Incidental Mutation 'IGL02158:Plcb2'
ID282327
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plcb2
Ensembl Gene ENSMUSG00000040061
Gene Namephospholipase C, beta 2
SynonymsB230205M18Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02158
Quality Score
Status
Chromosome2
Chromosomal Location118707517-118728438 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 118711363 bp
ZygosityHeterozygous
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]
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: 57,256,619 probably null Het
Abca2 A G 2: 25,447,879 probably benign Het
Abcb11 A T 2: 69,299,925 S262R probably damaging Het
Abhd12 T A 2: 150,848,421 Q118L probably benign Het
Adam1a A T 5: 121,518,971 L753* probably null Het
Ahctf1 A T 1: 179,779,652 I699N possibly damaging Het
Arl11 C A 14: 61,311,038 A99E probably damaging Het
Atp5o G A 16: 91,930,401 R16W probably damaging Het
AW551984 T C 9: 39,599,325 H238R probably null Het
Bpifb9a C A 2: 154,266,813 probably benign Het
Carhsp1 A G 16: 8,663,713 probably benign Het
Ccdc33 T C 9: 58,030,419 D623G probably damaging Het
Chd6 C A 2: 161,026,292 R378L possibly damaging Het
Chn2 T C 6: 54,300,245 probably benign Het
Clgn T G 8: 83,423,136 I422S probably damaging Het
Col15a1 T A 4: 47,300,606 probably null Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp2c39 T C 19: 39,568,130 I470T probably benign Het
Dcaf11 T A 14: 55,564,523 probably null Het
Dnah1 G T 14: 31,300,967 T1071K probably benign Het
Dnah2 T A 11: 69,458,123 M2513L probably benign Het
Dqx1 A G 6: 83,058,910 probably benign Het
Gm1587 T C 14: 77,798,842 E8G unknown Het
Hydin T C 8: 110,609,966 I5125T possibly damaging Het
Ighv5-9 G T 12: 113,661,943 P60Q probably damaging Het
Itga7 T G 10: 128,953,782 L993R possibly damaging Het
Itpr3 A G 17: 27,098,442 N857S probably damaging Het
Krt23 C T 11: 99,492,664 probably benign Het
Lrp1 T C 10: 127,554,271 N3093S probably benign Het
Mms22l T C 4: 24,505,349 F203S probably damaging Het
Morn5 A G 2: 36,057,076 D122G probably damaging Het
Mpp2 G T 11: 102,063,262 L220I probably benign Het
Mrgpra6 A T 7: 47,185,952 Y240* probably null Het
Mtmr12 T C 15: 12,237,930 I165T probably damaging Het
Mylk2 C A 2: 152,919,157 N428K probably damaging Het
Nfil3 A G 13: 52,968,152 Y239H probably damaging Het
Notch1 A G 2: 26,460,339 L2263P probably damaging Het
Olfr130 T A 17: 38,067,267 I32N probably damaging Het
Olfr888 A G 9: 38,109,129 M148V probably benign Het
P3h3 A T 6: 124,853,092 Y387N probably damaging Het
Pdcd6ip A T 9: 113,680,053 Y324* probably null Het
Pml T C 9: 58,247,003 T196A probably benign Het
Ppp2r1b C A 9: 50,861,609 Q65K probably benign Het
Ric8a A G 7: 140,862,357 T507A probably benign Het
Sec16a A G 2: 26,416,632 probably null Het
Slc46a3 G T 5: 147,886,234 T266N probably damaging Het
Smg1 A G 7: 118,212,946 S41P possibly damaging Het
Snrnp200 T A 2: 127,237,483 N1837K probably benign Het
Sptan1 A G 2: 30,030,324 T2318A probably damaging Het
St7l C T 3: 104,874,832 T175I possibly damaging Het
Tmc7 G A 7: 118,538,211 R703C probably damaging Het
Urah A G 7: 140,836,886 probably benign Het
Vmn1r42 A T 6: 89,845,314 I91N probably damaging Het
Yy1 T A 12: 108,814,599 probably benign Het
Other mutations in Plcb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00580:Plcb2 APN 2 118718889 missense probably damaging 1.00
IGL00715:Plcb2 APN 2 118713734 critical splice donor site probably null
IGL00851:Plcb2 APN 2 118728251 missense probably benign 0.30
IGL01765:Plcb2 APN 2 118710268 splice site probably benign
IGL01837:Plcb2 APN 2 118711926 splice site probably null
IGL01868:Plcb2 APN 2 118709590 missense probably damaging 1.00
IGL01868:Plcb2 APN 2 118711387 missense probably benign 0.09
IGL02447:Plcb2 APN 2 118713155 missense probably damaging 1.00
IGL02490:Plcb2 APN 2 118719760 missense probably damaging 0.99
IGL02691:Plcb2 APN 2 118710963 missense probably benign 0.00
IGL02723:Plcb2 APN 2 118717019 splice site probably benign
IGL02929:Plcb2 APN 2 118713234 splice site probably benign
IGL02949:Plcb2 APN 2 118719109 splice site probably null
PIT4480001:Plcb2 UTSW 2 118723496 missense probably benign 0.00
R0031:Plcb2 UTSW 2 118715461 missense probably benign 0.36
R0157:Plcb2 UTSW 2 118718541 missense probably damaging 0.98
R0366:Plcb2 UTSW 2 118724447 missense probably benign 0.01
R0376:Plcb2 UTSW 2 118717240 missense probably damaging 0.99
R0570:Plcb2 UTSW 2 118717325 missense probably benign 0.32
R0790:Plcb2 UTSW 2 118712483 splice site probably benign
R0893:Plcb2 UTSW 2 118725105 splice site probably benign
R1647:Plcb2 UTSW 2 118723780 missense possibly damaging 0.51
R1648:Plcb2 UTSW 2 118723780 missense possibly damaging 0.51
R1686:Plcb2 UTSW 2 118715687 splice site probably benign
R2210:Plcb2 UTSW 2 118717503 missense probably damaging 1.00
R2211:Plcb2 UTSW 2 118723534 missense probably benign 0.05
R2251:Plcb2 UTSW 2 118723765 missense probably benign 0.10
R2252:Plcb2 UTSW 2 118723765 missense probably benign 0.10
R2253:Plcb2 UTSW 2 118723765 missense probably benign 0.10
R2426:Plcb2 UTSW 2 118715649 missense probably damaging 1.00
R3970:Plcb2 UTSW 2 118715690 splice site probably benign
R4007:Plcb2 UTSW 2 118710793 missense probably damaging 1.00
R4162:Plcb2 UTSW 2 118709587 missense probably damaging 1.00
R4236:Plcb2 UTSW 2 118709566 missense probably damaging 1.00
R4422:Plcb2 UTSW 2 118712003 missense probably benign 0.28
R4772:Plcb2 UTSW 2 118713134 missense probably benign 0.20
R4795:Plcb2 UTSW 2 118711124 missense probably benign 0.32
R4935:Plcb2 UTSW 2 118718915 missense probably damaging 1.00
R5019:Plcb2 UTSW 2 118712136 missense probably benign 0.01
R5055:Plcb2 UTSW 2 118718222 missense probably benign 0.06
R5452:Plcb2 UTSW 2 118718246 missense probably damaging 0.98
R5622:Plcb2 UTSW 2 118714729 missense probably damaging 1.00
R5752:Plcb2 UTSW 2 118711051 intron probably benign
R6284:Plcb2 UTSW 2 118717301 missense probably benign 0.37
R6380:Plcb2 UTSW 2 118715468 missense probably damaging 1.00
R6574:Plcb2 UTSW 2 118719173 missense probably damaging 0.99
R6728:Plcb2 UTSW 2 118723690 missense probably damaging 1.00
R6792:Plcb2 UTSW 2 118719441 missense probably damaging 1.00
R7529:Plcb2 UTSW 2 118710234 missense probably damaging 1.00
R7560:Plcb2 UTSW 2 118715643 missense probably damaging 0.99
X0024:Plcb2 UTSW 2 118712375 missense probably benign 0.13
Posted On2015-04-16