Incidental Mutation 'IGL02447:Plcb2'
ID 294030
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plcb2
Ensembl Gene ENSMUSG00000040061
Gene Name phospholipase C, beta 2
Synonyms B230205M18Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02447
Quality Score
Status
Chromosome 2
Chromosomal Location 118537998-118558919 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 118543636 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 745 (I745N)
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 damaging
Transcript: ENSMUST00000102524
AA Change: I768N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099583
Gene: ENSMUSG00000040061
AA Change: I768N

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: ENSMUST00000126907
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127248
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129153
Predicted Effect probably damaging
Transcript: ENSMUST00000159756
AA Change: I745N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124364
Gene: ENSMUSG00000040061
AA Change: I745N

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
Coding Region Coverage
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 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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm4 T A 4: 144,401,269 (GRCm39) I72F probably benign Het
Abhd18 T A 3: 40,888,208 (GRCm39) F351I probably benign Het
Agfg1 T A 1: 82,859,944 (GRCm39) probably benign Het
Antxr2 C T 5: 98,178,267 (GRCm39) V48I possibly damaging Het
Bcl9l T C 9: 44,418,631 (GRCm39) M823T probably benign Het
Card11 G A 5: 140,892,679 (GRCm39) H129Y possibly damaging Het
Ccr1 A T 9: 123,763,753 (GRCm39) V259E probably benign Het
Cdk13 G T 13: 17,947,001 (GRCm39) P586T probably benign Het
Cep295 C T 9: 15,243,807 (GRCm39) V1502I probably damaging Het
Csnk1g3 T C 18: 54,028,942 (GRCm39) S32P probably benign Het
Dpysl4 G A 7: 138,678,516 (GRCm39) R492Q probably damaging Het
Duox2 A G 2: 122,127,949 (GRCm39) L78P probably damaging Het
Gm7361 T C 5: 26,462,853 (GRCm39) S32P probably benign Het
Grip1 T A 10: 119,855,976 (GRCm39) V234E probably damaging Het
Herc1 A T 9: 66,404,610 (GRCm39) I4477L possibly damaging Het
Il18r1 G A 1: 40,537,497 (GRCm39) probably null Het
Itpkb A G 1: 180,248,919 (GRCm39) probably benign Het
Jag2 T C 12: 112,876,232 (GRCm39) Y799C probably damaging Het
Jak2 A G 19: 29,277,014 (GRCm39) K857R probably damaging Het
Kbtbd12 A T 6: 88,595,676 (GRCm39) S51R probably damaging Het
Kcnc2 T G 10: 112,291,851 (GRCm39) D346E probably damaging Het
Kcnh1 T A 1: 191,907,224 (GRCm39) M92K possibly damaging Het
Kcnk1 A G 8: 126,751,819 (GRCm39) I142V probably damaging Het
Lsm11 T C 11: 45,828,191 (GRCm39) N196D probably damaging Het
Mpeg1 G T 19: 12,440,156 (GRCm39) C538F probably damaging Het
Nrap G A 19: 56,333,951 (GRCm39) Q969* probably null Het
Nt5el A T 13: 105,236,967 (GRCm39) S73C probably damaging Het
Nup205 T C 6: 35,204,511 (GRCm39) probably null Het
Pdcd5 A G 7: 35,342,110 (GRCm39) V166A possibly damaging Het
Ptprt T C 2: 162,120,027 (GRCm39) T147A probably benign Het
Rbp3 A T 14: 33,676,460 (GRCm39) D136V probably damaging Het
Ripor3 G T 2: 167,834,750 (GRCm39) T247N probably damaging Het
Sgcd A C 11: 46,870,082 (GRCm39) probably benign Het
Slc26a6 T C 9: 108,734,251 (GRCm39) Y211H probably benign Het
Slc37a3 T A 6: 39,314,129 (GRCm39) E494D probably benign Het
Smc5 T C 19: 23,234,856 (GRCm39) E326G probably benign Het
Tctn2 T C 5: 124,753,316 (GRCm39) noncoding transcript Het
Tk2 T A 8: 104,967,770 (GRCm39) N93I probably damaging Het
Tmed6 A G 8: 107,792,240 (GRCm39) F2L possibly damaging Het
Tox3 A G 8: 90,984,781 (GRCm39) probably benign Het
Tspan9 T C 6: 127,941,401 (GRCm39) Y237C probably benign Het
Ubqlnl A G 7: 103,797,856 (GRCm39) L547P probably damaging Het
Uggt1 T C 1: 36,189,223 (GRCm39) D1421G probably damaging Het
Unc80 T A 1: 66,542,703 (GRCm39) I319K possibly damaging Het
Vac14 A G 8: 111,380,260 (GRCm39) D441G probably benign Het
Vamp8 C T 6: 72,365,316 (GRCm39) V5M probably damaging Het
Yeats2 T A 16: 20,012,429 (GRCm39) H560Q probably benign Het
Zfp13 C T 17: 23,795,072 (GRCm39) A493T probably benign Het
Zfp773 G T 7: 7,139,655 (GRCm39) probably benign 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
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
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
Posted On 2015-04-16