Incidental Mutation 'R7036:Plcg2'
ID 546687
Institutional Source Beutler Lab
Gene Symbol Plcg2
Ensembl Gene ENSMUSG00000034330
Gene Name phospholipase C, gamma 2
Synonyms Plcg-2, PLCgamma2
MMRRC Submission 045012-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7036 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 118225030-118361881 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 118323045 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 700 (R700H)
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: R700H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000079991
Gene: ENSMUSG00000034330
AA Change: R700H

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T A 10: 100,445,118 (GRCm39) probably null Het
Ahnak2 A G 12: 112,745,216 (GRCm39) probably benign Het
Akt2 T C 7: 27,336,437 (GRCm39) probably null Het
Aldh1a7 A T 19: 20,685,542 (GRCm39) L336Q possibly damaging Het
Ank2 T C 3: 126,740,041 (GRCm39) probably benign Het
Ank3 C T 10: 69,835,209 (GRCm39) T680M probably damaging Het
Apeh T C 9: 107,971,470 (GRCm39) E59G possibly damaging Het
Arl8a G C 1: 135,082,206 (GRCm39) E145Q probably benign Het
Armc8 C T 9: 99,366,018 (GRCm39) probably null Het
Armh3 A G 19: 45,953,688 (GRCm39) I195T probably damaging Het
Arsj T C 3: 126,158,649 (GRCm39) L76P probably damaging Het
Atp2b1 C T 10: 98,823,172 (GRCm39) T244I probably damaging Het
Bcl6 A T 16: 23,793,611 (GRCm39) L112Q probably damaging Het
Bfsp1 T A 2: 143,668,843 (GRCm39) T579S possibly damaging Het
Btaf1 C A 19: 36,981,869 (GRCm39) T1633K probably benign Het
Cacng8 A G 7: 3,463,819 (GRCm39) S324G probably benign Het
Cd2ap A T 17: 43,109,490 (GRCm39) L623Q probably damaging Het
Cerkl T C 2: 79,171,722 (GRCm39) I379V probably benign Het
Cndp2 T A 18: 84,688,070 (GRCm39) H307L possibly damaging Het
Derl1 A G 15: 57,742,443 (GRCm39) probably null Het
Dixdc1 T A 9: 50,593,864 (GRCm39) R254S probably benign Het
Dop1b T A 16: 93,574,378 (GRCm39) D30E probably benign Het
Duox2 T G 2: 122,110,934 (GRCm39) H1513P probably damaging Het
Dyrk1a G A 16: 94,487,427 (GRCm39) V546I probably benign Het
E130308A19Rik A C 4: 59,719,991 (GRCm39) K508Q probably damaging Het
Emc8 A T 8: 121,385,790 (GRCm39) V108E probably benign Het
Epb41l1 A G 2: 156,371,322 (GRCm39) T720A probably benign Het
Fcgr4 T A 1: 170,847,657 (GRCm39) M85K probably benign Het
Fem1b T A 9: 62,704,310 (GRCm39) I317F probably damaging Het
Focad A G 4: 88,042,874 (GRCm39) E36G probably benign Het
Fryl C T 5: 73,212,951 (GRCm39) E2275K probably benign Het
Galnt11 T C 5: 25,463,811 (GRCm39) I361T probably damaging Het
Garin3 G A 11: 46,298,235 (GRCm39) S513N Het
Gatad2a A T 8: 70,370,644 (GRCm39) N114K probably damaging Het
Gcnt2 CTAATG C 13: 41,041,032 (GRCm39) probably null Het
Gramd1a A G 7: 30,832,181 (GRCm39) probably null Het
Gsn T A 2: 35,182,611 (GRCm39) W187R probably damaging Het
Hoxc12 G A 15: 102,846,795 (GRCm39) G229D probably damaging Het
Hycc2 T A 1: 58,574,696 (GRCm39) M282L probably benign Het
Ints14 T C 9: 64,871,827 (GRCm39) V55A probably benign Het
Itga9 T C 9: 118,527,433 (GRCm39) L528P probably benign Het
Klf1 C T 8: 85,629,379 (GRCm39) S68F possibly damaging Het
Kmt2e A G 5: 23,683,741 (GRCm39) E333G probably null Het
