Incidental Mutation 'R7072:Plcg2'
ID 568448
Institutional Source Beutler Lab
Gene Symbol Plcg2
Ensembl Gene ENSMUSG00000034330
Gene Name phospholipase C, gamma 2
Synonyms Plcg-2, PLCgamma2
MMRRC Submission 045168-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7072 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 118225030-118361881 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 118316574 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000079991 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081232]
AlphaFold Q8CIH5
PDB Structure Crystal structure of the N-terminal SH2 domain of mouse phospholipase C-gamma 2 [X-RAY DIFFRACTION]
Solution structure of the SH3 domain from Phospholipase C, gamma 2 [SOLUTION NMR]
Predicted Effect probably null
Transcript: ENSMUST00000081232
SMART Domains Protein: ENSMUSP00000079991
Gene: ENSMUSG00000034330

DomainStartEndE-ValueType
PH 21 133 1.87e-4 SMART
PLCXc 312 456 2.29e-96 SMART
low complexity region 461 476 N/A INTRINSIC
PDB:2K2J|A 478 516 6e-17 PDB
SH2 530 623 2.24e-30 SMART
SH2 644 726 1.16e-28 SMART
SH3 772 828 3.12e-18 SMART
PH 789 910 4.31e0 SMART
PLCYc 930 1044 1.18e-66 SMART
C2 1062 1167 1.41e-15 SMART
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (73/73)
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 transmembrane signaling enzyme that catalyzes the conversion of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate to 1D-myo-inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) using calcium as a cofactor. IP3 and DAG are second messenger molecules important for transmitting signals from growth factor receptors and immune system receptors across the cell membrane. Mutations in this gene have been found in autoinflammation, antibody deficiency, and immune dysregulation syndrome and familial cold autoinflammatory syndrome 3. [provided by RefSeq, Mar 2014]
PHENOTYPE: Homozygotes for some null alleles show decreased B cell and impaired NK cell function. Other homozygous null alleles show aberrant separation of blood and lymphatic vessels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,967,592 (GRCm39) L2214Q probably damaging Het
Acbd3 T C 1: 180,553,934 (GRCm39) F90L probably benign Het
Ahnak2 T A 12: 112,751,786 (GRCm39) Q23L Het
Anpep A T 7: 79,485,127 (GRCm39) L620I possibly damaging Het
Bpi T C 2: 158,113,998 (GRCm39) S299P probably damaging Het
Bpifa2 A G 2: 153,853,293 (GRCm39) D132G probably damaging Het
Brd7 T A 8: 89,073,615 (GRCm39) E258D probably benign Het
Btc T C 5: 91,550,796 (GRCm39) probably benign Het
Cacna1c A G 6: 118,573,067 (GRCm39) V2039A Het
Calm4 T A 13: 3,888,275 (GRCm39) V127E probably benign Het
Casp8ap2 T A 4: 32,644,766 (GRCm39) S1280T probably damaging Het
Cc2d2b T C 19: 40,748,803 (GRCm39) V80A unknown Het
Ccdc33 A G 9: 58,019,267 (GRCm39) *279R probably null Het
Cercam T A 2: 29,771,936 (GRCm39) H585Q probably benign Het
Cnnm1 A G 19: 43,429,296 (GRCm39) D138G probably benign Het
Cox4i2 T C 2: 152,602,573 (GRCm39) F89S probably damaging Het
Crb1 G A 1: 139,165,013 (GRCm39) T1098I probably damaging Het
Csnk1e C T 15: 79,322,967 (GRCm39) probably null Het
Ctsj C A 13: 61,150,897 (GRCm39) E187* probably null Het
Dagla A T 19: 10,233,659 (GRCm39) probably null Het
Dnah7a G A 1: 53,458,912 (GRCm39) T3742I probably benign Het
Dnajc6 A C 4: 101,472,812 (GRCm39) H381P probably damaging Het
Dyrk3 A T 1: 131,057,465 (GRCm39) L236Q probably damaging Het
Edc4 T A 8: 106,614,634 (GRCm39) D105E probably damaging Het
Frmd5 A T 2: 121,388,351 (GRCm39) L241Q probably damaging Het
Gcc2 A G 10: 58,106,749 (GRCm39) T662A probably benign Het
Gins1 C T 2: 150,751,671 (GRCm39) probably null Het
Gli3 T A 13: 15,900,280 (GRCm39) N1222K possibly damaging Het
Gm4302 G T 10: 100,177,521 (GRCm39) Q268H unknown Het
Grin2d A T 7: 45,506,922 (GRCm39) W518R probably damaging Het
Grm5 A T 7: 87,723,512 (GRCm39) I601F probably damaging Het
Gtpbp10 A T 5: 5,596,365 (GRCm39) N193K probably benign Het
Igdcc4 T G 9: 65,038,013 (GRCm39) V798G probably damaging Het
Igkv8-19 A T 6: 70,318,396 (GRCm39) F13I probably benign Het
Kctd11 T A 11: 69,770,621 (GRCm39) N139I probably benign Het
Lmo7 G A 14: 102,136,136 (GRCm39) probably null Het
Lrrk2 A T 15: 91,686,123 (GRCm39) M2155L probably benign Het
Ly6g6g C T 15: 74,644,119 (GRCm39) V66M Het
Mettl24 A C 10: 40,559,509 (GRCm39) H53P probably benign Het
Mier2 A G 10: 79,376,133 (GRCm39) M264T unknown Het
Mplkip T C 13: 17,870,122 (GRCm39) I18T unknown Het
Mtmr2 T C 9: 13,699,916 (GRCm39) V101A probably benign Het
Nbeal2 G T 9: 110,455,119 (GRCm39) T2593K probably benign Het
Neu3 A T 7: 99,463,404 (GRCm39) C106* probably null Het
Nutm1 T C 2: 112,082,192 (GRCm39) T295A probably benign Het
Or2h2b-ps1 A G 17: 37,481,269 (GRCm39) I90T probably benign Het
Pcdhga7 G T 18: 37,850,329 (GRCm39) V779L probably benign Het
Pde10a A G 17: 9,161,858 (GRCm39) E231G probably benign Het
Pira1 C G 7: 3,740,319 (GRCm39) A301P probably damaging Het
Pofut2 T C 10: 77,095,263 (GRCm39) L36P probably benign Het
Pou6f2 T C 13: 18,299,754 (GRCm39) N635S Het
Pramel14 A C 4: 143,720,698 (GRCm39) I81R probably damaging Het
Ptpra T C 2: 130,395,350 (GRCm39) Y818H probably damaging Het
Rad18 T C 6: 112,658,401 (GRCm39) E168G probably benign Het
Rev1 C A 1: 38,106,626 (GRCm39) E634* probably null Het
Sec24d A G 3: 123,124,000 (GRCm39) D403G probably damaging Het
Sema5a C A 15: 32,575,105 (GRCm39) H404Q possibly damaging Het
Shank1 A G 7: 43,994,370 (GRCm39) S844G unknown Het
Slc32a1 T A 2: 158,453,416 (GRCm39) Y85* probably null Het
Slc39a4 T C 15: 76,497,458 (GRCm39) T485A probably damaging Het
Sp5 A C 2: 70,307,074 (GRCm39) Q253P probably benign Het
Sspo A T 6: 48,431,913 (GRCm39) D709V probably damaging Het
Sucnr1 A G 3: 59,993,604 (GRCm39) Y44C probably damaging Het
Taar8b A G 10: 23,967,876 (GRCm39) L106P possibly damaging Het
Tbc1d9 A G 8: 83,991,494 (GRCm39) D922G probably damaging Het
Tbx6 A T 7: 126,383,912 (GRCm39) D322V probably benign Het
Tex15 T A 8: 34,065,459 (GRCm39) S1630T possibly damaging Het
Ube2o G A 11: 116,432,327 (GRCm39) P880S probably benign Het
Uck1 C T 2: 32,148,178 (GRCm39) R182Q probably damaging Het
Utrn T A 10: 12,340,957 (GRCm39) H2840L probably damaging Het
Vps8 A G 16: 21,400,329 (GRCm39) T1266A probably benign Het
Wnk1 A T 6: 119,914,822 (GRCm39) I1909N unknown Het
Zfp352 C T 4: 90,112,661 (GRCm39) T267I probably benign Het
Zfp773 A T 7: 7,135,874 (GRCm39) C241S probably benign Het
Zfp934 T C 13: 62,668,339 (GRCm39) D8G probably damaging Het
Other mutations in Plcg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00594:Plcg2 APN 8 118,282,810 (GRCm39) missense possibly damaging 0.89
IGL00911:Plcg2 APN 8 118,313,254 (GRCm39) missense probably benign 0.17
IGL00952:Plcg2 APN 8 118,333,956 (GRCm39) missense probably benign
IGL01115:Plcg2 APN 8 118,284,068 (GRCm39) missense probably damaging 1.00
IGL01326:Plcg2 APN 8 118,300,738 (GRCm39) splice site probably benign
IGL01357:Plcg2 APN 8 118,340,900 (GRCm39) splice site probably benign
IGL01705:Plcg2 APN 8 118,308,401 (GRCm39) missense probably damaging 1.00
IGL01755:Plcg2 APN 8 118,347,980 (GRCm39) missense possibly damaging 0.48
IGL01828:Plcg2 APN 8 118,316,972 (GRCm39) missense probably damaging 1.00
IGL02307:Plcg2 APN 8 118,306,635 (GRCm39) critical splice donor site probably null
IGL02345:Plcg2 APN 8 118,311,919 (GRCm39) missense probably damaging 0.99
IGL02448:Plcg2 APN 8 118,333,960 (GRCm39) missense probably benign
IGL02587:Plcg2 APN 8 118,284,852 (GRCm39) missense possibly damaging 0.80
IGL02646:Plcg2 APN 8 118,330,622 (GRCm39) missense possibly damaging 0.88
IGL03409:Plcg2 APN 8 118,310,234 (GRCm39) missense probably damaging 0.96
Ctenophore UTSW 8 118,284,057 (GRCm39) missense probably damaging 0.98
Porifera UTSW 8 118,306,585 (GRCm39) missense possibly damaging 0.79
Poseidon UTSW 8 118,341,977 (GRCm39) missense probably damaging 1.00
Poseidon2 UTSW 8 118,304,613 (GRCm39) missense possibly damaging 0.80
queen UTSW 8 118,308,446 (GRCm39) missense probably benign 0.00
Seahorse UTSW 8 118,316,574 (GRCm39) splice site probably null
Teleost UTSW 8 118,310,288 (GRCm39) missense probably damaging 1.00
Theseus UTSW 8 118,323,071 (GRCm39) missense probably damaging 0.99
trident UTSW 8 118,339,717 (GRCm39) missense probably benign 0.00
R0172:Plcg2 UTSW 8 118,306,521 (GRCm39) missense probably benign 0.00
R0194:Plcg2 UTSW 8 118,300,136 (GRCm39) splice site probably benign
R0410:Plcg2 UTSW 8 118,342,112 (GRCm39) missense probably damaging 0.98
R0462:Plcg2 UTSW 8 118,312,044 (GRCm39) missense probably benign 0.06
R0494:Plcg2 UTSW 8 118,282,843 (GRCm39) missense probably damaging 1.00
R0522:Plcg2 UTSW 8 118,341,027 (GRCm39) splice site probably null
R0612:Plcg2 UTSW 8 118,300,104 (GRCm39) missense probably benign 0.01
R1239:Plcg2 UTSW 8 118,282,783 (GRCm39) missense probably benign
R1367:Plcg2 UTSW 8 118,341,977 (GRCm39) missense probably damaging 1.00
R1608:Plcg2 UTSW 8 118,340,974 (GRCm39) missense possibly damaging 0.89
R1756:Plcg2 UTSW 8 118,319,447 (GRCm39) missense probably benign 0.02
R2176:Plcg2 UTSW 8 118,339,733 (GRCm39) missense probably damaging 1.00
R3500:Plcg2 UTSW 8 118,339,717 (GRCm39) missense probably benign 0.00
R4043:Plcg2 UTSW 8 118,339,717 (GRCm39) missense probably benign 0.00
R4654:Plcg2 UTSW 8 118,231,054 (GRCm39) missense probably benign
R4883:Plcg2 UTSW 8 118,333,872 (GRCm39) nonsense probably null
R4932:Plcg2 UTSW 8 118,333,822 (GRCm39) missense probably benign 0.05
R5080:Plcg2 UTSW 8 118,316,742 (GRCm39) missense probably benign 0.10
R5226:Plcg2 UTSW 8 118,304,613 (GRCm39) missense possibly damaging 0.80
R5264:Plcg2 UTSW 8 118,361,532 (GRCm39) missense possibly damaging 0.95
R5298:Plcg2 UTSW 8 118,331,988 (GRCm39) missense probably benign
R5473:Plcg2 UTSW 8 118,361,140 (GRCm39) missense probably benign
R5555:Plcg2 UTSW 8 118,339,734 (GRCm39) nonsense probably null
R5557:Plcg2 UTSW 8 118,313,296 (GRCm39) missense probably damaging 0.99
R5805:Plcg2 UTSW 8 118,325,234 (GRCm39) critical splice donor site probably null
R5826:Plcg2 UTSW 8 118,337,583 (GRCm39) missense probably benign 0.19
R5871:Plcg2 UTSW 8 118,230,956 (GRCm39) missense probably damaging 1.00
R5894:Plcg2 UTSW 8 118,231,088 (GRCm39) missense probably damaging 0.99
R6142:Plcg2 UTSW 8 118,312,010 (GRCm39) missense probably benign
R6609:Plcg2 UTSW 8 118,294,909 (GRCm39) missense probably benign 0.31
R6684:Plcg2 UTSW 8 118,323,071 (GRCm39) missense probably damaging 0.99
R6710:Plcg2 UTSW 8 118,284,086 (GRCm39) missense probably benign 0.05
R6931:Plcg2 UTSW 8 118,284,058 (GRCm39) missense probably benign 0.24
R6946:Plcg2 UTSW 8 118,230,929 (GRCm39) missense probably benign
R7036:Plcg2 UTSW 8 118,323,045 (GRCm39) missense probably benign
R7070:Plcg2 UTSW 8 118,323,045 (GRCm39) missense probably benign
R7214:Plcg2 UTSW 8 118,310,288 (GRCm39) missense probably damaging 1.00
R7351:Plcg2 UTSW 8 118,317,049 (GRCm39) missense possibly damaging 0.95
R7393:Plcg2 UTSW 8 118,306,564 (GRCm39) missense possibly damaging 0.90
R7443:Plcg2 UTSW 8 118,231,028 (GRCm39) missense probably benign 0.00
R7513:Plcg2 UTSW 8 118,306,592 (GRCm39) missense probably damaging 0.99
R7609:Plcg2 UTSW 8 118,284,852 (GRCm39) missense probably benign 0.01
R8134:Plcg2 UTSW 8 118,284,057 (GRCm39) missense probably damaging 0.98
R8399:Plcg2 UTSW 8 118,323,101 (GRCm39) missense probably damaging 1.00
R8701:Plcg2 UTSW 8 118,308,416 (GRCm39) missense probably damaging 1.00
R8774:Plcg2 UTSW 8 118,306,585 (GRCm39) missense possibly damaging 0.79
R8774-TAIL:Plcg2 UTSW 8 118,306,585 (GRCm39) missense possibly damaging 0.79
R8938:Plcg2 UTSW 8 118,231,114 (GRCm39) critical splice donor site probably null
R9003:Plcg2 UTSW 8 118,342,002 (GRCm39) missense
R9286:Plcg2 UTSW 8 118,331,976 (GRCm39) missense probably benign 0.19
R9318:Plcg2 UTSW 8 118,323,107 (GRCm39) missense probably benign
RF008:Plcg2 UTSW 8 118,300,263 (GRCm39) splice site probably null
X0027:Plcg2 UTSW 8 118,282,722 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- TTGTCCAATGCCAGCAATCC -3'
(R):5'- AGTCATTGGGGAAGGTCTCG -3'

Sequencing Primer
(F):5'- ATGCCAGCAATCCCCGGAG -3'
(R):5'- CATTGGGGAAGGTCTCGCTCTC -3'
Posted On 2019-07-31