Incidental Mutation 'R8979:Plcl2'
ID |
683667 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plcl2
|
Ensembl Gene |
ENSMUSG00000038910 |
Gene Name |
phospholipase C-like 2 |
Synonyms |
Plce2, PRIP-2 |
MMRRC Submission |
068812-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.221)
|
Stock # |
R8979 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
50816431-50995512 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 50947145 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 1008
(M1008K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046584
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043938]
|
AlphaFold |
Q8K394 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043938
AA Change: M1008K
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000046584 Gene: ENSMUSG00000038910 AA Change: M1008K
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: 99.7%
- 20x: 99.1%
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2 |
A |
C |
3: 59,932,545 (GRCm39) |
R353S |
probably damaging |
Het |
Ablim3 |
C |
T |
18: 61,982,397 (GRCm39) |
V183I |
probably benign |
Het |
Adgrb3 |
T |
A |
1: 25,527,115 (GRCm39) |
Q607L |
probably benign |
Het |
Adgrl1 |
A |
G |
8: 84,665,015 (GRCm39) |
D1234G |
probably benign |
Het |
Alms1 |
A |
G |
6: 85,598,009 (GRCm39) |
Y945C |
probably damaging |
Het |
Arhgef26 |
T |
A |
3: 62,246,969 (GRCm39) |
W18R |
possibly damaging |
Het |
Caskin1 |
G |
T |
17: 24,717,899 (GRCm39) |
A229S |
possibly damaging |
Het |
Celsr1 |
A |
T |
15: 85,847,340 (GRCm39) |
S1466T |
probably damaging |
Het |
Cftr |
T |
C |
6: 18,227,947 (GRCm39) |
Y380H |
probably benign |
Het |
Ciapin1 |
A |
T |
8: 95,549,753 (GRCm39) |
L301Q |
probably damaging |
Het |
Clec1b |
A |
G |
6: 129,380,537 (GRCm39) |
E151G |
probably benign |
Het |
Cngb1 |
G |
A |
8: 96,004,913 (GRCm39) |
|
probably benign |
Het |
Cntln |
T |
A |
4: 85,048,910 (GRCm39) |
V240E |
probably damaging |
Het |
Cog5 |
A |
G |
12: 31,840,894 (GRCm39) |
T240A |
probably benign |
Het |
Col5a3 |
G |
A |
9: 20,686,597 (GRCm39) |
P1343S |
unknown |
Het |
Cspp1 |
T |
A |
1: 10,134,630 (GRCm39) |
S127T |
probably benign |
Het |
Dnah9 |
T |
G |
11: 65,895,978 (GRCm39) |
M2466L |
probably benign |
Het |
Fbn2 |
C |
T |
18: 58,286,928 (GRCm39) |
G244R |
probably damaging |
Het |
Fbxw13 |
A |
T |
9: 109,013,197 (GRCm39) |
W247R |
probably damaging |
Het |
Gbp4 |
G |
A |
5: 105,267,248 (GRCm39) |
T557M |
probably benign |
Het |
Ide |
G |
A |
19: 37,302,711 (GRCm39) |
A133V |
|
Het |
Il2rb |
C |
A |
15: 78,376,052 (GRCm39) |
|
probably benign |
Het |
Itgb1 |
A |
G |
8: 129,448,951 (GRCm39) |
E519G |
probably benign |
Het |
Kifc1 |
A |
G |
17: 34,102,228 (GRCm39) |
Y462H |
possibly damaging |
Het |
Krt1 |
A |
G |
15: 101,755,340 (GRCm39) |
F473S |
probably benign |
Het |
Llgl1 |
C |
T |
11: 60,601,129 (GRCm39) |
A689V |
probably benign |
Het |
Lrrc37a |
C |
A |
11: 103,393,833 (GRCm39) |
V531L |
possibly damaging |
Het |
Mid1 |
C |
G |
X: 168,768,003 (GRCm39) |
P384A |
probably benign |
Het |
Mid1 |
G |
A |
X: 168,768,009 (GRCm39) |
A386T |
probably benign |
Het |
Mms22l |
C |