Krt39 A C 11: 99,412,062 (GRCm39) V8G probably benign Het
Krt71 A G 15: 101,646,772 (GRCm39) I312T probably benign Het
Lrp1b T C 2: 41,002,354 (GRCm39) D2001G possibly damaging Het
Lrrc37 T A 11: 103,506,638 (GRCm39) probably benign Het
Lrrc71 T C 3: 87,655,693 (GRCm39) T27A probably benign Het
Lrrcc1 T C 3: 14,628,069 (GRCm39) V958A possibly damaging Het
Med15 A T 16: 17,516,019 (GRCm39) M1K probably null Het
Mrgpra3 G T 7: 47,239,838 (GRCm39) N29K possibly damaging Het
Myl1 T C 1: 66,969,395 (GRCm39) N79S probably damaging Het
Naip2 A T 13: 100,291,529 (GRCm39) D1136E probably benign Het
Nat10 T C 2: 103,584,453 (GRCm39) N108S probably benign Het
Ncald A T 15: 37,369,122 (GRCm39) S178T probably benign Het
Ndufs2 T C 1: 171,065,877 (GRCm39) D256G probably benign Het
Nek5 T C 8: 22,597,739 (GRCm39) N280S probably benign Het
Or5ak25 A G 2: 85,268,774 (GRCm39) S243P probably damaging Het
Or5d39 T A 2: 87,979,469 (GRCm39) D298V probably damaging Het
Parp1 G T 1: 180,425,817 (GRCm39) K849N possibly damaging Het
Pcdhb4 T A 18: 37,441,835 (GRCm39) C382S possibly damaging Het
Plce1 A G 19: 38,727,801 (GRCm39) N1520S probably damaging Het
Popdc2 A T 16: 38,183,173 (GRCm39) Y52F probably damaging Het
Prrx1 T A 1: 163,075,907 (GRCm39) M220L probably benign Het
Pspc1 A C 14: 56,996,085 (GRCm39) probably null Het
Ptchd1 T A X: 154,357,708 (GRCm39) Y499F probably damaging Het
Ptpn20 A G 14: 33,336,392 (GRCm39) *44W probably null Het
Qars1 T A 9: 108,391,976 (GRCm39) V83E probably damaging Het
Rrh T C 3: 129,609,342 (GRCm39) E55G possibly damaging Het
Sash1 C A 10: 8,605,847 (GRCm39) E848* probably null Het
Sds A T 5: 120,618,912 (GRCm39) K125M possibly damaging Het
Serpinf2 A T 11: 75,329,244 (GRCm39) probably benign Het
Sh2b2 G A 5: 136,247,739 (GRCm39) T604I probably benign Het
Smug1 A G 15: 103,064,369 (GRCm39) L184P probably damaging Het
Spatc1 A G 15: 76,168,080 (GRCm39) T180A probably benign Het
Ssr1 A T 13: 38,178,001 (GRCm39) L20Q probably null Het
Supt4a A G 11: 87,634,084 (GRCm39) E100G probably damaging Het
Tbx1 G T 16: 18,405,551 (GRCm39) P38T unknown Het
Tcl1 T C 12: 105,183,860 (GRCm39) probably benign Het
Teddm2 T C 1: 153,726,320 (GRCm39) I132V probably benign Het
Tmem131 C T 1: 36,832,054 (GRCm39) G1861E possibly damaging Het
Tpr A T 1: 150,299,358 (GRCm39) H1186L probably benign Het
Trim34b A T 7: 103,978,743 (GRCm39) probably benign Het
Trpm2 T C 10: 77,748,426 (GRCm39) M1415V probably benign Het
Ttll12 A G 15: 83,471,086 (GRCm39) F264S probably benign Het
Vmn2r59 T C 7: 41,695,644 (GRCm39) E256G probably benign Het
Vmn2r93 A T 17: 18,546,672 (GRCm39) H848L probably benign Het
Vps35l T C 7: 118,372,315 (GRCm39) S290P probably damaging Het
Wdr70 T C 15: 7,913,855 (GRCm39) D598G possibly damaging Het
Ybey T C 10: 76,304,197 (GRCm39) S2G possibly damaging Het
Zfp346 A T 13: 55,280,200 (GRCm39) Q308L probably benign Het
Zfp872 C T 9: 22,111,856 (GRCm39) P445L probably benign 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
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
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'- AGCTGGGTGTTGAGCATCAC -3'
(R):5'- ATGACTAACAAGCCCAAGGG -3'

Sequencing Primer
(F):5'- TGAAAAGACCCCAGTGTCTCGTG -3'
(R):5'- GGGCGTCAACCTACCATATTATATCG -3'
Posted On 2019-05-13