Incidental Mutation 'IGL00952:Plcg2'
ID28046
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plcg2
Ensembl Gene ENSMUSG00000034330
Gene Namephospholipase C, gamma 2
SynonymsPlcg-2, PLCgamma2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00952
Quality Score
Status
Chromosome8
Chromosomal Location117498291-117635142 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 117607217 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 910 (M910L)
Ref Sequence ENSEMBL: ENSMUSP00000079991 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081232]
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: M910L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000079991
Gene: ENSMUSG00000034330
AA Change: M910L

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
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 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
1810009J06Rik T G 6: 40,964,799 I4S probably benign Het
Abca8b A G 11: 109,969,060 probably null Het
Aftph A T 11: 20,727,483 V42E probably damaging Het
AI467606 A G 7: 127,092,702 S150G probably damaging Het
Art4 T C 6: 136,854,820 N108D possibly damaging Het
B9d1 G A 11: 61,512,678 V167I possibly damaging Het
Ccdc47 A T 11: 106,203,532 probably null Het
Ccdc96 T A 5: 36,485,080 probably benign Het
Cfap44 A G 16: 44,421,275 I670V probably benign Het
Col18a1 T G 10: 77,069,979 K909Q possibly damaging Het
Col8a2 A G 4: 126,309,791 Y59C probably damaging Het
Coro6 A T 11: 77,468,465 D288V probably damaging Het
Cul4a C T 8: 13,146,562 L739F probably damaging Het
Dmxl2 C T 9: 54,416,882 V1073I probably damaging Het
Dnah11 T C 12: 118,196,651 T115A possibly damaging Het
Fdx1l A G 9: 21,073,262 probably null Het
Flnc C T 6: 29,459,547 Q2549* probably null Het
Foxn2 T C 17: 88,475,880 C188R probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Ilf3 T C 9: 21,396,051 L343P probably damaging Het
Itgb2l C T 16: 96,426,750 G518S probably damaging Het
Itpr2 T A 6: 146,158,961 I2486F probably damaging Het
Kat2a A G 11: 100,706,151 V681A probably damaging Het
Kif17 A G 4: 138,262,708 N69S possibly damaging Het
Kif26b G A 1: 178,932,205 D2106N probably damaging Het
Klf6 A G 13: 5,861,681 T15A probably benign Het
Lyst A G 13: 13,678,107 T2231A probably benign Het
Mark4 T C 7: 19,431,824 T515A possibly damaging Het
Mast3 A T 8: 70,780,683 probably benign Het
Nalcn T C 14: 123,348,789 K722R probably benign Het
Ncf2 G A 1: 152,836,106 E524K probably benign Het
Olfr1135 A T 2: 87,671,815 I184N probably damaging Het
Olfr510 A G 7: 108,668,238 N274S possibly damaging Het
Olfr681 A G 7: 105,122,407 probably null Het
Olfr895 A T 9: 38,268,505 probably benign Het
Pramef17 T C 4: 143,993,324 H157R probably benign Het
Rai1 A T 11: 60,187,992 K961* probably null Het
Rsph14 T C 10: 75,029,769 D112G probably benign Het
Sgo1 T A 17: 53,687,247 D59V probably damaging Het
Slc22a29 A T 19: 8,217,857 V138E probably damaging Het
Slc9a1 T A 4: 133,416,382 V393D probably damaging Het
Smg6 A G 11: 74,929,148 R82G probably benign Het
Sppl3 T C 5: 115,074,876 S55P probably benign Het
Srsf12 A C 4: 33,226,103 Q122P possibly damaging Het
Tas1r2 T C 4: 139,655,252 M67T probably benign Het
Thnsl1 G A 2: 21,211,956 V174I possibly damaging Het
Thumpd1 A G 7: 119,717,009 V239A possibly damaging Het
Tnxb T G 17: 34,713,128 Y2212D probably damaging Het
Trim40 T C 17: 36,882,397 *213W probably null Het
Ttc16 T C 2: 32,770,247 D183G probably damaging Het
Other mutations in Plcg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00594:Plcg2 APN 8 117556071 missense possibly damaging 0.89
IGL00911:Plcg2 APN 8 117586515 missense probably benign 0.17
IGL01115:Plcg2 APN 8 117557329 missense probably damaging 1.00
IGL01326:Plcg2 APN 8 117573999 splice site probably benign
IGL01357:Plcg2 APN 8 117614161 splice site probably benign
IGL01705:Plcg2 APN 8 117581662 missense probably damaging 1.00
IGL01755:Plcg2 APN 8 117621241 missense possibly damaging 0.48
IGL01828:Plcg2 APN 8 117590233 missense probably damaging 1.00
IGL02307:Plcg2 APN 8 117579896 critical splice donor site probably null
IGL02345:Plcg2 APN 8 117585180 missense probably damaging 0.99
IGL02448:Plcg2 APN 8 117607221 missense probably benign
IGL02587:Plcg2 APN 8 117558113 missense possibly damaging 0.80
IGL02646:Plcg2 APN 8 117603883 missense possibly damaging 0.88
IGL03409:Plcg2 APN 8 117583495 missense probably damaging 0.96
Poseidon UTSW 8 117615238 missense probably damaging 1.00
Poseidon2 UTSW 8 117577874 missense possibly damaging 0.80
queen UTSW 8 117581707 missense probably benign 0.00
Theseus UTSW 8 117596332 missense probably damaging 0.99
trident UTSW 8 117612978 missense probably benign 0.00
R0172:Plcg2 UTSW 8 117579782 missense probably benign 0.00
R0194:Plcg2 UTSW 8 117573397 splice site probably benign
R0410:Plcg2 UTSW 8 117615373 missense probably damaging 0.98
R0462:Plcg2 UTSW 8 117585305 missense probably benign 0.06
R0494:Plcg2 UTSW 8 117556104 missense probably damaging 1.00
R0522:Plcg2 UTSW 8 117614288 splice site probably null
R0612:Plcg2 UTSW 8 117573365 missense probably benign 0.01
R1239:Plcg2 UTSW 8 117556044 missense probably benign
R1367:Plcg2 UTSW 8 117615238 missense probably damaging 1.00
R1608:Plcg2 UTSW 8 117614235 missense possibly damaging 0.89
R1756:Plcg2 UTSW 8 117592708 missense probably benign 0.02
R2176:Plcg2 UTSW 8 117612994 missense probably damaging 1.00
R3500:Plcg2 UTSW 8 117612978 missense probably benign 0.00
R4043:Plcg2 UTSW 8 117612978 missense probably benign 0.00
R4654:Plcg2 UTSW 8 117504315 missense probably benign
R4883:Plcg2 UTSW 8 117607133 nonsense probably null
R4932:Plcg2 UTSW 8 117607083 missense probably benign 0.05
R5080:Plcg2 UTSW 8 117590003 missense probably benign 0.10
R5226:Plcg2 UTSW 8 117577874 missense possibly damaging 0.80
R5264:Plcg2 UTSW 8 117634793 missense possibly damaging 0.95
R5298:Plcg2 UTSW 8 117605249 missense probably benign
R5473:Plcg2 UTSW 8 117634401 missense probably benign
R5555:Plcg2 UTSW 8 117612995 nonsense probably null
R5557:Plcg2 UTSW 8 117586557 missense probably damaging 0.99
R5805:Plcg2 UTSW 8 117598495 critical splice donor site probably null
R5826:Plcg2 UTSW 8 117610844 missense probably benign 0.19
R5871:Plcg2 UTSW 8 117504217 missense probably damaging 1.00
R5894:Plcg2 UTSW 8 117504349 missense probably damaging 0.99
R6142:Plcg2 UTSW 8 117585271 missense probably benign
R6609:Plcg2 UTSW 8 117568170 missense probably benign 0.31
R6684:Plcg2 UTSW 8 117596332 missense probably damaging 0.99
R6710:Plcg2 UTSW 8 117557347 missense probably benign 0.05
R6931:Plcg2 UTSW 8 117557319 missense probably benign 0.24
R6946:Plcg2 UTSW 8 117504190 missense probably benign
X0027:Plcg2 UTSW 8 117555983 missense probably benign 0.03
Posted On2013-04-17