Incidental Mutation 'R4654:Plcg2'
ID 351552
Institutional Source Beutler Lab
Gene Symbol Plcg2
Ensembl Gene ENSMUSG00000034330
Gene Name phospholipase C, gamma 2
Synonyms Plcg-2, PLCgamma2
MMRRC Submission 041914-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4654 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 118225030-118361881 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 118231054 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 45 (M45I)
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 benign
Transcript: ENSMUST00000081232
AA Change: M45I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000079991
Gene: ENSMUSG00000034330
AA Change: M45I

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 97% (98/101)
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 A T 8: 25,193,819 (GRCm39) C398S probably damaging Het
Adamts10 A G 17: 33,756,304 (GRCm39) K316E possibly damaging Het
Ap1m1 T C 8: 73,006,717 (GRCm39) F238L possibly damaging Het
Aph1a T A 3: 95,803,088 (GRCm39) D180E probably benign Het
Atp9b A G 18: 80,935,093 (GRCm39) F201L probably benign Het
Btbd9 A C 17: 30,704,561 (GRCm39) probably benign Het
C2cd5 T C 6: 142,975,910 (GRCm39) T768A probably benign Het
Casq1 C T 1: 172,037,965 (GRCm39) probably benign Het
Cimap2 C A 4: 106,467,612 (GRCm39) M341I probably benign Het
Cltc A T 11: 86,617,196 (GRCm39) M351K probably benign Het
Cnp A G 11: 100,469,877 (GRCm39) E271G possibly damaging Het
Col22a1 T C 15: 71,845,544 (GRCm39) D406G possibly damaging Het
Cylc2 T C 4: 51,228,279 (GRCm39) S117P probably benign Het
Cyp2b13 T C 7: 25,761,072 (GRCm39) L43P probably damaging Het
Cyp3a16 A G 5: 145,373,267 (GRCm39) V500A probably benign Het
Dclk2 T C 3: 86,743,683 (GRCm39) D262G probably damaging Het
Dcun1d3 A C 7: 119,458,742 (GRCm39) Y98D probably damaging Het
Ddx39b A G 17: 35,472,464 (GRCm39) *429W probably null Het
Dennd5b T C 6: 148,908,335 (GRCm39) N986S probably damaging Het
Dipk1a T C 5: 108,057,982 (GRCm39) probably null Het
Dusp9 G A X: 72,684,378 (GRCm39) R182Q probably benign Het
Ecpas A T 4: 58,834,523 (GRCm39) I785N possibly damaging Het
Edil3 A G 13: 89,437,589 (GRCm39) K397E probably damaging Het
Ehd1 T C 19: 6,326,994 (GRCm39) probably benign Het
Fam13a A T 6: 58,964,152 (GRCm39) H93Q probably benign Het
Farp1 T C 14: 121,513,716 (GRCm39) I837T possibly damaging Het
Fbxl5 T A 5: 43,922,771 (GRCm39) I216F probably damaging Het
Gadl1 G A 9: 115,770,408 (GRCm39) E74K probably damaging Het
Gnpnat1 A G 14: 45,618,436 (GRCm39) V122A probably damaging Het
Hdac10 C T 15: 89,011,036 (GRCm39) probably benign Het
Heatr5b T C 17: 79,128,130 (GRCm39) S502G possibly damaging Het
Hr C A 14: 70,801,013 (GRCm39) A695E probably damaging Het
Ift80 A T 3: 68,825,870 (GRCm39) I490N possibly damaging Het
Ipo11 A G 13: 106,970,692 (GRCm39) probably benign Het
Iqch T G 9: 63,432,195 (GRCm39) Y400S probably damaging Het
Jag2 C T 12: 112,877,266 (GRCm39) D702N probably benign Het
Kiss1r T A 10: 79,757,624 (GRCm39) L326Q probably damaging Het
Lrrc42 A T 4: 107,104,746 (GRCm39) I73N probably damaging Het
Lrrc55 C T 2: 85,026,880 (GRCm39) G48D possibly damaging Het
Lrrk2 T C 15: 91,649,884 (GRCm39) S1674P probably damaging Het
Mctp2 A G 7: 71,739,942 (GRCm39) L816P probably damaging Het
Mipol1 A T 12: 57,352,918 (GRCm39) T86S probably benign Het
Mkrn3 C T 7: 62,069,452 (GRCm39) R113H probably damaging Het
Mmp1b A G 9: 7,370,849 (GRCm39) V302A probably benign Het
Msc A T 1: 14,826,053 (GRCm39) probably null Het
Msmo1 C A 8: 65,180,888 (GRCm39) V9L probably benign Het
Nbeal2 G A 9: 110,461,072 (GRCm39) R1630C probably damaging Het
Nlgn1 C T 3: 26,187,850 (GRCm39) V12I possibly damaging Het
Npas3 T C 12: 54,108,915 (GRCm39) probably null Het
Nr2e3 A G 9: 59,856,355 (GRCm39) probably benign Het
Oca2 C T 7: 55,978,560 (GRCm39) A576V probably benign Het
Or5b21 T A 19: 12,839,596 (GRCm39) C152* probably null Het
Or6d12 T C 6: 116,493,409 (GRCm39) Y224H probably damaging Het
Or6z7 T C 7: 6,484,045 (GRCm39) T37A probably benign Het
Parp6 A G 9: 59,548,383 (GRCm39) probably null Het
Pate13 T A 9: 35,820,287 (GRCm39) C4S probably damaging Het
Phlpp1 A T 1: 106,267,231 (GRCm39) M715L probably benign Het
Pi4k2a G A 19: 42,101,544 (GRCm39) probably null Het
Pik3ap1 A G 19: 41,316,348 (GRCm39) S305P probably damaging Het
Ppm1m A T 9: 106,073,601 (GRCm39) L317H probably damaging Het
Ppp1r21 T G 17: 88,866,227 (GRCm39) M341R probably benign Het
Prdx3 A G 19: 60,853,674 (GRCm39) V217A possibly damaging Het
Ptk2b A G 14: 66,400,496 (GRCm39) V773A possibly damaging Het
Raly T C 2: 154,699,376 (GRCm39) V60A probably damaging Het
Reps1 A G 10: 17,990,148 (GRCm39) D420G probably damaging Het
Rev1 A T 1: 38,118,337 (GRCm39) probably benign Het
Rgs2 T G 1: 143,878,650 (GRCm39) probably benign Het
Rlf G T 4: 121,007,798 (GRCm39) T394K probably benign Het
Rptn A T 3: 93,304,792 (GRCm39) R708S possibly damaging Het
Sec23b T A 2: 144,414,494 (GRCm39) M402K probably benign Het
Skic2 A G 17: 35,068,922 (GRCm39) C26R probably damaging Het
Slx9 T C 10: 77,325,860 (GRCm39) M170V possibly damaging Het
Smpd4 A G 16: 17,459,992 (GRCm39) probably benign Het
Synj2 A G 17: 6,063,813 (GRCm39) E434G probably damaging Het
Tatdn2 T A 6: 113,684,326 (GRCm39) F64I probably benign Het
Tex21 A C 12: 76,263,860 (GRCm39) H177Q probably benign Het
Tln1 T A 4: 43,535,954 (GRCm39) Q2077L probably null Het
Tnrc6c T C 11: 117,611,797 (GRCm39) V145A probably benign Het
Ttn C T 2: 76,616,936 (GRCm39) probably benign Het
Uggt2 A G 14: 119,269,670 (GRCm39) F954S possibly damaging Het
Ugt2a1 A G 5: 87,634,083 (GRCm39) S175P probably damaging Het
Vcl A G 14: 21,035,820 (GRCm39) probably null Het
Vegfa A T 17: 46,336,176 (GRCm39) probably benign Het
Vmn2r68 G A 7: 84,882,769 (GRCm39) Q328* probably null Het
Vmn2r7 A G 3: 64,626,864 (GRCm39) Y142H probably benign Het
Wdr17 C T 8: 55,134,434 (GRCm39) G349R probably damaging Het
Ybx3 G T 6: 131,347,290 (GRCm39) R282S probably damaging Het
Zfp566 T C 7: 29,777,194 (GRCm39) H329R probably damaging Het
Zfp786 T C 6: 47,797,868 (GRCm39) I357V probably benign Het
Zfr2 C A 10: 81,087,083 (GRCm39) probably null 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
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
R7072:Plcg2 UTSW 8 118,316,574 (GRCm39) splice site probably null
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'- GCTACTGACACTCCAGTCAC -3'
(R):5'- ACACTCATCCTGACAGACGG -3'

Sequencing Primer
(F):5'- ACCTCAGTTCATTAAAGCCAGTTC -3'
(R):5'- TCCTGACAGACGGGTTTAAATAAAGC -3'
Posted On 2015-10-08