Incidental Mutation 'R4815:Plcb3'
ID |
369751 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plcb3
|
Ensembl Gene |
ENSMUSG00000024960 |
Gene Name |
phospholipase C, beta 3 |
Synonyms |
|
MMRRC Submission |
042433-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.702)
|
Stock # |
R4815 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
6931081-6951738 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 6940352 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 439
(I439T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025912
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025912]
|
AlphaFold |
P51432 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025912
AA Change: I439T
PolyPhen 2
Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000025912 Gene: ENSMUSG00000024960 AA Change: I439T
Domain | Start | End | E-Value | Type |
Pfam:EF-hand_like
|
225 |
316 |
6.6e-23 |
PFAM |
PLCXc
|
317 |
468 |
4.26e-73 |
SMART |
low complexity region
|
488 |
515 |
N/A |
INTRINSIC |
low complexity region
|
553 |
578 |
N/A |
INTRINSIC |
PLCYc
|
591 |
707 |
3.88e-76 |
SMART |
C2
|
728 |
826 |
4.52e-14 |
SMART |
low complexity region
|
917 |
936 |
N/A |
INTRINSIC |
Pfam:PLC-beta_C
|
1029 |
1202 |
5.5e-57 |
PFAM |
|
Meta Mutation Damage Score |
0.1039 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.5%
|
Validation Efficiency |
96% (76/79) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the phosphoinositide phospholipase C beta enzyme family that catalyze the production of the secondary messengers diacylglycerol and inositol 1,4,5-triphosphate from phosphatidylinositol in G-protein-linked receptor-mediated signal transduction. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010] PHENOTYPE: Mice homozygous for one targeted mutation die at E2.5 and exhibit poor embryonic organization and hypocellularity. Mice homozygous for a second targeted mutation survive to adulthood and exhibit an increased antinocieptive response to opioids. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alpk2 |
A |
T |
18: 65,483,026 (GRCm39) |
N327K |
probably damaging |
Het |
Ank2 |
T |
C |
3: 126,730,410 (GRCm39) |
T675A |
probably benign |
Het |
Arap3 |
T |
C |
18: 38,106,296 (GRCm39) |
T1516A |
probably benign |
Het |
Asb18 |
A |
T |
1: 89,942,147 (GRCm39) |
N51K |
probably damaging |
Het |
C7 |
A |
G |
15: 5,088,887 (GRCm39) |
V18A |
probably benign |
Het |
Caap1 |
A |
G |
4: 94,389,497 (GRCm39) |
V279A |
probably benign |
Het |
Cacnb2 |
A |
G |
2: 14,879,591 (GRCm39) |
D21G |
probably damaging |
Het |
Ccdc171 |
T |
C |
4: 83,713,458 (GRCm39) |
S1166P |
probably damaging |
Het |
Chgb |
A |
T |
2: 132,635,219 (GRCm39) |
H387L |
probably benign |
Het |
Chp2 |
G |
A |
7: 121,820,123 (GRCm39) |
R91Q |
probably damaging |
Het |
Chuk |
C |
A |
19: 44,065,686 (GRCm39) |
G703* |
probably null |
Het |
Clmn |
T |
C |
12: 104,751,825 (GRCm39) |
D210G |
probably damaging |
Het |
Cyp4f18 |
A |
G |
8: 72,749,839 (GRCm39) |
V270A |
possibly damaging |
Het |
Dgcr2 |
A |
G |
16: 17,676,483 (GRCm39) |
|
probably benign |
Het |
Diaph1 |
A |
T |
18: 38,028,256 (GRCm39) |
V411D |
unknown |
Het |
Dkk2 |
C |
T |
3: 131,879,546 (GRCm39) |
A75V |
probably benign |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Dnase2a |
T |
C |
8: 85,636,506 (GRCm39) |
V187A |
probably benign |
Het |
Dusp19 |
A |
G |
2: 80,461,289 (GRCm39) |
M193V |
probably benign |
Het |
Ear-ps2 |
G |
A |
14: 44,284,517 (GRCm39) |
|
noncoding transcript |
Het |
Golgb1 |
A |
T |
16: 36,733,477 (GRCm39) |
Q908L |
possibly damaging |
Het |
Hsp90aa1 |
T |
C |
12: 110,661,660 (GRCm39) |
M119V |
possibly damaging |
Het |
Ice2 |
C |
T |
9: 69,314,400 (GRCm39) |
R50C |
probably damaging |
Het |
Ifi208 |
A |
T |
1: 173,510,403 (GRCm39) |
E186V |
probably damaging |
Het |
Ift122 |
A |
G |
6: 115,858,517 (GRCm39) |
K166E |
possibly damaging |
Het |
Jcad |
T |
A |
18: 4,675,223 (GRCm39) |
L995Q |
possibly damaging |
Het |
Kcnc4 |
A |
T |
3: 107,365,582 (GRCm39) |
C209S |
probably benign |
Het |
Kmt2a |
G |
A |
9: 44,732,553 (GRCm39) |
|
probably benign |
Het |
Lrriq1 |
T |
A |
10: 102,980,739 (GRCm39) |
L1465F |
probably benign |
Het |
Map3k7 |
C |
A |
4: 31,988,592 (GRCm39) |
T247N |
probably damaging |
Het |
Mctp2 |
T |
G |
7: 71,909,097 (GRCm39) |
Q72P |
possibly damaging |
Het |
Miga1 |
T |
C |
3: 151,996,443 (GRCm39) |
Y335C |
probably benign |
Het |
Ms4a14 |
A |
T |
19: 11,291,641 (GRCm39) |
N19K |
probably benign |
Het |
Mylk |
G |
A |
16: 34,715,295 (GRCm39) |
R541Q |
probably damaging |
Het |
Nav3 |
T |
C |
10: 109,659,413 (GRCm39) |
T735A |
probably benign |
Het |
Nlgn1 |
T |
A |
3: 25,490,194 (GRCm39) |
H511L |
probably damaging |
Het |
Nlrp4a |
A |
T |
7: 26,150,233 (GRCm39) |
E613D |
probably benign |
Het |
Nuf2 |
A |
G |
1: 169,338,037 (GRCm39) |
S247P |
probably damaging |
Het |
Ocstamp |
A |
G |
2: 165,240,102 (GRCm39) |
V28A |
probably benign |
Het |
Odf2 |
A |
C |
2: 29,792,252 (GRCm39) |
E155D |
possibly damaging |
Het |
Odr4 |
A |
G |
1: 150,250,597 (GRCm39) |
C294R |
probably damaging |
Het |
Or2ag13 |
G |
A |
7: 106,473,444 (GRCm39) |
P3S |
probably benign |
Het |
Or8s16 |
T |
C |
15: 98,210,561 (GRCm39) |
N290S |
probably damaging |
Het |
Otud7a |
T |
C |
7: 63,379,658 (GRCm39) |
|
probably null |
Het |
Pacsin2 |
A |
T |
15: 83,269,260 (GRCm39) |
D11E |
probably damaging |
Het |
Pcdhga5 |
G |
A |
18: 37,828,247 (GRCm39) |
V232I |
probably damaging |
Het |
Rag1 |
A |
G |
2: 101,473,861 (GRCm39) |
V427A |
probably damaging |
Het |
Ranbp10 |
A |
T |
8: 106,552,757 (GRCm39) |
C128* |
probably null |
Het |
Rbm8a2 |
A |
G |
1: 175,806,024 (GRCm39) |
V151A |
probably damaging |
Het |
S100pbp |
A |
G |
4: 129,044,726 (GRCm39) |
|
probably benign |
Het |
Serpinb5 |
G |
T |
1: 106,800,069 (GRCm39) |
L86F |
probably damaging |
Het |
Sgo2b |
T |
C |
8: 64,384,448 (GRCm39) |
I183V |
probably benign |
Het |
Slc25a25 |
A |
T |
2: 32,310,422 (GRCm39) |
D112E |
probably damaging |
Het |
Slc30a5 |
C |
T |
13: 100,950,218 (GRCm39) |
V103I |
probably damaging |
Het |
Slc9a2 |
A |
T |
1: 40,758,009 (GRCm39) |
I183F |
probably benign |
Het |
Srrm4 |
T |
A |
5: 116,613,249 (GRCm39) |
K141N |
unknown |
Het |
Tbc1d20 |
T |
C |
2: 152,153,909 (GRCm39) |
|
probably benign |
Het |
Tdpoz6 |
C |
T |
3: 93,599,593 (GRCm39) |
V259M |
probably benign |
Het |
Tep1 |
A |
G |
14: 51,078,759 (GRCm39) |
L1498P |
probably damaging |
Het |
Tgfbi |
T |
C |
13: 56,779,933 (GRCm39) |
M494T |
probably benign |
Het |
Tox |
A |
G |
4: 6,823,033 (GRCm39) |
S95P |
probably benign |
Het |
Tpr |
G |
A |
1: 150,274,359 (GRCm39) |
V163I |
probably benign |
Het |
Trpm7 |
A |
G |
2: 126,700,412 (GRCm39) |
S2P |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,546,429 (GRCm39) |
M32328T |
probably damaging |
Het |
Vps39 |
A |
T |
2: 120,169,040 (GRCm39) |
N289K |
probably benign |
Het |
Xdh |
C |
T |
17: 74,213,210 (GRCm39) |
A847T |
probably damaging |
Het |
Xndc1 |
G |
A |
7: 101,722,523 (GRCm39) |
G63R |
probably null |
Het |
Ythdc2 |
A |
G |
18: 45,018,307 (GRCm39) |
S1330G |
probably benign |
Het |
Zc3h14 |
C |
G |
12: 98,719,107 (GRCm39) |
D157E |
probably damaging |
Het |
Zc3h7b |
A |
T |
15: 81,677,864 (GRCm39) |
K949N |
probably damaging |
Het |
Zp3r |
A |
T |
1: 130,526,649 (GRCm39) |
Y185N |
probably damaging |
Het |
|
Other mutations in Plcb3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01092:Plcb3
|
APN |
19 |
6,932,690 (GRCm39) |
missense |
probably benign |
0.27 |
IGL01370:Plcb3
|
APN |
19 |
6,940,192 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01385:Plcb3
|
APN |
19 |
6,935,276 (GRCm39) |
missense |
probably benign |
|
IGL01511:Plcb3
|
APN |
19 |
6,933,211 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02182:Plcb3
|
APN |
19 |
6,946,988 (GRCm39) |
missense |
probably benign |
0.22 |
IGL02240:Plcb3
|
APN |
19 |
6,935,448 (GRCm39) |
splice site |
probably benign |
|
IGL02350:Plcb3
|
APN |
19 |
6,935,546 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02357:Plcb3
|
APN |
19 |
6,935,546 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02550:Plcb3
|
APN |
19 |
6,937,544 (GRCm39) |
nonsense |
probably null |
|
IGL02866:Plcb3
|
APN |
19 |
6,935,044 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03180:Plcb3
|
APN |
19 |
6,933,521 (GRCm39) |
missense |
probably benign |
0.44 |
IGL03327:Plcb3
|
APN |
19 |
6,932,420 (GRCm39) |
missense |
probably benign |
|
IGL03346:Plcb3
|
APN |
19 |
6,932,420 (GRCm39) |
missense |
probably benign |
|
Multifarious
|
UTSW |
19 |
6,932,071 (GRCm39) |
critical splice donor site |
probably null |
|
R0042:Plcb3
|
UTSW |
19 |
6,943,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R0125:Plcb3
|
UTSW |
19 |
6,936,276 (GRCm39) |
missense |
probably damaging |
1.00 |
R0240:Plcb3
|
UTSW |
19 |
6,940,363 (GRCm39) |
missense |
probably benign |
0.16 |
R0240:Plcb3
|
UTSW |
19 |
6,940,363 (GRCm39) |
missense |
probably benign |
0.16 |
R0724:Plcb3
|
UTSW |
19 |
6,940,760 (GRCm39) |
missense |
probably damaging |
1.00 |
R0781:Plcb3
|
UTSW |
19 |
6,939,281 (GRCm39) |
nonsense |
probably null |
|
R0945:Plcb3
|
UTSW |
19 |
6,932,246 (GRCm39) |
missense |
probably damaging |
1.00 |
R1110:Plcb3
|
UTSW |
19 |
6,939,281 (GRCm39) |
nonsense |
probably null |
|
R1414:Plcb3
|
UTSW |
19 |
6,940,385 (GRCm39) |
missense |
probably damaging |
1.00 |
R1454:Plcb3
|
UTSW |
19 |
6,932,414 (GRCm39) |
missense |
possibly damaging |
0.64 |
R1533:Plcb3
|
UTSW |
19 |
6,935,041 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1652:Plcb3
|
UTSW |
19 |
6,932,664 (GRCm39) |
missense |
probably benign |
0.00 |
R1795:Plcb3
|
UTSW |
19 |
6,933,381 (GRCm39) |
unclassified |
probably benign |
|
R1870:Plcb3
|
UTSW |
19 |
6,940,353 (GRCm39) |
missense |
probably benign |
0.04 |
R1934:Plcb3
|
UTSW |
19 |
6,941,977 (GRCm39) |
missense |
probably damaging |
1.00 |
R3980:Plcb3
|
UTSW |
19 |
6,943,803 (GRCm39) |
missense |
probably damaging |
1.00 |
R4397:Plcb3
|
UTSW |
19 |
6,943,193 (GRCm39) |
missense |
probably damaging |
0.96 |
R4533:Plcb3
|
UTSW |
19 |
6,933,640 (GRCm39) |
missense |
probably benign |
0.08 |
R4576:Plcb3
|
UTSW |
19 |
6,936,415 (GRCm39) |
splice site |
probably benign |
|
R4903:Plcb3
|
UTSW |
19 |
6,933,211 (GRCm39) |
missense |
probably damaging |
0.99 |
R5093:Plcb3
|
UTSW |
19 |
6,943,578 (GRCm39) |
missense |
probably damaging |
1.00 |
R5555:Plcb3
|
UTSW |
19 |
6,943,587 (GRCm39) |
missense |
probably benign |
0.19 |
R5593:Plcb3
|
UTSW |
19 |
6,932,117 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5626:Plcb3
|
UTSW |
19 |
6,932,643 (GRCm39) |
missense |
probably benign |
0.24 |
R5661:Plcb3
|
UTSW |
19 |
6,940,588 (GRCm39) |
missense |
probably damaging |
1.00 |
R5713:Plcb3
|
UTSW |
19 |
6,935,060 (GRCm39) |
missense |
probably damaging |
0.99 |
R5741:Plcb3
|
UTSW |
19 |
6,931,790 (GRCm39) |
nonsense |
probably null |
|
R6025:Plcb3
|
UTSW |
19 |
6,933,547 (GRCm39) |
missense |
probably benign |
0.03 |
R6063:Plcb3
|
UTSW |
19 |
6,940,202 (GRCm39) |
missense |
possibly damaging |
0.69 |
R6155:Plcb3
|
UTSW |
19 |
6,943,533 (GRCm39) |
missense |
probably damaging |
1.00 |
R6157:Plcb3
|
UTSW |
19 |
6,943,533 (GRCm39) |
missense |
probably damaging |
1.00 |
R6178:Plcb3
|
UTSW |
19 |
6,932,071 (GRCm39) |
critical splice donor site |
probably null |
|
R7085:Plcb3
|
UTSW |
19 |
6,937,501 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7117:Plcb3
|
UTSW |
19 |
6,941,746 (GRCm39) |
missense |
probably damaging |
1.00 |
R7134:Plcb3
|
UTSW |
19 |
6,942,698 (GRCm39) |
missense |
probably damaging |
1.00 |
R7153:Plcb3
|
UTSW |
19 |
6,935,452 (GRCm39) |
critical splice donor site |
probably null |
|
R7316:Plcb3
|
UTSW |
19 |
6,943,753 (GRCm39) |
critical splice donor site |
probably null |
|
R7366:Plcb3
|
UTSW |
19 |
6,939,389 (GRCm39) |
missense |
probably benign |
|
R7399:Plcb3
|
UTSW |
19 |
6,940,235 (GRCm39) |
missense |
probably benign |
|
R7736:Plcb3
|
UTSW |
19 |
6,946,991 (GRCm39) |
missense |
probably benign |
0.00 |
R8057:Plcb3
|
UTSW |
19 |
6,936,267 (GRCm39) |
missense |
probably damaging |
0.99 |
R8057:Plcb3
|
UTSW |
19 |
6,932,463 (GRCm39) |
missense |
probably benign |
|
R8376:Plcb3
|
UTSW |
19 |
6,944,071 (GRCm39) |
missense |
probably damaging |
0.99 |
R9103:Plcb3
|
UTSW |
19 |
6,936,288 (GRCm39) |
missense |
probably benign |
0.06 |
R9292:Plcb3
|
UTSW |
19 |
6,942,042 (GRCm39) |
missense |
probably damaging |
1.00 |
R9366:Plcb3
|
UTSW |
19 |
6,937,658 (GRCm39) |
critical splice donor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TATTCTTCACCAGGATACGGCC -3'
(R):5'- ACCATGTCGACTCGTGAGTG -3'
Sequencing Primer
(F):5'- AGGATACGGCCCATCAGGTC -3'
(R):5'- TGCCCTGGGAATCTCTAGAGAG -3'
|
Posted On |
2016-02-04 |