Incidental Mutation 'R1652:Plcb3'
| ID |
188826 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcb3
|
| Ensembl Gene |
ENSMUSG00000024960 |
| Gene Name |
phospholipase C, beta 3 |
| Synonyms |
|
| MMRRC Submission |
039688-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.671)
|
| Stock # |
R1652 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
6931081-6951738 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 6932664 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 1034
(F1034L)
|
| 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: F1034L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000025912
Gene: ENSMUSG00000024960
AA Change: F1034L
| 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 |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.6%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam2 |
T |
A |
14: 66,314,700 (GRCm39) |
E37V |
probably benign |
Het |
| Adamts7 |
A |
G |
9: 90,071,697 (GRCm39) |
D664G |
probably damaging |
Het |
| Adamtsl5 |
A |
G |
10: 80,178,011 (GRCm39) |
V256A |
probably benign |
Het |
| Adrb1 |
C |
T |
19: 56,711,705 (GRCm39) |
S301L |
possibly damaging |
Het |
| Akap9 |
A |
G |
5: 4,127,210 (GRCm39) |
Y3686C |
probably damaging |
Het |
| Ap3b2 |
A |
G |
7: 81,123,147 (GRCm39) |
S456P |
probably damaging |
Het |
| Atp1a4 |
T |
C |
1: 172,082,470 (GRCm39) |
Y124C |
probably damaging |
Het |
| Bdkrb1 |
A |
T |
12: 105,570,502 (GRCm39) |
T23S |
probably damaging |
Het |
| Cacna1g |
A |
G |
11: 94,318,230 (GRCm39) |
Y1468H |
probably damaging |
Het |
| Cep170b |
A |
G |
12: 112,699,947 (GRCm39) |
D152G |
probably damaging |
Het |
| Cers4 |
T |
A |
8: 4,566,908 (GRCm39) |
|
probably null |
Het |
| Cplane1 |
G |
T |
15: 8,230,630 (GRCm39) |
R969L |
probably damaging |
Het |
| Cyp2t4 |
A |
T |
7: 26,856,815 (GRCm39) |
D285V |
possibly damaging |
Het |
| Ddx56 |
A |
T |
11: 6,217,679 (GRCm39) |
L14Q |
probably damaging |
Het |
| Dennd2d |
C |
A |
3: 106,394,317 (GRCm39) |
R63S |
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,214,550 (GRCm39) |
L1105* |
probably null |
Het |
| Eef1e1 |
A |
T |
13: 38,840,081 (GRCm39) |
L75I |
possibly damaging |
Het |
| Eif1ad11 |
T |
A |
12: 87,993,853 (GRCm39) |
V27E |
probably benign |
Het |
| Fam76b |
A |
G |
9: 13,747,188 (GRCm39) |
S191G |
probably benign |
Het |
| Fat1 |
T |
A |
8: 45,478,215 (GRCm39) |
Y2420* |
probably null |
Het |
| Fbxw18 |
T |
A |
9: 109,519,695 (GRCm39) |
L270F |
probably benign |
Het |
| Fech |
T |
A |
18: 64,591,269 (GRCm39) |
H385L |
probably benign |
Het |
| Fkbp4 |
A |
T |
6: 128,413,637 (GRCm39) |
I2N |
probably damaging |
Het |
| Gda |
A |
T |
19: 21,378,042 (GRCm39) |
M339K |
probably damaging |
Het |
| Gdpgp1 |
T |
A |
7: 79,889,112 (GRCm39) |
M381K |
probably benign |
Het |
| Glyctk |
C |
A |
9: 106,034,356 (GRCm39) |
V173L |
probably damaging |
Het |
| Gtf2ird1 |
G |
A |
5: 134,424,567 (GRCm39) |
P393L |
probably damaging |
Het |
| Kat2a |
T |
C |
11: 100,599,437 (GRCm39) |
N517D |
probably damaging |
Het |
| Krt84 |
G |
A |
15: 101,434,398 (GRCm39) |
S523F |
possibly damaging |
Het |
| Lama1 |
G |
A |
17: 68,114,841 (GRCm39) |
R2330Q |
probably damaging |
Het |
| Lamc1 |
C |
T |
1: 153,125,392 (GRCm39) |
G597E |
probably damaging |
Het |
| Lekr1 |
A |
T |
3: 65,591,508 (GRCm39) |
S82C |
probably benign |
Het |
| Lgi3 |
T |
C |
14: 70,768,656 (GRCm39) |
F51S |
probably damaging |
Het |
| Lrba |
T |
C |
3: 86,447,245 (GRCm39) |
S2030P |
probably damaging |
Het |
| Map4k5 |
A |
G |
12: 69,877,201 (GRCm39) |
|
probably null |
Het |
| Mcoln2 |
C |
A |
3: 145,869,390 (GRCm39) |
R32S |
possibly damaging |
Het |
| Metap1 |
A |
T |
3: 138,168,151 (GRCm39) |
F324L |
probably damaging |
Het |
| Moxd2 |
C |
T |
6: 40,864,337 (GRCm39) |
R31H |
probably damaging |
Het |
| Ncf4 |
T |
A |
15: 78,145,234 (GRCm39) |
M274K |
possibly damaging |
Het |
| Nup205 |
T |
G |
6: 35,215,901 (GRCm39) |
V1747G |
probably benign |
Het |
| Or10d3 |
G |
A |
9: 39,461,591 (GRCm39) |
T192I |
probably benign |
Het |
| Or52r1c |
A |
G |
7: 102,735,013 (GRCm39) |
D91G |
probably benign |
Het |
| Or5ae1 |
T |
C |
7: 84,565,728 (GRCm39) |
V247A |
probably damaging |
Het |
| Pbx3 |
C |
T |
2: 34,114,568 (GRCm39) |
G122D |
probably damaging |
Het |
| Ppp2r1a |
G |
A |
17: 21,176,236 (GRCm39) |
V153I |
probably benign |
Het |
| Prss33 |
C |
G |
17: 24,054,115 (GRCm39) |
M30I |
probably benign |
Het |
| Prss33 |
A |
T |
17: 24,054,116 (GRCm39) |
M30K |
probably benign |
Het |
| R3hdm2 |
G |
A |
10: 127,330,960 (GRCm39) |
S793N |
probably benign |
Het |
| Rab11fip5 |
C |
T |
6: 85,325,279 (GRCm39) |
V343M |
probably damaging |
Het |
| Rere |
A |
G |
4: 150,696,522 (GRCm39) |
|
probably benign |
Het |
| Rims1 |
G |
T |
1: 22,363,090 (GRCm39) |
P52Q |
probably damaging |
Het |
| Scpep1 |
G |
T |
11: 88,843,260 (GRCm39) |
S66* |
probably null |
Het |
| Setd2 |
A |
G |
9: 110,378,932 (GRCm39) |
S632G |
probably benign |
Het |
| Shc3 |
A |
T |
13: 51,626,875 (GRCm39) |
H129Q |
probably damaging |
Het |
| Slc22a20 |
A |
T |
19: 6,022,970 (GRCm39) |
M391K |
probably damaging |
Het |
| Smurf1 |
A |
T |
5: 144,817,474 (GRCm39) |
I712K |
probably damaging |
Het |
| Snx25 |
T |
A |
8: 46,502,510 (GRCm39) |
I629L |
probably damaging |
Het |
| Supt16 |
A |
C |
14: 52,414,637 (GRCm39) |
V425G |
probably benign |
Het |
| Tnik |
G |
A |
3: 28,658,442 (GRCm39) |
V576I |
probably benign |
Het |
| Trcg1 |
A |
C |
9: 57,152,856 (GRCm39) |
D551A |
probably damaging |
Het |
| Ubald2 |
A |
G |
11: 116,325,178 (GRCm39) |
N15S |
probably damaging |
Het |
| Usf1 |
T |
C |
1: 171,245,317 (GRCm39) |
I243T |
probably damaging |
Het |
| Vmn2r19 |
A |
T |
6: 123,292,656 (GRCm39) |
I233F |
possibly damaging |
Het |
| Vmn2r63 |
T |
C |
7: 42,577,635 (GRCm39) |
N301S |
probably benign |
Het |
| Wdr27 |
A |
G |
17: 15,137,532 (GRCm39) |
F419L |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TATCCAGGACAACCTCCTTGAGCC -3'
(R):5'- AGCTGTGTGAAGTGTGAAGCTAACG -3'
Sequencing Primer
(F):5'- TCCTTGAGCCGCTGATGAG -3'
(R):5'- TGCTGGCCCTTGCTAGG -3'
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| Posted On |
2014-05-09 |
Incidental Mutation