Incidental Mutation 'R7113:Plcl2'
ID |
551650 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plcl2
|
Ensembl Gene |
ENSMUSG00000038910 |
Gene Name |
phospholipase C-like 2 |
Synonyms |
Plce2, PRIP-2 |
MMRRC Submission |
045205-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.251)
|
Stock # |
R7113 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
50816431-50995512 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 50913492 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 167
(D167G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046584
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043938]
|
AlphaFold |
Q8K394 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000043938
AA Change: D167G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000046584 Gene: ENSMUSG00000038910 AA Change: D167G
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 |
0.2179 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
95% (53/56) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts6 |
T |
C |
13: 104,449,267 (GRCm39) |
S226P |
probably benign |
Het |
Adarb2 |
T |
C |
13: 8,781,881 (GRCm39) |
Y586H |
probably damaging |
Het |
Ano7 |
A |
T |
1: 93,313,342 (GRCm39) |
E160V |
probably benign |
Het |
Apob |
G |
C |
12: 8,045,539 (GRCm39) |
A895P |
probably damaging |
Het |
Ccdc157 |
T |
C |
11: 4,098,889 (GRCm39) |
T206A |
possibly damaging |
Het |
Ceacam18 |
A |
G |
7: 43,291,400 (GRCm39) |
N281D |
probably benign |
Het |
Chil4 |
T |
C |
3: 106,110,083 (GRCm39) |
D337G |
probably damaging |
Het |
Chil4 |
T |
G |
3: 106,121,664 (GRCm39) |
K62Q |
probably benign |
Het |
Cic |
A |
T |
7: 24,972,869 (GRCm39) |
I867F |
probably benign |
Het |
Cntln |
A |
G |
4: 84,968,064 (GRCm39) |
E761G |
probably damaging |
Het |
Cyp2d26 |
T |
A |
15: 82,674,403 (GRCm39) |
Y493F |
probably benign |
Het |
Dync2h1 |
A |
T |
9: 7,075,788 (GRCm39) |
F3026L |
probably benign |
Het |
Ehd3 |
T |
A |
17: 74,137,179 (GRCm39) |
D449E |
probably benign |
Het |
Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
Herc2 |
T |
G |
7: 55,853,597 (GRCm39) |
D3696E |
probably damaging |
Het |
Hivep3 |
T |
A |
4: 119,955,566 (GRCm39) |
I1294N |
probably damaging |
Het |
Il19 |
T |
C |
1: 130,862,732 (GRCm39) |
I139V |
probably benign |
Het |
Jmjd1c |
T |
A |
10: 66,993,780 (GRCm39) |
I87N |
probably damaging |
Het |
Kcnma1 |
A |
G |
14: 23,513,224 (GRCm39) |
Y392H |
probably damaging |
Het |
Kcnv2 |
T |
C |
19: 27,301,448 (GRCm39) |
L433P |
probably damaging |
Het |
Kif9 |
A |
T |
9: 110,335,732 (GRCm39) |
N378Y |
probably damaging |
Het |
Lonrf1 |
A |
T |
8: 36,697,664 (GRCm39) |
V440E |
probably benign |
Het |
Lrrc37 |
A |
G |
11: 103,509,625 (GRCm39) |
I781T |
unknown |
Het |
Manea |
A |
T |
4: 26,336,718 (GRCm39) |
L186Q |
probably damaging |
Het |
Mas1 |
A |
G |
17: 13,061,324 (GRCm39) |
I33T |
probably benign |
Het |
Med13l |
A |
G |
5: 118,864,330 (GRCm39) |
S389G |
probably benign |
Het |
Nxph3 |
T |
C |
11: 95,401,892 (GRCm39) |
N174S |
possibly damaging |
Het |
Or1l4 |
T |
A |
2: 37,091,568 (GRCm39) |
F105Y |
possibly damaging |
Het |
Or8g52 |
G |
C |
9: 39,630,973 (GRCm39) |
C150S |
probably benign |
Het |
Pcdha5 |
A |
G |
18: 37,094,757 (GRCm39) |
D422G |
probably benign |
Het |
Pias4 |
A |
C |
10: 80,990,287 (GRCm39) |
V416G |
possibly damaging |
Het |
Pik3cg |
T |
A |
12: 32,255,666 (GRCm39) |
Y107F |
probably damaging |
Het |
Plcg1 |
T |
A |
2: 160,590,203 (GRCm39) |
W156R |
possibly damaging |
Het |
Podxl |
T |
A |
6: 31,501,668 (GRCm39) |
|
probably null |
Het |
Ppp1r2 |
T |
C |
16: 31,073,536 (GRCm39) |
D197G |
probably benign |
Het |
Ptprs |
C |
G |
17: 56,758,697 (GRCm39) |
V175L |
probably benign |
Het |
Rad17 |
A |
T |
13: 100,766,025 (GRCm39) |
S368T |
probably benign |
Het |
Rdh8 |
G |
T |
9: 20,736,623 (GRCm39) |
R230L |
probably benign |
Het |
Rpl35 |
A |
C |
2: 38,894,168 (GRCm39) |
L58R |
probably damaging |
Het |
Rtp3 |
A |
C |
9: 110,815,767 (GRCm39) |
C199W |
probably damaging |
Het |
S100pbp |
G |
A |
4: 129,075,896 (GRCm39) |
T143I |
probably damaging |
Het |
Scarf1 |
A |
G |
11: 75,416,904 (GRCm39) |
E782G |
probably damaging |
Het |
Slc30a9 |
T |
C |
5: 67,484,205 (GRCm39) |
V114A |
probably benign |
Het |
Speer1c |
G |
A |
5: 10,292,977 (GRCm39) |
P189S |
|
Het |
Stpg2 |
G |
A |
3: 139,407,535 (GRCm39) |
|
probably null |
Het |
Tdpoz1 |
T |
C |
3: 93,578,113 (GRCm39) |
S224G |
possibly damaging |
Het |
Triml2 |
T |
A |
8: 43,636,370 (GRCm39) |
Y52N |
probably benign |
Het |
Trpm2 |
A |
T |
10: 77,783,765 (GRCm39) |
I236N |
probably damaging |
Het |
Unc5c |
A |
G |
3: 141,507,054 (GRCm39) |
D602G |
probably benign |
Het |
Upk1a |
A |
G |
7: 30,309,236 (GRCm39) |
S29P |
probably damaging |
Het |
Vmn2r54 |
A |
G |
7: 12,350,001 (GRCm39) |
L527P |
probably damaging |
Het |
Vmn2r72 |
A |
T |
7: 85,399,011 (GRCm39) |
|
probably null |
Het |
Vstm2l |
G |
T |
2: 157,756,649 (GRCm39) |
|
probably benign |
Het |
Vwf |
G |
T |
6: 125,632,007 (GRCm39) |
G1952V |
|
Het |
Zfand6 |
A |
C |
7: 84,265,077 (GRCm39) |
I208S |
probably damaging |
Het |
Zfp236 |
A |
G |
18: 82,638,462 (GRCm39) |
I1386T |
possibly 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 |
|
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 |
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'- ACAGTACACAGCTTTTCAGGG -3'
(R):5'- ACATCTGCAGAATTGGCAACC -3'
Sequencing Primer
(F):5'- CTTAGTCTGAACATGAACACCTATG -3'
(R):5'- TTGGCAACCAAATCAAGTGACTC -3'
|
Posted On |
2019-05-15 |