Incidental Mutation 'IGL02307:Plcg2'
ID287670
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 #IGL02307
Quality Score
Status
Chromosome8
Chromosomal Location117498291-117635142 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 117579896 bp
ZygosityHeterozygous
Amino Acid Change
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 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
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 122,141,746 D323G probably damaging Het
Ankrd28 A G 14: 31,733,708 C417R probably damaging Het
Astn1 C T 1: 158,674,614 R1133C probably damaging Het
Bdp1 C A 13: 100,093,438 G256V probably damaging Het
Cald1 A G 6: 34,753,455 K252E probably damaging Het
Ccdc141 T C 2: 77,029,342 E985G probably damaging Het
Ccdc144b T C 3: 36,018,867 K422R possibly damaging Het
Cdc23 A G 18: 34,641,389 I279T possibly damaging Het
Col16a1 C T 4: 130,059,009 P416L probably damaging Het
Coro1a T C 7: 126,701,564 D197G probably damaging Het
Ctnnd2 C T 15: 30,647,211 T351I possibly damaging Het
Fam76b A G 9: 13,844,036 N313S probably damaging Het
Fbxw20 C A 9: 109,233,533 W75L possibly damaging Het
Gjd2 T C 2: 114,011,913 T28A possibly damaging Het
Glyctk A C 9: 106,155,764 L350R possibly damaging Het
Gm10260 G T 13: 97,760,363 Q76K probably benign Het
Gm20726 A T 14: 54,632,603 V237D probably damaging Het
Gpr22 C A 12: 31,708,740 C461F possibly damaging Het
Grhl2 A G 15: 37,288,288 T279A probably damaging Het
Gstm3 G A 3: 107,967,613 R108C probably damaging Het
Haus6 T C 4: 86,583,835 T600A possibly damaging Het
Htra4 G A 8: 25,033,694 A285V probably damaging Het
Igkv14-100 C T 6: 68,519,365 P81S probably damaging Het
Kif24 T G 4: 41,395,274 Q533P probably benign Het
Klhl1 A T 14: 96,201,373 N496K possibly damaging Het
Lama3 G T 18: 12,581,783 R1667L probably benign Het
Lct T A 1: 128,286,590 H1815L possibly damaging Het
Mrgprb2 T A 7: 48,552,896 Y27F probably benign Het
Mrpl15 A T 1: 4,783,953 H86Q possibly damaging Het
Myo10 C T 15: 25,776,315 probably benign Het
Nrp1 T C 8: 128,502,720 L893P probably damaging Het
Olfr570 A T 7: 102,900,879 N171Y probably benign Het
Olfr733 A C 14: 50,298,838 I157S probably damaging Het
Ovol1 T A 19: 5,553,615 D86V possibly damaging Het
Pacs2 T A 12: 113,070,773 M851K probably damaging Het
Pde1a A T 2: 79,906,068 M39K possibly damaging Het
Pdpn T C 4: 143,273,980 H94R possibly damaging Het
Pzp A T 6: 128,489,086 Y1210* probably null Het
Rnf148 G T 6: 23,654,891 S35R probably benign Het
Ros1 A T 10: 52,128,438 S1008T possibly damaging Het
Sis A T 3: 72,911,834 probably benign Het
Spag9 T A 11: 94,102,160 probably null Het
Srbd1 A G 17: 86,126,188 L327P probably damaging Het
Steap3 A T 1: 120,241,660 Y264* probably null Het
Swap70 A G 7: 110,281,294 E572G probably benign Het
Traf7 C A 17: 24,513,046 C193F possibly damaging Het
Trmt11 T C 10: 30,594,154 D58G possibly damaging Het
Tsc22d1 T C 14: 76,416,461 S127P probably damaging Het
Usf1 T A 1: 171,415,746 S30R probably damaging Het
Ush1c A G 7: 46,197,188 probably benign Het
Utrn A T 10: 12,750,065 L124* probably null Het
Vmn2r75 T C 7: 86,165,766 N173S probably benign Het
Zic2 T C 14: 122,476,634 V320A possibly 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
IGL00952:Plcg2 APN 8 117607217 missense probably benign
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
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 On2015-04-16