T |
4: 24,580,070 (GRCm39) |
L760F |
probably benign |
Het |
Mplkipl1 |
A |
G |
19: 61,164,169 (GRCm39) |
Y89H |
probably damaging |
Het |
Mst1r |
C |
T |
9: 107,792,478 (GRCm39) |
R951C |
probably damaging |
Het |
Naalad2 |
G |
A |
9: 18,242,146 (GRCm39) |
T586M |
probably damaging |
Het |
Or4c108 |
C |
T |
2: 88,804,173 (GRCm39) |
V21I |
probably benign |
Het |
Oxct2b |
A |
G |
4: 123,011,169 (GRCm39) |
N363S |
probably benign |
Het |
Padi6 |
T |
G |
4: 140,466,474 (GRCm39) |
N145T |
probably benign |
Het |
Plekha5 |
T |
C |
6: 140,496,818 (GRCm39) |
S435P |
probably damaging |
Het |
Prkacb |
C |
A |
3: 146,518,411 (GRCm39) |
G10C |
probably benign |
Het |
Psg29 |
A |
T |
7: 16,937,544 (GRCm39) |
|
probably benign |
Het |
Ptpn4 |
T |
C |
1: 119,671,120 (GRCm39) |
T213A |
probably damaging |
Het |
Ptpro |
A |
G |
6: 137,345,140 (GRCm39) |
I49V |
probably benign |
Het |
Rassf1 |
A |
G |
9: 107,429,004 (GRCm39) |
D70G |
probably benign |
Het |
Rbm24 |
A |
T |
13: 46,572,531 (GRCm39) |
T9S |
probably damaging |
Het |
Rp1 |
T |
C |
1: 4,218,937 (GRCm39) |
T948A |
unknown |
Het |
Ryr2 |
A |
T |
13: 11,609,924 (GRCm39) |
C4301S |
probably benign |
Het |
S100pbp |
T |
C |
4: 129,076,133 (GRCm39) |
D64G |
probably damaging |
Het |
Samd3 |
A |
G |
10: 26,120,428 (GRCm39) |
K141E |
possibly damaging |
Het |
Scgb1b29 |
A |
T |
7: 32,141,277 (GRCm39) |
K65* |
probably null |
Het |
Shoc1 |
T |
C |
4: 59,047,276 (GRCm39) |
T1448A |
possibly damaging |
Het |
Slc51b |
T |
C |
9: 65,320,210 (GRCm39) |
N86D |
probably benign |
Het |
Slc6a3 |
G |
A |
13: 73,715,720 (GRCm39) |
V452I |
probably benign |
Het |
Sobp |
A |
G |
10: 42,896,976 (GRCm39) |
|
probably null |
Het |
Spats2 |
T |
C |
15: 99,110,123 (GRCm39) |
S507P |
possibly damaging |
Het |
Spns3 |
C |
T |
11: 72,420,416 (GRCm39) |
A357T |
probably damaging |
Het |
Suox |
A |
T |
10: 128,507,367 (GRCm39) |
H220Q |
probably damaging |
Het |
Tbc1d9b |
A |
T |
11: 50,061,809 (GRCm39) |
S1106C |
probably benign |
Het |
Tbx1 |
T |
C |
16: 18,406,745 (GRCm39) |
D9G |
unknown |
Het |
Tcaf2 |
A |
T |
6: 42,601,404 (GRCm39) |
F885Y |
probably damaging |
Het |
Tgoln1 |
T |
C |
6: 72,593,262 (GRCm39) |
T73A |
probably benign |
Het |
Tigd3 |
G |
A |
19: 5,941,853 (GRCm39) |
P426S |
probably benign |
Het |
Tmem233 |
T |
A |
5: 116,221,260 (GRCm39) |
|
probably benign |
Het |
Tnfrsf11a |
A |
G |
1: 105,754,825 (GRCm39) |
D299G |
possibly damaging |
Het |
Trim32 |
T |
C |
4: 65,531,692 (GRCm39) |
V83A |
possibly damaging |
Het |
Unc13a |
A |
T |
8: 72,113,125 (GRCm39) |
M242K |
probably benign |
Het |
Vat1 |
C |
T |
11: 101,353,041 (GRCm39) |
G293D |
probably damaging |
Het |
Vmn1r174 |
T |
A |
7: 23,453,892 (GRCm39) |
V186D |
possibly damaging |
Het |
Wdfy3 |
A |
G |
5: 102,096,764 (GRCm39) |
Y345H |
probably damaging |
Het |
Zzef1 |
C |
T |
11: 72,766,003 (GRCm39) |
T1510I |
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 |
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'- GAACCGCTGGATTAGTGTTTTC -3'
Sequencing Primer
(F):5'- ACTGCATGTGTAGTCAGTACTG -3'
(R):5'- ATTAGTGTTTTCTTTAGCCATGGAC -3'
|
Posted On |
2021-10-11 |