Incidental Mutation 'BB007:Plcl2'
ID |
642441 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plcl2
|
Ensembl Gene |
ENSMUSG00000038910 |
Gene Name |
phospholipase C-like 2 |
Synonyms |
Plce2, PRIP-2 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.221)
|
Stock # |
BB007
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
50816431-50995512 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 50913831 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Serine
at position 280
(I280S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046584
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043938]
|
AlphaFold |
Q8K394 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043938
AA Change: I280S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000046584 Gene: ENSMUSG00000038910 AA Change: I280S
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam20 |
C |
T |
8: 41,250,107 (GRCm39) |
T739I |
probably benign |
Het |
Adam23 |
G |
T |
1: 63,624,586 (GRCm39) |
V805F |
possibly damaging |
Het |
Adamts17 |
A |
T |
7: 66,499,547 (GRCm39) |
R31S |
probably damaging |
Het |
Ano4 |
T |
A |
10: 89,163,138 (GRCm39) |
Y27F |
possibly damaging |
Het |
Bbs2 |
A |
G |
8: 94,796,625 (GRCm39) |
V675A |
probably damaging |
Het |
Brca2 |
A |
G |
5: 150,481,975 (GRCm39) |
E2839G |
probably damaging |
Het |
Capn5 |
C |
T |
7: 97,773,085 (GRCm39) |
V640I |
probably benign |
Het |
Casp4 |
C |
T |
9: 5,321,318 (GRCm39) |
T23M |
probably damaging |
Het |
Cerk |
C |
T |
15: 86,028,920 (GRCm39) |
E379K |
possibly damaging |
Het |
Comp |
G |
A |
8: 70,826,503 (GRCm39) |
G26D |
probably damaging |
Het |
Cpxm1 |
G |
A |
2: 130,236,982 (GRCm39) |
A220V |
possibly damaging |
Het |
Cyp2c69 |
G |
T |
19: 39,831,434 (GRCm39) |
P460T |
possibly damaging |
Het |
Ddx23 |
T |
C |
15: 98,546,504 (GRCm39) |
D555G |
probably damaging |
Het |
E2f6 |
T |
A |
12: 16,869,058 (GRCm39) |
I127K |
probably damaging |
Het |
Efr3a |
T |
A |
15: 65,733,589 (GRCm39) |
D716E |
probably benign |
Het |
Esp16 |
T |
G |
17: 39,850,868 (GRCm39) |
S82R |
possibly damaging |
Het |
Fasn |
A |
C |
11: 120,700,061 (GRCm39) |
S2199A |
probably benign |
Het |
Fscb |
A |
G |
12: 64,519,337 (GRCm39) |
S710P |
unknown |
Het |
Gas7 |
A |
G |
11: 67,556,217 (GRCm39) |
I185M |
probably damaging |
Het |
Glg1 |
A |
T |
8: 111,887,367 (GRCm39) |
L1047I |
possibly damaging |
Het |
Golga5 |
A |
G |
12: 102,450,681 (GRCm39) |
N445D |
probably benign |
Het |
Grin2c |
A |
T |
11: 115,147,063 (GRCm39) |
H377Q |
probably benign |
Het |
Hmgcs1 |
T |
C |
13: 120,161,499 (GRCm39) |
I97T |
possibly damaging |
Het |
Ifi211 |
T |
C |
1: 173,733,769 (GRCm39) |
T131A |
possibly damaging |
Het |
Ifngr1 |
A |
G |
10: 19,484,931 (GRCm39) |
K310R |
probably damaging |
Het |
Il18rap |
T |
C |
1: 40,587,803 (GRCm39) |
V467A |
probably damaging |
Het |
Itgad |
C |
A |
7: 127,782,280 (GRCm39) |
Q239K |
probably benign |
Het |
Jrkl |
T |
C |
9: 13,245,506 (GRCm39) |
I52V |
possibly damaging |
Het |
Kdm6b |
A |
T |
11: 69,290,778 (GRCm39) |
D1630E |
unknown |
Het |
Krt75 |
C |
A |
15: 101,473,318 (GRCm39) |
*552L |
probably null |
Het |
Mbd2 |
A |
G |
18: 70,701,948 (GRCm39) |
D154G |
probably damaging |
Het |
Mutyh |
A |
T |
4: 116,674,153 (GRCm39) |
N235Y |
probably benign |
Het |
Myo5b |
A |
G |
18: 74,864,825 (GRCm39) |
T1348A |
probably benign |
Het |
Ndufs7 |
T |
C |
10: 80,089,619 (GRCm39) |
|
probably null |
Het |
Nup205 |
T |
G |
6: 35,171,511 (GRCm39) |
M458R |
probably damaging |
Het |
Or1e32 |
A |
C |
11: 73,705,926 (GRCm39) |
|
probably benign |
Het |
Or1j4 |
G |
T |
2: 36,740,285 (GRCm39) |
V76F |
probably damaging |
Het |
Or2at1 |
A |
T |
7: 99,416,803 (GRCm39) |
T145S |
probably benign |
Het |
Or5b119 |
G |
A |
19: 13,457,019 (GRCm39) |
P181L |
probably damaging |
Het |
Or6b2 |
T |
A |
1: 92,407,570 (GRCm39) |
M258L |
probably benign |
Het |
Or8b101 |
A |
G |
9: 38,020,264 (GRCm39) |
N89S |
possibly damaging |
Het |
Or8k25 |
T |
A |
2: 86,243,560 (GRCm39) |
T279S |
probably damaging |
Het |
Ppargc1a |
A |
T |
5: 51,630,264 (GRCm39) |
Y618N |
unknown |
Het |
Rab43 |
A |
T |
6: 87,788,348 (GRCm39) |
I60N |
probably damaging |
Het |
Rnf126 |
A |
T |
10: 79,596,726 (GRCm39) |
C231S |
probably damaging |
Het |
Rnf220 |
T |
A |
4: 117,164,787 (GRCm39) |
E238D |
probably damaging |
Het |
Scn9a |
A |
T |
2: 66,335,193 (GRCm39) |
D1265E |
probably damaging |
Het |
Sntb2 |
T |
A |
8: 107,728,269 (GRCm39) |
S406T |
probably damaging |
Het |
Sos1 |
T |
C |
17: 80,714,267 (GRCm39) |
I1068V |
probably benign |
Het |
Spart |
A |
G |
3: 55,035,697 (GRCm39) |
K519E |
probably damaging |
Het |
Tlx3 |
A |
T |
11: 33,153,058 (GRCm39) |
F134L |
probably damaging |
Het |
Trbj1-2 |
A |
T |
6: 41,510,964 (GRCm39) |
T10S |
|
Het |
Txk |
A |
C |
5: 72,892,536 (GRCm39) |
L33R |
probably damaging |
Het |
Ulk2 |
A |
G |
11: 61,682,258 (GRCm39) |
|
probably null |
Het |
Usp20 |
T |
C |
2: 30,900,556 (GRCm39) |
S357P |
probably benign |
Het |
Wac |
T |
A |
18: 7,921,560 (GRCm39) |
N565K |
possibly damaging |
Het |
Zfp1007 |
A |
T |
5: 109,823,622 (GRCm39) |
C609* |
probably null |
Het |
Zfp709 |
G |
T |
8: 72,644,684 (GRCm39) |
K704N |
probably damaging |
Het |
Zfp788 |
C |
T |
7: 41,299,049 (GRCm39) |
Q562* |
probably null |
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 |
|
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 |
R0414:Plcl2
|
UTSW |
17 |
50,914,983 (GRCm39) |
missense |
possibly damaging |
0.90 |
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'- TCTGAGCAGATCTCTGAAGATTGTG -3'
(R):5'- CCCTGTTCTGCCTCAAGAAAC -3'
Sequencing Primer
(F):5'- CTCTGAAGATTGTGCATTTTCAGTC -3'
(R):5'- CTCAAGAAACATCATAAGGTCCTTGG -3'
|
Posted On |
2020-08-01 |