Incidental Mutation 'IGL00594:Plcg2'
ID 4958
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plcg2
Ensembl Gene ENSMUSG00000034330
Gene Name phospholipase C, gamma 2
Synonyms Plcg-2, PLCgamma2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00594
Quality Score
Status
Chromosome 8
Chromosomal Location 118225030-118361881 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 118282810 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 97 (T97I)
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 possibly damaging
Transcript: ENSMUST00000081232
AA Change: T97I

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000079991
Gene: ENSMUSG00000034330
AA Change: T97I

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A130010J15Rik A G 1: 192,857,109 (GRCm39) T154A probably benign Het
Acox1 A G 11: 116,065,331 (GRCm39) probably benign Het
Adgrg2 G A X: 159,268,773 (GRCm39) V677I probably benign Het
Aifm1 T C X: 47,570,976 (GRCm39) T386A probably benign Het
Aspm T C 1: 139,415,160 (GRCm39) probably benign Het
Fgfr2 A G 7: 129,830,453 (GRCm39) V175A probably damaging Het
Gm382 T C X: 125,970,775 (GRCm39) Y987H probably benign Het
Golga3 A T 5: 110,352,841 (GRCm39) M911L probably benign Het
Hmgxb3 A G 18: 61,290,811 (GRCm39) V354A probably benign Het
Ifne T C 4: 88,798,041 (GRCm39) N126D probably benign Het
Igkv3-7 T C 6: 70,584,807 (GRCm39) V49A possibly damaging Het
Kbtbd8 A T 6: 95,103,494 (GRCm39) Y381F probably damaging Het
Klc1 C T 12: 111,743,318 (GRCm39) T215M probably damaging Het
Lrp2 A T 2: 69,316,624 (GRCm39) V2119E probably benign Het
Lrrc7 A G 3: 157,892,647 (GRCm39) V322A probably benign Het
Mageb5b C T X: 90,679,091 (GRCm39) Q348* probably null Het
Ms4a14 A G 19: 11,278,983 (GRCm39) S1192P possibly damaging Het
Ndufaf6 T C 4: 11,062,127 (GRCm39) Y168C probably damaging Het
Rasgrp4 T C 7: 28,847,966 (GRCm39) probably benign Het
Rgs22 T C 15: 36,083,777 (GRCm39) H515R probably benign Het
Rpn1 G T 6: 88,072,611 (GRCm39) R318L probably damaging Het
Shroom2 A T X: 151,396,512 (GRCm39) F1359Y probably damaging Het
Tars3 T A 7: 65,325,880 (GRCm39) probably null Het
Tbc1d12 A G 19: 38,884,487 (GRCm39) E346G possibly damaging Het
Tbccd1 A G 16: 22,641,294 (GRCm39) F361S possibly damaging Het
Tenm1 G T X: 41,803,913 (GRCm39) P837T probably benign Het
Tmem144 A G 3: 79,746,474 (GRCm39) V27A probably benign Het
Zfp616 T A 11: 73,973,789 (GRCm39) N19K possibly damaging Het
Zkscan7 T C 9: 122,724,659 (GRCm39) Y543H possibly damaging Het
Other mutations in Plcg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2012-04-20