Incidental Mutation 'R9253:Plcl2'
| ID |
701689 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcl2
|
| Ensembl Gene |
ENSMUSG00000038910 |
| Gene Name |
phospholipase C-like 2 |
| Synonyms |
Plce2, PRIP-2 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.221)
|
| Stock # |
R9253 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
50816431-50995512 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 50915127 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 712
(M712R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046584
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043938]
|
| AlphaFold |
Q8K394 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043938
AA Change: M712R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046584
Gene: ENSMUSG00000038910
AA Change: M712R
| 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 |
0.8772 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (63/63) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
A |
G |
18: 59,103,013 (GRCm39) |
N685D |
probably damaging |
Het |
| Adh4 |
A |
T |
3: 138,129,860 (GRCm39) |
I229F |
probably damaging |
Het |
| Ajm1 |
T |
C |
2: 25,467,172 (GRCm39) |
H913R |
possibly damaging |
Het |
| Aldh3b1 |
T |
A |
19: 3,965,315 (GRCm39) |
S399C |
probably damaging |
Het |
| Arhgef28 |
C |
T |
13: 98,124,779 (GRCm39) |
G501D |
probably benign |
Het |
| Asb1 |
C |
A |
1: 91,468,551 (GRCm39) |
T6N |
unknown |
Het |
| Asb18 |
C |
T |
1: 89,882,185 (GRCm39) |
V382I |
probably benign |
Het |
| AU041133 |
T |
C |
10: 81,987,220 (GRCm39) |
I291T |
probably benign |
Het |
| B4galnt2 |
C |
T |
11: 95,759,176 (GRCm39) |
|
silent |
Het |
| Bcl7c |
T |
C |
7: 127,306,403 (GRCm39) |
|
probably benign |
Het |
| Brinp1 |
T |
C |
4: 68,711,083 (GRCm39) |
N375S |
possibly damaging |
Het |
| C6 |
A |
G |
15: 4,764,679 (GRCm39) |
Q125R |
probably benign |
Het |
| Card14 |
T |
C |
11: 119,212,759 (GRCm39) |
S108P |
probably benign |
Het |
| Clec4a2 |
C |
A |
6: 123,100,608 (GRCm39) |
T21N |
probably damaging |
Het |
| Cntnap2 |
C |
T |
6: 45,978,112 (GRCm39) |
L256F |
probably benign |
Het |
| Cobll1 |
G |
A |
2: 64,981,503 (GRCm39) |
T29I |
probably benign |
Het |
| Coq4 |
A |
T |
2: 29,685,433 (GRCm39) |
D149V |
probably damaging |
Het |
| Dync1i1 |
T |
C |
6: 5,769,698 (GRCm39) |
L91S |
probably benign |
Het |
| Fat2 |
T |
A |
11: 55,201,397 (GRCm39) |
D559V |
probably damaging |
Het |
| Gm4779 |
TGGCAGAGGCAGAGGCAGAGGCAGAGGCAGAGGCAG |
TGGCAGAGGCAGAGGCAGAGGCAGAGGCAGAGGCAGAGGCAG |
X: 100,836,917 (GRCm39) |
|
probably benign |
Het |
| Gsdmc |
A |
T |
15: 63,676,407 (GRCm39) |
V12E |
probably damaging |
Het |
| H2-Ab1 |
T |
C |
17: 34,486,378 (GRCm39) |
S146P |
probably damaging |
Het |
| Heatr5b |
A |
G |
17: 79,135,423 (GRCm39) |
V236A |
probably benign |
Het |
| Hjv |
T |
C |
3: 96,435,710 (GRCm39) |
S323P |
probably benign |
Het |
| Hmgcr |
C |
T |
13: 96,796,645 (GRCm39) |
C215Y |
probably damaging |
Het |
| L3mbtl1 |
G |
T |
2: 162,789,632 (GRCm39) |
A57S |
probably benign |
Het |
| Lilrb4b |
G |
A |
10: 51,357,863 (GRCm39) |
V186I |
probably damaging |
Het |
| Map1a |
T |
C |
2: 121,132,823 (GRCm39) |
