Incidental Mutation 'IGL02232:Plcl2'
| ID |
285751 |
| 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 # |
IGL02232
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
50816431-50995512 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 50913669 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 226
(N226S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046584
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043938]
|
| AlphaFold |
Q8K394 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043938
AA Change: N226S
PolyPhen 2
Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000046584
Gene: ENSMUSG00000038910
AA Change: N226S
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810030O07Rik |
A |
G |
X: 12,530,764 (GRCm39) |
V199A |
possibly damaging |
Het |
| Aco1 |
T |
C |
4: 40,175,996 (GRCm39) |
M210T |
probably damaging |
Het |
| Actr10 |
G |
A |
12: 70,990,289 (GRCm39) |
E114K |
probably benign |
Het |
| Adam6b |
T |
C |
12: 113,454,764 (GRCm39) |
M527T |
probably benign |
Het |
| Ahi1 |
C |
T |
10: 20,857,274 (GRCm39) |
T623M |
probably damaging |
Het |
| Aldh8a1 |
T |
C |
10: 21,271,545 (GRCm39) |
W424R |
probably damaging |
Het |
| Apeh |
A |
T |
9: 107,969,071 (GRCm39) |
S299T |
probably benign |
Het |
| Bbs5 |
A |
C |
2: 69,485,895 (GRCm39) |
I147L |
probably benign |
Het |
| Bmp2k |
T |
G |
5: 97,179,109 (GRCm39) |
|
probably benign |
Het |
| C2cd6 |
A |
G |
1: 59,101,651 (GRCm39) |
F336S |
probably damaging |
Het |
| Cd274 |
T |
A |
19: 29,359,938 (GRCm39) |
L248M |
probably damaging |
Het |
| Chsy3 |
T |
A |
18: 59,542,383 (GRCm39) |
M507K |
possibly damaging |
Het |
| Clip2 |
T |
C |
5: 134,531,984 (GRCm39) |
N572S |
probably damaging |
Het |
| Commd9 |
A |
G |
2: 101,731,324 (GRCm39) |
T170A |
probably benign |
Het |
| Cpt1c |
G |
A |
7: 44,609,580 (GRCm39) |
S674L |
probably damaging |
Het |
| Dhx33 |
C |
A |
11: 70,878,030 (GRCm39) |
R671L |
probably damaging |
Het |
| Dnah5 |
G |
A |
15: 28,299,386 (GRCm39) |
E1583K |
probably damaging |
Het |
| Eed |
G |
T |
7: 89,621,493 (GRCm39) |
N51K |
probably damaging |
Het |
| Efcab14 |
A |
G |
4: 115,617,261 (GRCm39) |
|
probably benign |
Het |
| Ephb2 |
A |
C |
4: 136,384,762 (GRCm39) |
M884R |
probably damaging |
Het |
| Foxn2 |
G |
T |
17: 88,770,479 (GRCm39) |
A109S |
probably benign |
Het |
| Fut1 |
A |
T |
7: 45,268,871 (GRCm39) |
D220V |
probably damaging |
Het |
| Gm6468 |
C |
T |
5: 95,429,066 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7964 |
A |
T |
7: 83,405,515 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9772 |
C |
T |
17: 22,226,031 (GRCm39) |
|
probably benign |
Het |
| Golph3 |
G |
T |
15: 12,349,578 (GRCm39) |
M199I |
probably benign |
Het |
| Itpr1 |
A |
G |
6: 108,394,884 (GRCm39) |
N1666D |
probably damaging |
Het |
| Itprid1 |
A |
G |
6: 55,944,922 (GRCm39) |
T548A |
unknown |
Het |
| Kif12 |
C |
T |
4: 63,084,732 (GRCm39) |
E529K |
probably benign |
Het |
| Lpp |
C |
T |
16: 24,580,895 (GRCm39) |
R204W |
probably damaging |
Het |
| Lrrc52 |
T |
A |
1: 167,293,949 (GRCm39) |
N112I |
probably damaging |
Het |
| Msi1 |
T |
A |
5: 115,579,506 (GRCm39) |
|
probably null |
Het |
| Nasp |
T |
G |
4: 116,461,997 (GRCm39) |
E170A |
probably damaging |
Het |
| Necab2 |
T |
A |
8: 120,189,391 (GRCm39) |
V187E |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,929,804 (GRCm39) |
E5790G |
probably damaging |
Het |
| Or7e176 |
A |
T |
9: 20,171,511 (GRCm39) |
D125V |
probably damaging |
Het |
| Or9a7 |
A |
G |
6: 40,520,980 (GRCm39) |
L311P |
probably damaging |
Het |
| Pard3b |
C |
T |
1: 62,205,541 (GRCm39) |
T445I |
probably damaging |
Het |
| Pcdh10 |
A |
G |
3: 45,335,377 (GRCm39) |
I564V |
probably benign |
Het |
| Pcdhb22 |
T |
A |
18: 37,653,602 (GRCm39) |
L690Q |
probably damaging |
Het |
| Pemt |
T |
A |
11: 59,867,680 (GRCm39) |
T115S |
probably damaging |
Het |
| Ppp6r1 |
A |
G |
7: 4,636,341 (GRCm39) |
S750P |
probably damaging |
Het |
| Prtg |
T |
C |
9: 72,758,771 (GRCm39) |
V375A |
probably damaging |
Het |
| Psd3 |
A |
C |
8: 68,356,797 (GRCm39) |
M673R |
probably damaging |
Het |
| Ptprt |
T |
C |
2: 161,372,437 (GRCm39) |
I1392V |
probably damaging |
Het |
| Rlf |
G |
A |
4: 121,039,811 (GRCm39) |
T200I |
probably benign |
Het |
| Robo1 |
G |
A |
16: 72,768,872 (GRCm39) |
G479D |
possibly damaging |
Het |
| Rpe65 |
A |
G |
3: 159,309,988 (GRCm39) |
D87G |
possibly damaging |
Het |
| Sema3g |
T |
C |
14: 30,943,181 (GRCm39) |
V148A |
probably damaging |
Het |
| Sgms2 |
G |
A |
3: 131,116,833 (GRCm39) |
P341S |
probably benign |
Het |
| Skint7 |
A |
T |
4: 111,839,225 (GRCm39) |
Q173L |
possibly damaging |
Het |
| Slc2a9 |
G |
A |
5: 38,594,013 (GRCm39) |
A150V |
probably benign |
Het |
| Slc35c2 |
A |
G |
2: 165,124,801 (GRCm39) |
L58P |
probably damaging |
Het |
| Slc7a6 |
G |
A |
8: 106,923,206 (GRCm39) |
C495Y |
possibly damaging |
Het |
| Smurf1 |
G |
A |
5: 144,823,248 (GRCm39) |
P458L |
probably damaging |
Het |
| Spag1 |
C |
T |
15: 36,221,710 (GRCm39) |
T601I |
probably benign |
Het |
| Spink8 |
A |
T |
9: 109,649,665 (GRCm39) |
Q49L |
possibly damaging |
Het |
| Spout1 |
A |
T |
2: 30,065,266 (GRCm39) |
Y284N |
probably damaging |
Het |
| Srrm1 |
A |
T |
4: 135,080,427 (GRCm39) |
M1K |
probably null |
Het |
| Stxbp5l |
A |
G |
16: 37,150,257 (GRCm39) |
L116P |
probably damaging |
Het |
| Tlr9 |
T |
C |
9: 106,102,136 (GRCm39) |
F476L |
probably damaging |
Het |
| Tmem41b |
A |
G |
7: 109,577,960 (GRCm39) |
V108A |
probably damaging |
Het |
| Tra2b |
A |
G |
16: 22,067,790 (GRCm39) |
|
probably benign |
Het |
| Trio |
G |
T |
15: 27,902,647 (GRCm39) |
H271Q |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,723,263 (GRCm39) |
|
probably benign |
Het |
| Usp51 |
A |
T |
X: 151,791,669 (GRCm39) |
H421L |
probably damaging |
Het |
| Vmn2r29 |
A |
T |
7: 7,244,810 (GRCm39) |
W355R |
probably damaging |
Het |
| Vpreb1a |
T |
C |
16: 16,686,603 (GRCm39) |
N96D |
possibly damaging |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
| Zp3r |
C |
A |
1: 130,524,404 (GRCm39) |
C213F |
probably damaging |
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 |
|
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 |
Incidental Mutation