Incidental Mutation 'R9453:Plcl2'
| ID |
714423 |
| 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? |
Possibly non essential
(E-score: 0.251)
|
| Stock # |
R9453 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
50816431-50995512 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 50915391 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 800
(T800K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046584
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043938]
|
| AlphaFold |
Q8K394 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043938
AA Change: T800K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046584
Gene: ENSMUSG00000038910
AA Change: T800K
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
G |
A |
11: 58,771,054 (GRCm39) |
A179T |
probably benign |
Het |
| Abca6 |
A |
G |
11: 110,138,090 (GRCm39) |
|
probably null |
Het |
| Agps |
A |
C |
2: 75,662,585 (GRCm39) |
D10A |
probably damaging |
Het |
| Atad2b |
T |
A |
12: 5,081,578 (GRCm39) |
D1162E |
probably benign |
Het |
| Atp13a4 |
T |
C |
16: 29,239,659 (GRCm39) |
K851R |
unknown |
Het |
| Cdh15 |
A |
G |
8: 123,586,029 (GRCm39) |
D136G |
probably damaging |
Het |
| Cdk5rap1 |
A |
T |
2: 154,190,585 (GRCm39) |
Y459N |
probably damaging |
Het |
| Cep192 |
A |
T |
18: 67,989,354 (GRCm39) |
K1834* |
probably null |
Het |
| Cfap221 |
C |
T |
1: 119,853,361 (GRCm39) |
V778I |
probably benign |
Het |
| Chpf |
G |
A |
1: 75,452,854 (GRCm39) |
T362I |
probably benign |
Het |
| Cyp4x1 |
T |
C |
4: 114,991,069 (GRCm39) |
R36G |
probably damaging |
Het |
| D16Ertd472e |
T |
A |
16: 78,342,052 (GRCm39) |
Q276L |
probably damaging |
Het |
| Dapk3 |
T |
C |
10: 81,025,825 (GRCm39) |
Y39H |
probably damaging |
Het |
| Eefsec |
T |
C |
6: 88,353,337 (GRCm39) |
T111A |
probably damaging |
Het |
| Ehbp1l1 |
G |
A |
19: 5,758,371 (GRCm39) |
R1714C |
unknown |
Het |
| Flcn |
A |
G |
11: 59,694,609 (GRCm39) |
V121A |
probably damaging |
Het |
| Gaa |
G |
T |
11: 119,165,958 (GRCm39) |
D423Y |
probably damaging |
Het |
| Gaa |
A |
C |
11: 119,165,959 (GRCm39) |
D423A |
probably benign |
Het |
| Garnl3 |
A |
G |
2: 32,893,881 (GRCm39) |
I694T |
probably damaging |
Het |
| Gm5114 |
T |
A |
7: 39,058,242 (GRCm39) |
Q459L |
probably damaging |
Het |
| H1f0 |
C |
T |
15: 78,912,947 (GRCm39) |
P9L |
probably damaging |
Het |
| Hmmr |
A |
G |
11: 40,612,655 (GRCm39) |
|
probably null |
Het |
| Klra5 |
C |
A |
6: 129,883,686 (GRCm39) |
W147L |
possibly damaging |
Het |
| Lmnb1 |
G |
A |
18: 56,873,114 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
T |
C |
2: 69,288,832 (GRCm39) |
Y3678C |
probably damaging |
Het |
| Map7 |
T |
C |
10: 20,153,981 (GRCm39) |
V699A |
unknown |
Het |
| Mme |
G |
T |
3: 63,272,306 (GRCm39) |
G635V |
possibly damaging |
Het |
| Mroh8 |
A |
T |
2: 157,071,948 (GRCm39) |
I519N |
possibly damaging |
Het |
| Mrps11 |
T |
C |
7: 78,442,390 (GRCm39) |
S157P |
probably damaging |
Het |
| Muc16 |
T |
C |
9: 18,572,061 (GRCm39) |
T153A |
unknown |
Het |
| Nlrp1b |
A |
G |
11: 71,072,913 (GRCm39) |
V310A |
probably damaging |
Het |
| Oas1f |
T |
C |
5: 120,993,592 (GRCm39) |
V268A |
probably damaging |
Het |
| Or56a3b |
T |
A |
7: 104,770,817 (GRCm39) |
I51N |
|
Het |
| Or6y1 |
A |
T |
1: 174,276,233 (GRCm39) |
T15S |
probably benign |
Het |
| Padi4 |
A |
G |
4: 140,479,950 (GRCm39) |
L401P |
probably benign |
Het |
| Pdzd7 |
A |
G |
19: 45,016,056 (GRCm39) |
*1022Q |
probably null |
Het |
| Polr1has |
TCACCACCACCACCACCACCACCAC |
TCACCACCACCACCACCACCAC |
17: 37,275,939 (GRCm39) |
|
probably benign |
Het |
| Ppp1r37 |
A |
T |
7: 19,295,796 (GRCm39) |
F54I |
probably damaging |
Het |
| Prl7c1 |
T |
A |
13: 27,957,870 (GRCm39) |
Y190F |
probably benign |
Het |
| Prpf8 |
A |
G |
11: 75,397,212 (GRCm39) |
E2015G |
possibly damaging |
Het |
| Rpap3 |
A |
G |
15: 97,579,641 (GRCm39) |
V457A |
|
Het |
| Samd13 |
A |
T |
3: 146,368,510 (GRCm39) |
D27E |
|
Het |
| Sephs1 |
A |
T |
2: 4,889,174 (GRCm39) |
|
probably benign |
Het |
| Slc22a20 |
T |
G |
19: 6,023,024 (GRCm39) |
Q373P |
probably damaging |
Het |
| Sp100 |
A |
G |
1: 85,629,179 (GRCm39) |
*483W |
probably null |
Het |
| Src |
A |
T |
2: 157,307,852 (GRCm39) |
T254S |
probably damaging |
Het |
| St6galnac2 |
A |
T |
11: 116,569,344 (GRCm39) |
M301K |
possibly damaging |
Het |
| Tnfsf13 |
A |
T |
11: 69,576,010 (GRCm39) |
W26R |
probably damaging |
Het |
| Trbv28 |
T |
A |
6: 41,248,687 (GRCm39) |
D72E |
probably benign |
Het |
| Trim75 |
T |
A |
8: 65,436,561 (GRCm39) |
|
probably benign |
Het |
| Ttc39d |
T |
C |
17: 80,524,754 (GRCm39) |
F471S |
probably damaging |
Het |
| Vav1 |
C |
T |
17: 57,613,191 (GRCm39) |
P621L |
probably benign |
Het |
| Vezt |
A |
T |
10: 93,832,856 (GRCm39) |
L185* |
probably null |
Het |
| Vmn2r42 |
T |
C |
7: 8,187,295 (GRCm39) |
I826V |
probably benign |
Het |
| Vmn2r67 |
G |
A |
7: 84,800,697 (GRCm39) |
T413M |
probably benign |
Het |
| Vnn1 |
G |
A |
10: 23,776,723 (GRCm39) |
C358Y |
probably damaging |
Het |
| Wdr83os |
G |
C |
8: 85,808,638 (GRCm39) |
W106C |
probably damaging |
Het |
| Wdr95 |
T |
C |
5: 149,475,917 (GRCm39) |
S72P |
probably damaging |
Het |
| Zfp423 |
T |
A |
8: 88,508,251 (GRCm39) |
T698S |
probably damaging |
Het |
| Zfp521 |
G |
A |
18: 13,977,293 (GRCm39) |
T1040I |
probably damaging |
Het |
| Zfp563 |
T |
A |
17: 33,308,565 (GRCm39) |
V9E |
|
Het |
| Zmym2 |
T |
A |
14: 57,180,770 (GRCm39) |
V894E |
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 |
|
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 |
|
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'- TGTGGCTATGTTCTTCGACC -3'
(R):5'- GGTAGCCCGTCTGTAAACACTC -3'
Sequencing Primer
(F):5'- CATCATGAGGGAAGAAGTCTCCTTC -3'
(R):5'- CCGTCTGTAAACACTCGAAGGG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation