Incidental Mutation 'R5741:Plcb3'
| ID |
444818 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcb3
|
| Ensembl Gene |
ENSMUSG00000024960 |
| Gene Name |
phospholipase C, beta 3 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.702)
|
| Stock # |
R5741 (G1)
|
| Quality Score |
176 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
6931081-6951738 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 6931790 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 1154
(Q1154*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025912
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025910]
[ENSMUST00000025912]
[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 null
Transcript: ENSMUST00000025912
AA Change: Q1154*
|
| SMART Domains |
Protein: ENSMUSP00000025912
Gene: ENSMUSG00000024960
AA Change: Q1154*
| 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 null
Transcript: ENSMUST00000025912
AA Change: Q1154*
|
| SMART Domains |
Protein: ENSMUSP00000025912
Gene: ENSMUSG00000024960
AA Change: Q1154*
| 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: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810010H24Rik |
T |
G |
11: 106,919,315 (GRCm39) |
F220C |
probably damaging |
Het |
| Acox3 |
C |
T |
5: 35,765,668 (GRCm39) |
H140Y |
probably benign |
Het |
| Ano3 |
A |
T |
2: 110,488,618 (GRCm39) |
I938K |
probably benign |
Het |
| Ap3m1 |
A |
C |
14: 21,095,788 (GRCm39) |
I14S |
possibly damaging |
Het |
| Arg1 |
T |
C |
10: 24,793,897 (GRCm39) |
T127A |
probably benign |
Het |
| Asah2 |
A |
G |
19: 31,986,015 (GRCm39) |
Y552H |
probably damaging |
Het |
| Cfap97d2 |
A |
T |
8: 13,784,835 (GRCm39) |
Q32L |
possibly damaging |
Het |
| Chst12 |
A |
G |
5: 140,509,688 (GRCm39) |
N105S |
probably benign |
Het |
| Cped1 |
G |
A |
6: 22,123,620 (GRCm39) |
V458I |
probably benign |
Het |
| Cyld |
T |
G |
8: 89,471,474 (GRCm39) |
I786S |
probably damaging |
Het |
| Cyp2j8 |
C |
T |
4: 96,332,880 (GRCm39) |
V489I |
probably benign |
Het |
| Dlgap4 |
T |
C |
2: 156,552,968 (GRCm39) |
Y462H |
probably damaging |
Het |
| Dnah5 |
C |
A |
15: 28,246,513 (GRCm39) |
A617D |
probably benign |
Het |
| Erc2 |
T |
A |
14: 28,024,826 (GRCm39) |
|
probably null |
Het |
| Fancm |
A |
G |
12: 65,148,389 (GRCm39) |
N668S |
probably benign |
Het |
| Gm5592 |
A |
G |
7: 40,938,625 (GRCm39) |
I636V |
probably benign |
Het |
| Gtf2h2 |
A |
T |
13: 100,617,066 (GRCm39) |
C247S |
probably benign |
Het |
| Hyal5 |
T |
A |
6: 24,876,494 (GRCm39) |
H122Q |
probably damaging |
Het |
| Ints10 |
G |
A |
8: 69,257,574 (GRCm39) |
R258K |
probably damaging |
Het |
| Kir3dl1 |
G |
A |
X: 135,427,231 (GRCm39) |
D56N |
probably damaging |
Het |
| Lrguk |
T |
A |
6: 34,025,802 (GRCm39) |
D199E |
probably damaging |
Het |
| Lyst |
A |
G |
13: 13,808,615 (GRCm39) |
D95G |
probably benign |
Het |
| Map2k1 |
A |
T |
9: 64,121,883 (GRCm39) |
L30Q |
possibly damaging |
Het |
| Nell1 |
G |
A |
7: 50,210,638 (GRCm39) |
|
probably null |
Het |
| Nfatc3 |
T |
A |
8: 106,805,698 (GRCm39) |
I181N |
probably damaging |
Het |
| Nipbl |
T |
C |
15: 8,354,133 (GRCm39) |
K1668R |
possibly damaging |
Het |
| Or5b113 |
A |
G |
19: 13,342,847 (GRCm39) |
N285S |
probably damaging |
Het |
| Or7e170 |
A |
G |
9: 19,794,857 (GRCm39) |
V248A |
possibly damaging |
Het |
| Or8d2 |
T |
A |
9: 38,759,899 (GRCm39) |
L163* |
probably null |
Het |
| Otud7b |
C |
T |
3: 96,051,615 (GRCm39) |
T189I |
probably damaging |
Het |
| Pkia |
A |
T |
3: 7,507,105 (GRCm39) |
E62D |
probably benign |
Het |
| Pole4 |
T |
C |
6: 82,628,447 (GRCm39) |
E105G |
probably damaging |
Het |
| Ppp1r3a |
A |
G |
6: 14,719,882 (GRCm39) |
V344A |
probably damaging |
Het |
| Ptpn21 |
A |
T |
12: 98,645,548 (GRCm39) |
L1130Q |
probably damaging |
Het |
| Rapgef5 |
A |
G |
12: 117,719,764 (GRCm39) |
D564G |
probably damaging |
Het |
| Samhd1 |
C |
T |
2: 156,954,751 (GRCm39) |
R387H |
probably benign |
Het |
| Spag1 |
A |
G |
15: 36,183,849 (GRCm39) |
K65E |
possibly damaging |
Het |
| Spata31d1d |
A |
T |
13: 59,876,500 (GRCm39) |
V345D |
possibly damaging |
Het |
| Spin1 |
G |
A |
13: 51,303,171 (GRCm39) |
V255I |
possibly damaging |
Het |
| Tmem171 |
A |
G |
13: 98,828,559 (GRCm39) |
V197A |
probably benign |
Het |
| Tmigd1 |
T |
C |
11: 76,797,916 (GRCm39) |
V86A |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,542,417 (GRCm39) |
D31777G |
probably damaging |
Het |
| Tymp |
T |
A |
15: 89,260,639 (GRCm39) |
M60L |
probably benign |
Het |
| Ugdh |
T |
C |
5: 65,584,866 (GRCm39) |
T19A |
probably damaging |
Het |
| Vmn1r234 |
G |
T |
17: 21,449,731 (GRCm39) |
C215F |
probably benign |
Het |
| Wnt5b |
T |
C |
6: 119,410,690 (GRCm39) |
D250G |
probably damaging |
Het |
| Xrn1 |
T |
A |
9: 95,927,604 (GRCm39) |
C1463S |
probably benign |
Het |
| Zfp831 |
T |
A |
2: 174,486,945 (GRCm39) |
I540N |
possibly damaging |
Het |
| Zmynd8 |
T |
C |
2: 165,681,937 (GRCm39) |
D189G |
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 |
|
|
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 |
|
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'- TCAAAGCTGGGTGTTCTCCTC -3'
(R):5'- AAAGGCTCCTAATGCCTTTCC -3'
Sequencing Primer
(F):5'- ACCACTCCCAGGTGCATG -3'
(R):5'- AATGCCTTTCCTCCGGGGAC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation