Incidental Mutation 'R6238:Plcl2'
| ID |
505084 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcl2
|
| Ensembl Gene |
ENSMUSG00000038910 |
| Gene Name |
phospholipase C-like 2 |
| Synonyms |
Plce2, PRIP-2 |
| MMRRC Submission |
044401-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.251)
|
| Stock # |
R6238 (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 C
at 50913873 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 294
(V294A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046584
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043938]
|
| AlphaFold |
Q8K394 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043938
AA Change: V294A
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000046584
Gene: ENSMUSG00000038910
AA Change: V294A
| 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 |
0.2289 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (62/62) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610028H24Rik |
A |
C |
10: 76,285,096 (GRCm39) |
T2P |
possibly damaging |
Het |
| 2610042L04Rik |
A |
G |
14: 4,348,962 (GRCm38) |
N41S |
probably damaging |
Het |
| 4933402N03Rik |
T |
C |
7: 130,747,863 (GRCm39) |
D43G |
probably benign |
Het |
| Adcy10 |
C |
A |
1: 165,403,297 (GRCm39) |
Y1598* |
probably null |
Het |
| Adgrv1 |
G |
A |
13: 81,614,402 (GRCm39) |
T3997M |
probably benign |
Het |
| Amfr |
A |
C |
8: 94,726,992 (GRCm39) |
F74V |
probably damaging |
Het |
| Ankrd13a |
T |
C |
5: 114,924,787 (GRCm39) |
Y91H |
probably benign |
Het |
| Baiap3 |
A |
G |
17: 25,464,732 (GRCm39) |
S767P |
probably benign |
Het |
| Car12 |
C |
T |
9: 66,661,008 (GRCm39) |
T124I |
probably damaging |
Het |
| Casp9 |
G |
T |
4: 141,534,448 (GRCm39) |
G286V |
probably damaging |
Het |
| Cc2d2a |
T |
A |
5: 43,828,577 (GRCm39) |
D18E |
probably benign |
Het |
| Cdc27 |
T |
C |
11: 104,419,270 (GRCm39) |
N221D |
probably damaging |
Het |
| Cebpz |
A |
G |
17: 79,244,339 (GRCm39) |
S41P |
possibly damaging |
Het |
| Cenpo |
T |
A |
12: 4,281,968 (GRCm39) |
S10C |
possibly damaging |
Het |
| Chid1 |
A |
G |
7: 141,076,049 (GRCm39) |
V368A |
probably benign |
Het |
| Clca3a1 |
C |
A |
3: 144,714,716 (GRCm39) |
V634L |
probably benign |
Het |
| Cmtr1 |
A |
G |
17: 29,901,122 (GRCm39) |
D683G |
probably damaging |
Het |
| Cpsf3 |
G |
T |
12: 21,350,163 (GRCm39) |
R294L |
probably damaging |
Het |
| Ddrgk1 |
G |
A |
2: 130,496,599 (GRCm39) |
T255M |
possibly damaging |
Het |
| Dennd6a |
T |
A |
14: 26,337,813 (GRCm39) |
|
probably null |
Het |
| Dnah10 |
A |
G |
5: 124,820,743 (GRCm39) |
R526G |
probably damaging |
Het |
| Dock3 |
G |
A |
9: 106,790,147 (GRCm39) |
T1484I |
probably benign |
Het |
| Efcab10 |
T |
C |
12: 33,448,433 (GRCm39) |
Y89H |
probably damaging |
Het |
| Etl4 |
T |
A |
2: 20,806,379 (GRCm39) |
D1200E |
probably damaging |
Het |
| Fbn1 |
T |
A |
2: 125,166,865 (GRCm39) |
D2017V |
probably damaging |
Het |
| Ftmt |
G |
A |
18: 52,465,307 (GRCm39) |
V208M |
probably damaging |
Het |
| Fzd10 |
T |
C |
5: 128,679,995 (GRCm39) |
Y572H |
probably damaging |
Het |
| Gcc1 |
T |
C |
6: 28,420,742 (GRCm39) |
K39E |
probably damaging |
Het |
| Hydin |
A |
G |
8: 111,118,743 (GRCm39) |
|
probably null |
Het |
| Lif |
A |
G |
11: 4,218,940 (GRCm39) |
E73G |
possibly damaging |
Het |
| Lrtm1 |
C |
A |
14: 28,749,628 (GRCm39) |
Q357K |
probably benign |
Het |
| Mef2d |
T |
A |
3: 88,066,852 (GRCm39) |
L205Q |
probably damaging |
Het |
| Naalad2 |
T |
A |
9: 18,296,361 (GRCm39) |
E96D |
probably damaging |
Het |
| Nbas |
T |
C |
12: 13,532,596 (GRCm39) |
I1768T |
probably benign |
Het |
| Nodal |
T |
C |
10: 61,259,258 (GRCm39) |
S232P |
probably damaging |
Het |
| Or52ab7 |
A |
T |
7: 102,978,115 (GRCm39) |
I141F |
possibly damaging |
Het |
| Or8b12c |
A |
G |
9: 37,715,317 (GRCm39) |
T37A |
probably benign |
Het |
| Parl |
G |
A |
16: 20,120,963 (GRCm39) |
R39C |
possibly damaging |
Het |
| Pcdha9 |
G |
A |
18: 37,132,028 (GRCm39) |
V366I |
probably benign |
Het |
| Pdzd8 |
A |
G |
19: 59,288,994 (GRCm39) |
V802A |
probably benign |
Het |
| Plxna2 |
T |
A |
1: 194,472,504 (GRCm39) |
S1083T |
probably benign |
Het |
| Polr2a |
G |
T |
11: 69,638,047 (GRCm39) |
L141I |
possibly damaging |
Het |
| Ptpre |
C |
A |
7: 135,272,909 (GRCm39) |
R468S |
probably damaging |
Het |
| Raet1e |
T |
A |
10: 22,056,770 (GRCm39) |
N115K |
probably benign |
Het |
| Rfx8 |
C |
A |
1: 39,709,554 (GRCm39) |
S491I |
probably damaging |
Het |
| Rpe |
T |
A |
1: 66,740,807 (GRCm39) |
L48* |
probably null |
Het |
| Skint5 |
A |
T |
4: 113,800,064 (GRCm39) |
|
probably null |
Het |
| Spata24 |
C |
A |
18: 35,793,389 (GRCm39) |
S111I |
possibly damaging |
Het |
| Suz12 |
G |
C |
11: 79,893,006 (GRCm39) |
|
probably benign |
Het |
| Taf4 |
T |
A |
2: 179,573,832 (GRCm39) |
I679F |
probably damaging |
Het |
| Tlr1 |
G |
T |
5: 65,084,472 (GRCm39) |
P35Q |
possibly damaging |
Het |
| Tonsl |
T |
C |
15: 76,520,418 (GRCm39) |
|
probably null |
Het |
| Tsen54 |
G |
A |
11: 115,711,513 (GRCm39) |
R310H |
probably benign |
Het |
| Ttc7b |
A |
G |
12: 100,461,681 (GRCm39) |
S99P |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Uhmk1 |
T |
A |
1: 170,027,563 (GRCm39) |
N378I |
probably damaging |
Het |
| Vmn2r107 |
A |
G |
17: 20,565,849 (GRCm39) |
T55A |
probably benign |
Het |
| Vmn2r74 |
C |
T |
7: 85,601,280 (GRCm39) |
C786Y |
probably damaging |
Het |
| Wdr20rt |
C |
T |
12: 65,272,964 (GRCm39) |
|
probably benign |
Het |
| Zfand2a |
T |
A |
5: 139,467,746 (GRCm39) |
H42L |
probably damaging |
Het |
| Zfp990 |
T |
A |
4: 145,264,483 (GRCm39) |
C494S |
probably damaging |
Het |
| Zkscan4 |
A |
T |
13: 21,668,757 (GRCm39) |
R403W |
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 |
|
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'- GTTGCAAACATCTGGGTGAC -3'
(R):5'- CCCTGTTCTGCCTCAAGAAAC -3'
Sequencing Primer
(F):5'- TGACAGGACTCCGCTACC -3'
(R):5'- CTCAAGAAACATCATAAGGTCCTTGG -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation