Incidental Mutation 'R2077:Plcl2'
| ID |
229244 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcl2
|
| Ensembl Gene |
ENSMUSG00000038910 |
| Gene Name |
phospholipase C-like 2 |
| Synonyms |
Plce2, PRIP-2 |
| MMRRC Submission |
040082-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.221)
|
| Stock # |
R2077 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
50816431-50995512 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 50913857 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 289
(T289A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046584
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043938]
|
| AlphaFold |
Q8K394 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043938
AA Change: T289A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000046584
Gene: ENSMUSG00000038910
AA Change: T289A
| 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 |
0.0704 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
98% (48/49) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl3 |
T |
A |
4: 144,183,604 (GRCm39) |
|
probably benign |
Het |
| Abhd16b |
A |
C |
2: 181,135,209 (GRCm39) |
D37A |
probably benign |
Het |
| Acp7 |
T |
C |
7: 28,328,907 (GRCm39) |
E91G |
probably damaging |
Het |
| Alms1 |
T |
A |
6: 85,599,291 (GRCm39) |
N1841K |
possibly damaging |
Het |
| Arhgap25 |
T |
A |
6: 87,436,990 (GRCm39) |
D620V |
probably damaging |
Het |
| Caps2 |
C |
T |
10: 112,035,632 (GRCm39) |
T371I |
possibly damaging |
Het |
| Ccdc175 |
A |
G |
12: 72,186,794 (GRCm39) |
I350T |
possibly damaging |
Het |
| Cdc25c |
G |
C |
18: 34,871,292 (GRCm39) |
L275V |
probably damaging |
Het |
| Cdc42bpb |
A |
G |
12: 111,265,630 (GRCm39) |
L1434P |
probably damaging |
Het |
| Cdkl3 |
A |
T |
11: 51,917,666 (GRCm39) |
E321V |
probably damaging |
Het |
| Clec2d |
G |
T |
6: 129,160,153 (GRCm39) |
V56L |
possibly damaging |
Het |
| Cops3 |
A |
T |
11: 59,715,136 (GRCm39) |
S301T |
possibly damaging |
Het |
| Crygd |
T |
C |
1: 65,102,405 (GRCm39) |
D19G |
probably damaging |
Het |
| Dnah2 |
T |
C |
11: 69,387,432 (GRCm39) |
I931M |
possibly damaging |
Het |
| Dst |
A |
T |
1: 34,250,251 (GRCm39) |
R4068S |
probably damaging |
Het |
| Fas |
C |
T |
19: 34,297,953 (GRCm39) |
|
probably benign |
Het |
| G6pd2 |
T |
A |
5: 61,967,594 (GRCm39) |
D456E |
probably damaging |
Het |
| Galnt18 |
G |
A |
7: 111,153,809 (GRCm39) |
R272W |
probably damaging |
Het |
| Grb2 |
C |
A |
11: 115,536,651 (GRCm39) |
G200W |
probably damaging |
Het |
| Herc4 |
A |
G |
10: 63,099,832 (GRCm39) |
N85S |
probably benign |
Het |
| Ighv7-2 |
T |
C |
12: 113,875,727 (GRCm39) |
D92G |
probably damaging |
Het |
| Itih3 |
A |
G |
14: 30,631,792 (GRCm39) |
V765A |
possibly damaging |
Het |
| Itm2b |
T |
C |
14: 73,600,560 (GRCm39) |
N247D |
probably benign |
Het |
| Kcnd3 |
T |
C |
3: 105,574,315 (GRCm39) |
V500A |
probably benign |
Het |
| Lrp2 |
C |
T |
2: 69,338,187 (GRCm39) |
G1198R |
probably damaging |
Het |
| Ltb4r2 |
A |
G |
14: 55,999,444 (GRCm39) |
T22A |
probably damaging |
Het |
| Mdga2 |
A |
G |
12: 66,702,136 (GRCm39) |
V355A |
probably damaging |
Het |
| Megf8 |
T |
A |
7: 25,053,163 (GRCm39) |
V1778E |
probably benign |
Het |
| Mroh2b |
G |
A |
15: 4,974,448 (GRCm39) |
E1143K |
probably damaging |
Het |
| Nbn |
A |
T |
4: 15,979,389 (GRCm39) |
Y458F |
probably damaging |
Het |
| Nlrc3 |
A |
G |
16: 3,781,856 (GRCm39) |
C534R |
probably benign |
Het |
| Nup155 |
A |
G |
15: 8,172,510 (GRCm39) |
E832G |
probably damaging |
Het |
| Or5w11 |
A |
G |
2: 87,459,173 (GRCm39) |
Y122C |
probably damaging |
Het |
| Ptprs |
C |
T |
17: 56,741,990 (GRCm39) |
R7Q |
probably null |
Het |
| Rab3ip |
A |
T |
10: 116,754,865 (GRCm39) |
D198E |
possibly damaging |
Het |
| Scaf4 |
A |
T |
16: 90,049,323 (GRCm39) |
F255I |
unknown |
Het |
| Senp6 |
T |
C |
9: 80,033,437 (GRCm39) |
S475P |
probably benign |
Het |
| Shpk |
T |
C |
11: 73,094,785 (GRCm39) |
L67P |
probably damaging |
Het |
| Sik3 |
T |
A |
9: 46,130,801 (GRCm39) |
Y1246N |
probably damaging |
Het |
| Slc44a2 |
A |
G |
9: 21,265,020 (GRCm39) |
Y686C |
probably damaging |
Het |
| Slc6a19 |
A |
G |
13: 73,848,685 (GRCm39) |
V23A |
probably benign |
Het |
| Slit3 |
A |
T |
11: 35,435,575 (GRCm39) |
I169F |
possibly damaging |
Het |
| Stxbp5l |
A |
G |
16: 37,056,637 (GRCm39) |
V379A |
possibly damaging |
Het |
| Tex2 |
T |
C |
11: 106,397,690 (GRCm39) |
|
probably null |
Het |
| Tnpo3 |
A |
G |
6: 29,586,143 (GRCm39) |
V149A |
possibly damaging |
Het |
| Vmn1r158 |
T |
A |
7: 22,489,815 (GRCm39) |
R131S |
probably benign |
Het |
| Vmn2r24 |
T |
A |
6: 123,792,358 (GRCm39) |
C562S |
probably damaging |
Het |
| Wipi1 |
T |
C |
11: 109,468,490 (GRCm39) |
N368S |
probably benign |
Het |
| Zbtb41 |
T |
C |
1: 139,351,831 (GRCm39) |
S315P |
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 |
|
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 |
|
|
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'- GGTTGCCAATTCTGCAGATG -3'
(R):5'- CAAGAAACATCATAAGGTCCTTGG -3'
Sequencing Primer
(F):5'- GTTGCAAACATCTGGGTGAC -3'
(R):5'- CTTGGTATCAAGGAATTCTTTATTGC -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation