Incidental Mutation 'IGL02691:Plcb2'
ID303736
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 #IGL02691
Quality Score
Status
Chromosome2
Chromosomal Location118707517-118728438 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 118710963 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 997 (K997R)
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: K1020R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000099583
Gene: ENSMUSG00000040061
AA Change: K1020R

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: K997R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000124364
Gene: ENSMUSG00000040061
AA Change: K997R

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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A3galt2 T C 4: 128,761,664 S40P probably benign Het
Actl9 G T 17: 33,433,118 V51L probably damaging Het
Adcy6 A T 15: 98,604,304 F143Y probably damaging Het
Agps A T 2: 75,891,860 I465F probably benign Het
Armc3 T A 2: 19,235,484 F17L probably damaging Het
Arsk A C 13: 76,074,950 M176R probably damaging Het
Asz1 G A 6: 18,076,557 T212I probably damaging Het
Atp6v1a A G 16: 44,111,619 I102T probably damaging Het
Bpifb6 T A 2: 153,902,645 L2Q unknown Het
Cad A G 5: 31,055,294 Y45C probably damaging Het
Ccdc93 A G 1: 121,486,613 D451G possibly damaging Het
Cenpj A G 14: 56,552,090 I834T probably benign Het
Cyp2j12 C T 4: 96,132,994 probably null Het
Dhx8 G A 11: 101,752,004 probably benign Het
Dync1i1 A G 6: 5,800,767 probably benign Het
Ell2 T A 13: 75,756,486 D99E probably damaging Het
Enpp1 G T 10: 24,711,892 P34T probably damaging Het
Fras1 T A 5: 96,744,705 V2888E possibly damaging Het
Gm10451 T C 12: 76,451,299 noncoding transcript Het
Gmfg A G 7: 28,444,870 Y40C probably damaging Het
Gnal T C 18: 67,222,675 I369T probably damaging Het
Gzmn T C 14: 56,166,913 T156A probably benign Het
H2-DMb2 A T 17: 34,147,858 H88L probably benign Het
Ighv7-3 T C 12: 114,153,396 T49A probably benign Het
Jakmip3 C T 7: 139,026,844 Q450* probably null Het
Klhl20 A T 1: 161,106,874 probably benign Het
Klk6 A G 7: 43,828,500 T99A probably benign Het
Lhx3 A G 2: 26,203,085 C118R probably damaging Het
Mapkbp1 T C 2: 119,973,174 probably benign Het
Naa15 A G 3: 51,451,326 E294G probably damaging Het
Nfia C T 4: 98,081,808 Q373* probably null Het
Notch2 C A 3: 98,135,607 Y1429* probably null Het
Oc90 A G 15: 65,882,561 S252P probably damaging Het
Olfr1084 T C 2: 86,638,838 Y290C probably damaging Het
Olfr681 A G 7: 105,122,131 I225V probably damaging Het
Pde3b T A 7: 114,508,085 probably benign Het
Pdss1 G A 2: 22,915,241 V211I probably benign Het
Phactr1 G T 13: 43,077,737 M226I probably benign Het
Phf11c A G 14: 59,384,787 S259P probably damaging Het
Phf20l1 A G 15: 66,604,864 N269S probably damaging Het
Piezo1 A G 8: 122,501,949 V229A possibly damaging Het
Ppm1m A T 9: 106,195,369 V449E probably damaging Het
Rbm12 C T 2: 156,095,560 probably benign Het
Rgs14 A G 13: 55,379,023 probably null Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Scamp5 G T 9: 57,451,377 R39S probably damaging Het
Slc5a6 C T 5: 31,042,174 V15I probably damaging Het
Snx25 A T 8: 46,105,265 V235E possibly damaging Het
Tdrd1 G T 19: 56,843,852 E400D probably damaging Het
Tln1 T C 4: 43,539,544 R1593G probably benign Het
Trdv2-2 T C 14: 53,961,582 F110L possibly damaging Het
Ush2a A C 1: 188,734,752 Y2871S probably damaging Het
Vars2 A C 17: 35,660,248 L592R probably damaging Het
Vipr2 T A 12: 116,136,229 C239S probably benign Het
Vmn1r200 A T 13: 22,395,258 D68V probably damaging Het
Vmn1r7 A T 6: 57,024,388 S296T probably benign Het
Vmn2r95 T C 17: 18,451,858 I619T 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
IGL02158:Plcb2 APN 2 118711363 missense probably benign 0.06
IGL02447:Plcb2 APN 2 118713155 missense probably damaging 1.00
IGL02490:Plcb2 APN 2 118719760 missense probably damaging 0.99
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
X0024:Plcb2 UTSW 2 118712375 missense probably benign 0.13
Posted On2015-04-16