Incidental Mutation 'R9469:Plcl2'
| ID |
715388 |
| 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 # |
R9469 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
50816431-50995512 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 50913953 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 321
(D321N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046584
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043938]
|
| AlphaFold |
Q8K394 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043938
AA Change: D321N
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000046584
Gene: ENSMUSG00000038910
AA Change: D321N
| 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: 99.5%
- 20x: 98.2%
|
| 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 |
|---|
| Acsbg3 |
A |
T |
17: 57,183,283 (GRCm39) |
D8V |
probably benign |
Het |
| Ada |
T |
A |
2: 163,574,192 (GRCm39) |
M155L |
probably benign |
Het |
| Adam23 |
A |
G |
1: 63,584,671 (GRCm39) |
I360V |
probably benign |
Het |
| Ahnak |
G |
A |
19: 8,988,225 (GRCm39) |
G3170R |
probably damaging |
Het |
| Alb |
G |
A |
5: 90,610,659 (GRCm39) |
D80N |
probably benign |
Het |
| Amph |
G |
T |
13: 19,270,769 (GRCm39) |
G126V |
probably damaging |
Het |
| Anks1b |
A |
T |
10: 90,733,205 (GRCm39) |
M994L |
possibly damaging |
Het |
| Atp8a2 |
A |
G |
14: 60,028,668 (GRCm39) |
L933P |
probably benign |
Het |
| Bcas1 |
T |
C |
2: 170,191,292 (GRCm39) |
D546G |
possibly damaging |
Het |
| Bmpr2 |
A |
C |
1: 59,881,928 (GRCm39) |
M186L |
probably benign |
Het |
| Clca3a2 |
T |
C |
3: 144,507,938 (GRCm39) |
I711V |
probably damaging |
Het |
| Cobll1 |
G |
A |
2: 64,966,774 (GRCm39) |
T128I |
probably damaging |
Het |
| Cog4 |
T |
C |
8: 111,608,804 (GRCm39) |
W165R |
unknown |
Het |
| Cyp2j5 |
G |
A |
4: 96,517,731 (GRCm39) |
R494* |
probably null |
Het |
| Dnah2 |
G |
A |
11: 69,321,896 (GRCm39) |
A3808V |
probably damaging |
Het |
| Dnah5 |
A |
T |
15: 28,421,146 (GRCm39) |
T3828S |
probably benign |
Het |
| Dsg1c |
T |
C |
18: 20,400,947 (GRCm39) |
I150T |
probably damaging |
Het |
| Ehd2 |
A |
T |
7: 15,684,332 (GRCm39) |
I489N |
probably damaging |
Het |
| Fam24a |
C |
A |
7: 130,938,392 (GRCm39) |
T94K |
probably damaging |
Het |
| Gata2 |
A |
G |
6: 88,182,301 (GRCm39) |
E423G |
possibly damaging |
Het |
| Gm8947 |
A |
G |
1: 151,069,063 (GRCm39) |
I299V |
unknown |
Het |
| Gpr161 |
A |
G |
1: 165,133,896 (GRCm39) |
I53V |
possibly damaging |
Het |
| Guca2b |
G |
A |
4: 119,515,817 (GRCm39) |
Q15* |
probably null |
Het |
| Hus1 |
A |
G |
11: 8,948,744 (GRCm39) |
V219A |
probably benign |
Het |
| Il5 |
T |
C |
11: 53,614,824 (GRCm39) |
W129R |
probably damaging |
Het |
| Ipmk |
A |
G |
10: 71,201,843 (GRCm39) |
Y77C |
probably damaging |
Het |
| Kcnip3 |
A |
G |
2: 127,307,322 (GRCm39) |
L136P |
probably benign |
Het |
| Klhl2 |
G |
A |
8: 65,196,069 (GRCm39) |
A558V |
probably benign |
Het |
| Klra5 |
C |
A |
6: 129,883,686 (GRCm39) |
W147L |
possibly damaging |
Het |
| Lig3 |
G |
A |
11: 82,686,199 (GRCm39) |
C613Y |
probably benign |
Het |
| Lrriq1 |
A |
G |
10: 103,050,761 (GRCm39) |
S664P |
probably benign |
Het |
| Megf6 |
A |
G |
4: 154,335,369 (GRCm39) |
Y276C |
probably damaging |
Het |
| Mlph |
A |
G |
1: 90,856,068 (GRCm39) |
E119G |
probably damaging |
Het |
| Mrpl39 |
T |
G |
16: 84,517,170 (GRCm39) |
R316S |
probably damaging |
Het |
| Myo18b |
T |
C |
5: 112,994,247 (GRCm39) |
D902G |
probably benign |
Het |
| Myocd |
A |
G |
11: 65,087,220 (GRCm39) |
S236P |
probably benign |
Het |
| Myom1 |
G |
T |
17: 71,368,122 (GRCm39) |
A482S |
possibly damaging |
Het |
| Nol4 |
A |
G |
18: 23,085,318 (GRCm39) |
V32A |
probably damaging |
Het |
| Nrp2 |
T |
C |
1: 62,804,030 (GRCm39) |
Y555H |
probably damaging |
Het |
| Or12d12 |
T |
C |
17: 37,610,956 (GRCm39) |
D119G |
probably damaging |
Het |
| Or4d10c |
G |
A |
19: 12,065,434 (GRCm39) |
H241Y |
probably benign |
Het |
| Or52l1 |
A |
T |
7: 104,829,967 (GRCm39) |
H199Q |
probably damaging |
Het |
| Or8k27 |
C |
A |
2: 86,275,787 (GRCm39) |
D180Y |
probably damaging |
Het |
| Papss1 |
A |
G |
3: 131,288,959 (GRCm39) |
K175E |
possibly damaging |
Het |
| Pdcd5 |
T |
C |
7: 35,343,827 (GRCm39) |
M39V |
probably benign |
Het |
| Plxna4 |
G |
A |
6: 32,494,526 (GRCm39) |
P30L |
probably benign |
Het |
| Pou2f1 |
G |
A |
1: 165,740,830 (GRCm39) |
T113I |
probably benign |
Het |
| Ptpn2 |
T |
A |
18: 67,808,907 (GRCm39) |
H303L |
probably benign |
Het |
| R3hdm1 |
T |
A |
1: 128,106,921 (GRCm39) |
|
probably null |
Het |
| Rdx |
T |
C |
9: 51,977,069 (GRCm39) |
V106A |
probably damaging |
Het |
| Ripk2 |
T |
C |
4: 16,138,181 (GRCm39) |
D249G |
possibly damaging |
Het |
| Rnf169 |
A |
T |
7: 99,575,567 (GRCm39) |
S343T |
possibly damaging |
Het |
| Rnf40 |
T |
A |
7: 127,195,769 (GRCm39) |
L671Q |
probably damaging |
Het |
| Scube3 |
C |
A |
17: 28,386,138 (GRCm39) |
S793* |
probably null |
Het |
| Sipa1l3 |
A |
T |
7: 29,028,481 (GRCm39) |
M1633K |
possibly damaging |
Het |
| Slc16a14 |
A |
T |
1: 84,900,612 (GRCm39) |
N124K |
probably benign |
Het |
| Smarcd2 |
G |
A |
11: 106,163,332 (GRCm39) |
A68V |
probably benign |
Het |
| Smg1 |
T |
C |
7: 117,739,774 (GRCm39) |
E3391G |
possibly damaging |
Het |
| Spata32 |
T |
C |
11: 103,099,741 (GRCm39) |
M255V |
possibly damaging |
Het |
| Sstr5 |
T |
A |
17: 25,710,941 (GRCm39) |
Q96L |
probably damaging |
Het |
| Tcaf3 |
A |
G |
6: 42,573,828 (GRCm39) |
I128T |
probably benign |
Het |
| Tfdp1 |
C |
T |
8: 13,422,965 (GRCm39) |
T290M |
probably benign |
Het |
| Ticrr |
C |
T |
7: 79,344,511 (GRCm39) |
H1459Y |
probably benign |
Het |
| Tmed4 |
T |
A |
11: 6,223,763 (GRCm39) |
Q171L |
probably benign |
Het |
| Tmem40 |
G |
A |
6: 115,719,321 (GRCm39) |
S48F |
possibly damaging |
Het |
| Tnfaip1 |
A |
G |
11: 78,419,075 (GRCm39) |
|
probably null |
Het |
| Top1mt |
A |
G |
15: 75,539,742 (GRCm39) |
Y290H |
probably damaging |
Het |
| Topaz1 |
A |
T |
9: 122,577,585 (GRCm39) |
D165V |
probably damaging |
Het |
| Trim44 |
T |
C |
2: 102,230,651 (GRCm39) |
S127G |
unknown |
Het |
| Ubac1 |
G |
A |
2: 25,897,763 (GRCm39) |
R286C |
probably damaging |
Het |
| Ube2u |
A |
G |
4: 100,406,958 (GRCm39) |
E273G |
possibly damaging |
Het |
| Vmn1r213 |
G |
A |
13: 23,196,101 (GRCm39) |
S228N |
probably benign |
Het |
| Vmn2r28 |
A |
T |
7: 5,487,118 (GRCm39) |
V515E |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,780,691 (GRCm39) |
L4011P |
|
Het |
| Ythdc2 |
T |
C |
18: 45,019,383 (GRCm39) |
F1384S |
probably damaging |
Het |
| Zfp423 |
T |
A |
8: 88,509,519 (GRCm39) |
Y275F |
probably damaging |
Het |
| Zfp493 |
A |
G |
13: 67,934,325 (GRCm39) |
K93E |
probably benign |
Het |
| Zfp980 |
G |
T |
4: 145,427,687 (GRCm39) |
G139W |
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 |
|
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 |
|
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'- TGTTGCAAACATCTGGGTGAC -3'
(R):5'- ATGTGCTACACCCTGTTCTG -3'
Sequencing Primer
(F):5'- CGCTACCTGATTTCTTATGGGAAAC -3'
(R):5'- GTTCTGCCTCAAGAAACATCATAAGG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation