Incidental Mutation 'R1748:Plcl2'
ID |
194161 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plcl2
|
Ensembl Gene |
ENSMUSG00000038910 |
Gene Name |
phospholipase C-like 2 |
Synonyms |
Plce2, PRIP-2 |
MMRRC Submission |
039780-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.221)
|
Stock # |
R1748 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
50816431-50995512 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 50913826 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 278
(S278R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046584
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043938]
|
AlphaFold |
Q8K394 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043938
AA Change: S278R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000046584 Gene: ENSMUSG00000038910 AA Change: S278R
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: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.8%
|
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc5 |
G |
T |
16: 20,152,338 (GRCm39) |
Q1403K |
probably benign |
Het |
Adamts12 |
G |
A |
15: 11,241,548 (GRCm39) |
M373I |
probably damaging |
Het |
Agrp |
G |
T |
8: 106,293,467 (GRCm39) |
T106K |
probably damaging |
Het |
Aire |
T |
C |
10: 77,879,314 (GRCm39) |
H15R |
probably damaging |
Het |
Aldh3b2 |
T |
C |
19: 4,027,572 (GRCm39) |
F38L |
probably damaging |
Het |
Alk |
A |
C |
17: 72,910,416 (GRCm39) |
C97G |
probably benign |
Het |
Ano8 |
T |
C |
8: 71,931,602 (GRCm39) |
|
probably benign |
Het |
Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
Arsk |
T |
A |
13: 76,210,529 (GRCm39) |
H506L |
probably benign |
Het |
Asgr2 |
G |
T |
11: 69,987,658 (GRCm39) |
R52L |
probably damaging |
Het |
Atp2a1 |
A |
G |
7: 126,058,780 (GRCm39) |
I145T |
possibly damaging |
Het |
Atrnl1 |
A |
G |
19: 57,703,134 (GRCm39) |
T1051A |
probably damaging |
Het |
Cacna1e |
A |
T |
1: 154,362,315 (GRCm39) |
V424D |
possibly damaging |
Het |
Capn3 |
T |
C |
2: 120,327,494 (GRCm39) |
V574A |
probably benign |
Het |
Capzb |
C |
A |
4: 138,984,679 (GRCm39) |
D67E |
probably damaging |
Het |
Ccdc68 |
A |
T |
18: 70,089,062 (GRCm39) |
T202S |
probably benign |
Het |
Ccser2 |
T |
C |
14: 36,618,270 (GRCm39) |
K123R |
probably damaging |
Het |
Ccser2 |
T |
A |
14: 36,618,271 (GRCm39) |
K123* |
probably null |
Het |
Ces2h |
T |
C |
8: 105,744,473 (GRCm39) |
I316T |
probably benign |
Het |
Chd3 |
T |
G |
11: 69,255,523 (GRCm39) |
K122Q |
possibly damaging |
Het |
Col12a1 |
T |
C |
9: 79,580,279 (GRCm39) |
T1533A |
probably benign |
Het |
Cr2 |
T |
A |
1: 194,838,213 (GRCm39) |
K1084* |
probably null |
Het |
Ddx28 |
A |
G |
8: 106,737,314 (GRCm39) |
L248P |
probably benign |
Het |
Depdc5 |
A |
G |
5: 33,075,286 (GRCm39) |
E488G |
probably benign |
Het |
Dld |
T |
C |
12: 31,384,745 (GRCm39) |
T305A |
probably benign |
Het |
Dok5 |
T |
A |
2: 170,683,373 (GRCm39) |
F211L |
probably damaging |
Het |
Duox2 |
T |
C |
2: 122,117,532 (GRCm39) |
D934G |
probably benign |
Het |
Eif3a |
G |
A |
19: 60,755,236 (GRCm39) |
T982I |
unknown |
Het |
Erbb2 |
G |
T |
11: 98,326,161 (GRCm39) |
R979L |
probably benign |
Het |
Espl1 |
G |
T |
15: 102,206,964 (GRCm39) |
V143L |
possibly damaging |
Het |
Fanci |
T |
C |
7: 79,080,236 (GRCm39) |
L598P |
probably damaging |
Het |
Fat2 |
T |
A |
11: 55,147,473 (GRCm39) |
E3923V |
probably damaging |
Het |
Fhod3 |
A |
T |
18: 24,903,550 (GRCm39) |
K95* |
probably null |
Het |
Gpr108 |
G |
T |
17: 57,543,217 (GRCm39) |
T484K |
probably damaging |
Het |
Hao1 |
T |
A |
2: 134,340,238 (GRCm39) |
N351I |
possibly damaging |
Het |
Hepacam |
A |
T |
9: 37,295,189 (GRCm39) |
N308I |
possibly damaging |
Het |
Herc2 |
T |
C |
7: 55,798,571 (GRCm39) |
|
probably null |
Het |
Hltf |
T |
C |
3: 20,130,685 (GRCm39) |
I301T |
probably benign |
Het |
Igsf10 |
A |
T |
3: 59,226,514 (GRCm39) |
N2386K |
probably damaging |
Het |
Ikbke |
G |
T |
1: 131,186,937 (GRCm39) |
T585K |
probably benign |
Het |
Iqgap3 |
A |
G |
3: 88,021,287 (GRCm39) |
T448A |
possibly damaging |
Het |
Kl |
T |
C |
5: 150,904,450 (GRCm39) |
S401P |
possibly damaging |
Het |
Lama4 |
T |
C |
10: 38,941,615 (GRCm39) |
V684A |
probably benign |
Het |
Lgals8 |
A |
T |
13: 12,469,824 (GRCm39) |
F45Y |
probably damaging |
Het |
Lgalsl |
G |
A |
11: 20,776,491 (GRCm39) |
R134C |
probably benign |
Het |
Lmcd1 |
T |
C |
6: 112,306,875 (GRCm39) |
V349A |
probably benign |
Het |
Lrp1b |
T |
A |
2: 41,618,718 (GRCm39) |
N119Y |
possibly damaging |
Het |
Lrrc73 |
T |
A |
17: 46,566,621 (GRCm39) |
I157N |
probably damaging |
Het |
Map3k8 |
A |
G |
18: 4,334,766 (GRCm39) |
Y293H |
probably damaging |
Het |
Mybphl |
A |
T |
3: 108,282,400 (GRCm39) |
|
probably null |
Het |
Naa12 |
T |
C |
18: 80,255,161 (GRCm39) |
S152P |
probably benign |
Het |
Ndrg1 |
A |
G |
15: 66,802,930 (GRCm39) |
M140T |
possibly damaging |
Het |
Or2n1e |
T |
A |
17: 38,585,997 (GRCm39) |
C112S |
possibly damaging |
Het |
Or8b38 |
A |
G |
9: 37,972,796 (GRCm39) |
Y60C |
probably damaging |
Het |
Pbx2 |
T |
C |
17: 34,812,951 (GRCm39) |
S76P |
possibly damaging |
Het |
Polr3d |
A |
T |
14: 70,676,915 (GRCm39) |
L393* |
probably null |
Het |
Prmt6 |
T |
C |
3: 110,157,683 (GRCm39) |
Q202R |
probably benign |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Sag |
T |
A |
1: 87,759,662 (GRCm39) |
I300N |
probably damaging |
Het |
Sap25 |
T |
A |
5: 137,640,180 (GRCm39) |
|
probably null |
Het |
Scarb2 |
A |
G |
5: 92,608,695 (GRCm39) |
L177P |
probably damaging |
Het |
Sh3pxd2b |
A |
T |
11: 32,372,203 (GRCm39) |
N457Y |
possibly damaging |
Het |
Siae |
T |
A |
9: 37,542,902 (GRCm39) |
|
probably null |
Het |
Slc36a1 |
T |
C |
11: 55,119,150 (GRCm39) |
L375P |
probably damaging |
Het |
Smg8 |
A |
G |
11: 86,976,594 (GRCm39) |
V329A |
probably damaging |
Het |
Tas2r113 |
A |
T |
6: 132,870,695 (GRCm39) |
Y241F |
probably damaging |
Het |
Tm9sf3 |
T |
G |
19: 41,244,668 (GRCm39) |
S70R |
probably benign |
Het |
Tmem144 |
C |
T |
3: 79,732,594 (GRCm39) |
S228N |
probably damaging |
Het |
Tmem45a |
C |
A |
16: 56,642,701 (GRCm39) |
V157F |
possibly damaging |
Het |
Tpbg |
G |
T |
9: 85,726,429 (GRCm39) |
V133L |
probably damaging |
Het |
Trpv3 |
G |
A |
11: 73,186,209 (GRCm39) |
V667I |
possibly damaging |
Het |
Ube2c |
T |
C |
2: 164,613,241 (GRCm39) |
F53S |
probably damaging |
Het |
Vmn1r78 |
T |
A |
7: 11,887,250 (GRCm39) |
V287D |
probably damaging |
Het |
Vmn2r114 |
T |
A |
17: 23,527,035 (GRCm39) |
D499V |
probably benign |
Het |
Zpld2 |
C |
G |
4: 133,927,610 (GRCm39) |
C381S |
probably damaging |
Het |
Zpld2 |
T |
A |
4: 133,929,430 (GRCm39) |
T292S |
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 |
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 |
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'- GCAGCGCAAGTGACTGTATCAACTC -3'
(R):5'- ACCCTGTTCTGCCTCAAGAAACATC -3'
Sequencing Primer
(F):5'- CAGCAATGGCATTTCTGAGC -3'
(R):5'- GTTCTGCCTCAAGAAACATCATAAGG -3'
|
Posted On |
2014-05-23 |