Incidental Mutation 'IGL03327:Plcb3'
ID |
416676 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Plcb3
|
Ensembl Gene |
ENSMUSG00000024960 |
Gene Name |
phospholipase C, beta 3 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.671)
|
Stock # |
IGL03327
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
6931081-6951738 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 6932420 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 1080
(F1080L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025912
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025910]
[ENSMUST00000025912]
[ENSMUST00000113423]
[ENSMUST00000113426]
|
AlphaFold |
P51432 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025910
|
SMART Domains |
Protein: ENSMUSP00000025910 Gene: ENSMUSG00000024959
Domain | Start | End | E-Value | Type |
Pfam:Bcl-2_BAD
|
43 |
204 |
5e-93 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000025912
AA Change: F1080L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000025912 Gene: ENSMUSG00000024960 AA Change: F1080L
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113423
|
SMART Domains |
Protein: ENSMUSP00000109050 Gene: ENSMUSG00000024959
Domain | Start | End | E-Value | Type |
Pfam:Bcl-2_BAD
|
1 |
162 |
9.1e-92 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113426
|
SMART Domains |
Protein: ENSMUSP00000109053 Gene: ENSMUSG00000024959
Domain | Start | End | E-Value | Type |
Pfam:Bcl-2_BAD
|
43 |
172 |
5.7e-66 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141410
|
SMART Domains |
Protein: ENSMUSP00000114597 Gene: ENSMUSG00000024959
Domain | Start | End | E-Value | Type |
Pfam:Bcl-2_BAD
|
1 |
134 |
2.9e-62 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145463
|
SMART Domains |
Protein: ENSMUSP00000121778 Gene: ENSMUSG00000024959
Domain | Start | End | E-Value | Type |
Pfam:Bcl-2_BAD
|
1 |
51 |
1.4e-11 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy8 |
T |
C |
15: 64,792,116 (GRCm39) |
Y280C |
probably damaging |
Het |
Anapc1 |
T |
C |
2: 128,465,854 (GRCm39) |
T1647A |
probably benign |
Het |
Ano3 |
T |
C |
2: 110,527,523 (GRCm39) |
I562V |
possibly damaging |
Het |
Ash1l |
C |
T |
3: 88,930,390 (GRCm39) |
P1956S |
probably benign |
Het |
Ccdc9b |
T |
C |
2: 118,592,151 (GRCm39) |
N79S |
probably damaging |
Het |
Cd160 |
C |
T |
3: 96,712,849 (GRCm39) |
|
probably null |
Het |
Chd3 |
G |
T |
11: 69,241,012 (GRCm39) |
A1527E |
probably damaging |
Het |
Clcn1 |
C |
T |
6: 42,288,153 (GRCm39) |
T797I |
probably benign |
Het |
Cntnap3 |
G |
A |
13: 65,035,582 (GRCm39) |
Q44* |
probably null |
Het |
Cntnap4 |
A |
G |
8: 113,500,208 (GRCm39) |
D500G |
probably benign |
Het |
Col6a6 |
T |
C |
9: 105,644,433 (GRCm39) |
D1285G |
possibly damaging |
Het |
Cr2 |
A |
T |
1: 194,852,067 (GRCm39) |
V94E |
probably damaging |
Het |
Dcaf1 |
T |
C |
9: 106,735,823 (GRCm39) |
S924P |
possibly damaging |
Het |
Eif5b |
T |
C |
1: 38,080,772 (GRCm39) |
|
probably benign |
Het |
Fat1 |
A |
C |
8: 45,403,505 (GRCm39) |
K85N |
probably damaging |
Het |
Fnip2 |
T |
C |
3: 79,425,388 (GRCm39) |
E69G |
probably damaging |
Het |
Fzr1 |
T |
C |
10: 81,205,018 (GRCm39) |
T300A |
probably benign |
Het |
Galc |
A |
G |
12: 98,173,735 (GRCm39) |
|
probably benign |
Het |
Gm17079 |
T |
C |
14: 51,930,420 (GRCm39) |
T142A |
possibly damaging |
Het |
Hibch |
G |
A |
1: 52,959,539 (GRCm39) |
|
probably benign |
Het |
Hmmr |
A |
G |
11: 40,606,242 (GRCm39) |
C243R |
probably damaging |
Het |
Il25 |
T |
C |
14: 55,172,817 (GRCm39) |
|
probably benign |
Het |
Kif5b |
G |
A |
18: 6,222,767 (GRCm39) |
R355W |
probably damaging |
Het |
Kifc3 |
C |
T |
8: 95,835,060 (GRCm39) |
D242N |
probably damaging |
Het |
Lig1 |
T |
G |
7: 13,037,781 (GRCm39) |
I677S |
probably damaging |
Het |
Lrig1 |
G |
T |
6: 94,583,104 (GRCm39) |
A1004E |
probably benign |
Het |
Nras |
A |
G |
3: 102,966,340 (GRCm39) |
T35A |
probably damaging |
Het |
Nt5c1b |
C |
T |
12: 10,424,861 (GRCm39) |
Q136* |
probably null |
Het |
Or4f54 |
A |
T |
2: 111,122,807 (GRCm39) |
N65Y |
probably damaging |
Het |
Or6c217 |
T |
G |
10: 129,738,451 (GRCm39) |
I43L |
possibly damaging |
Het |
Or8k1 |
C |
T |
2: 86,047,618 (GRCm39) |
W145* |
probably null |
Het |
Plpp2 |
T |
C |
10: 79,366,818 (GRCm39) |
|
probably null |
Het |
Ptpre |
G |
A |
7: 135,274,551 (GRCm39) |
|
probably null |
Het |
Scn3a |
G |
A |
2: 65,367,016 (GRCm39) |
A2V |
probably damaging |
Het |
Sh3bp4 |
C |
A |
1: 89,071,885 (GRCm39) |
Y244* |
probably null |
Het |
Trip11 |
A |
T |
12: 101,849,677 (GRCm39) |
N1462K |
possibly damaging |
Het |
Ttc21b |
T |
C |
2: 66,068,192 (GRCm39) |
D278G |
possibly damaging |
Het |
Virma |
A |
G |
4: 11,518,984 (GRCm39) |
T694A |
probably benign |
Het |
Wdr35 |
T |
C |
12: 9,028,694 (GRCm39) |
|
probably benign |
Het |
Xdh |
T |
C |
17: 74,223,787 (GRCm39) |
E535G |
probably benign |
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 |
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 |
|
R4815:Plcb3
|
UTSW |
19 |
6,940,352 (GRCm39) |
missense |
possibly damaging |
0.59 |
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 |
|
|
Posted On |
2016-08-02 |