Incidental Mutation 'IGL03180:Plcb3'
| ID |
412185 |
| 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: 0.702)
|
| Stock # |
IGL03180
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
6931081-6951738 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 6933521 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 935
(S935G)
|
| 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: S935G
PolyPhen 2
Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000025912
Gene: ENSMUSG00000024960
AA Change: S935G
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp6 |
T |
C |
3: 97,082,951 (GRCm39) |
Y321H |
probably benign |
Het |
| Adam28 |
T |
A |
14: 68,874,883 (GRCm39) |
I265L |
probably damaging |
Het |
| Adcy8 |
T |
C |
15: 64,655,799 (GRCm39) |
D560G |
possibly damaging |
Het |
| Aff3 |
A |
G |
1: 38,574,743 (GRCm39) |
M79T |
probably damaging |
Het |
| Ahctf1 |
A |
G |
1: 179,602,895 (GRCm39) |
|
probably null |
Het |
| Aspn |
C |
T |
13: 49,716,991 (GRCm39) |
R256W |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,966,226 (GRCm39) |
V4051A |
probably benign |
Het |
| Cfap46 |
G |
A |
7: 139,183,168 (GRCm39) |
L2584F |
unknown |
Het |
| Chdh |
T |
A |
14: 29,756,559 (GRCm39) |
|
probably null |
Het |
| Clasp1 |
A |
G |
1: 118,433,255 (GRCm39) |
T245A |
probably benign |
Het |
| Clec4a1 |
G |
A |
6: 122,901,777 (GRCm39) |
V70I |
probably benign |
Het |
| Cpt2 |
A |
T |
4: 107,764,157 (GRCm39) |
S536T |
probably damaging |
Het |
| Dnah9 |
A |
T |
11: 65,777,465 (GRCm39) |
H3694Q |
probably damaging |
Het |
| Dntt |
T |
A |
19: 41,017,990 (GRCm39) |
F38Y |
probably benign |
Het |
| Dync2i1 |
T |
C |
12: 116,182,485 (GRCm39) |
S706G |
probably benign |
Het |
| Eif4ebp2 |
T |
C |
10: 61,269,589 (GRCm39) |
E117G |
probably damaging |
Het |
| Eif5b |
T |
C |
1: 38,075,350 (GRCm39) |
I609T |
probably damaging |
Het |
| Esam |
G |
A |
9: 37,445,866 (GRCm39) |
G135S |
probably damaging |
Het |
| Fut7 |
C |
A |
2: 25,315,465 (GRCm39) |
A241D |
possibly damaging |
Het |
| Grin2d |
T |
A |
7: 45,502,753 (GRCm39) |
K706M |
probably damaging |
Het |
| Grip2 |
A |
G |
6: 91,762,742 (GRCm39) |
|
probably benign |
Het |
| Gtf2ird2 |
A |
G |
5: 134,220,087 (GRCm39) |
T22A |
probably damaging |
Het |
| Hadh |
T |
C |
3: 131,065,533 (GRCm39) |
I42V |
probably benign |
Het |
| Iqsec3 |
T |
A |
6: 121,390,467 (GRCm39) |
|
probably benign |
Het |
| Izumo3 |
G |
A |
4: 92,034,524 (GRCm39) |
|
probably benign |
Het |
| Ldlrad1 |
G |
T |
4: 107,075,032 (GRCm39) |
C193F |
probably damaging |
Het |
| Lgals4 |
G |
A |
7: 28,537,053 (GRCm39) |
G118R |
probably damaging |
Het |
| Map4k1 |
A |
C |
7: 28,687,510 (GRCm39) |
E136A |
probably damaging |
Het |
| Mapk8ip1 |
G |
T |
2: 92,217,257 (GRCm39) |
P346Q |
possibly damaging |
Het |
| Mrtfb |
A |
G |
16: 13,216,196 (GRCm39) |
K303E |
probably damaging |
Het |
| Nlrp14 |
T |
A |
7: 106,781,833 (GRCm39) |
H343Q |
probably benign |
Het |
| Ogg1 |
T |
G |
6: 113,310,455 (GRCm39) |
|
probably null |
Het |
| Or12k8 |
C |
T |
2: 36,975,722 (GRCm39) |
V13M |
possibly damaging |
Het |
| Or5m10 |
A |
T |
2: 85,717,740 (GRCm39) |
M199L |
probably benign |
Het |
| Pacc1 |
G |
T |
1: 191,071,089 (GRCm39) |
V82F |
probably damaging |
Het |
| Pafah1b1 |
A |
T |
11: 74,574,344 (GRCm39) |
C281S |
possibly damaging |
Het |
| Papss1 |
C |
T |
3: 131,313,143 (GRCm39) |
R386W |
probably damaging |
Het |
| Pex5 |
A |
G |
6: 124,390,522 (GRCm39) |
|
probably benign |
Het |
| Pibf1 |
C |
A |
14: 99,370,780 (GRCm39) |
Q261K |
probably benign |
Het |
| Polg |
A |
G |
7: 79,101,601 (GRCm39) |
|
probably benign |
Het |
| Ptpdc1 |
G |
A |
13: 48,739,553 (GRCm39) |
T626I |
probably damaging |
Het |
| Rab34 |
A |
T |
11: 78,081,144 (GRCm39) |
Y87F |
probably damaging |
Het |
| Rsrc1 |
T |
G |
3: 66,989,876 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,583,449 (GRCm39) |
N4735S |
possibly damaging |
Het |
| Scn7a |
T |
C |
2: 66,506,578 (GRCm39) |
D1437G |
possibly damaging |
Het |
| Sdk1 |
A |
G |
5: 142,071,497 (GRCm39) |
E1229G |
probably damaging |
Het |
| Sez6l |
A |
T |
5: 112,584,151 (GRCm39) |
V806D |
probably damaging |
Het |
| Sgsm2 |
A |
C |
11: 74,759,401 (GRCm39) |
|
probably null |
Het |
| Sla |
A |
G |
15: 66,661,569 (GRCm39) |
I121T |
probably benign |
Het |
| Son |
T |
C |
16: 91,453,896 (GRCm39) |
L881S |
probably damaging |
Het |
| Srms |
A |
G |
2: 180,854,573 (GRCm39) |
|
probably benign |
Het |
| Stoml1 |
T |
C |
9: 58,168,200 (GRCm39) |
S304P |
probably damaging |
Het |
| Stt3a |
T |
C |
9: 36,670,552 (GRCm39) |
D73G |
probably damaging |
Het |
| Tpp1 |
T |
C |
7: 105,395,856 (GRCm39) |
T558A |
probably benign |
Het |
| Trp53i13 |
T |
C |
11: 77,403,528 (GRCm39) |
|
probably benign |
Het |
| Vmn2r77 |
A |
G |
7: 86,450,843 (GRCm39) |
Y243C |
possibly damaging |
Het |
| Vwde |
T |
C |
6: 13,205,764 (GRCm39) |
D261G |
probably damaging |
Het |
| Zfpm2 |
A |
G |
15: 40,964,790 (GRCm39) |
K293R |
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 |
|
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 |
2016-08-02 |
Incidental Mutation