Incidental Mutation 'R6155:Plcb3'
| ID |
489555 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcb3
|
| Ensembl Gene |
ENSMUSG00000024960 |
| Gene Name |
phospholipase C, beta 3 |
| Synonyms |
|
| MMRRC Submission |
044302-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.702)
|
| Stock # |
R6155 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
6931081-6951738 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 6943533 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 122
(A122V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025912
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025912]
|
| AlphaFold |
P51432 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025912
AA Change: A122V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025912
Gene: ENSMUSG00000024960
AA Change: A122V
| 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 |
|
| Meta Mutation Damage Score |
0.6893 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 94.1%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
T |
C |
5: 105,111,510 (GRCm39) |
Y319C |
probably benign |
Het |
| Actn4 |
A |
C |
7: 28,595,566 (GRCm39) |
I763S |
probably damaging |
Het |
| Actr8 |
G |
A |
14: 29,700,546 (GRCm39) |
|
probably null |
Het |
| Adrb1 |
T |
C |
19: 56,711,336 (GRCm39) |
L178P |
probably damaging |
Het |
| Afap1 |
A |
G |
5: 36,092,953 (GRCm39) |
Y19C |
unknown |
Het |
| Ankrd36 |
A |
G |
11: 5,637,442 (GRCm39) |
E1337G |
probably benign |
Het |
| Arl4a |
A |
C |
12: 40,086,519 (GRCm39) |
V76G |
probably damaging |
Het |
| Bmp1 |
A |
T |
14: 70,745,447 (GRCm39) |
I246K |
probably damaging |
Het |
| Camk4 |
A |
T |
18: 33,072,500 (GRCm39) |
T18S |
unknown |
Het |
| Cep152 |
T |
C |
2: 125,423,620 (GRCm39) |
H927R |
probably benign |
Het |
| Clca3a2 |
A |
G |
3: 144,525,118 (GRCm39) |
I38T |
probably damaging |
Het |
| Clec2g |
A |
C |
6: 128,957,236 (GRCm39) |
T54P |
probably damaging |
Het |
| Cox20 |
A |
G |
1: 178,149,362 (GRCm39) |
E31G |
possibly damaging |
Het |
| Crispld1 |
T |
A |
1: 17,823,241 (GRCm39) |
H407Q |
probably benign |
Het |
| Csmd1 |
T |
C |
8: 15,953,231 (GRCm39) |
I3417V |
probably benign |
Het |
| Dhtkd1 |
A |
C |
2: 5,915,170 (GRCm39) |
H700Q |
probably null |
Het |
| Dnah10 |
G |
A |
5: 124,847,663 (GRCm39) |
V1516M |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,862,239 (GRCm39) |
T2165A |
probably damaging |
Het |
| Dock2 |
C |
G |
11: 34,244,123 (GRCm39) |
M1072I |
probably benign |
Het |
| F11 |
T |
A |
8: 45,705,119 (GRCm39) |
T141S |
probably damaging |
Het |
| Gabra6 |
T |
A |
11: 42,207,350 (GRCm39) |
I245F |
probably damaging |
Het |
| H2-T5 |
G |
A |
17: 36,478,399 (GRCm39) |
A211V |
possibly damaging |
Het |
| Herc1 |
T |
A |
9: 66,340,705 (GRCm39) |
C1685S |
possibly damaging |
Het |
| Iftap |
A |
T |
2: 101,406,355 (GRCm39) |
|
probably null |
Het |
| Il20 |
G |
T |
1: 130,838,477 (GRCm39) |
D73E |
probably damaging |
Het |
| Ireb2 |
C |
A |
9: 54,793,811 (GRCm39) |
P247Q |
probably damaging |
Het |
| Kcng3 |
T |
C |
17: 83,895,807 (GRCm39) |
I220V |
probably benign |
Het |
| Lce1j |
T |
G |
3: 92,696,379 (GRCm39) |
Q133P |
unknown |
Het |
| Lgals9 |
C |
T |
11: 78,854,331 (GRCm39) |
A287T |
probably benign |
Het |
| Lrrc52 |
A |
G |
1: 167,294,296 (GRCm39) |
|
probably benign |
