Incidental Mutation 'R2176:Plcg2'
| ID |
236882 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcg2
|
| Ensembl Gene |
ENSMUSG00000034330 |
| Gene Name |
phospholipase C, gamma 2 |
| Synonyms |
Plcg-2, PLCgamma2 |
| MMRRC Submission |
040178-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2176 (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 118339733 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 1048
(Y1048C)
|
| 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 damaging
Transcript: ENSMUST00000081232
AA Change: Y1048C
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000079991
Gene: ENSMUSG00000034330
AA Change: Y1048C
| 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 |
0.2825 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
100% (64/64) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam1a |
T |
A |
5: 121,657,649 (GRCm39) |
Y548F |
probably benign |
Het |
| Armc9 |
T |
C |
1: 86,127,614 (GRCm39) |
L83P |
probably damaging |
Het |
| BC051665 |
A |
T |
13: 60,932,344 (GRCm39) |
|
probably benign |
Het |
| Casp3 |
A |
G |
8: 47,082,791 (GRCm39) |
N3S |
probably damaging |
Het |
| Ccdc174 |
G |
A |
6: 91,865,070 (GRCm39) |
M109I |
probably benign |
Het |
| Ccr6 |
T |
A |
17: 8,475,073 (GRCm39) |
F93I |
probably damaging |
Het |
| Clvs2 |
T |
C |
10: 33,471,811 (GRCm39) |
S165G |
probably damaging |
Het |
| Cntnap5c |
T |
C |
17: 58,320,941 (GRCm39) |
V171A |
probably benign |
Het |
| Dennd5a |
C |
A |
7: 109,504,327 (GRCm39) |
|
probably null |
Het |
| Dock2 |
T |
A |
11: 34,586,044 (GRCm39) |
Y546F |
probably benign |
Het |
| Fat2 |
A |
G |
11: 55,158,401 (GRCm39) |
|
probably null |
Het |
| Focad |
T |
A |
4: 88,197,481 (GRCm39) |
Y625N |
unknown |
Het |
| Fyb1 |
A |
G |
15: 6,609,435 (GRCm39) |
K3E |
probably damaging |
Het |
| Gm14496 |
G |
A |
2: 181,633,130 (GRCm39) |
D38N |
probably benign |
Het |
| Gm20403 |
T |
C |
12: 55,033,155 (GRCm39) |
T54A |
probably benign |
Het |
| Gm9830 |
A |
G |
9: 44,375,556 (GRCm39) |
|
noncoding transcript |
Het |
| Hectd1 |
A |
T |
12: 51,792,277 (GRCm39) |
S2487R |
probably damaging |
Het |
| Il5ra |
A |
G |
6: 106,715,233 (GRCm39) |
L175S |
probably benign |
Het |
| Inhca |
A |
G |
9: 103,136,566 (GRCm39) |
|
probably benign |
Het |
| Itgav |
C |
T |
2: 83,633,599 (GRCm39) |
R983C |
probably damaging |
Het |
| Kcna10 |
T |
C |
3: 107,102,032 (GRCm39) |
V221A |
probably damaging |
Het |
| Kif13b |
G |
A |
14: 64,907,120 (GRCm39) |
V35I |
probably benign |
Het |
| Kif6 |
G |
A |
17: 50,062,258 (GRCm39) |
E473K |
probably damaging |
Het |
| Mfsd14a |
T |
C |
3: 116,426,042 (GRCm39) |
T452A |
probably benign |
Het |
| Mllt1 |
A |
G |
17: 57,204,398 (GRCm39) |
S382P |
probably benign |
Het |
| Myo15b |
T |
C |
11: 115,757,398 (GRCm39) |
W1083R |
probably damaging |
Het |
| Nell2 |
T |
C |
15: 95,333,038 (GRCm39) |
I174V |
probably damaging |
Het |
| Noct |
G |
A |
3: 51,157,117 (GRCm39) |
|
probably null |
Het |
| Nvl |
A |
T |
1: 180,962,639 (GRCm39) |
|
probably benign |
Het |
| Ofcc1 |
T |
C |
13: 40,250,595 (GRCm39) |
S574G |
probably benign |
Het |
| Or10a3m |
G |
A |
7: 108,313,339 (GRCm39) |
V248I |
probably damaging |
Het |
| Or11h4 |
T |
C |
14: 50,973,681 (GRCm39) |
M313V |
probably benign |
Het |
| Or4a75 |
A |
T |
2: 89,447,924 (GRCm39) |
M204K |
possibly damaging |
Het |
| Pip5k1a |
A |
T |
3: 94,972,807 (GRCm39) |
S415T |
probably damaging |
Het |
| Pkhd1 |
G |
A |
1: 20,623,741 (GRCm39) |
P785S |
probably damaging |
Het |
| Ppp3cb |
A |
T |
14: 20,570,720 (GRCm39) |
V337E |
probably benign |
Het |
| Prkg2 |
T |
C |
5: 99,114,368 (GRCm39) |
|
probably benign |
Het |
| Prl7a2 |
T |
G |
13: 27,843,089 (GRCm39) |
Y238S |
probably benign |
Het |
| Psg28 |
T |
A |
7: 18,161,804 (GRCm39) |
D233V |
probably damaging |
Het |
| Rad50 |
A |
G |
11: 53,589,036 (GRCm39) |
C221R |
probably benign |
Het |
| Rgl3 |
A |
G |
9: 21,887,254 (GRCm39) |
|
probably benign |
Het |
| Rgsl1 |
T |
A |
1: 153,701,014 (GRCm39) |
|
probably benign |
Het |
| Ror1 |
C |
A |
4: 100,299,071 (GRCm39) |
R815S |
probably damaging |
Het |
| Rrp1b |
C |
A |
17: 32,275,534 (GRCm39) |
D360E |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,496,680 (GRCm39) |
Q3682R |
possibly damaging |
Het |
| Sdr42e1 |
A |
T |
8: 118,389,616 (GRCm39) |
F342I |
possibly damaging |
Het |
| Setd5 |
A |
G |
6: 113,128,114 (GRCm39) |
R1337G |
probably benign |
Het |
| Siglecf |
T |
C |
7: 43,001,140 (GRCm39) |
V36A |
probably damaging |
Het |
| Slc4a5 |
G |
A |
6: 83,239,542 (GRCm39) |
G152D |
probably damaging |
Het |
| Sptbn4 |
T |
G |
7: 27,063,587 (GRCm39) |
M2280L |
probably benign |
Het |
| Syngr2 |
T |
C |
11: 117,703,406 (GRCm39) |
I74T |
probably damaging |
Het |
| Tm9sf1 |
T |
C |
14: 55,878,866 (GRCm39) |
I175M |
possibly damaging |
Het |
| Tmc3 |
A |
G |
7: 83,258,516 (GRCm39) |
E502G |
probably damaging |
Het |
| Tph1 |
T |
A |
7: 46,311,463 (GRCm39) |
D88V |
possibly damaging |
Het |
| Tpr |
A |
G |
1: 150,295,691 (GRCm39) |
K979E |
possibly damaging |
Het |
| Usp47 |
A |
G |
7: 111,691,934 (GRCm39) |
T799A |
probably benign |
Het |
| Utf1 |
A |
G |
7: 139,523,920 (GRCm39) |
E45G |
possibly damaging |
Het |
| Vmn1r208 |
A |
T |
13: 22,956,772 (GRCm39) |
C242S |
probably damaging |
Het |
| Wrnip1 |
T |
C |
13: 33,004,223 (GRCm39) |
I498T |
probably damaging |
Het |
| Ypel2 |
T |
A |
11: 86,862,699 (GRCm39) |
H18L |
probably benign |
Het |
| Zan |
T |
G |
5: 137,420,110 (GRCm39) |
D2849A |
unknown |
Het |
| Zfp647 |
A |
T |
15: 76,795,860 (GRCm39) |
F267I |
probably damaging |
Het |
| Zfp786 |
G |
T |
6: 47,797,905 (GRCm39) |
H344Q |
possibly damaging |
Het |
| Zswim3 |
G |
T |
2: 164,662,614 (GRCm39) |
A365S |
probably benign |
Het |
| Zswim5 |
T |
C |
4: 116,830,238 (GRCm39) |
W538R |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCTGGAGTCAGATGTCTTTTC -3'
(R):5'- GTGACAGGAAGGGTTTTCAGC -3'
Sequencing Primer
(F):5'- CCAGTCAGTGCAGGAAGGTC -3'
(R):5'- GGGTTTTCAGCCCAGAATGAC -3'
|
| Genotyping |
NOTE: These primers have not been validated. Primer ID: R21760035 R2176:Plcg2 genotyping is performed by amplifying the region containing the mutation using PCR, followed by sequencing of the amplified region to detect the single nucleotide transition.
PCR Primers
R2176:Plcg2(F): 5’- CCCTGGAGTCAGATGTCTTTTC-3’
R2176:Plcg2(R): 5’- GTGACAGGAAGGGTTTTCAGC-3’ Sequencing Primers
R2176:Plcg2_seq(F): 5’- CCAGTCAGTGCAGGAAGGTC-3’
R2176:Plcg2_seq(R): 5’- GGGTTTTCAGCCCAGAATGAC-3’
PCR program
1) 94°C 2:00
2) 94°C 0:30
3) 55°C 0:30
4) 72°C 1:00
5) repeat steps (2-4) 40X
6) 72°C 10:00
7) 4°C ∞ The following sequence of 400 nucleotides is amplified (Chr.8: 117612762-117613161, GRCm38; NC_000074): ccctggagtc agatgtcttt tctgaaccgc ttcccccccc cccccccagt cagtgcagga
aggtcacgtg gcctgtgccc atgtgcgccc ggagctggtg ttccctggct gcccccacag
cgcccttcgg ctctcttttc agacaaatac atgcagatga accacgcgct gttttcgctc
aatgggcgaa caggctacgt cctgcagcct gagagcatgc gctctgagaa gtatgatccg
atgcccctgg agtcccagag gaagatcctg atgacactca ctgtcaaggt agagggggct
ccctgggggg cgctcttgtc ctgttaatcc agcaccatct caactgcaac ctcatgtggt
tcacctgggg tcattctggg ctgaaaaccc ttcctgtcac FASTA sequence Primer binding sites are underlined and the sequencing primer is highlighted; the mutated A is shown in red text.
|
| Posted On |
2014-10-02 |
Incidental Mutation