Incidental Mutation 'R2057:Plcl2'
| ID |
228321 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcl2
|
| Ensembl Gene |
ENSMUSG00000038910 |
| Gene Name |
phospholipase C-like 2 |
| Synonyms |
Plce2, PRIP-2 |
| MMRRC Submission |
040062-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.221)
|
| Stock # |
R2057 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
50816431-50995512 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 50975139 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046584
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043938]
[ENSMUST00000043938]
|
| AlphaFold |
Q8K394 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000043938
|
| SMART Domains |
Protein: ENSMUSP00000046584
Gene: ENSMUSG00000038910
| 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 |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000043938
|
| SMART Domains |
Protein: ENSMUSP00000046584
Gene: ENSMUSG00000038910
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
A |
G |
19: 43,806,477 (GRCm39) |
K764E |
probably damaging |
Het |
| Abcg2 |
T |
C |
6: 58,667,525 (GRCm39) |
V129A |
probably benign |
Het |
| Adgrf5 |
A |
G |
17: 43,739,477 (GRCm39) |
Y72C |
possibly damaging |
Het |
| Ago1 |
C |
T |
4: 126,337,021 (GRCm39) |
R228H |
probably damaging |
Het |
| Ano1 |
A |
G |
7: 144,201,789 (GRCm39) |
V334A |
probably damaging |
Het |
| Apob |
A |
T |
12: 8,052,164 (GRCm39) |
R1202* |
probably null |
Het |
| Arfgap3 |
G |
T |
15: 83,194,501 (GRCm39) |
D389E |
probably benign |
Het |
| Atf6b |
A |
T |
17: 34,867,549 (GRCm39) |
|
probably null |
Het |
| Atoh8 |
T |
C |
6: 72,212,112 (GRCm39) |
K13E |
probably damaging |
Het |
| Bicral |
G |
T |
17: 47,135,814 (GRCm39) |
N465K |
possibly damaging |
Het |
| Bves |
T |
A |
10: 45,219,231 (GRCm39) |
Y110N |
probably damaging |
Het |
| C4b |
A |
G |
17: 34,947,594 (GRCm39) |
Y1695H |
probably damaging |
Het |
| Cage1 |
A |
G |
13: 38,207,356 (GRCm39) |
V163A |
probably benign |
Het |
| Canx |
T |
C |
11: 50,195,252 (GRCm39) |
N272S |
probably damaging |
Het |
| Caskin1 |
G |
T |
17: 24,715,433 (GRCm39) |
G93V |
probably damaging |
Het |
| Cd34 |
T |
C |
1: 194,641,450 (GRCm39) |
V292A |
probably damaging |
Het |
| Cd84 |
A |
G |
1: 171,700,317 (GRCm39) |
T145A |
possibly damaging |
Het |
| Cdh16 |
C |
A |
8: 105,348,597 (GRCm39) |
G144* |
probably null |
Het |
| Chaf1b |
T |
A |
16: 93,691,795 (GRCm39) |
H280Q |
probably damaging |
Het |
| Chpf2 |
G |
A |
5: 24,796,220 (GRCm39) |
G389R |
probably damaging |
Het |
| Crb1 |
T |
C |
1: 139,242,488 (GRCm39) |
Y330C |
probably damaging |
Het |
| Cux2 |
A |
T |
5: 122,007,567 (GRCm39) |
V698E |
probably benign |
Het |
| Dhtkd1 |
A |
G |
2: 5,947,430 (GRCm39) |
V18A |
unknown |
Het |
| Dmbt1 |
G |
A |
7: 130,707,900 (GRCm39) |
A1381T |
possibly damaging |
Het |
| Enpp1 |
C |
G |
10: 24,536,090 (GRCm39) |
A437P |
probably damaging |
Het |
| Fat2 |
C |
T |
11: 55,172,686 (GRCm39) |
V2676I |
possibly damaging |
Het |
| Fzd2 |
A |
G |
11: 102,496,759 (GRCm39) |
D401G |
probably damaging |
Het |
| Gcm2 |
T |
C |
13: 41,263,430 (GRCm39) |
M1V |
probably null |
Het |
| Gnai3 |
C |
T |
3: 108,019,812 (GRCm39) |
V233I |
probably benign |
Het |
| Golim4 |
T |
A |
3: 75,802,194 (GRCm39) |
D366V |
possibly damaging |
Het |
| Grin1 |
T |
A |
2: 25,206,832 (GRCm39) |
T110S |
probably damaging |
Het |
| Grin2a |
A |
G |
16: 9,487,608 (GRCm39) |
V430A |
probably benign |
Het |
| Gstp3 |
G |
A |
19: 4,109,282 (GRCm39) |
T5I |
probably damaging |
Het |
| Il17rb |
T |
A |
14: 29,719,111 (GRCm39) |
M324L |
probably benign |
Het |
| Jmy |
A |
G |
13: 93,596,211 (GRCm39) |
Y473H |
probably damaging |
Het |
| Khdc1b |
A |
G |
1: 21,454,534 (GRCm39) |
D79G |
probably benign |
Het |
| Kremen2 |
T |
C |
17: 23,961,691 (GRCm39) |
E272G |
possibly damaging |
Het |
| Lmo7 |
G |
C |
14: 102,124,614 (GRCm39) |
A358P |
probably damaging |
Het |
| Mdh1b |
T |
C |
1: 63,760,741 (GRCm39) |
I107V |
probably benign |
Het |
| Mlkl |
T |
C |
8: 112,060,242 (GRCm39) |
Q48R |
probably benign |
Het |
| Myh2 |
G |
A |
11: 67,079,665 (GRCm39) |
|
probably null |
Het |
| Naip1 |
T |
A |
13: 100,562,081 (GRCm39) |
Q1028L |
probably damaging |
Het |
| Ncald |
T |
A |
15: 37,397,423 (GRCm39) |
I86F |
possibly damaging |
Het |
| Nid1 |
A |
C |
13: 13,675,058 (GRCm39) |
H926P |
probably benign |
Het |
| Nlrp9a |
T |
A |
7: 26,256,787 (GRCm39) |
I46K |
possibly damaging |
Het |
| Or1p1 |
A |
G |
11: 74,179,652 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or9r3 |
A |
T |
10: 129,947,859 (GRCm39) |
S267T |
probably benign |
Het |
| Pak1 |
T |
A |
7: 97,557,004 (GRCm39) |
|
probably null |
Het |
| Parpbp |
T |
A |
10: 87,960,824 (GRCm39) |
M221L |
probably benign |
Het |
| Pde12 |
T |
C |
14: 26,390,035 (GRCm39) |
I225V |
probably benign |
Het |
| Phf19 |
G |
T |
2: 34,789,620 (GRCm39) |
R367S |
probably benign |
Het |
| Plxnb1 |
A |
T |
9: 108,938,294 (GRCm39) |
I1283F |
possibly damaging |
Het |
| Pramel6 |
T |
A |
2: 87,339,059 (GRCm39) |
N86K |
possibly damaging |
Het |
| Prkdc |
A |
G |
16: 15,545,469 (GRCm39) |
T1862A |
probably benign |
Het |
| Prpf40a |
A |
T |
2: 53,034,851 (GRCm39) |
I779K |
probably damaging |
Het |
| Prss3b |
G |
A |
6: 41,009,315 (GRCm39) |
T173I |
probably benign |
Het |
| Ptpn20 |
A |
T |
14: 33,352,942 (GRCm39) |
E227V |
probably damaging |
Het |
| Rad54b |
C |
T |
4: 11,606,088 (GRCm39) |
R499C |
probably benign |
Het |
| Rarg |
C |
A |
15: 102,147,939 (GRCm39) |
A291S |
probably damaging |
Het |
| Rnf169 |
A |
T |
7: 99,574,615 (GRCm39) |
L660Q |
probably damaging |
Het |
| Scn4a |
A |
G |
11: 106,226,550 (GRCm39) |
V670A |
probably damaging |
Het |
| Serpinb9c |
A |
T |
13: 33,340,854 (GRCm39) |
C81* |
probably null |
Het |
| Sik1 |
A |
G |
17: 32,067,771 (GRCm39) |
S435P |
probably benign |
Het |
| Slc35g2 |
G |
A |
9: 100,435,329 (GRCm39) |
A114V |
probably damaging |
Het |
| Slc7a14 |
A |
T |
3: 31,291,645 (GRCm39) |
V211E |
probably damaging |
Het |
| Snrpn |
A |
T |
7: 59,637,204 (GRCm39) |
H37Q |
possibly damaging |
Het |
| Spock3 |
T |
A |
8: 63,698,204 (GRCm39) |
C185* |
probably null |
Het |
| Tbc1d4 |
A |
G |
14: 101,714,591 (GRCm39) |
S627P |
probably damaging |
Het |
| Tgoln1 |
T |
C |
6: 72,592,653 (GRCm39) |
T276A |
probably benign |
Het |
| Tmem176b |
G |
A |
6: 48,813,267 (GRCm39) |
T64I |
probably damaging |
Het |
| Tnpo2 |
T |
C |
8: 85,776,742 (GRCm39) |
L483P |
probably damaging |
Het |
| Tpte |
T |
A |
8: 22,808,355 (GRCm39) |
D163E |
probably benign |
Het |
| Trim36 |
A |
T |
18: 46,329,229 (GRCm39) |
D70E |
probably benign |
Het |
| Umodl1 |
G |
A |
17: 31,227,740 (GRCm39) |
|
probably null |
Het |
| Wdr90 |
T |
C |
17: 26,074,173 (GRCm39) |
T691A |
probably benign |
Het |
| Zdhhc8 |
A |
G |
16: 18,046,210 (GRCm39) |
S118P |
probably damaging |
Het |
| Zfp438 |
T |
C |
18: 5,214,085 (GRCm39) |
E291G |
probably benign |
Het |
| Zfp879 |
C |
T |
11: 50,723,428 (GRCm39) |
E543K |
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 |
|
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'- GAAATTCCAGTGTGGCTTGG -3'
(R):5'- AATCTGTGGTTAGAGATATGGGCTC -3'
Sequencing Primer
(F):5'- ATACGTGTTGGCAGTTCATTACCAC -3'
(R):5'- GTTAGAGATATGGGCTCTCAGC -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation