Incidental Mutation 'R9072:Plcb2'
ID 700786
Institutional Source Beutler Lab
Gene Symbol Plcb2
Ensembl Gene ENSMUSG00000040061
Gene Name phospholipase C, beta 2
Synonyms B230205M18Rik
MMRRC Submission 068894-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9072 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 118537998-118558919 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 118547878 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 472 (T472M)
Ref Sequence ENSEMBL: ENSMUSP00000124364 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102524] [ENSMUST00000159756]
AlphaFold A3KGF7
Predicted Effect possibly damaging
Transcript: ENSMUST00000102524
AA Change: T495M

PolyPhen 2 Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000099583
Gene: ENSMUSG00000040061
AA Change: T495M

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 possibly damaging
Transcript: ENSMUST00000159756
AA Change: T472M

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000124364
Gene: ENSMUSG00000040061
AA Change: T472M

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 0.1712 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (63/63)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A C 11: 9,240,834 (GRCm39) E899A possibly damaging Het
Best2 T A 8: 85,737,418 (GRCm39) I230F probably damaging Het
C2cd2 T C 16: 97,676,403 (GRCm39) E448G probably damaging Het
C2cd3 T G 7: 100,040,291 (GRCm39) S287A probably benign Het
Camta2 G A 11: 70,567,234 (GRCm39) P677S probably benign Het
Cand2 C T 6: 115,769,490 (GRCm39) R767C probably damaging Het
Celsr3 G A 9: 108,704,293 (GRCm39) E259K probably benign Het
Cep250 C G 2: 155,834,035 (GRCm39) Q1987E probably benign Het
Chn1 T C 2: 73,443,430 (GRCm39) D440G probably benign Het
Cmbl A T 15: 31,585,449 (GRCm39) D111V possibly damaging Het
Col5a3 T A 9: 20,682,453 (GRCm39) I1664F unknown Het
Cp T C 3: 20,033,158 (GRCm39) S662P possibly damaging Het
Cpne5 G A 17: 29,430,677 (GRCm39) R78C probably damaging Het
Cst5 A G 2: 149,249,261 (GRCm39) T104A probably benign Het
Cyp11b2 A G 15: 74,725,662 (GRCm39) F195S possibly damaging Het
Dcaf17 T C 2: 70,920,136 (GRCm39) Y475H probably benign Het
Edem2 G C 2: 155,571,212 (GRCm39) L16V unknown Het
Eeig1 A G 2: 32,455,674 (GRCm39) S267G probably benign Het
Ext2 A G 2: 93,644,144 (GRCm39) W46R probably benign Het
Gal3st3 T A 19: 5,352,605 (GRCm39) S11T probably benign Het
Garin5b A T 7: 4,762,253 (GRCm39) H265Q Het
Gfi1 T A 5: 107,865,725 (GRCm39) I451F possibly damaging Het
Gfpt2 T C 11: 49,714,185 (GRCm39) L314P probably damaging Het
Gm3250 A T 10: 77,618,127 (GRCm39) C84S unknown Het
Hmcn1 A T 1: 150,565,320 (GRCm39) V2269E probably benign Het
Ighv1-55 T C 12: 115,172,013 (GRCm39) H18R probably benign Het
Iqgap3 G A 3: 87,998,883 (GRCm39) G328E probably benign Het
Klf6 G T 13: 5,917,233 (GRCm39) C303F probably benign Het
Klhl35 A T 7: 99,122,129 (GRCm39) S77C probably damaging Het
Ktn1 T G 14: 47,941,694 (GRCm39) V822G probably benign Het
Lbhd2 G T 12: 111,375,040 (GRCm39) G21W probably damaging Het
Lrp1b G A 2: 40,615,457 (GRCm39) R3649* probably null Het
Map2 C A 1: 66,453,312 (GRCm39) T734N probably damaging Het
Mas1 A G 17: 13,060,839 (GRCm39) F195L possibly damaging Het
Med1 A T 11: 98,080,009 (GRCm39) M44K possibly damaging Het
Morc3 T C 16: 93,667,482 (GRCm39) V620A probably benign Het
Naip2 T C 13: 100,291,468 (GRCm39) S1157G probably benign Het
Naip2 C T 13: 100,291,459 (GRCm39) D1160N probably benign Het
Nucb2 T A 7: 116,125,631 (GRCm39) I159N probably damaging Het
Olfm5 A G 7: 103,802,984 (GRCm39) L493P probably benign Het
Or1e1 T G 11: 73,244,797 (GRCm39) F73V probably damaging Het
Or2ag15 A T 7: 106,340,759 (GRCm39) C127* probably null Het
Or56b1 C T 7: 104,285,291 (GRCm39) R137C probably benign Het
Pcdhb22 T A 18: 37,651,813 (GRCm39) C94S probably damaging Het
Pcdhga5 A G 18: 37,829,537 (GRCm39) I662V probably benign Het
Plcb4 A G 2: 135,849,795 (GRCm39) E1142G possibly damaging Het
Pmm1 C T 15: 81,839,896 (GRCm39) R143H probably damaging Het
Polr2l T C 7: 141,053,285 (GRCm39) Y43C probably damaging Het
Prkcb T A 7: 122,127,771 (GRCm39) N298K probably benign Het
Ptar1 T A 19: 23,695,414 (GRCm39) C294S probably benign Het
Ptprq T C 10: 107,401,736 (GRCm39) I1919V Het
Slc25a18 C T 6: 120,769,022 (GRCm39) R180C probably benign Het
Slc27a3 A C 3: 90,295,768 (GRCm39) S285R probably damaging Het
Smg1 C T 7: 117,783,032 (GRCm39) V1092I unknown Het
Spata19 T G 9: 27,309,024 (GRCm39) I54R possibly damaging Het
St6galnac5 T C 3: 152,551,956 (GRCm39) T204A probably benign Het
Tdpoz8 T A 3: 92,981,341 (GRCm39) C46S probably benign Het
Trpc3 T C 3: 36,694,831 (GRCm39) I708V probably benign Het
Ttn T C 2: 76,775,183 (GRCm39) E1999G unknown Het
Ube3b C T 5: 114,542,607 (GRCm39) T488M probably damaging Het
Vmn1r235 A T 17: 21,482,271 (GRCm39) I199F probably benign Het
Vsig8 A T 1: 172,388,340 (GRCm39) N215Y possibly damaging Het
Wapl A G 14: 34,399,417 (GRCm39) K162R possibly damaging Het
Wdpcp A G 11: 21,614,014 (GRCm39) T60A probably benign Het
Wdr26 A T 1: 181,010,351 (GRCm39) I566N probably damaging Het
Wdr46 C T 17: 34,163,555 (GRCm39) T371M probably benign Het
Zdbf2 T C 1: 63,344,923 (GRCm39) S1101P 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
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
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'- TCATAAGCTGTCACCTCCAGG -3'
(R):5'- GTCTACAGCTGAAACCTGGC -3'

Sequencing Primer
(F):5'- TGCTGTGCCCTAGAGGACAAG -3'
(R):5'- GAAACCTGGCATCCCTCTG -3'
Posted On 2022-02-07