Incidental Mutation 'R6792:Plcb2'
ID 532626
Institutional Source Beutler Lab
Gene Symbol Plcb2
Ensembl Gene ENSMUSG00000040061
Gene Name phospholipase C, beta 2
Synonyms B230205M18Rik
MMRRC Submission 044905-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6792 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 118537998-118558919 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 118549922 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 232 (N232S)
Ref Sequence ENSEMBL: ENSMUSP00000124364 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102524] [ENSMUST00000159756]
AlphaFold A3KGF7
Predicted Effect probably damaging
Transcript: ENSMUST00000102524
AA Change: N255S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099583
Gene: ENSMUSG00000040061
AA Change: N255S

DomainStartEndE-ValueType
low complexity region 3 13 N/A INTRINSIC
Pfam:EF-hand_like 220 311 2.5e-24 PFAM
PLCXc 312 463 2.87e-79 SMART
low complexity region 504 518 N/A INTRINSIC
PLCYc 547 663 2.39e-67 SMART
C2 684 783 9.17e-15 SMART
low complexity region 902 925 N/A INTRINSIC
low complexity region 929 940 N/A INTRINSIC
Pfam:PLC-beta_C 974 1149 4.7e-72 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000159756
AA Change: N232S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124364
Gene: ENSMUSG00000040061
AA Change: N232S

DomainStartEndE-ValueType
low complexity region 3 13 N/A INTRINSIC
Pfam:EF-hand_like 197 288 7.1e-26 PFAM
PLCXc 289 440 2.87e-79 SMART
low complexity region 481 495 N/A INTRINSIC
PLCYc 524 640 2.39e-67 SMART
C2 661 760 9.17e-15 SMART
low complexity region 879 902 N/A INTRINSIC
low complexity region 906 917 N/A INTRINSIC
Pfam:PLC-beta_C 946 1129 5.1e-68 PFAM
Meta Mutation Damage Score 0.8453 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.7%
Validation Efficiency 98% (51/52)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a phosphodiesterase that catalyzes the hydrolysis of phosphatidylinositol 4,5-bisphosphate to the second messengers inositol 1,4,5-trisphosphate (IP3) and diacylglycerol. The encoded protein is activated by G proteins and has been shown to be involved in the type 2 taste receptor signal transduction pathway. In addition, nuclear factor kappa B can regulate the transcription of this gene, whose protein product is also an important regulator of platelet responses. [provided by RefSeq, Jan 2017]
PHENOTYPE: Homozygous mutant mice showed an increased sensitivity to both bacterial and viral infections and exhibited abnormal taste perception in which sweet, umami, and bitter stimuli could not be sensed. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 G A 6: 128,523,292 (GRCm39) Q1215* probably null Het
Aldh2 C T 5: 121,718,712 (GRCm39) G64R probably damaging Het
Atp11a G A 8: 12,911,939 (GRCm39) probably benign Het
Bcl11b T C 12: 107,955,993 (GRCm39) D52G probably damaging Het
Bltp1 A G 3: 37,065,715 (GRCm39) probably null Het
Capg T A 6: 72,532,537 (GRCm39) I34K possibly damaging Het
Card11 T A 5: 140,899,064 (GRCm39) I37F probably damaging Het
Col27a1 G T 4: 63,235,740 (GRCm39) R724L unknown Het
Cryl1 T C 14: 57,620,224 (GRCm39) E47G probably damaging Het
Dgkb A T 12: 38,150,424 (GRCm39) D70V possibly damaging Het
Dscam T C 16: 96,394,455 (GRCm39) E1949G probably damaging Het
Dscam A G 16: 96,449,437 (GRCm39) V1387A probably damaging Het
Exph5 G A 9: 53,286,617 (GRCm39) V1233M possibly damaging Het
Fat3 A T 9: 16,286,940 (GRCm39) V861E probably damaging Het
