Incidental Mutation 'R0376:Plcb2'
ID 30731
Institutional Source Beutler Lab
Gene Symbol Plcb2
Ensembl Gene ENSMUSG00000040061
Gene Name phospholipase C, beta 2
Synonyms B230205M18Rik
MMRRC Submission 038582-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0376 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 118537998-118558919 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 118547721 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 502 (E502G)
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: E525G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099583
Gene: ENSMUSG00000040061
AA Change: E525G

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 damaging
Transcript: ENSMUST00000159756
AA Change: E502G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124364
Gene: ENSMUSG00000040061
AA Change: E502G

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 0.0935 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 90.0%
Validation Efficiency 100% (58/58)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6a T C 12: 113,508,310 (GRCm39) Y228H probably damaging Het
Als2 A G 1: 59,254,724 (GRCm39) F211S probably benign Het
Ankrd12 T A 17: 66,360,004 (GRCm39) Q11L probably damaging Het
Anxa5 T C 3: 36,514,637 (GRCm39) R115G probably damaging Het
Arhgap10 T C 8: 78,177,453 (GRCm39) probably benign Het
Atp2a3 T A 11: 72,873,528 (GRCm39) D782E probably damaging Het
Bcr G T 10: 74,981,159 (GRCm39) L659F probably damaging Het
Cacna1b A G 2: 24,549,015 (GRCm39) probably benign Het
Camp C T 9: 109,677,467 (GRCm39) C122Y probably damaging Het
Cimip1 G A 2: 173,370,120 (GRCm39) E132K probably benign Het
Col12a1 A T 9: 79,600,776 (GRCm39) S769R probably benign Het
Cyp2j6 T A 4: 96,414,260 (GRCm39) K335I probably damaging Het
Cyp3a11 A C 5: 145,799,262 (GRCm39) Y308* probably null Het
Flnb G A 14: 7,946,014 (GRCm38) probably null Het
Frmd4a G T 2: 4,577,198 (GRCm39) M351I probably damaging Het
Gabrg2 C T 11: 41,807,142 (GRCm39) S365N possibly damaging Het
Ggn T C 7: 28,872,447 (GRCm39) V609A possibly damaging Het
H60c T C 10: 3,210,435 (GRCm39) probably benign Het
Hexd T A 11: 121,108,991 (GRCm39) probably benign Het
Igsf9b A G 9: 27,245,878 (GRCm39) T1282A probably benign Het
Ikzf4 T C 10: 128,468,625 (GRCm39) N618S probably benign Het
Ints14 A G 9: 64,891,272 (GRCm39) K418E probably damaging Het
Iqgap1 T C 7: 80,373,627 (GRCm39) E1454G probably benign Het
Kif13b T C 14: 64,994,853 (GRCm39) probably benign Het
Krt71 A C 15: 101,646,505 (GRCm39) F328C probably damaging Het
Lama2 T C 10: 26,891,542 (GRCm39) T2524A possibly damaging Het
Mfn2 C T 4: 147,969,983 (GRCm39) V363I probably benign Het
Mkln1 A T 6: 31,454,953 (GRCm39) D496V probably benign Het
Or2q1 A T 6: 42,795,226 (GRCm39) M274L probably benign Het
Patj T A 4: 98,457,224 (GRCm39) I1242N probably damaging Het
Pcnx1 C T 12: 82,021,353 (GRCm39) probably benign Het
Plppr4 G T 3: 117,116,740 (GRCm39) H314Q probably benign Het
Prkcsh A G 9: 21,921,547 (GRCm39) probably benign Het
Prr14 C T 7: 127,075,815 (GRCm39) H181Y probably benign Het
Pus3 A T 9: 35,477,718 (GRCm39) M317L possibly damaging Het
Pwwp2a T A 11: 43,595,499 (GRCm39) D221E probably benign Het
Rbm15 T C 3: 107,238,254 (GRCm39) S715G probably benign Het
Rbm28 A G 6: 29,158,927 (GRCm39) probably benign Het
Rhobtb2 A T 14: 70,034,184 (GRCm39) V347E probably benign Het
Rimbp2 C T 5: 128,880,925 (GRCm39) R161Q probably damaging Het
Scgb1b27 C T 7: 33,721,322 (GRCm39) T70I possibly damaging Het
Slc40a1 T C 1: 45,951,651 (GRCm39) probably benign Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Spaca9 A G 2: 28,583,672 (GRCm39) V104A probably benign Het
Spag7 T C 11: 70,560,016 (GRCm39) probably benign Het
Sugp1 A G 8: 70,505,288 (GRCm39) D85G probably damaging Het
Sun1 A G 5: 139,212,454 (GRCm39) probably benign Het
Tcp11l1 C A 2: 104,527,850 (GRCm39) probably benign Het
Tead3 A C 17: 28,560,339 (GRCm39) D88E probably damaging Het
Tecpr1 A T 5: 144,144,294 (GRCm39) V636E possibly damaging Het
Tldc2 T C 2: 156,937,225 (GRCm39) W147R probably damaging Het
Tmem161b A G 13: 84,440,502 (GRCm39) T125A probably benign Het
Trrap A G 5: 144,753,149 (GRCm39) M1825V probably benign Het
Ttbk2 A G 2: 120,608,062 (GRCm39) F186L probably damaging Het
U2surp C T 9: 95,366,496 (GRCm39) V470I probably benign Het
Zc3h7a T C 16: 10,974,066 (GRCm39) M240V probably benign Het
Zc3hc1 G C 6: 30,372,789 (GRCm39) S351W probably damaging Het
Zfp366 T C 13: 99,370,759 (GRCm39) M493T probably benign Het
Zfp93 C T 7: 23,975,286 (GRCm39) P424S 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
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
Predicted Primers PCR Primer
(F):5'- AAGCCCTTTGCCTGACTCCTAAGC -3'
(R):5'- ACCAGTTTTCTGGGCCAGCATC -3'

Sequencing Primer
(F):5'- TACTAGCGTACATACGTGCAG -3'
(R):5'- CCGTCTAGTGTCCCTGTAGAAG -3'
Posted On 2013-04-24