Incidental Mutation 'R0414:Plcl2'
ID |
40192 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plcl2
|
Ensembl Gene |
ENSMUSG00000038910 |
Gene Name |
phospholipase C-like 2 |
Synonyms |
Plce2, PRIP-2 |
MMRRC Submission |
038616-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.221)
|
Stock # |
R0414 (G1)
|
Quality Score |
204 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
50816431-50995512 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 50914983 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Alanine
at position 664
(D664A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046584
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043938]
|
AlphaFold |
Q8K394 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043938
AA Change: D664A
PolyPhen 2
Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000046584 Gene: ENSMUSG00000038910 AA Change: D664A
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
49 |
N/A |
INTRINSIC |
PH
|
143 |
254 |
2.88e-5 |
SMART |
Pfam:EF-hand_like
|
344 |
426 |
3.7e-29 |
PFAM |
PLCXc
|
427 |
571 |
2.19e-84 |
SMART |
PLCYc
|
619 |
735 |
4.37e-61 |
SMART |
C2
|
756 |
862 |
3.45e-19 |
SMART |
|
Meta Mutation Damage Score |
0.3694 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.6%
|
Validation Efficiency |
96% (64/67) |
MGI Phenotype |
PHENOTYPE: Inactivation of this gene is compatible with normal immune cell development, though the B cell response is dysregulated. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700016H13Rik |
A |
T |
5: 103,797,356 (GRCm39) |
V51E |
probably benign |
Het |
Abo |
T |
C |
2: 26,733,428 (GRCm39) |
Y259C |
probably damaging |
Het |
Adamts5 |
A |
G |
16: 85,674,794 (GRCm39) |
S457P |
probably damaging |
Het |
Alk |
G |
T |
17: 72,206,281 (GRCm39) |
|
probably benign |
Het |
Alpk2 |
A |
G |
18: 65,439,230 (GRCm39) |
I1188T |
probably benign |
Het |
Ambra1 |
T |
C |
2: 91,706,084 (GRCm39) |
S730P |
possibly damaging |
Het |
Arhgef2 |
T |
C |
3: 88,539,575 (GRCm39) |
|
probably benign |
Het |
Atpsckmt |
T |
A |
15: 31,617,148 (GRCm39) |
Y126* |
probably null |
Het |
B3gnt7 |
T |
C |
1: 86,233,351 (GRCm39) |
I82T |
probably damaging |
Het |
B4galnt3 |
T |
C |
6: 120,193,526 (GRCm39) |
D400G |
probably benign |
Het |
Bag4 |
A |
G |
8: 26,258,025 (GRCm39) |
V434A |
possibly damaging |
Het |
Cfap251 |
A |
G |
5: 123,425,476 (GRCm39) |
|
probably null |
Het |
Cfc1 |
A |
G |
1: 34,576,409 (GRCm39) |
D130G |
probably damaging |
Het |
Chd4 |
T |
C |
6: 125,084,443 (GRCm39) |
Y692H |
probably damaging |
Het |
Cilp2 |
A |
G |
8: 70,335,643 (GRCm39) |
S452P |
probably benign |
Het |
Clec2m |
T |
C |
6: 129,303,813 (GRCm39) |
|
probably benign |
Het |
Crybg2 |
GAGAAGAAG |
GAGAAG |
4: 133,799,947 (GRCm39) |
|
probably benign |
Het |
Dnah2 |
T |
C |
11: 69,390,064 (GRCm39) |
D727G |
probably benign |
Het |
Dock10 |
C |
A |
1: 80,513,650 (GRCm39) |
V1129F |
possibly damaging |
Het |
Dsc1 |
A |
T |
18: 20,221,411 (GRCm39) |
I688N |
possibly damaging |
Het |
Dyrk1a |
C |
G |
16: 94,464,701 (GRCm39) |
T103R |
probably damaging |
Het |
Ebf1 |
C |
T |
11: 44,815,297 (GRCm39) |
R304* |
probably null |
Het |
Eif2s2 |
A |
G |
2: 154,726,381 (GRCm39) |
|
probably benign |
Het |
Endov |
T |
G |
11: 119,390,397 (GRCm39) |
Y8* |
probably null |
Het |
Eps15 |
T |
A |
4: 109,223,677 (GRCm39) |
D485E |
probably damaging |
Het |
Fam118a |
C |
A |
15: 84,929,890 (GRCm39) |
S39R |
probably damaging |
Het |
Fbxo22 |
T |
A |
9: 55,130,910 (GRCm39) |
M393K |
possibly damaging |
Het |
Firrm |
T |
C |
1: 163,795,890 (GRCm39) |
I434V |
probably benign |
Het |
Gab1 |
A |
G |
8: 81,526,918 (GRCm39) |
I60T |
probably damaging |
Het |
Gapvd1 |
A |
G |
2: 34,583,439 (GRCm39) |
L1059P |
probably benign |
Het |
Gbp5 |
A |
G |
3: 142,213,674 (GRCm39) |
|
probably null |
Het |
Glb1l2 |
T |
A |
9: 26,676,400 (GRCm39) |
K487* |
probably null |
Het |
H1f1 |
A |
G |
13: 23,948,141 (GRCm39) |
|
probably benign |
Het |
Hmcn1 |
T |
C |
1: 150,591,573 (GRCm39) |
I1875M |
possibly damaging |
Het |
Jkamp |
T |
C |
12: 72,140,919 (GRCm39) |
|
probably null |
Het |
Kprp |
C |
T |
3: 92,733,020 (GRCm39) |
C10Y |
probably damaging |
Het |
Lrig2 |
A |
G |
3: 104,401,372 (GRCm39) |
|
probably null |
Het |
Lrrn3 |
T |
A |
12: 41,503,939 (GRCm39) |
N126I |
probably damaging |
Het |
Mug1 |
T |
C |
6: 121,833,513 (GRCm39) |
F325L |
probably benign |
Het |
Myadm |
AC |
ACC |
7: 3,345,276 (GRCm39) |
|
probably null |
Het |
Nagk |
C |
T |
6: 83,774,249 (GRCm39) |
R87* |
probably null |
Het |
Nipal4 |
T |
A |
11: 46,052,735 (GRCm39) |
I77F |
probably damaging |
Het |
Or4c112 |
A |
G |
2: 88,853,490 (GRCm39) |
Y286H |
probably damaging |
Het |
Osbp2 |
T |
C |
11: 3,769,932 (GRCm39) |
H250R |
probably damaging |
Het |
Pcx |
T |
C |
19: 4,657,670 (GRCm39) |
V378A |
possibly damaging |
Het |
Pfkp |
T |
A |
13: 6,643,246 (GRCm39) |
H524L |
probably benign |
Het |
Picalm |
A |
T |
7: 89,838,406 (GRCm39) |
N370I |
possibly damaging |
Het |
Ptpn5 |
G |
A |
7: 46,732,884 (GRCm39) |
P320S |
probably benign |
Het |
Scn3a |
T |
A |
2: 65,356,326 (GRCm39) |
|
probably benign |
Het |
Sfswap |
A |
G |
5: 129,581,115 (GRCm39) |
D96G |
possibly damaging |
Het |
Slfn1 |
A |
G |
11: 83,012,096 (GRCm39) |
I71V |
probably benign |
Het |
Spata1 |
A |
G |
3: 146,181,943 (GRCm39) |
|
probably null |
Het |
Stx18 |
T |
C |
5: 38,262,349 (GRCm39) |
|
probably benign |
Het |
Suox |
T |
A |
10: 128,507,326 (GRCm39) |
H234L |
probably benign |
Het |
Tbc1d17 |
T |
C |
7: 44,495,483 (GRCm39) |
S114G |
probably benign |
Het |
Tfeb |
T |
A |
17: 48,099,224 (GRCm39) |
|
probably null |
Het |
Tnks |
A |
C |
8: 35,320,463 (GRCm39) |
V736G |
probably damaging |
Het |
Wdhd1 |
T |
C |
14: 47,514,045 (GRCm39) |
T4A |
probably benign |
Het |
|
Other mutations in Plcl2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00927:Plcl2
|
APN |
17 |
50,913,948 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01746:Plcl2
|
APN |
17 |
50,914,724 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02227:Plcl2
|
APN |
17 |
50,913,425 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02232:Plcl2
|
APN |
17 |
50,913,669 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL02878:Plcl2
|
APN |
17 |
50,914,383 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02985:Plcl2
|
APN |
17 |
50,994,842 (GRCm39) |
nonsense |
probably null |
|
acerbic
|
UTSW |
17 |
50,915,141 (GRCm39) |
missense |
probably damaging |
1.00 |
Balsamic
|
UTSW |
17 |
50,914,689 (GRCm39) |
missense |
probably damaging |
1.00 |
Bastante
|
UTSW |
17 |
50,913,389 (GRCm39) |
nonsense |
probably null |
|
italietta
|
UTSW |
17 |
50,915,790 (GRCm39) |
missense |
probably damaging |
1.00 |
Oxalic
|
UTSW |
17 |
50,915,127 (GRCm39) |
missense |
probably damaging |
1.00 |
Parece
|
UTSW |
17 |
50,914,874 (GRCm39) |
missense |
probably damaging |
0.99 |
picolinic
|
UTSW |
17 |
50,975,188 (GRCm39) |
splice site |
probably null |
|
ranch
|
UTSW |
17 |
50,816,957 (GRCm39) |
missense |
probably benign |
0.00 |
verdad
|
UTSW |
17 |
50,915,109 (GRCm39) |
missense |
probably damaging |
1.00 |
vinagrette
|
UTSW |
17 |
50,913,884 (GRCm39) |
nonsense |
probably null |
|
BB007:Plcl2
|
UTSW |
17 |
50,913,831 (GRCm39) |
missense |
probably benign |
|
BB017:Plcl2
|
UTSW |
17 |
50,913,831 (GRCm39) |
missense |
probably benign |
|
IGL03014:Plcl2
|
UTSW |
17 |
50,918,029 (GRCm39) |
missense |
possibly damaging |
0.65 |
R0110:Plcl2
|
UTSW |
17 |
50,915,010 (GRCm39) |
missense |
probably damaging |
1.00 |
R0190:Plcl2
|
UTSW |
17 |
50,914,671 (GRCm39) |
missense |
probably benign |
|
R0280:Plcl2
|
UTSW |
17 |
50,914,062 (GRCm39) |
missense |
probably damaging |
1.00 |
R0450:Plcl2
|
UTSW |
17 |
50,915,010 (GRCm39) |
missense |
probably damaging |
1.00 |
R0760:Plcl2
|
UTSW |
17 |
50,915,802 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1134:Plcl2
|
UTSW |
17 |
50,915,138 (GRCm39) |
missense |
probably benign |
|
R1168:Plcl2
|
UTSW |
17 |
50,914,100 (GRCm39) |
missense |
possibly damaging |
0.49 |
R1381:Plcl2
|
UTSW |
17 |
50,914,757 (GRCm39) |
missense |
probably damaging |
0.99 |
R1748:Plcl2
|
UTSW |
17 |
50,913,826 (GRCm39) |
missense |
probably benign |
|
R1856:Plcl2
|
UTSW |
17 |
50,914,878 (GRCm39) |
missense |
probably benign |
0.13 |
R1958:Plcl2
|
UTSW |
17 |
50,915,109 (GRCm39) |
missense |
probably damaging |
1.00 |
R2016:Plcl2
|
UTSW |
17 |
50,913,722 (GRCm39) |
missense |
probably damaging |
1.00 |
R2057:Plcl2
|
UTSW |
17 |
50,975,139 (GRCm39) |
splice site |
probably null |
|
R2077:Plcl2
|
UTSW |
17 |
50,913,857 (GRCm39) |
missense |
probably benign |
|
R2247:Plcl2
|
UTSW |
17 |
50,913,873 (GRCm39) |
missense |
probably damaging |
0.96 |
R3083:Plcl2
|
UTSW |
17 |
50,994,772 (GRCm39) |
missense |
probably benign |
0.06 |
R4153:Plcl2
|
UTSW |
17 |
50,913,389 (GRCm39) |
nonsense |
probably null |
|
R4574:Plcl2
|
UTSW |
17 |
50,914,874 (GRCm39) |
missense |
probably damaging |
0.99 |
R4870:Plcl2
|
UTSW |
17 |
50,914,254 (GRCm39) |
missense |
possibly damaging |
0.46 |
R5030:Plcl2
|
UTSW |
17 |
50,914,347 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5330:Plcl2
|
UTSW |
17 |
50,816,876 (GRCm39) |
missense |
probably benign |
0.01 |
R5331:Plcl2
|
UTSW |
17 |
50,816,876 (GRCm39) |
missense |
probably benign |
0.01 |
R5503:Plcl2
|
UTSW |
17 |
50,816,957 (GRCm39) |
missense |
probably benign |
0.00 |
R5920:Plcl2
|
UTSW |
17 |
50,915,703 (GRCm39) |
missense |
probably damaging |
0.99 |
R6238:Plcl2
|
UTSW |
17 |
50,913,873 (GRCm39) |
missense |
probably damaging |
0.96 |
R6378:Plcl2
|
UTSW |
17 |
50,975,188 (GRCm39) |
splice site |
probably null |
|
R6603:Plcl2
|
UTSW |
17 |
50,914,145 (GRCm39) |
missense |
probably benign |
0.03 |
R6633:Plcl2
|
UTSW |
17 |
50,947,168 (GRCm39) |
missense |
probably benign |
0.00 |
R7113:Plcl2
|
UTSW |
17 |
50,913,492 (GRCm39) |
missense |
probably damaging |
1.00 |
R7466:Plcl2
|
UTSW |
17 |
50,915,496 (GRCm39) |
missense |
probably damaging |
1.00 |
R7665:Plcl2
|
UTSW |
17 |
50,914,185 (GRCm39) |
missense |
probably benign |
0.00 |
R7930:Plcl2
|
UTSW |
17 |
50,913,831 (GRCm39) |
missense |
probably benign |
|
R8114:Plcl2
|
UTSW |
17 |
50,994,815 (GRCm39) |
missense |
probably damaging |
0.97 |
R8152:Plcl2
|
UTSW |
17 |
50,914,689 (GRCm39) |
missense |
probably damaging |
1.00 |
R8208:Plcl2
|
UTSW |
17 |
50,915,343 (GRCm39) |
missense |
probably damaging |
1.00 |
R8853:Plcl2
|
UTSW |
17 |
50,913,884 (GRCm39) |
nonsense |
probably null |
|
R8911:Plcl2
|
UTSW |
17 |
50,915,141 (GRCm39) |
missense |
probably damaging |
1.00 |
R8940:Plcl2
|
UTSW |
17 |
50,915,790 (GRCm39) |
missense |
probably damaging |
1.00 |
R8979:Plcl2
|
UTSW |
17 |
50,947,145 (GRCm39) |
missense |
possibly damaging |
0.64 |
R9127:Plcl2
|
UTSW |
17 |
50,918,032 (GRCm39) |
missense |
probably benign |
0.05 |
R9253:Plcl2
|
UTSW |
17 |
50,915,127 (GRCm39) |
missense |
probably damaging |
1.00 |
R9453:Plcl2
|
UTSW |
17 |
50,915,391 (GRCm39) |
missense |
probably damaging |
1.00 |
R9469:Plcl2
|
UTSW |
17 |
50,913,953 (GRCm39) |
missense |
probably benign |
0.05 |
R9630:Plcl2
|
UTSW |
17 |
50,947,147 (GRCm39) |
missense |
probably benign |
|
X0026:Plcl2
|
UTSW |
17 |
50,914,588 (GRCm39) |
missense |
probably benign |
0.03 |
Z1088:Plcl2
|
UTSW |
17 |
50,914,020 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Plcl2
|
UTSW |
17 |
50,915,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCCAACCATGTGCCTGTGAAG -3'
(R):5'- TGAAGCAACTGAGGTGAAACTCCTG -3'
Sequencing Primer
(F):5'- CCTGTGAAGCGGTTTCAGC -3'
(R):5'- AAGGAGACTTCTTCCCTCATGATG -3'
|
Posted On |
2013-05-23 |