Fgfr4 T G 13: 55,304,711 (GRCm39) D184E possibly damaging Het
Fkbp14 G T 6: 54,562,837 (GRCm39) S49* probably null Het
Ginm1 T C 10: 7,649,747 (GRCm39) D182G probably damaging Het
Gk2 T C 5: 97,603,588 (GRCm39) I417V probably benign Het
Kmt2e TGCCGCCGCCGCCGCCACCGCCGCCGCCGC TGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGC 5: 23,704,474 (GRCm39) probably benign Het
Malrd1 C T 2: 16,155,567 (GRCm39) P1992L unknown Het
Mapk6 A T 9: 75,302,830 (GRCm39) I221N probably damaging Het
Mup9 A G 4: 60,377,354 (GRCm39) V65A possibly damaging Het
Myo15b A G 11: 115,775,923 (GRCm39) D805G probably damaging Het
Nup50l T C 6: 96,142,096 (GRCm39) E316G possibly damaging Het
Or52a5b A G 7: 103,417,346 (GRCm39) I86T possibly damaging Het
Or8k35 A T 2: 86,424,283 (GRCm39) D296E probably benign Het
Otof T A 5: 30,532,978 (GRCm39) H1588L probably damaging Het
Pakap A G 4: 57,855,880 (GRCm39) D403G possibly damaging Het
Pde4a A G 9: 21,103,886 (GRCm39) K145R probably benign Het
Pik3ap1 A T 19: 41,310,065 (GRCm39) D418E probably benign Het
Pilrb2 C A 5: 137,866,852 (GRCm39) R217M possibly damaging Het
Ppargc1b C A 18: 61,440,747 (GRCm39) G724W probably damaging Het
Ppp2r5d A G 17: 47,015,782 (GRCm39) S2P probably benign Het
Prr5l T G 2: 101,547,769 (GRCm39) N252T probably benign Het
Rbmyf5 A G Y: 3,298,867 (GRCm39) Y206H possibly damaging Homo
Rilp A T 11: 75,403,601 (GRCm39) K348* probably null Het
Slc17a7 A G 7: 44,824,299 (GRCm39) E505G possibly damaging Het
Slc6a21 T A 7: 44,929,309 (GRCm39) M1K probably null Het
Sorcs1 T C 19: 50,666,606 (GRCm39) T101A probably benign Het
Sorl1 A T 9: 42,010,559 (GRCm39) V137E probably damaging Het
Stam2 T C 2: 52,597,993 (GRCm39) I270V probably benign Het
Synj2 G A 17: 6,040,565 (GRCm39) A214T probably benign Het
Tars3 G T 7: 65,312,051 (GRCm39) C321F probably damaging Het
Tcea1 T A 1: 4,962,268 (GRCm39) D229E probably benign Het
Tdrd9 C T 12: 111,993,547 (GRCm39) R692W probably benign Het
Tkfc T C 19: 10,571,888 (GRCm39) T383A probably benign Het
Traf1 T C 2: 34,846,287 (GRCm39) D43G probably benign Het
Tubgcp6 C T 15: 89,007,080 (GRCm39) probably benign Het
Vit A T 17: 78,886,828 (GRCm39) Y152F probably damaging Het
Vmn1r66 A T 7: 10,008,412 (GRCm39) M207K possibly damaging Het
Other mutations in Plcb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00580:Plcb2 APN 2 118,549,370 (GRCm39) missense probably damaging 1.00
IGL00715:Plcb2 APN 2 118,544,215 (GRCm39) critical splice donor site probably null
IGL00851:Plcb2 APN 2 118,558,732 (GRCm39) missense probably benign 0.30
IGL01765:Plcb2 APN 2 118,540,749 (GRCm39) splice site probably benign
IGL01837:Plcb2 APN 2 118,542,407 (GRCm39) splice site probably null
IGL01868:Plcb2 APN 2 118,541,868 (GRCm39) missense probably benign 0.09
IGL01868:Plcb2 APN 2 118,540,071 (GRCm39) missense probably damaging 1.00
IGL02158:Plcb2 APN 2 118,541,844 (GRCm39) missense probably benign 0.06
IGL02447:Plcb2 APN 2 118,543,636 (GRCm39) missense probably damaging 1.00
IGL02490:Plcb2 APN 2 118,550,241 (GRCm39) missense probably damaging 0.99
IGL02691:Plcb2 APN 2 118,541,444 (GRCm39) missense probably benign 0.00
IGL02723:Plcb2 APN 2 118,547,500 (GRCm39) splice site probably benign
IGL02929:Plcb2 APN 2 118,543,715 (GRCm39) splice site probably benign
IGL02949:Plcb2 APN 2 118,549,590 (GRCm39) splice site probably null
PIT4480001:Plcb2 UTSW 2 118,553,977 (GRCm39) missense probably benign 0.00
R0031:Plcb2 UTSW 2 118,545,942 (GRCm39) missense probably benign 0.36
R0157:Plcb2 UTSW 2 118,549,022 (GRCm39) missense probably damaging 0.98
R0366:Plcb2 UTSW 2 118,554,928 (GRCm39) missense probably benign 0.01
R0376:Plcb2 UTSW 2 118,547,721 (GRCm39) missense probably damaging 0.99
R0570:Plcb2 UTSW 2 118,547,806 (GRCm39) missense probably benign 0.32
R0790:Plcb2 UTSW 2 118,542,964 (GRCm39) splice site probably benign
R0893:Plcb2 UTSW 2 118,555,586 (GRCm39) splice site probably benign
R1647:Plcb2 UTSW 2 118,554,261 (GRCm39) missense possibly damaging 0.51
R1648:Plcb2 UTSW 2 118,554,261 (GRCm39) missense possibly damaging 0.51
R1686:Plcb2 UTSW 2 118,546,168 (GRCm39) splice site probably benign
R2210:Plcb2 UTSW 2 118,547,984 (GRCm39) missense probably damaging 1.00
R2211:Plcb2 UTSW 2 118,554,015 (GRCm39) missense probably benign 0.05
R2251:Plcb2 UTSW 2 118,554,246 (GRCm39) missense probably benign 0.10
R2252:Plcb2 UTSW 2 118,554,246 (GRCm39) missense probably benign 0.10
R2253:Plcb2 UTSW 2 118,554,246 (GRCm39) missense probably benign 0.10
R2426:Plcb2 UTSW 2 118,546,130 (GRCm39) missense probably damaging 1.00
R3970:Plcb2 UTSW 2 118,546,171 (GRCm39) splice site probably benign
R4007:Plcb2 UTSW 2 118,541,274 (GRCm39) missense probably damaging 1.00
R4162:Plcb2 UTSW 2 118,540,068 (GRCm39) missense probably damaging 1.00
R4236:Plcb2 UTSW 2 118,540,047 (GRCm39) missense probably damaging 1.00
R4422:Plcb2 UTSW 2 118,542,484 (GRCm39) missense probably benign 0.28
R4772:Plcb2 UTSW 2 118,543,615 (GRCm39) missense probably benign 0.20
R4795:Plcb2 UTSW 2 118,541,605 (GRCm39) missense probably benign 0.32
R4935:Plcb2 UTSW 2 118,549,396 (GRCm39) missense probably damaging 1.00
R5019:Plcb2 UTSW 2 118,542,617 (GRCm39) missense probably benign 0.01
R5055:Plcb2 UTSW 2 118,548,703 (GRCm39) missense probably benign 0.06
R5452:Plcb2 UTSW 2 118,548,727 (GRCm39) missense probably damaging 0.98
R5622:Plcb2 UTSW 2 118,545,210 (GRCm39) missense probably damaging 1.00
R5752:Plcb2 UTSW 2 118,541,532 (GRCm39) intron probably benign
R6284:Plcb2 UTSW 2 118,547,782 (GRCm39) missense probably benign 0.37
R6380:Plcb2 UTSW 2 118,545,949 (GRCm39) missense probably damaging 1.00
R6574:Plcb2 UTSW 2 118,549,654 (GRCm39) missense probably damaging 0.99
R6728:Plcb2 UTSW 2 118,554,171 (GRCm39) missense probably damaging 1.00
R7529:Plcb2 UTSW 2 118,540,715 (GRCm39) missense probably damaging 1.00
R7560:Plcb2 UTSW 2 118,546,124 (GRCm39) missense probably damaging 0.99
R7610:Plcb2 UTSW 2 118,550,240 (GRCm39) missense possibly damaging 0.86
R7760:Plcb2 UTSW 2 118,541,869 (GRCm39) missense probably benign
R8152:Plcb2 UTSW 2 118,541,302 (GRCm39) missense probably benign 0.22
R8170:Plcb2 UTSW 2 118,541,934 (GRCm39) missense possibly damaging 0.68
R8413:Plcb2 UTSW 2 118,549,304 (GRCm39) missense probably damaging 1.00
R8913:Plcb2 UTSW 2 118,544,365 (GRCm39) missense probably damaging 1.00
R9072:Plcb2 UTSW 2 118,547,878 (GRCm39) missense possibly damaging 0.67
R9758:Plcb2 UTSW 2 118,545,921 (GRCm39) missense probably damaging 0.97
R9773:Plcb2 UTSW 2 118,541,274 (GRCm39) missense probably damaging 1.00
X0024:Plcb2 UTSW 2 118,542,856 (GRCm39) missense probably benign 0.13
Z1176:Plcb2 UTSW 2 118,553,609 (GRCm39) missense probably damaging 0.99
Z1177:Plcb2 UTSW 2 118,539,681 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GTGAACAGCAAGCAGTCACG -3'
(R):5'- CGACGAGATCTTCACTTCCTAG -3'

Sequencing Primer
(F):5'- AAGCAGTCACGGCTGTCACTC -3'
(R):5'- ACTTCCTAGTGAGTTCCTTGGGC -3'
Posted On 2018-08-29