Incidental Mutation 'R5473:Plcg2'
| ID |
433930 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcg2
|
| Ensembl Gene |
ENSMUSG00000034330 |
| Gene Name |
phospholipase C, gamma 2 |
| Synonyms |
Plcg-2, PLCgamma2 |
| MMRRC Submission |
043034-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5473 (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 118361140 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 1233
(K1233R)
|
| 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: K1233R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000079991
Gene: ENSMUSG00000034330
AA Change: K1233R
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
0.0591 |
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 90.6%
|
| Validation Efficiency |
100% (66/66) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm4 |
T |
C |
7: 119,312,173 (GRCm39) |
Y549H |
probably damaging |
Het |
| Adamtsl4 |
G |
T |
3: 95,587,303 (GRCm39) |
Q758K |
probably damaging |
Het |
| Anapc1 |
G |
T |
2: 128,449,115 (GRCm39) |
|
probably benign |
Het |
| Ankrd26 |
A |
T |
6: 118,492,797 (GRCm39) |
C1316S |
probably benign |
Het |
| Birc5 |
T |
C |
11: 117,743,533 (GRCm39) |
V89A |
possibly damaging |
Het |
| Camk2d |
G |
T |
3: 126,391,048 (GRCm39) |
|
probably benign |
Het |
| Ccdc47 |
A |
T |
11: 106,095,855 (GRCm39) |
S280R |
probably damaging |
Het |
| Cntnap5a |
T |
A |
1: 116,016,986 (GRCm39) |
F193Y |
probably benign |
Het |
| Cntrob |
G |
T |
11: 69,213,579 (GRCm39) |
D70E |
possibly damaging |
Het |
| Col24a1 |
A |
C |
3: 145,243,016 (GRCm39) |
M1519L |
probably benign |
Het |
| Col2a1 |
G |
T |
15: 97,885,370 (GRCm39) |
A491D |
unknown |
Het |
| Crat |
A |
G |
2: 30,297,726 (GRCm39) |
L266P |
probably damaging |
Het |
| Dlgap1 |
A |
T |
17: 70,824,025 (GRCm39) |
|
probably benign |
Het |
| Dnaaf10 |
T |
C |
11: 17,174,591 (GRCm39) |
V153A |
probably damaging |
Het |
| Eya4 |
T |
A |
10: 23,039,351 (GRCm39) |
H104L |
probably benign |
Het |
| Fam83b |
T |
C |
9: 76,398,782 (GRCm39) |
K774E |
probably damaging |
Het |
| Fgd6 |
T |
C |
10: 93,880,538 (GRCm39) |
I464T |
probably benign |
Het |
| Gorasp2 |
A |
C |
2: 70,508,950 (GRCm39) |
M123L |
probably damaging |
Het |
| H2-M10.3 |
A |
T |
17: 36,678,261 (GRCm39) |
V188E |
probably damaging |
Het |
| Hnrnpk |
A |
T |
13: 58,541,913 (GRCm39) |
W333R |
probably damaging |
Het |
| Hrh4 |
T |
C |
18: 13,154,985 (GRCm39) |
Y175H |
probably benign |
Het |
| Igf2r |
G |
T |
17: 12,914,201 (GRCm39) |
T1756K |
probably benign |
Het |
| Kcnq5 |
A |
G |
1: 21,527,626 (GRCm39) |
|
probably null |
Het |
| Kiz |
G |
T |
2: 146,811,915 (GRCm39) |
E675* |
probably null |
Het |
| Mcm3ap |
T |
G |
10: 76,338,593 (GRCm39) |
L1407R |
probably damaging |
Het |
| Mdc1 |
A |
G |
17: 36,158,952 (GRCm39) |
D444G |
probably benign |
Het |
| Myl3 |
C |
A |
9: 110,597,026 (GRCm39) |
H129N |
probably damaging |
Het |
| Neo1 |
T |
C |
9: 58,788,126 (GRCm39) |
N1309S |
possibly damaging |
Het |
| Nrxn1 |
A |
T |
17: 90,897,520 (GRCm39) |
Y269N |
probably damaging |
Het |
| Nsd1 |
A |
G |
13: 55,395,585 (GRCm39) |
N1165S |
probably damaging |
Het |
| Nuf2 |
T |
C |
1: 169,334,856 (GRCm39) |
D302G |
probably benign |
Het |
| Olfr908 |
A |
G |
9: 38,427,508 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or10j3 |
G |
C |
1: 173,031,732 (GRCm39) |
G270R |
probably benign |
Het |
| Or14j1 |
T |
C |
17: 38,146,630 (GRCm39) |
F247L |
probably benign |
Het |
| Or5d38 |
A |
T |
2: 87,954,981 (GRCm39) |
M116K |
possibly damaging |
Het |
| Oxsm |
A |
T |
14: 16,242,045 (GRCm38) |
S241R |
probably damaging |
Het |
| Pde1a |
G |
T |
2: 79,736,372 (GRCm39) |
S87R |
probably damaging |
Het |
| Plagl2 |
A |
T |
2: 153,074,114 (GRCm39) |
C262* |
probably null |
Het |
| Pon3 |
A |
T |
6: 5,256,177 (GRCm39) |
I17K |
possibly damaging |
Het |
| Ppfia1 |
A |
T |
7: 144,045,229 (GRCm39) |
M951K |
probably benign |
Het |
| Pramel12 |
A |
G |
4: 143,145,874 (GRCm39) |
R448G |
probably damaging |
Het |
| Prpf31 |
A |
G |
7: 3,642,824 (GRCm39) |
K438E |
probably benign |
Het |
| Pum3 |
C |
A |
19: 27,396,248 (GRCm39) |
V328F |
probably damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,723,495 (GRCm39) |
E1677G |
probably benign |
Het |
| Rpf2 |
A |
G |
10: 40,103,627 (GRCm39) |
V96A |
possibly damaging |
Het |
| Rsrc2 |
C |
T |
5: 123,869,150 (GRCm39) |
A98T |
probably damaging |
Het |
| Saraf |
G |
A |
8: 34,628,412 (GRCm39) |
R86Q |
probably damaging |
Het |
| Scara5 |
T |
A |
14: 65,977,788 (GRCm39) |
D349E |
possibly damaging |
Het |
| Slc30a1 |
T |
C |
1: 191,641,734 (GRCm39) |
V460A |
possibly damaging |
Het |
| Tdrd7 |
G |
T |
4: 46,020,877 (GRCm39) |
V768L |
possibly damaging |
Het |
| Tshz2 |
T |
C |
2: 169,725,718 (GRCm39) |
S105P |
probably benign |
Het |
| Ufsp2 |
A |
G |
8: 46,445,258 (GRCm39) |
I362M |
probably damaging |
Het |
| Ugt1a7c |
T |
A |
1: 88,023,159 (GRCm39) |
I106K |
probably benign |
Het |
| Zdhhc5 |
A |
G |
2: 84,520,810 (GRCm39) |
Y456H |
probably damaging |
Het |
|
| Other mutations in Plcg2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
|
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'- GCTTGGAAGAGGTCACTCAC -3'
(R):5'- GGATCCAATGAGAACACACCTG -3'
Sequencing Primer
(F):5'- AGAGGTCACTCACAAGGTTGTTCTC -3'
(R):5'- CGGAGCTTAGGCAGTGTTC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation