Incidental Mutation 'IGL02227:Plcl2'
ID |
285630 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL02227
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
50816431-50995512 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 50913425 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Phenylalanine
at position 145
(V145F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046584
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043938]
|
AlphaFold |
Q8K394 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000043938
AA Change: V145F
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000046584 Gene: ENSMUSG00000038910 AA Change: V145F
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 |
|
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl1 |
A |
G |
8: 46,987,402 (GRCm39) |
E662G |
probably benign |
Het |
Acss3 |
A |
G |
10: 106,881,196 (GRCm39) |
S262P |
probably benign |
Het |
Agap1 |
T |
C |
1: 89,591,497 (GRCm39) |
V263A |
probably damaging |
Het |
Ap3b2 |
A |
G |
7: 81,123,152 (GRCm39) |
L454P |
probably damaging |
Het |
Arrdc1 |
A |
T |
2: 24,816,164 (GRCm39) |
F280I |
possibly damaging |
Het |
Atp8b1 |
G |
T |
18: 64,695,261 (GRCm39) |
H485N |
probably benign |
Het |
Atrip |
A |
G |
9: 108,890,732 (GRCm39) |
S91P |
possibly damaging |
Het |
Bcorl1 |
T |
C |
X: 47,458,237 (GRCm39) |
V590A |
probably benign |
Het |
Brf1 |
C |
A |
12: 112,925,394 (GRCm39) |
R590S |
probably damaging |
Het |
Ccdc18 |
A |
T |
5: 108,296,788 (GRCm39) |
D197V |
possibly damaging |
Het |
Ccr6 |
T |
C |
17: 8,475,284 (GRCm39) |
V163A |
probably damaging |
Het |
Cct6b |
T |
C |
11: 82,632,217 (GRCm39) |
E257G |
probably damaging |
Het |
Cdc42bpa |
A |
G |
1: 179,921,989 (GRCm39) |
D564G |
possibly damaging |
Het |
Cdh2 |
C |
T |
18: 16,762,643 (GRCm39) |
V434I |
probably benign |
Het |
Cfap410 |
A |
G |
10: 77,818,784 (GRCm39) |
N152D |
possibly damaging |
Het |
Cltc |
C |
T |
11: 86,588,166 (GRCm39) |
V1610M |
possibly damaging |
Het |
Cnot4 |
A |
G |
6: 35,028,198 (GRCm39) |
F473L |
probably benign |
Het |
Dock3 |
T |
C |
9: 106,939,254 (GRCm39) |
K165E |
probably damaging |
Het |
Duox2 |
A |
T |
2: 122,115,634 (GRCm39) |
|
probably benign |
Het |
Epha7 |
A |
G |
4: 28,821,587 (GRCm39) |
S251G |
possibly damaging |
Het |
Epn1 |
T |
A |
7: 5,098,035 (GRCm39) |
V282E |
probably benign |
Het |
Fat1 |
T |
C |
8: 45,476,696 (GRCm39) |
L1914P |
probably damaging |
Het |
Fbln2 |
T |
C |
6: 91,233,349 (GRCm39) |
I611T |
possibly damaging |
Het |
Fgd6 |
G |
T |
10: 93,969,946 (GRCm39) |
M1198I |
probably damaging |
Het |
Frmpd4 |
T |
A |
X: 166,275,931 (GRCm39) |
I379F |
probably damaging |
Het |
Grk4 |
T |
A |
5: 34,852,126 (GRCm39) |
D123E |
probably benign |
Het |
Hc |
T |
G |
2: 34,899,923 (GRCm39) |
|
probably benign |
Het |
Hephl1 |
T |
C |
9: 14,981,089 (GRCm39) |
Y781C |
probably damaging |
Het |
Hfe |
T |
C |
13: 23,890,926 (GRCm39) |
E71G |
probably benign |
Het |
Hk1 |
A |
G |
10: 62,116,919 (GRCm39) |
|
probably benign |
Het |
Ifnk |
G |
A |
4: 35,152,642 (GRCm39) |
|
probably benign |
Het |
Kcnv1 |
C |
A |
15: 44,977,670 (GRCm39) |
G123C |
probably damaging |
Het |
Klhl38 |
A |
T |
15: 58,186,633 (GRCm39) |
I32N |
possibly damaging |
Het |
Lpl |
T |
C |
8: 69,348,452 (GRCm39) |
V227A |
probably damaging |
Het |
Lurap1l |
A |
T |
4: 80,872,094 (GRCm39) |
S196C |
probably damaging |
Het |
Mta1 |
T |
C |
12: 113,084,528 (GRCm39) |
L91P |
possibly damaging |
Het |
Nelfe |
C |
A |
17: 35,073,330 (GRCm39) |
D288E |
probably benign |
Het |
Or5p1 |
T |
A |
7: 107,916,408 (GRCm39) |
C102* |
probably null |
Het |
Otof |
T |
C |
5: 30,528,128 (GRCm39) |
E1905G |
probably damaging |
Het |
Pck2 |
T |
C |
14: 55,781,323 (GRCm39) |
I148T |
probably benign |
Het |
Plec |
A |
G |
15: 76,056,474 (GRCm39) |
S4510P |
probably damaging |
Het |
Plxna2 |
A |
G |
1: 194,434,397 (GRCm39) |
E641G |
probably damaging |
Het |
Poglut3 |
T |
C |
9: 53,299,779 (GRCm39) |
L96S |
probably damaging |
Het |
Ppp1r12a |
C |
T |
10: 108,105,185 (GRCm39) |
T434M |
probably damaging |
Het |
Ppp6r3 |
A |
T |
19: 3,568,245 (GRCm39) |
N184K |
possibly damaging |
Het |
Prkar1a |
G |
A |
11: 109,551,001 (GRCm39) |
|
probably benign |
Het |
Psmb1 |
A |
T |
17: 15,710,546 (GRCm39) |
M1K |
probably null |
Het |
Pwwp2a |
T |
C |
11: 43,596,448 (GRCm39) |
S538P |
possibly damaging |
Het |
Rbm25 |
C |
T |
12: 83,719,527 (GRCm39) |
R516W |
probably damaging |
Het |
Rnf103 |
A |
G |
6: 71,487,172 (GRCm39) |
D601G |
probably benign |
Het |
Senp3 |
A |
G |
11: 69,565,356 (GRCm39) |
V467A |
possibly damaging |
Het |
Slc8a3 |
T |
G |
12: 81,362,457 (GRCm39) |
T121P |
probably damaging |
Het |
Slco1a8 |
A |
T |
6: 141,939,401 (GRCm39) |
C197* |
probably null |
Het |
Srrt |
G |
A |
5: 137,294,536 (GRCm39) |
T790M |
probably damaging |
Het |
Ssc5d |
T |
C |
7: 4,936,453 (GRCm39) |
|
probably null |
Het |
Tas2r129 |
G |
A |
6: 132,928,357 (GRCm39) |
W98* |
probably null |
Het |
Thoc5 |
A |
C |
11: 4,876,217 (GRCm39) |
M609L |
probably benign |
Het |
Tnip1 |
G |
A |
11: 54,827,297 (GRCm39) |
T155M |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,618,672 (GRCm39) |
V14458A |
probably benign |
Het |
Unc5cl |
A |
G |
17: 48,766,809 (GRCm39) |
E61G |
probably benign |
Het |
Usp32 |
T |
C |
11: 84,877,307 (GRCm39) |
K151E |
probably damaging |
Het |
Vmn2r121 |
T |
C |
X: 123,042,378 (GRCm39) |
M260V |
probably benign |
Het |
Vwa7 |
G |
T |
17: 35,239,060 (GRCm39) |
R345L |
probably damaging |
Het |
Zfp366 |
G |
T |
13: 99,370,696 (GRCm39) |
R472L |
possibly damaging |
Het |
Zfp811 |
A |
T |
17: 33,017,616 (GRCm39) |
Y141* |
probably null |
Het |
Zpbp |
C |
T |
11: 11,365,248 (GRCm39) |
E200K |
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 |
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 |
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 |
|
Posted On |
2015-04-16 |