Incidental Mutation 'IGL02158:Plcb2'
ID 282327
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 # IGL02158
Quality Score
Status
Chromosome 2
Chromosomal Location 118537998-118558919 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 118541844 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 922 (R922L)
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: R945L

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000099583
Gene: ENSMUSG00000040061
AA Change: R945L

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 benign
Transcript: ENSMUST00000159756
AA Change: R922L

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000124364
Gene: ENSMUSG00000040061
AA Change: R922L

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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A T 9: 57,163,902 (GRCm39) probably null Het
Abca2 A G 2: 25,337,891 (GRCm39) probably benign Het
Abcb11 A T 2: 69,130,269 (GRCm39) S262R probably damaging Het
Abhd12 T A 2: 150,690,341 (GRCm39) Q118L probably benign Het
Adam1a A T 5: 121,657,034 (GRCm39) L753* probably null Het
Ahctf1 A T 1: 179,607,217 (GRCm39) I699N possibly damaging Het
Arl11 C A 14: 61,548,487 (GRCm39) A99E probably damaging Het
Atp5po G A 16: 91,727,289 (GRCm39) R16W probably damaging Het
AW551984 T C 9: 39,510,621 (GRCm39) H238R probably null Het
Bpifb9a C A 2: 154,108,733 (GRCm39) probably benign Het
Carhsp1 A G 16: 8,481,577 (GRCm39) probably benign Het
Ccdc33 T C 9: 57,937,702 (GRCm39) D623G probably damaging Het
Chd6 C A 2: 160,868,212 (GRCm39) R378L possibly damaging Het
Chn2 T C 6: 54,277,230 (GRCm39) probably benign Het
Clgn T G 8: 84,149,765 (GRCm39) I422S probably damaging Het
Col15a1 T A 4: 47,300,606 (GRCm39) probably null Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cyp2c39 T C 19: 39,556,574 (GRCm39) I470T probably benign Het
Dcaf11 T A 14: 55,801,980 (GRCm39) probably null Het
Dnah1 G T 14: 31,022,924 (GRCm39) T1071K probably benign Het
Dnah2 T A 11: 69,348,949 (GRCm39) M2513L probably benign Het
Dqx1 A G 6: 83,035,891 (GRCm39) probably benign Het
Gm1587 T C 14: 78,036,282 (GRCm39) E8G unknown Het
Hydin T C 8: 111,336,598 (GRCm39) I5125T possibly damaging Het
Ighv5-9 G T 12: 113,625,563 (GRCm39) P60Q probably damaging Het
Itga7 T G 10: 128,789,651 (GRCm39) L993R possibly damaging Het
Itpr3 A G 17: 27,317,416 (GRCm39) N857S probably damaging Het
Krt23 C T 11: 99,383,490 (GRCm39) probably benign Het
Lrp1 T C 10: 127,390,140 (GRCm39) N3093S probably benign Het
Mms22l T C 4: 24,505,349 (GRCm39) F203S probably damaging Het
Morn5 A G 2: 35,947,088 (GRCm39) D122G probably damaging Het
Mpp2 G T 11: 101,954,088 (GRCm39) L220I probably benign Het
Mrgpra6 A T 7: 46,835,700 (GRCm39) Y240* probably null Het
Mtmr12 T C 15: 12,238,016 (GRCm39) I165T probably damaging Het
Mylk2 C A 2: 152,761,077 (GRCm39) N428K probably damaging Het
Nfil3 A G 13: 53,122,188 (GRCm39) Y239H probably damaging Het
Notch1 A G 2: 26,350,351 (GRCm39) L2263P probably damaging Het
Or2g7 T A 17: 38,378,158 (GRCm39) I32N probably damaging Het
Or8b101 A G 9: 38,020,425 (GRCm39) M148V probably benign Het
P3h3 A T 6: 124,830,055 (GRCm39) Y387N probably damaging Het
Pdcd6ip A T 9: 113,509,121 (GRCm39) Y324* probably null Het
Pml T C 9: 58,154,286 (GRCm39) T196A probably benign Het
Ppp2r1b C A 9: 50,772,909 (GRCm39) Q65K probably benign Het
Ric8a A G 7: 140,442,270 (GRCm39) T507A probably benign Het
Sec16a A G 2: 26,306,644 (GRCm39) probably null Het
Slc46a3 G T 5: 147,823,044 (GRCm39) T266N probably damaging Het
Smg1 A G 7: 117,812,169 (GRCm39) S41P possibly damaging Het
Snrnp200 T A 2: 127,079,403 (GRCm39) N1837K probably benign Het
Sptan1 A G 2: 29,920,336 (GRCm39) T2318A probably damaging Het
St7l C T 3: 104,782,148 (GRCm39) T175I possibly damaging Het
Tmc7 G A 7: 118,137,434 (GRCm39) R703C probably damaging Het
Urah A G 7: 140,416,799 (GRCm39) probably benign Het
Vmn1r42 A T 6: 89,822,296 (GRCm39) I91N probably damaging Het
Yy1 T A 12: 108,780,525 (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
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
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