Incidental Mutation 'R3970:Plcb2'
ID 310909
Institutional Source Beutler Lab
Gene Symbol Plcb2
Ensembl Gene ENSMUSG00000040061
Gene Name phospholipase C, beta 2
Synonyms B230205M18Rik
MMRRC Submission 040938-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3970 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 118537998-118558919 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 118546171 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000099583
Gene: ENSMUSG00000040061

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 noncoding transcript
Transcript: ENSMUST00000129153
Predicted Effect probably benign
Transcript: ENSMUST00000159756
SMART Domains Protein: ENSMUSP00000124364
Gene: ENSMUSG00000040061

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency 96% (53/55)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik T C 4: 148,029,779 (GRCm39) M583T probably damaging Het
Actn4 T C 7: 28,661,457 (GRCm39) K51R probably benign Het
Adamts15 T C 9: 30,821,898 (GRCm39) Y513C probably benign Het
Akap13 T A 7: 75,219,699 (GRCm39) L34* probably null Het
Akap6 A T 12: 53,188,236 (GRCm39) K1883N probably damaging Het
Ano1 T C 7: 144,161,700 (GRCm39) N749D probably benign Het
Armcx6 G T X: 133,650,505 (GRCm39) H109N possibly damaging Het
Camk4 T A 18: 33,312,634 (GRCm39) I258N possibly damaging Het
Cdhr2 A T 13: 54,874,271 (GRCm39) N781I probably damaging Het
Cherp T C 8: 73,223,795 (GRCm39) H196R possibly damaging Het
Chia1 T G 3: 106,028,951 (GRCm39) probably null Het
Col11a1 A T 3: 113,890,838 (GRCm39) T392S unknown Het
Commd9 C A 2: 101,727,486 (GRCm39) N93K probably benign Het
Csf2rb T C 15: 78,225,667 (GRCm39) V286A probably benign Het
Dnah17 G A 11: 117,931,984 (GRCm39) probably benign Het
E2f1 C G 2: 154,405,942 (GRCm39) G144R probably damaging Het
Fcho2 A T 13: 98,871,564 (GRCm39) S551T probably benign Het
Flna A T X: 73,279,273 (GRCm39) V1253E probably damaging Het
Gm12185 A T 11: 48,798,172 (GRCm39) C774S probably benign Het
Gm14401 T C 2: 176,778,789 (GRCm39) Y292H possibly damaging Het
Insyn2b A T 11: 34,369,739 (GRCm39) Q481L probably damaging Het
Kif5c A G 2: 49,578,756 (GRCm39) E128G probably damaging Het
Lama3 A T 18: 12,713,398 (GRCm39) K3230M probably damaging Het
Myof C T 19: 37,889,711 (GRCm39) V1287M probably damaging Het
Myof T G 19: 38,011,058 (GRCm39) D60A possibly damaging Het
Myrf A G 19: 10,200,601 (GRCm39) L332P probably damaging Het
Nampt T A 12: 32,883,095 (GRCm39) D93E probably benign Het
Narf A T 11: 121,129,247 (GRCm39) E10D possibly damaging Het
Nlrp6 C A 7: 140,501,568 (GRCm39) A45E probably damaging Het
Obscn G A 11: 58,942,488 (GRCm39) P4898L probably damaging Het
Or8c11 T C 9: 38,289,222 (GRCm39) V15A probably damaging Het
Pabpc5 A G X: 118,838,321 (GRCm39) E212G probably benign Het
Pcdh8 C T 14: 80,007,706 (GRCm39) G286S possibly damaging Het
Pcdha2 C A 18: 37,073,750 (GRCm39) Y460* probably null Het
Pcdhga4 G T 18: 37,820,654 (GRCm39) L734F possibly damaging Het
Pecr G A 1: 72,315,468 (GRCm39) T94I probably damaging Het
Piezo2 A T 18: 63,144,767 (GRCm39) V2776E probably damaging Het
Pign A C 1: 105,583,728 (GRCm39) S125A probably damaging Het
Pik3r2 G A 8: 71,223,065 (GRCm39) R452C probably benign Het
Pkd1l1 C T 11: 8,824,218 (GRCm39) E1566K probably damaging Het
Ppl T C 16: 4,918,196 (GRCm39) probably null Het
Pramel4 A T 4: 143,795,044 (GRCm39) N477I possibly damaging Het
Psd C T 19: 46,312,845 (GRCm39) R175H probably benign Het
Sema3g T C 14: 30,948,478 (GRCm39) probably null Het
Sf3b1 G A 1: 55,051,341 (GRCm39) R196* probably null Het
Slc26a4 G T 12: 31,578,686 (GRCm39) H656N probably damaging Het
Slc6a7 A C 18: 61,136,417 (GRCm39) L328R possibly damaging Het
Stab2 T C 10: 86,714,750 (GRCm39) T139A probably damaging Het
Tiam2 T A 17: 3,479,106 (GRCm39) I613N probably damaging Het
Tlk1 A G 2: 70,546,996 (GRCm39) V695A probably damaging Het
Trpc2 A G 7: 101,733,531 (GRCm39) D160G probably damaging Het
Uhrf2 T C 19: 30,057,315 (GRCm39) V491A probably damaging Het
Vwa7 G A 17: 35,236,684 (GRCm39) A84T probably damaging Het
Zfp219 T A 14: 52,244,421 (GRCm39) Q541L 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
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
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'- AGCTGTCGCTGAGTATAGGAGC -3'
(R):5'- TGCATGTCCACAGTGATGTCC -3'

Sequencing Primer
(F):5'- GCTGAGTATAGGAGCTGGCC -3'
(R):5'- ACAGTGATGTCCCTTTACCCCAG -3'
Posted On 2015-04-29