Incidental Mutation 'R3500:Plcg2'
ID 273767
Institutional Source Beutler Lab
Gene Symbol Plcg2
Ensembl Gene ENSMUSG00000034330
Gene Name phospholipase C, gamma 2
Synonyms Plcg-2, PLCgamma2
MMRRC Submission 040663-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3500 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 118225030-118361881 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 118339717 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 1043 (M1043V)
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: M1043V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000079991
Gene: ENSMUSG00000034330
AA Change: M1043V

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 0.3967 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.7%
  • 20x: 96.2%
Validation Efficiency 98% (53/54)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amhr2 A G 15: 102,355,501 (GRCm39) D188G probably benign Het
Arl15 G A 13: 114,104,228 (GRCm39) E102K probably damaging Het
Atp10d C T 5: 72,403,066 (GRCm39) R319C probably damaging Het
Cetn4 A T 3: 37,364,109 (GRCm39) F34I probably benign Het
Chd8 G T 14: 52,443,110 (GRCm39) H510N probably benign Het
Chil5 T C 3: 105,925,536 (GRCm39) D157G probably damaging Het
Clcn1 T C 6: 42,269,929 (GRCm39) S251P probably damaging Het
Clstn3 A T 6: 124,408,670 (GRCm39) C881S probably benign Het
Cnot4 G A 6: 35,057,076 (GRCm39) probably benign Het
Copg1 G A 6: 87,872,905 (GRCm39) probably benign Het
Czib C T 4: 107,748,710 (GRCm39) R83W probably damaging Het
Eftud2 A G 11: 102,735,006 (GRCm39) M631T probably damaging Het
Elavl3 A G 9: 21,930,040 (GRCm39) V288A probably damaging Het
Fancb A G X: 163,779,104 (GRCm39) T721A probably damaging Het
Fat2 A G 11: 55,151,342 (GRCm39) F3800S probably damaging Het
Fgd2 T C 17: 29,584,575 (GRCm39) V173A possibly damaging Het
Gabrr1 T C 4: 33,158,184 (GRCm39) probably benign Het
Gata4 C T 14: 63,437,982 (GRCm39) G390S possibly damaging Het
Gm9396 C A 3: 129,862,144 (GRCm39) noncoding transcript Het
Grid2 T C 6: 63,480,383 (GRCm39) S66P probably damaging Het
Hdac9 C A 12: 34,487,352 (GRCm39) M16I probably benign Het
Kmt2c A T 5: 25,504,477 (GRCm39) D3610E probably benign Het
Lactb2 A T 1: 13,730,673 (GRCm39) M1K probably null Het
Ldhb T C 6: 142,447,173 (GRCm39) D47G probably damaging Het
Map3k11 A T 19: 5,740,275 (GRCm39) M1L probably benign Het
Mecom C T 3: 30,035,061 (GRCm39) R205H probably damaging Het
Mob1b A G 5: 88,897,479 (GRCm39) D129G probably benign Het
Nbea A G 3: 55,588,431 (GRCm39) V2436A possibly damaging Het
Neb T C 2: 52,215,797 (GRCm39) N170S probably damaging Het
Nedd4l G A 18: 65,345,931 (GRCm39) A848T probably damaging Het
Nr5a1 G A 2: 38,597,952 (GRCm39) R282* probably null Het
Or4c102 A G 2: 88,422,285 (GRCm39) T46A probably damaging Het
Or4c119 C T 2: 88,987,403 (GRCm39) G39R probably damaging Het
Or4d10c A G 19: 12,065,421 (GRCm39) V245A possibly damaging Het
Or4f47 T C 2: 111,972,472 (GRCm39) F61L possibly damaging Het
Or52e2 T C 7: 102,804,297 (GRCm39) Y219C probably damaging Het
Pcdhb19 T A 18: 37,630,532 (GRCm39) L109* probably null Het
Podxl2 T C 6: 88,819,900 (GRCm39) D554G probably damaging Het
Ppp3ca A G 3: 136,587,273 (GRCm39) T252A probably benign Het
Pramel6 A G 2: 87,339,569 (GRCm39) H111R probably damaging Het
Prr19 A G 7: 25,002,692 (GRCm39) E130G probably damaging Het
Rab44 C T 17: 29,357,041 (GRCm39) A57V probably benign Het
Rhbdl3 T C 11: 80,210,531 (GRCm39) F95L probably damaging Het
Sdk1 G T 5: 141,992,371 (GRCm39) probably benign Het
Tas2r122 T A 6: 132,688,523 (GRCm39) K123N probably damaging Het
Tbpl2 C T 2: 23,977,151 (GRCm39) R289Q probably benign Het
Trpm2 A G 10: 77,768,136 (GRCm39) F788L probably benign Het
Ttn G A 2: 76,560,628 (GRCm39) L29258F probably damaging Het
Ttn G T 2: 76,591,509 (GRCm39) F19307L possibly damaging Het
Vmn2r23 T C 6: 123,690,129 (GRCm39) I335T possibly 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
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
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'- TGTTTCCCTGGAGTCAGATGTC -3'
(R):5'- ACAGGAAGGGTTTTCAGCCC -3'

Sequencing Primer
(F):5'- CAGATGTCTTTTCTGAACCGC -3'
(R):5'- GGGTTTTCAGCCCAGAATGAC -3'
Posted On 2015-04-02