Incidental Mutation 'IGL02550:Plcb3'
| ID |
298014 |
| 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: 0.623)
|
| Stock # |
IGL02550
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
6953714-6969759 bp(-) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 6960176 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 625
(K625*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025912
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025912]
|
| AlphaFold |
P51432 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000025912
AA Change: K625*
|
| SMART Domains |
Protein: ENSMUSP00000025912
Gene: ENSMUSG00000024960
AA Change: K625*
| 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 |
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010109I03Rik |
T |
G |
15: 74,880,755 |
H24P |
probably damaging |
Het |
| Acadl |
A |
G |
1: 66,845,166 |
|
probably null |
Het |
| Acer3 |
G |
A |
7: 98,223,978 |
T171I |
probably benign |
Het |
| Acsm2 |
C |
T |
7: 119,573,284 |
P117S |
probably damaging |
Het |
| Anxa2 |
A |
G |
9: 69,467,306 |
S22G |
probably benign |
Het |
| Arrb2 |
T |
C |
11: 70,436,870 |
I120T |
probably damaging |
Het |
| Atp11a |
G |
T |
8: 12,816,997 |
K141N |
possibly damaging |
Het |
| Casd1 |
T |
C |
6: 4,642,009 |
V762A |
probably benign |
Het |
| Ccdc61 |
A |
T |
7: 18,893,302 |
S48T |
probably benign |
Het |
| Cntn2 |
T |
C |
1: 132,529,063 |
M82V |
probably null |
Het |
| Cobll1 |
A |
G |
2: 65,107,863 |
S359P |
probably damaging |
Het |
| Ctnnbl1 |
C |
A |
2: 157,884,135 |
D465E |
probably benign |
Het |
| Def6 |
A |
T |
17: 28,228,261 |
E622V |
probably benign |
Het |
| Dmgdh |
T |
C |
13: 93,717,575 |
Y678H |
probably damaging |
Het |
| Dock9 |
A |
T |
14: 121,698,312 |
M1K |
probably null |
Het |
| Esyt1 |
T |
C |
10: 128,522,093 |
K216E |
probably damaging |
Het |
| Fhod3 |
A |
G |
18: 25,022,960 |
D545G |
probably benign |
Het |
| Galnt12 |
A |
T |
4: 47,104,126 |
D128V |
possibly damaging |
Het |
| Gm1110 |
C |
T |
9: 26,881,834 |
V549I |
probably benign |
Het |
| Gm1966 |
A |
T |
7: 106,601,639 |
|
noncoding transcript |
Het |
| Gm7361 |
A |
G |
5: 26,261,122 |
I161V |
possibly damaging |
Het |
| Gsn |
T |
C |
2: 35,282,607 |
|
probably benign |
Het |
| Il16 |
T |
A |
7: 83,674,496 |
Q282L |
possibly damaging |
Het |
| Il3ra |
A |
G |
14: 14,348,055 |
D67G |
probably benign |
Het |
| Insrr |
T |
C |
3: 87,804,498 |
L515P |
probably damaging |
Het |
| Jhy |
A |
G |
9: 40,917,170 |
F480S |
probably benign |
Het |
| Klc4 |
C |
A |
17: 46,636,910 |
|
probably null |
Het |
| Klhl12 |
G |
T |
1: 134,467,705 |
C135F |
possibly damaging |
Het |
| Mboat7 |
G |
T |
7: 3,683,906 |
|
probably null |
Het |
| Myo1f |
G |
A |
17: 33,588,142 |
D522N |
probably damaging |
Het |
| Myo1f |
A |
G |
17: 33,580,150 |
|
probably benign |
Het |
| Nbea |
C |
A |
3: 56,019,414 |
M789I |
probably damaging |
Het |
| Ncapd2 |
T |
C |
6: 125,177,447 |
D602G |
probably benign |
Het |
| Ncaph2 |
A |
T |
15: 89,369,861 |
K344* |
probably null |
Het |
| Nek2 |
A |
G |
1: 191,822,259 |
Y70C |
probably damaging |
Het |
| Olfr1277 |
T |
A |
2: 111,270,004 |
D121V |
probably damaging |
Het |
| Olfr1281 |
T |
C |
2: 111,328,500 |
L27P |
probably damaging |
Het |
| Olfr31 |
T |
C |
14: 14,328,423 |
L104P |
possibly damaging |
Het |
| Olfr857 |
C |
A |
9: 19,713,047 |
F73L |
possibly damaging |
Het |
| Olfr955 |
T |
A |
9: 39,470,546 |
Y60F |
probably benign |
Het |
| Olfr992 |
G |
A |
2: 85,399,822 |
A237V |
probably damaging |
Het |
| Plrg1 |
T |
C |
3: 83,061,123 |
|
probably null |
Het |
| Ptpn12 |
A |
G |
5: 20,998,139 |
V547A |
probably benign |
Het |
| Ralgapb |
A |
G |
2: 158,448,411 |
D748G |
probably damaging |
Het |
| Rcbtb2 |
A |
G |
14: 73,162,019 |
E41G |
probably damaging |
Het |
| Rela |
G |
T |
19: 5,641,506 |
R236L |
possibly damaging |
Het |
| Rps6kc1 |
A |
G |
1: 190,871,862 |
S188P |
probably damaging |
Het |
| Sipa1l1 |
A |
T |
12: 82,440,949 |
K1666* |
probably null |
Het |
| Slco1a1 |
C |
T |
6: 141,943,465 |
M40I |
probably benign |
Het |
| Smarca4 |
C |
A |
9: 21,686,122 |
P1391Q |
probably benign |
Het |
| Stra6 |
A |
G |
9: 58,150,083 |
N392S |
possibly damaging |
Het |
| Syt4 |
A |
G |
18: 31,444,193 |
I36T |
probably damaging |
Het |
| Tgfbr2 |
A |
T |
9: 116,110,129 |
M235K |
probably benign |
Het |
| Tmem87a |
T |
A |
2: 120,374,485 |
|
probably null |
Het |
| Tmf1 |
T |
C |
6: 97,158,561 |
D918G |
probably benign |
Het |
| Tnfaip2 |
A |
G |
12: 111,446,101 |
Y312C |
probably damaging |
Het |
| Usp47 |
C |
T |
7: 112,104,354 |
R1178C |
probably damaging |
Het |
| Vmn2r95 |
T |
A |
17: 18,451,732 |
I577N |
probably damaging |
Het |
| Vps13b |
T |
C |
15: 35,572,096 |
V953A |
probably benign |
Het |
| Wasl |
A |
G |
6: 24,633,884 |
F127S |
probably damaging |
Het |
| Wdr1 |
C |
T |
5: 38,540,863 |
V192I |
probably damaging |
Het |
| Wnt9a |
C |
T |
11: 59,330,918 |
T214I |
probably damaging |
Het |
| Xpo5 |
A |
G |
17: 46,229,329 |
D693G |
probably benign |
Het |
| Zan |
A |
G |
5: 137,387,039 |
L5044P |
unknown |
Het |
| Zhx3 |
T |
C |
2: 160,781,296 |
N317S |
probably damaging |
Het |
|
| Other mutations in Plcb3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01092:Plcb3
|
APN |
19 |
6,955,322 (GRCm38) |
missense |
probably benign |
0.27 |
|
IGL01370:Plcb3
|
APN |
19 |
6,962,824 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01385:Plcb3
|
APN |
19 |
6,957,908 (GRCm38) |
missense |
probably benign |
|
|
IGL01511:Plcb3
|
APN |
19 |
6,955,843 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02182:Plcb3
|
APN |
19 |
6,969,620 (GRCm38) |
missense |
probably benign |
0.22 |
|
IGL02240:Plcb3
|
APN |
19 |
6,958,080 (GRCm38) |
splice site |
probably benign |
|
|
IGL02350:Plcb3
|
APN |
19 |
6,958,178 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02357:Plcb3
|
APN |
19 |
6,958,178 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02866:Plcb3
|
APN |
19 |
6,957,676 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03180:Plcb3
|
APN |
19 |
6,956,153 (GRCm38) |
missense |
probably benign |
0.44 |
|
IGL03327:Plcb3
|
APN |
19 |
6,955,052 (GRCm38) |
missense |
probably benign |
|
|
IGL03346:Plcb3
|
APN |
19 |
6,955,052 (GRCm38) |
missense |
probably benign |
|
|
Multifarious
|
UTSW |
19 |
6,954,703 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0042:Plcb3
|
UTSW |
19 |
6,966,420 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0125:Plcb3
|
UTSW |
19 |
6,958,908 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0240:Plcb3
|
UTSW |
19 |
6,962,995 (GRCm38) |
missense |
probably benign |
0.16 |
|
R0240:Plcb3
|
UTSW |
19 |
6,962,995 (GRCm38) |
missense |
probably benign |
0.16 |
|
R0724:Plcb3
|
UTSW |
19 |
6,963,392 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0781:Plcb3
|
UTSW |
19 |
6,961,913 (GRCm38) |
nonsense |
probably null |
|
|
R0945:Plcb3
|
UTSW |
19 |
6,954,878 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1110:Plcb3
|
UTSW |
19 |
6,961,913 (GRCm38) |
nonsense |
probably null |
|
|
R1414:Plcb3
|
UTSW |
19 |
6,963,017 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1454:Plcb3
|
UTSW |
19 |
6,955,046 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R1533:Plcb3
|
UTSW |
19 |
6,957,673 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R1652:Plcb3
|
UTSW |
19 |
6,955,296 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1795:Plcb3
|
UTSW |
19 |
6,956,013 (GRCm38) |
unclassified |
probably benign |
|
|
R1870:Plcb3
|
UTSW |
19 |
6,962,985 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1934:Plcb3
|
UTSW |
19 |
6,964,609 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3980:Plcb3
|
UTSW |
19 |
6,966,435 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4397:Plcb3
|
UTSW |
19 |
6,965,825 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4533:Plcb3
|
UTSW |
19 |
6,956,272 (GRCm38) |
missense |
probably benign |
0.08 |
|
R4576:Plcb3
|
UTSW |
19 |
6,959,047 (GRCm38) |
splice site |
probably benign |
|
|
R4815:Plcb3
|
UTSW |
19 |
6,962,984 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R4903:Plcb3
|
UTSW |
19 |
6,955,843 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5093:Plcb3
|
UTSW |
19 |
6,966,210 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5555:Plcb3
|
UTSW |
19 |
6,966,219 (GRCm38) |
missense |
probably benign |
0.19 |
|
R5593:Plcb3
|
UTSW |
19 |
6,954,749 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5626:Plcb3
|
UTSW |
19 |
6,955,275 (GRCm38) |
missense |
probably benign |
0.24 |
|
R5661:Plcb3
|
UTSW |
19 |
6,963,220 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5713:Plcb3
|
UTSW |
19 |
6,957,692 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5741:Plcb3
|
UTSW |
19 |
6,954,422 (GRCm38) |
nonsense |
probably null |
|
|
R6025:Plcb3
|
UTSW |
19 |
6,956,179 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6063:Plcb3
|
UTSW |
19 |
6,962,834 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R6155:Plcb3
|
UTSW |
19 |
6,966,165 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6157:Plcb3
|
UTSW |
19 |
6,966,165 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6178:Plcb3
|
UTSW |
19 |
6,954,703 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7085:Plcb3
|
UTSW |
19 |
6,960,133 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R7117:Plcb3
|
UTSW |
19 |
6,964,378 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7134:Plcb3
|
UTSW |
19 |
6,965,330 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7153:Plcb3
|
UTSW |
19 |
6,958,084 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7316:Plcb3
|
UTSW |
19 |
6,966,385 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7366:Plcb3
|
UTSW |
19 |
6,962,021 (GRCm38) |
missense |
probably benign |
|
|
R7399:Plcb3
|
UTSW |
19 |
6,962,867 (GRCm38) |
missense |
probably benign |
|
|
R7736:Plcb3
|
UTSW |
19 |
6,969,623 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8057:Plcb3
|
UTSW |
19 |
6,958,899 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8057:Plcb3
|
UTSW |
19 |
6,955,095 (GRCm38) |
missense |
probably benign |
|
|
R8376:Plcb3
|
UTSW |
19 |
6,966,703 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9103:Plcb3
|
UTSW |
19 |
6,958,920 (GRCm38) |
missense |
probably benign |
0.06 |
|
R9292:Plcb3
|
UTSW |
19 |
6,964,674 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9366:Plcb3
|
UTSW |
19 |
6,960,290 (GRCm38) |
critical splice donor site |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation