Incidental Mutation 'R6284:Plcb2'
ID 508089
Institutional Source Beutler Lab
Gene Symbol Plcb2
Ensembl Gene ENSMUSG00000040061
Gene Name phospholipase C, beta 2
Synonyms B230205M18Rik
MMRRC Submission 044454-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6284 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 118537998-118558919 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 118547782 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 482 (V482M)
Ref Sequence ENSEMBL: ENSMUSP00000124364 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102524] [ENSMUST00000159756]
AlphaFold A3KGF7
Predicted Effect noncoding transcript
Transcript: ENSMUST00000006415
Predicted Effect probably benign
Transcript: ENSMUST00000102524
AA Change: V505M

PolyPhen 2 Score 0.214 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000099583
Gene: ENSMUSG00000040061
AA Change: V505M

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 noncoding transcript
Transcript: ENSMUST00000127248
Predicted Effect probably benign
Transcript: ENSMUST00000159756
AA Change: V482M

PolyPhen 2 Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000124364
Gene: ENSMUSG00000040061
AA Change: V482M

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 100% (64/64)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610030E20Rik G T 6: 72,324,437 (GRCm39) G16C probably damaging Het
Abca7 G A 10: 79,840,244 (GRCm39) V801I probably benign Het
Adgrl2 A T 3: 148,532,143 (GRCm39) L1030Q probably damaging Het
Akap1 T C 11: 88,735,394 (GRCm39) T423A possibly damaging Het
Anpep T A 7: 79,475,550 (GRCm39) D111V probably damaging Het
Atm T A 9: 53,356,676 (GRCm39) probably null Het
Atp5f1a T A 18: 77,866,168 (GRCm39) S106T probably benign Het
Atp5me T C 5: 108,581,925 (GRCm39) I20V probably benign Het
Atp6v0d2 T A 4: 19,922,605 (GRCm39) probably null Het
Bclaf1 T G 10: 20,197,906 (GRCm39) probably null Het
Bod1l A G 5: 41,976,130 (GRCm39) V1728A probably benign Het
Braf A G 6: 39,665,216 (GRCm39) F51L possibly damaging Het
Camsap2 A G 1: 136,232,175 (GRCm39) I140T possibly damaging Het
Ccdc24 A T 4: 117,726,850 (GRCm39) probably null Het
Cdh26 G C 2: 178,091,677 (GRCm39) G79R probably damaging Het
Cenpf A G 1: 189,384,939 (GRCm39) L2447P probably damaging Het
Cfap74 T C 4: 155,536,253 (GRCm39) F863L probably damaging Het
Clstn2 C T 9: 97,336,727 (GRCm39) G917S probably benign Het
Col6a6 A T 9: 105,604,426 (GRCm39) probably null Het
Cul5 G A 9: 53,535,035 (GRCm39) P596L probably damaging Het
Dst A T 1: 34,268,166 (GRCm39) R2863W probably damaging Het
Dthd1 A G 5: 62,971,384 (GRCm39) E69G possibly damaging Het
Elp1 A T 4: 56,762,281 (GRCm39) I1106K probably damaging Het
Erich2 T A 2: 70,370,028 (GRCm39) I402N probably damaging Het
Fam162b T C 10: 51,461,598 (GRCm39) K155R probably damaging Het
Fhip1a G A 3: 85,579,995 (GRCm39) P737S probably benign Het
Glb1l2 A T 9: 26,678,744 (GRCm39) S466T probably benign Het
Kazn G A 4: 141,844,508 (GRCm39) L402F probably benign Het
Kcnj13 A T 1: 87,314,608 (GRCm39) S205T probably damaging Het
Lama1 T A 17: 68,117,091 (GRCm39) V2462E probably damaging Het
Lce1b A C 3: 92,563,411 (GRCm39) C41G unknown Het
Lyar T A 5: 38,383,339 (GRCm39) W77R probably damaging Het
Marchf11 G A 15: 26,409,432 (GRCm39) R377Q probably benign Het
Mis18bp1 A G 12: 65,185,561 (GRCm39) F869L probably benign Het
Myom1 T A 17: 71,329,887 (GRCm39) Y6* probably null Het
Myzap T C 9: 71,466,207 (GRCm39) I150V probably benign Het
Nop14 C T 5: 34,798,835 (GRCm39) probably null Het
Oprl1 T A 2: 181,359,784 (GRCm39) probably benign Het
Pacsin1 T C 17: 27,927,478 (GRCm39) L432P probably damaging Het
Peak1 A G 9: 56,167,580 (GRCm39) L116P probably benign Het
Pnliprp1 T A 19: 58,723,416 (GRCm39) I269N probably damaging Het
Pnpla7 C A 2: 24,906,630 (GRCm39) D664E possibly damaging Het
Ppa2 G A 3: 133,076,178 (GRCm39) R269H probably benign Het
Rps6kb2 G T 19: 4,211,186 (GRCm39) T113K probably benign Het
Rrp7a A T 15: 83,006,061 (GRCm39) I63N probably damaging Het
Slc29a1 A G 17: 45,900,847 (GRCm39) probably null Het
Slco1a7 T C 6: 141,671,119 (GRCm39) D451G probably damaging Het
Stxbp5 C A 10: 9,642,931 (GRCm39) G1056V probably damaging Het
Stxbp5 A C 10: 9,642,923 (GRCm39) S1059A probably benign Het
Taldo1 T A 7: 140,978,496 (GRCm39) S149T possibly damaging Het
Tlr1 T C 5: 65,084,442 (GRCm39) D45G possibly damaging Het
Tnrc6a T C 7: 122,770,558 (GRCm39) S783P probably damaging Het
Trap1 A G 16: 3,878,673 (GRCm39) Y220H probably benign Het
Trpc6 A G 9: 8,643,601 (GRCm39) D462G possibly damaging Het
Ttc21a A G 9: 119,773,028 (GRCm39) E235G probably damaging Het
Tubb4a A G 17: 57,387,833 (GRCm39) Y398H probably damaging Het
Ube2z A G 11: 95,941,233 (GRCm39) F303S probably damaging Het
Vmn1r211 A G 13: 23,036,254 (GRCm39) S138P probably damaging Het
Zfp1002 T A 2: 150,097,198 (GRCm39) Y77F possibly damaging Het
Zfp93 T A 7: 23,975,054 (GRCm39) C346* probably null Het
Zfp938 A T 10: 82,063,400 (GRCm39) S52R possibly damaging Het
Zp1 A T 19: 10,893,867 (GRCm39) L446Q probably 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
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
R6792:Plcb2 UTSW 2 118,549,922 (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'- GACATTTCCTCATAAGCTGTCAC -3'
(R):5'- AGTTTTCTGGGCCAGCATCC -3'

Sequencing Primer
(F):5'- TCATAAGCTGTCACCTCCAGG -3'
(R):5'- GCATCCCCCAGCAAGAAG -3'
Posted On 2018-03-15