Incidental Mutation 'R6633:Plcl2'
| ID |
525355 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcl2
|
| Ensembl Gene |
ENSMUSG00000038910 |
| Gene Name |
phospholipase C-like 2 |
| Synonyms |
Plce2, PRIP-2 |
| MMRRC Submission |
044755-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.251)
|
| Stock # |
R6633 (G1)
|
| Quality Score |
192.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
50816431-50995512 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 50947168 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 1016
(I1016V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046584
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043938]
|
| AlphaFold |
Q8K394 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043938
AA Change: I1016V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000046584
Gene: ENSMUSG00000038910
AA Change: I1016V
| 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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.8%
|
| Validation Efficiency |
100% (50/50) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatf |
C |
A |
11: 84,402,308 (GRCm39) |
|
probably null |
Het |
| Acot7 |
C |
T |
4: 152,262,716 (GRCm39) |
P30L |
probably benign |
Het |
| Adam24 |
T |
G |
8: 41,133,526 (GRCm39) |
D331E |
probably benign |
Het |
| Adamdec1 |
T |
C |
14: 68,810,601 (GRCm39) |
D185G |
probably benign |
Het |
| Adgrg7 |
T |
C |
16: 56,550,649 (GRCm39) |
I688V |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,716,762 (GRCm39) |
F779I |
probably damaging |
Het |
| Agtr1a |
A |
G |
13: 30,565,450 (GRCm39) |
I172V |
probably benign |
Het |
| Anapc4 |
C |
T |
5: 53,023,288 (GRCm39) |
H710Y |
possibly damaging |
Het |
| Arf1 |
T |
C |
11: 59,103,370 (GRCm39) |
N179S |
probably benign |
Het |
| Arhgef40 |
C |
T |
14: 52,234,888 (GRCm39) |
P1064S |
probably damaging |
Het |
| Btnl1 |
A |
G |
17: 34,604,305 (GRCm39) |
N362S |
possibly damaging |
Het |
| Ccdc80 |
T |
C |
16: 44,915,271 (GRCm39) |
F9S |
possibly damaging |
Het |
| Ccdc96 |
G |
A |
5: 36,642,533 (GRCm39) |
E180K |
probably benign |
Het |
| Cdh2 |
A |
T |
18: 16,773,605 (GRCm39) |
N241K |
probably benign |
Het |
| Cdk8 |
C |
A |
5: 146,235,656 (GRCm39) |
S261* |
probably null |
Het |
| Csf2rb2 |
T |
C |
15: 78,173,152 (GRCm39) |
E236G |
probably benign |
Het |
| Dgcr8 |
A |
T |
16: 18,102,046 (GRCm39) |
S79T |
possibly damaging |
Het |
| Dnah5 |
A |
T |
15: 28,293,933 (GRCm39) |
Y1346F |
probably benign |
Het |
| Dock6 |
A |
G |
9: 21,731,627 (GRCm39) |
V1194A |
probably benign |
Het |
| Dock6 |
A |
G |
9: 21,732,799 (GRCm39) |
S1129P |
probably damaging |
Het |
| Ephb2 |
C |
G |
4: 136,411,307 (GRCm39) |
S451T |
probably benign |
Het |
| Esco1 |
T |
A |
18: 10,595,738 (GRCm39) |
|
probably benign |
Het |
| Fcer1a |
C |
G |
1: 173,054,293 (GRCm39) |
|
probably null |
Het |
| Gbx2 |
TCCCCC |
TCCCCCC |
1: 89,856,442 (GRCm39) |
|
probably null |
Het |
| Gm44511 |
T |
A |
6: 128,803,205 (GRCm39) |
D2V |
probably damaging |
Het |
| H2-Q2 |
A |
G |
17: 35,561,363 (GRCm39) |
T19A |
probably damaging |
Het |
| Herc1 |
G |
T |
9: 66,346,534 (GRCm39) |
E1967* |
probably null |
Het |
| Hic1 |
G |
T |
11: 75,060,324 (GRCm39) |
H8N |
unknown |
Het |
| Irx4 |
G |
T |
13: 73,416,545 (GRCm39) |
A314S |
probably benign |
Het |
| Jarid2 |
C |
A |
13: 45,038,353 (GRCm39) |
H84N |
probably damaging |
Het |
| Klk1b27 |
A |
T |
7: 43,705,234 (GRCm39) |
I134F |
probably damaging |
Het |
| Kprp |
T |
C |
3: 92,732,600 (GRCm39) |
Y150C |
probably damaging |
Het |
| Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
| Lrp10 |
T |
C |
14: 54,706,531 (GRCm39) |
V489A |
probably benign |
Het |
| Mrgpra6 |
A |
G |
7: 46,838,493 (GRCm39) |
I235T |
possibly damaging |
Het |
| Naip1 |
A |
G |
13: 100,559,584 (GRCm39) |
M1140T |
probably benign |
Het |
| Naip1 |
C |
T |
13: 100,559,593 (GRCm39) |
R1137Q |
probably benign |
Het |
| Or4c12 |
T |
C |
2: 89,773,710 (GRCm39) |
I250V |
probably benign |
Het |
| Plekhb1 |
A |
G |
7: 100,294,846 (GRCm39) |
Y122H |
probably damaging |
Het |
| Polr2a |
A |
G |
11: 69,626,339 (GRCm39) |
S1604P |
possibly damaging |
Het |
| Ppp6r2 |
G |
A |
15: 89,137,458 (GRCm39) |
|
probably null |
Het |
| Rag1 |
T |
A |
2: 101,473,055 (GRCm39) |
R696W |
probably damaging |
Het |
| Rusc2 |
T |
C |
4: 43,414,852 (GRCm39) |
F53L |
probably damaging |
Het |
| Rxylt1 |
G |
A |
10: 121,932,958 (GRCm39) |
R7W |
probably damaging |
Het |
| Tango6 |
T |
C |
8: 107,444,637 (GRCm39) |
V514A |
probably benign |
Het |
| Tex30 |
A |
C |
1: 44,127,084 (GRCm39) |
H64Q |
probably benign |
Het |
| Tmbim7 |
A |
G |
5: 3,707,659 (GRCm39) |
|
probably null |
Het |
| Tpcn1 |
A |
G |
5: 120,682,529 (GRCm39) |
M493T |
probably benign |
Het |
| Tpx2 |
T |
G |
2: 152,709,274 (GRCm39) |
F35V |
probably damaging |
Het |
| Vmn1r3 |
G |
A |
4: 3,184,971 (GRCm39) |
T112I |
probably benign |
Het |
| Wnt2b |
T |
C |
3: 104,858,372 (GRCm39) |
Y299C |
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 |
|
|
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 |
|
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'- CACCTGGACTGCATGTGTAG -3'
(R):5'- TGAGAACCGCTGGATTAGTG -3'
Sequencing Primer
(F):5'- ACTGCATGTGTAGTCAGTACTG -3'
(R):5'- AGAACCGCTGGATTAGTGTTTTC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation