Incidental Mutation 'IGL01868:Plcb2'
ID 178587
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 # IGL01868
Quality Score
Status
Chromosome 2
Chromosomal Location 118537998-118558919 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 118540071 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 1074 (L1074P)
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 damaging
Transcript: ENSMUST00000102524
AA Change: L1097P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099583
Gene: ENSMUSG00000040061
AA Change: L1097P

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 damaging
Transcript: ENSMUST00000159756
AA Change: L1074P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124364
Gene: ENSMUSG00000040061
AA Change: L1074P

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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 G A 18: 67,547,218 (GRCm39) T569M possibly damaging Het
Aldh1l1 A T 6: 90,560,212 (GRCm39) K620* probably null Het
Amdhd2 G T 17: 24,376,504 (GRCm39) T346K probably damaging Het
Arhgap44 T C 11: 64,902,904 (GRCm39) D521G probably damaging Het
Ccdc146 C A 5: 21,538,052 (GRCm39) A91S probably damaging Het
Ccdc187 C A 2: 26,170,960 (GRCm39) R506L probably benign Het
Cd37 T C 7: 44,885,603 (GRCm39) Q128R probably benign Het
Cdh22 T A 2: 164,999,278 (GRCm39) M185L probably damaging Het
Cib2 A T 9: 54,455,759 (GRCm39) N68K probably damaging Het
Ddx46 C T 13: 55,787,683 (GRCm39) R96* probably null Het
Dnajc13 A T 9: 104,039,944 (GRCm39) H2050Q possibly damaging Het
Drgx C A 14: 32,330,334 (GRCm39) F150L probably damaging Het
Duox1 A G 2: 122,168,888 (GRCm39) H1172R probably benign Het
Eftud2 C T 11: 102,759,953 (GRCm39) V132I probably benign Het
Fcrl5 G A 3: 87,351,014 (GRCm39) D87N possibly damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm5862 A C 5: 26,227,769 (GRCm39) W41G probably benign Het
Kat6a T C 8: 23,416,471 (GRCm39) F660L probably damaging Het
Lipo2 T C 19: 33,708,238 (GRCm39) M259V probably benign Het
Lrrcc1 T A 3: 14,619,417 (GRCm39) L90* probably null Het
Lsm1 G A 8: 26,283,821 (GRCm39) probably null Het
Luzp1 T C 4: 136,270,048 (GRCm39) I757T probably damaging Het
Micall1 A G 15: 78,999,260 (GRCm39) I76V probably benign Het
Mmp21 A T 7: 133,277,643 (GRCm39) D394E probably damaging Het
Mtfr1l T C 4: 134,258,018 (GRCm39) D68G probably null Het
Necab2 A G 8: 120,189,315 (GRCm39) S162G probably benign Het
Or11a4 A T 17: 37,536,043 (GRCm39) Q9L probably benign Het
Or4c100 T C 2: 88,356,059 (GRCm39) V44A possibly damaging Het
Or51b17 G A 7: 103,542,583 (GRCm39) R120* probably null Het
Or6n1 C T 1: 173,916,936 (GRCm39) T110I possibly damaging Het
Pde7b A T 10: 20,282,911 (GRCm39) C376* probably null Het
Pira12 G A 7: 3,900,174 (GRCm39) Q143* probably null Het
Prph C A 15: 98,954,224 (GRCm39) D207E probably damaging Het
Rbp4 C A 19: 38,112,968 (GRCm39) R37L probably damaging Het
Ryr3 T C 2: 112,633,503 (GRCm39) probably benign Het
Sardh T G 2: 27,117,159 (GRCm39) Q496P probably benign Het
Serpina1f T A 12: 103,659,704 (GRCm39) N193Y probably benign Het
Slc10a7 G A 8: 79,423,965 (GRCm39) probably null Het
Spg7 T C 8: 123,816,975 (GRCm39) probably null Het
Sphkap T C 1: 83,258,120 (GRCm39) probably null Het
Tas2r121 T A 6: 132,677,235 (GRCm39) I246L probably benign Het
Tbc1d9b T C 11: 50,052,460 (GRCm39) F889S probably damaging Het
Tcp10a T C 17: 7,597,263 (GRCm39) M140T possibly damaging Het
Tctn2 G A 5: 124,754,591 (GRCm39) noncoding transcript Het
Tfap2b G T 1: 19,284,506 (GRCm39) R138L probably damaging Het
Tnrc18 T C 5: 142,757,567 (GRCm39) T985A unknown Het
Treml1 G A 17: 48,673,035 (GRCm39) V211I probably benign Het
Ubr4 C T 4: 139,139,989 (GRCm39) Q1191* probably null Het
Vim G A 2: 13,583,249 (GRCm39) R217H possibly damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r77 A G 7: 86,452,224 (GRCm39) D468G probably benign Het
Vmn2r98 G T 17: 19,286,548 (GRCm39) V349F probably benign Het
Vwa7 A T 17: 35,240,235 (GRCm39) E401V probably null Het
Zfp119b C A 17: 56,246,866 (GRCm39) V75L possibly damaging Het
Zfp287 C T 11: 62,606,083 (GRCm39) E275K 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
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
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 2014-05-07