V1213A |
probably benign |
Het |
| Marf1 |
T |
C |
16: 13,935,172 (GRCm39) |
E1532G |
probably damaging |
Het |
| Mcm6 |
T |
C |
1: 128,279,264 (GRCm39) |
Y174C |
probably damaging |
Het |
| Miga2 |
T |
A |
2: 30,261,239 (GRCm39) |
V178E |
probably benign |
Het |
| Myh11 |
T |
A |
16: 14,074,359 (GRCm39) |
I174F |
|
Het |
| Ndufv1 |
G |
T |
19: 4,059,412 (GRCm39) |
A211E |
probably damaging |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nlgn3 |
T |
C |
X: 100,352,390 (GRCm39) |
V179A |
probably damaging |
Het |
| Nrp1 |
T |
C |
8: 129,229,144 (GRCm39) |
V874A |
possibly damaging |
Het |
| Nsf |
C |
T |
11: 103,804,142 (GRCm39) |
G197S |
probably null |
Het |
| Or10al2 |
A |
T |
17: 37,983,637 (GRCm39) |
H241L |
probably benign |
Het |
| Or2t26 |
T |
C |
11: 49,039,822 (GRCm39) |
M246T |
probably damaging |
Het |
| Pacs2 |
A |
G |
12: 113,014,137 (GRCm39) |
D196G |
probably benign |
Het |
| Pbxip1 |
A |
G |
3: 89,351,012 (GRCm39) |
D118G |
probably benign |
Het |
| Pcdhb11 |
A |
T |
18: 37,554,529 (GRCm39) |
|
probably benign |
Het |
| Pgk2 |
C |
T |
17: 40,519,233 (GRCm39) |
G65D |
probably damaging |
Het |
| Plcd3 |
T |
C |
11: 102,970,460 (GRCm39) |
D193G |
probably benign |
Het |
| Plxna1 |
G |
A |
6: 89,334,522 (GRCm39) |
Q36* |
probably null |
Het |
| Plxnb2 |
A |
G |
15: 89,052,015 (GRCm39) |
V68A |
probably benign |
Het |
| Polr2b |
A |
G |
5: 77,493,224 (GRCm39) |
I1069V |
probably benign |
Het |
| Rbfox1 |
A |
G |
16: 7,111,973 (GRCm39) |
T200A |
probably benign |
Het |
| Rspry1 |
T |
A |
8: 95,349,621 (GRCm39) |
V3D |
probably damaging |
Het |
| Serpinb6d |
T |
C |
13: 33,855,205 (GRCm39) |
M293T |
probably damaging |
Het |
| Slc4a8 |
A |
G |
15: 100,680,913 (GRCm39) |
R72G |
probably benign |
Het |
| Smarca5 |
A |
C |
8: 81,446,344 (GRCm39) |
L452W |
probably damaging |
Het |
| Srcin1 |
T |
C |
11: 97,416,377 (GRCm39) |
K952E |
probably damaging |
Het |
| Synpo2l |
G |
T |
14: 20,716,738 (GRCm39) |
Q79K |
possibly damaging |
Het |
| Tmem174 |
T |
C |
13: 98,773,803 (GRCm39) |
E9G |
possibly damaging |
Het |
| Tmem270 |
T |
C |
5: 134,930,644 (GRCm39) |
T206A |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,562,951 (GRCm39) |
T28668S |
possibly damaging |
Het |
| Vmn1r118 |
A |
T |
7: 20,645,817 (GRCm39) |
S152R |
possibly damaging |
Het |
| Vmn2r25 |
T |
A |
6: 123,816,960 (GRCm39) |
Q207L |
probably damaging |
Het |
| Vmn2r81 |
T |
A |
10: 79,129,582 (GRCm39) |
S824R |
probably damaging |
Het |
| Vps54 |
G |
A |
11: 21,258,771 (GRCm39) |
V733I |
probably benign |
Het |
| Zfp518b |
G |
T |
5: 38,829,601 (GRCm39) |
D801E |
probably benign |
Het |
| Zgrf1 |
C |
A |
3: 127,392,428 (GRCm39) |
P1316Q |
probably damaging |
Het |
| Zzef1 |
C |
A |
11: 72,739,463 (GRCm39) |
|
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 |
|
|
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 |
|
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'- TCAAGGAGTTTCAGGTGTCG -3'
(R):5'- TTTGGGAAAGTTCTGGCCGC -3'
Sequencing Primer
(F):5'- GCTCCTTTAATGAAGTACTTGCGAG -3'
(R):5'- CGCTGATGATTTTGATGTGAAGCAAC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation