Incidental Mutation 'IGL01511:Plcb3'
| ID |
89226 |
| 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 # |
IGL01511
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
6931081-6951738 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 6933211 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 970
(R970L)
|
| 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 damaging
Transcript: ENSMUST00000025912
AA Change: R970L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000025912
Gene: ENSMUSG00000024960
AA Change: R970L
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
A |
T |
11: 110,135,136 (GRCm39) |
D216E |
probably benign |
Het |
| Abcc4 |
C |
A |
14: 118,836,753 (GRCm39) |
L669F |
probably benign |
Het |
| Adam29 |
C |
T |
8: 56,324,456 (GRCm39) |
G666D |
probably damaging |
Het |
| Adat2 |
T |
G |
10: 13,435,982 (GRCm39) |
M109R |
probably null |
Het |
| Atf3 |
T |
A |
1: 190,903,693 (GRCm39) |
T178S |
probably benign |
Het |
| Birc6 |
T |
A |
17: 74,933,998 (GRCm39) |
Y2522* |
probably null |
Het |
| Ccr8 |
G |
A |
9: 119,923,691 (GRCm39) |
G269R |
probably damaging |
Het |
| Ces1a |
G |
T |
8: 93,771,726 (GRCm39) |
P24T |
probably damaging |
Het |
| Chrna4 |
C |
T |
2: 180,670,461 (GRCm39) |
V432I |
probably benign |
Het |
| Commd8 |
A |
G |
5: 72,322,722 (GRCm39) |
V65A |
probably benign |
Het |
| Cyp2j13 |
A |
G |
4: 95,965,552 (GRCm39) |
F52L |
possibly damaging |
Het |
| Desi1 |
T |
A |
15: 81,886,789 (GRCm39) |
K45* |
probably null |
Het |
| Dmbt1 |
T |
A |
7: 130,718,457 (GRCm39) |
M1552K |
possibly damaging |
Het |
| Dna2 |
G |
A |
10: 62,791,093 (GRCm39) |
M197I |
possibly damaging |
Het |
| Dnah7a |
A |
C |
1: 53,458,754 (GRCm39) |
L3795V |
probably damaging |
Het |
| Dnai4 |
T |
C |
4: 102,905,558 (GRCm39) |
D741G |
possibly damaging |
Het |
| Fam221b |
T |
C |
4: 43,660,135 (GRCm39) |
|
probably null |
Het |
| Fbxw18 |
A |
T |
9: 109,517,889 (GRCm39) |
S366T |
possibly damaging |
Het |
| Fzd8 |
A |
G |
18: 9,213,293 (GRCm39) |
Y125C |
unknown |
Het |
| Gcsam |
T |
C |
16: 45,436,315 (GRCm39) |
Y11H |
probably damaging |
Het |
| Gucy2f |
G |
T |
X: 140,944,730 (GRCm39) |
D410E |
probably damaging |
Het |
| Hdac3 |
C |
T |
18: 38,085,648 (GRCm39) |
A53T |
probably benign |
Het |
| Lamp2 |
A |
G |
X: 37,520,752 (GRCm39) |
L244P |
probably damaging |
Het |
| Lrrk1 |
A |
T |
7: 65,915,198 (GRCm39) |
F1630Y |
possibly damaging |
Het |
| M1ap |
C |
A |
6: 83,005,393 (GRCm39) |
D434E |
probably benign |
Het |
| Mcmbp |
A |
G |
7: 128,308,888 (GRCm39) |
Y378H |
probably damaging |
Het |
| Mvb12a |
T |
A |
8: 71,997,946 (GRCm39) |
V120E |
probably damaging |
Het |
| Nbeal2 |
A |
C |
9: 110,458,302 (GRCm39) |
W2063G |
probably damaging |
Het |
| Neto1 |
A |
C |
18: 86,414,033 (GRCm39) |
H9P |
possibly damaging |
Het |
| Nmu |
C |
T |
5: 76,488,668 (GRCm39) |
V126M |
probably damaging |
Het |
| Odf2 |
T |
C |
2: 29,804,321 (GRCm39) |
|
probably benign |
Het |
| Or2y15 |
A |
G |
11: 49,351,043 (GRCm39) |
E179G |
probably damaging |
Het |
| Pdzrn3 |
T |
C |
6: 101,130,217 (GRCm39) |
H533R |
possibly damaging |
Het |
| Pikfyve |
G |
T |
1: 65,298,028 (GRCm39) |
E1586* |
probably null |
Het |
| Plxna3 |
A |
G |
X: 73,378,914 (GRCm39) |
E686G |
probably damaging |
Het |
| Polrmt |
T |
A |
10: 79,575,985 (GRCm39) |
Y586F |
probably benign |
Het |
| Ppt1 |
T |
A |
4: 122,748,218 (GRCm39) |
F225I |
probably damaging |
Het |
| Prcc |
T |
G |
3: 87,779,548 (GRCm39) |
D162A |
probably damaging |
Het |
| Ripor1 |
T |
C |
8: 106,346,562 (GRCm39) |
|
probably benign |
Het |
| Rnaseh1 |
A |
G |
12: 28,709,008 (GRCm39) |
H263R |
probably damaging |
Het |
| Rnf19b |
T |
A |
4: 128,974,211 (GRCm39) |
S490R |
probably damaging |
Het |
| Slc15a2 |
T |
A |
16: 36,605,088 (GRCm39) |
T23S |
probably damaging |
Het |
| Slc34a1 |
T |
C |
13: 24,003,121 (GRCm39) |
|
probably null |
Het |
| Slc35f4 |
T |
C |
14: 49,536,334 (GRCm39) |
M434V |
probably benign |
Het |
| Slc52a3 |
C |
T |
2: 151,846,564 (GRCm39) |
T175I |
probably benign |
Het |
| Slc5a2 |
C |
T |
7: 127,869,794 (GRCm39) |
T409M |
probably benign |
Het |
| Tbc1d24 |
A |
G |
17: 24,400,892 (GRCm39) |
S108P |
probably benign |
Het |
| Thnsl2 |
T |
G |
6: 71,116,777 (GRCm39) |
Q125P |
probably benign |
Het |
| Ttc13 |
T |
C |
8: 125,403,110 (GRCm39) |
D672G |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,584,089 (GRCm39) |
H14013N |
possibly damaging |
Het |
| Unc5a |
T |
C |
13: 55,152,629 (GRCm39) |
F792L |
probably damaging |
Het |
| Vac14 |
T |
C |
8: 111,439,430 (GRCm39) |
V669A |
possibly damaging |
Het |
| Vmn1r13 |
A |
T |
6: 57,187,314 (GRCm39) |
M158L |
probably benign |
Het |
| Vmn1r220 |
A |
T |
13: 23,368,384 (GRCm39) |
V104D |
probably damaging |
Het |
| Zfp738 |
A |
T |
13: 67,831,520 (GRCm39) |
|
probably null |
Het |
| Zscan5b |
A |
C |
7: 6,234,421 (GRCm39) |
H149P |
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 |
|
|
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 |
|
|
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 |
2013-12-03 |
Incidental Mutation