Het |
| Map3k5 |
A |
T |
10: 19,994,187 (GRCm39) |
H1027L |
probably benign |
Het |
| Morc3 |
A |
G |
16: 93,659,313 (GRCm39) |
D407G |
possibly damaging |
Het |
| Myom1 |
T |
C |
17: 71,415,690 (GRCm39) |
|
probably null |
Het |
| Ncapg2 |
T |
C |
12: 116,401,631 (GRCm39) |
F673S |
possibly damaging |
Het |
| Ncoa6 |
T |
C |
2: 155,249,368 (GRCm39) |
D1312G |
probably damaging |
Het |
| Nkx1-1 |
A |
T |
5: 33,588,395 (GRCm39) |
F298I |
probably damaging |
Het |
| Npas2 |
G |
A |
1: 39,326,557 (GRCm39) |
R14Q |
probably damaging |
Het |
| Npas4 |
C |
T |
19: 5,036,898 (GRCm39) |
C422Y |
probably damaging |
Het |
| Or11h4 |
T |
C |
14: 50,974,076 (GRCm39) |
D181G |
probably benign |
Het |
| Or2y11 |
T |
A |
11: 49,443,411 (GRCm39) |
I279N |
possibly damaging |
Het |
| Or4c123 |
A |
G |
2: 89,126,765 (GRCm39) |
L283S |
probably damaging |
Het |
| Or5p4 |
T |
C |
7: 107,680,493 (GRCm39) |
V164A |
probably benign |
Het |
| Pcdhga4 |
T |
C |
18: 37,819,546 (GRCm39) |
I365T |
probably damaging |
Het |
| Pear1 |
T |
A |
3: 87,666,875 (GRCm39) |
T37S |
probably damaging |
Het |
| Pkn2 |
A |
T |
3: 142,559,454 (GRCm39) |
F24I |
probably benign |
Het |
| Pnliprp1 |
T |
C |
19: 58,718,565 (GRCm39) |
|
probably null |
Het |
| Pramel28 |
T |
A |
4: 143,691,712 (GRCm39) |
H337L |
probably benign |
Het |
| Psmb3 |
T |
A |
11: 97,603,278 (GRCm39) |
F164I |
probably damaging |
Het |
| Ptch2 |
T |
A |
4: 116,954,105 (GRCm39) |
F45Y |
probably damaging |
Het |
| Ptpn23 |
C |
A |
9: 110,216,849 (GRCm39) |
|
probably benign |
Het |
| Pusl1 |
A |
G |
4: 155,975,005 (GRCm39) |
S199P |
probably damaging |
Het |
| Rasgrp2 |
C |
A |
19: 6,452,531 (GRCm39) |
L35I |
probably damaging |
Het |
| Rictor |
T |
C |
15: 6,823,458 (GRCm39) |
L1545P |
probably benign |
Het |
| Rtn4r |
A |
T |
16: 17,969,258 (GRCm39) |
M229L |
probably benign |
Het |
| Ruvbl1 |
A |
T |
6: 88,456,107 (GRCm39) |
|
probably null |
Het |
| Slc35b3 |
A |
T |
13: 39,128,572 (GRCm39) |
S30T |
probably damaging |
Het |
| Sorcs3 |
T |
C |
19: 48,387,136 (GRCm39) |
V207A |
possibly damaging |
Het |
| Sox13 |
A |
G |
1: 133,321,005 (GRCm39) |
S2P |
probably damaging |
Het |
| Sptbn1 |
A |
C |
11: 30,087,403 (GRCm39) |
L999R |
probably damaging |
Het |
| Taf4 |
A |
G |
2: 179,555,317 (GRCm39) |
V1015A |
probably damaging |
Het |
| Top3b |
T |
C |
16: 16,709,373 (GRCm39) |
L687P |
probably damaging |
Het |
| Tpp2 |
T |
A |
1: 43,995,649 (GRCm39) |
V268E |
probably damaging |
Het |
| Ttc6 |
T |
C |
12: 57,784,402 (GRCm39) |
Y1824H |
possibly damaging |
Het |
| Txk |
A |
G |
5: 72,858,069 (GRCm39) |
Y360H |
probably damaging |
Het |
| Vmn2r57 |
T |
C |
7: 41,078,114 (GRCm39) |
I115V |
probably benign |
Het |
| Vmn2r98 |
T |
C |
17: 19,286,143 (GRCm39) |
S214P |
possibly damaging |
Het |
| Zbtb48 |
T |
C |
4: 152,106,495 (GRCm39) |
|
probably null |
Het |
| Zzz3 |
A |
G |
3: 152,133,319 (GRCm39) |
I126V |
possibly 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 |
|
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 |
|
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'- TACATCCAAAACAGGGTCTGG -3'
(R):5'- ACTGACAGGGCCAAGATTGTC -3'
Sequencing Primer
(F):5'- CAGGGTCTGGTGCATAAAACATC -3'
(R):5'- CAGGGCCAAGATTGTCAAAGGAC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation