm39) Y347N probably damaging Het
Gabrg2 T C 11: 41,862,688 (GRCm39) K132R probably damaging Het
Gpn3 C T 5: 122,510,638 (GRCm39) probably benign Het
Helz2 A G 2: 180,874,995 (GRCm39) L1833P probably damaging Het
Hk3 C T 13: 55,158,970 (GRCm39) D484N probably benign Het
Icam4 T C 9: 20,941,248 (GRCm39) V129A probably damaging Het
Impdh2 T C 9: 108,440,638 (GRCm39) S280P possibly damaging Het
Impg1 C A 9: 80,301,356 (GRCm39) G267V probably benign Het
Iqgap1 C T 7: 80,449,638 (GRCm39) V39M possibly damaging Het
Lyst A G 13: 13,818,089 (GRCm39) N1253S probably benign Het
Mgat4b T A 11: 50,122,591 (GRCm39) V195E probably damaging Het
Mrgprb8 C T 7: 48,038,983 (GRCm39) T218I probably damaging Het
Myrfl T G 10: 116,658,724 (GRCm39) E411A possibly damaging Het
Myt1l T C 12: 29,877,797 (GRCm39) S483P unknown Het
Neil2 A G 14: 63,420,920 (GRCm39) V80A possibly damaging Het
Nfe2l2 G T 2: 75,507,163 (GRCm39) D312E probably damaging Het
Nin A T 12: 70,092,389 (GRCm39) L640Q probably damaging Het
Nup205 T A 6: 35,213,804 (GRCm39) I1732N probably damaging Het
Nup42 T C 5: 24,372,502 (GRCm39) S97P probably damaging Het
Or5b114-ps1 T C 19: 13,352,769 (GRCm39) C148R unknown Het
Or5k16 A C 16: 58,736,609 (GRCm39) Y132D probably damaging Het
Plch1 C T 3: 63,688,811 (GRCm39) W131* probably null Het
Ppp1r1b A G 11: 98,246,216 (GRCm39) E66G probably damaging Het
Ros1 A T 10: 51,994,306 (GRCm39) W1325R probably benign Het
Sec14l5 A C 16: 4,998,141 (GRCm39) E500A possibly damaging Het
Sirpb1c A G 3: 15,886,470 (GRCm39) V302A possibly damaging Het
Spata19 T C 9: 27,312,133 (GRCm39) Y107H possibly damaging Het
Sv2a G A 3: 96,095,502 (GRCm39) M298I probably benign Het
Tdrd6 A T 17: 43,937,229 (GRCm39) M1273K probably benign Het
Tectb A G 19: 55,179,904 (GRCm39) H250R possibly damaging Het
Trip11 T G 12: 101,851,837 (GRCm39) E742D possibly damaging Het
Tslp A G 18: 32,950,143 (GRCm39) T71A probably benign Het
Usp20 C T 2: 30,907,770 (GRCm39) R711C possibly damaging Het
Vmn1r181 G A 7: 23,684,183 (GRCm39) R216Q probably benign Het
Vmn2r8 A T 5: 108,949,757 (GRCm39) F363L probably benign Het
Vsnl1 T A 12: 11,382,156 (GRCm39) N75I probably damaging Het
Wdr55 A T 18: 36,895,122 (GRCm39) D96V probably damaging Het
Wls T A 3: 159,640,007 (GRCm39) probably null Het
Zc3h13 A G 14: 75,546,355 (GRCm39) D152G probably damaging Het
Zc3h18 A G 8: 123,110,604 (GRCm39) E151G probably benign Het
Zfat A G 15: 67,956,311 (GRCm39) S1174P probably damaging Het
Zfyve9 T A 4: 108,531,685 (GRCm39) T416S probably damaging 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
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
R8061:Plcb1 UTSW 2 135,188,316 (GRCm39) missense probably benign
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'- GGTTAGGATTCCAATGGACACAG -3'

Sequencing Primer
(F):5'- AGCAGAGCCATCAGTGTTTGAATTG -3'
(R):5'- TTCCAATGGACACAGAAAGGTTC -3'
Posted On 2018-04-02