Incidental Mutation 'R0280:Plcl2'
| ID |
37481 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcl2
|
| Ensembl Gene |
ENSMUSG00000038910 |
| Gene Name |
phospholipase C-like 2 |
| Synonyms |
Plce2, PRIP-2 |
| MMRRC Submission |
038502-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.251)
|
| Stock # |
R0280 (G1)
|
| Quality Score |
208 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
50816431-50995512 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 50914062 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 357
(E357G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046584
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043938]
|
| AlphaFold |
Q8K394 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043938
AA Change: E357G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000046584
Gene: ENSMUSG00000038910
AA Change: E357G
| 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 |
0.2334 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.6%
|
| Validation Efficiency |
96% (55/57) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg3 |
T |
A |
17: 57,192,169 (GRCm39) |
Y577* |
probably null |
Het |
| Adam18 |
C |
T |
8: 25,164,070 (GRCm39) |
G38R |
probably benign |
Het |
| Ankrd16 |
T |
G |
2: 11,786,312 (GRCm39) |
V187G |
probably damaging |
Het |
| Ccdc110 |
A |
T |
8: 46,396,487 (GRCm39) |
N793Y |
probably benign |
Het |
| Ccdc170 |
T |
C |
10: 4,508,663 (GRCm39) |
I629T |
possibly damaging |
Het |
| Clcn6 |
A |
G |
4: 148,093,172 (GRCm39) |
L836P |
probably damaging |
Het |
| Colgalt2 |
G |
T |
1: 152,384,312 (GRCm39) |
A551S |
possibly damaging |
Het |
| Crocc |
T |
C |
4: 140,755,737 (GRCm39) |
E1097G |
probably damaging |
Het |
| Csmd1 |
A |
T |
8: 16,321,616 (GRCm39) |
V494E |
probably damaging |
Het |
| Drg1 |
A |
T |
11: 3,206,537 (GRCm39) |
|
probably null |
Het |
| Dscam |
T |
C |
16: 96,840,206 (GRCm39) |
K134E |
possibly damaging |
Het |
| Dyrk1b |
T |
C |
7: 27,883,737 (GRCm39) |
Y198H |
probably damaging |
Het |
| Esr1 |
A |
G |
10: 4,806,951 (GRCm39) |
D289G |
probably benign |
Het |
| Esr1 |
G |
T |
10: 4,889,289 (GRCm39) |
V396F |
probably damaging |
Het |
| Evi5l |
T |
C |
8: 4,243,133 (GRCm39) |
V339A |
probably damaging |
Het |
| Fat4 |
A |
T |
3: 38,944,965 (GRCm39) |
Q1286L |
probably benign |
Het |
| Fcsk |
A |
T |
8: 111,621,380 (GRCm39) |
V188D |
probably damaging |
Het |
| Frem1 |
T |
C |
4: 82,887,681 (GRCm39) |
H1118R |
probably damaging |
Het |
| Fut9 |
C |
T |
4: 25,619,852 (GRCm39) |
D321N |
probably benign |
Het |
| Gaa |
T |
G |
11: 119,175,373 (GRCm39) |
V917G |
probably damaging |
Het |
| Gm973 |
GCC |
GC |
1: 59,583,839 (GRCm39) |
|
probably null |
Het |
| Kidins220 |
A |
G |
12: 25,060,140 (GRCm39) |
T767A |
probably damaging |
Het |
| Kif7 |
A |
G |
7: 79,348,571 (GRCm39) |
S1257P |
probably benign |
Het |
| Ltn1 |
A |
G |
16: 87,194,726 (GRCm39) |
L1391P |
probably damaging |
Het |
| Mast3 |
A |
G |
8: 71,240,564 (GRCm39) |
V291A |
possibly damaging |
Het |
| Mast3 |
A |
G |
8: 71,236,439 (GRCm39) |
Y681H |
probably damaging |
Het |
| Metrn |
C |
T |
17: 26,014,109 (GRCm39) |
R239H |
probably benign |
Het |
| Mphosph10 |
C |
A |
7: 64,026,451 (GRCm39) |
K666N |
possibly damaging |
Het |
| Mtbp |
C |
T |
15: 55,449,857 (GRCm39) |
T433I |
probably benign |
Het |
| Mtmr2 |
A |
G |
9: 13,710,545 (GRCm39) |
K365E |
probably damaging |
Het |
| Nanog |
A |
G |
6: 122,690,357 (GRCm39) |
D229G |
probably damaging |
Het |
| Nkapd1 |
T |
C |
9: 50,520,679 (GRCm39) |
T123A |
probably damaging |
Het |
| Npepps |
T |
C |
11: 97,131,840 (GRCm39) |
N338S |
possibly damaging |
Het |
| Nphp4 |
T |
A |
4: 152,636,393 (GRCm39) |
|
probably benign |
Het |
| Odad4 |
A |
T |
11: 100,441,091 (GRCm39) |
K107N |
probably damaging |
Het |
| Or4g16 |
T |
C |
2: 111,137,417 (GRCm39) |
F289S |
possibly damaging |
Het |
| Polb |
A |
T |
8: 23,130,408 (GRCm39) |
Y173N |
probably damaging |
Het |
| R3hdm1 |
T |
A |
1: 128,090,512 (GRCm39) |
S74T |
probably benign |
Het |
| Raet1d |
T |
A |
10: 22,246,782 (GRCm39) |
C37S |
probably damaging |
Het |
| Reln |
G |
A |
5: 22,432,511 (GRCm39) |
|
probably benign |
Het |
| Rps6kc1 |
T |
C |
1: 190,541,197 (GRCm39) |
S369G |
probably damaging |
Het |
| Sgf29 |
A |
G |
7: 126,270,743 (GRCm39) |
E108G |
probably benign |
Het |
| Sh3tc1 |
A |
G |
5: 35,863,361 (GRCm39) |
L942P |
probably damaging |
Het |
| Slc22a27 |
A |
T |
19: 7,874,187 (GRCm39) |
L188* |
probably null |
Het |
| Slc9a3 |
T |
A |
13: 74,307,543 (GRCm39) |
I445N |
probably damaging |
Het |
| Sufu |
A |
T |
19: 46,439,112 (GRCm39) |
|
probably benign |
Het |
| Tomm40 |
G |
A |
7: 19,447,676 (GRCm39) |
T118I |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,570,823 (GRCm39) |
R26690H |
probably damaging |
Het |
| Vmn2r16 |
A |
G |
5: 109,488,005 (GRCm39) |
I293V |
possibly damaging |
Het |
| Vmn2r68 |
T |
A |
7: 84,882,457 (GRCm39) |
|
probably benign |
Het |
| Vmn2r68 |
C |
G |
7: 84,882,466 (GRCm39) |
|
probably null |
Het |
| Vsig8 |
A |
G |
1: 172,389,105 (GRCm39) |
D119G |
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 |
|
|
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'- TGACAGGACTCCGCTACCTGATTTC -3'
(R):5'- CACAGGCTCATTATCTGGCCCATC -3'
Sequencing Primer
(F):5'- TGCTGTCCAGTGTATCAGAAACC -3'
(R):5'- GAGACAGAGGTTGCTTCATATCC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation