Incidental Mutation 'IGL02929:Plcb2'
| ID |
364041 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Plcb2
|
| Ensembl Gene |
ENSMUSG00000040061 |
| Gene Name |
phospholipase C, beta 2 |
| Synonyms |
B230205M18Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02929
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
118537998-118558919 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 118543715 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124364
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102524]
[ENSMUST00000159756]
|
| AlphaFold |
A3KGF7 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000006415
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102524
|
| SMART Domains |
Protein: ENSMUSP00000099583
Gene: ENSMUSG00000040061
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
13 |
N/A |
INTRINSIC |
|
Pfam:EF-hand_like
|
220 |
311 |
2.5e-24 |
PFAM |
|
PLCXc
|
312 |
463 |
2.87e-79 |
SMART |
|
low complexity region
|
504 |
518 |
N/A |
INTRINSIC |
|
PLCYc
|
547 |
663 |
2.39e-67 |
SMART |
|
C2
|
684 |
783 |
9.17e-15 |
SMART |
|
low complexity region
|
902 |
925 |
N/A |
INTRINSIC |
|
low complexity region
|
929 |
940 |
N/A |
INTRINSIC |
|
Pfam:PLC-beta_C
|
974 |
1149 |
4.7e-72 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126907
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127248
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129153
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159756
|
| SMART Domains |
Protein: ENSMUSP00000124364
Gene: ENSMUSG00000040061
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
13 |
N/A |
INTRINSIC |
|
Pfam:EF-hand_like
|
197 |
288 |
7.1e-26 |
PFAM |
|
PLCXc
|
289 |
440 |
2.87e-79 |
SMART |
|
low complexity region
|
481 |
495 |
N/A |
INTRINSIC |
|
PLCYc
|
524 |
640 |
2.39e-67 |
SMART |
|
C2
|
661 |
760 |
9.17e-15 |
SMART |
|
low complexity region
|
879 |
902 |
N/A |
INTRINSIC |
|
low complexity region
|
906 |
917 |
N/A |
INTRINSIC |
|
Pfam:PLC-beta_C
|
946 |
1129 |
5.1e-68 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a phosphodiesterase that catalyzes the hydrolysis of phosphatidylinositol 4,5-bisphosphate to the second messengers inositol 1,4,5-trisphosphate (IP3) and diacylglycerol. The encoded protein is activated by G proteins and has been shown to be involved in the type 2 taste receptor signal transduction pathway. In addition, nuclear factor kappa B can regulate the transcription of this gene, whose protein product is also an important regulator of platelet responses. [provided by RefSeq, Jan 2017]
PHENOTYPE: Homozygous mutant mice showed an increased sensitivity to both bacterial and viral infections and exhibited abnormal taste perception in which sweet, umami, and bitter stimuli could not be sensed. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A330070K13Rik |
A |
G |
5: 130,413,252 (GRCm39) |
|
probably null |
Het |
| Abcb5 |
T |
C |
12: 118,908,674 (GRCm39) |
Y90C |
probably damaging |
Het |
| Accs |
T |
C |
2: 93,674,566 (GRCm39) |
D112G |
probably damaging |
Het |
| Adam32 |
C |
A |
8: 25,362,659 (GRCm39) |
V13L |
possibly damaging |
Het |
| Adgrb3 |
A |
G |
1: 25,592,905 (GRCm39) |
V294A |
probably benign |
Het |
| Agt |
G |
T |
8: 125,283,829 (GRCm39) |
A430E |
probably benign |
Het |
| Agxt2 |
T |
C |
15: 10,388,379 (GRCm39) |
|
probably benign |
Het |
| Atp2a1 |
A |
T |
7: 126,056,116 (GRCm39) |
I235N |
probably damaging |
Het |
| Atp8b1 |
T |
C |
18: 64,694,733 (GRCm39) |
I516M |
possibly damaging |
Het |
| Atrx |
T |
C |
X: 104,923,512 (GRCm39) |
|
probably null |
Het |
| Brcc3 |
T |
C |
X: 74,479,105 (GRCm39) |
V117A |
possibly damaging |
Het |
| Casp8ap2 |
T |
C |
4: 32,624,105 (GRCm39) |
|
probably benign |
Het |
| Ceacam3 |
T |
A |
7: 16,892,115 (GRCm39) |
V286D |
probably damaging |
Het |
| Cpb1 |
T |
C |
3: 20,329,630 (GRCm39) |
D32G |
probably benign |
Het |
| Cpsf1 |
C |
A |
15: 76,486,327 (GRCm39) |
|
probably null |
Het |
| Dnai4 |
C |
T |
4: 102,917,188 (GRCm39) |
W552* |
probably null |
Het |
| Dock2 |
A |
T |
11: 34,218,048 (GRCm39) |
V1174E |
probably damaging |
Het |
| Dqx1 |
A |
G |
6: 83,037,465 (GRCm39) |
|
probably benign |
Het |
| Ercc1 |
T |
C |
7: 19,089,288 (GRCm39) |
|
probably null |
Het |
| Fn1 |
A |
G |
1: 71,634,821 (GRCm39) |
|
probably null |
Het |
| Garre1 |
A |
T |
7: 33,944,507 (GRCm39) |
M75K |
possibly damaging |
Het |
| Ice1 |
A |
G |
13: 70,744,322 (GRCm39) |
L2087P |
probably damaging |
Het |
| Ift122 |
A |
G |
6: 115,879,838 (GRCm39) |
D612G |
probably damaging |
Het |
| Igkv6-25 |
A |
G |
6: 70,192,929 (GRCm39) |
Y112C |
probably damaging |
Het |
| Kit |
C |
A |
5: 75,801,429 (GRCm39) |
P572Q |
probably damaging |
Het |
| Kras |
A |
G |
6: 145,177,815 (GRCm39) |
|
probably benign |
Het |
| Ltv1 |
T |
C |
10: 13,067,970 (GRCm39) |
K6R |
possibly damaging |
Het |
| Man1a |
C |
T |
10: 53,801,531 (GRCm39) |
V443I |
probably benign |
Het |
| Mat2b |
A |
C |
11: 40,575,540 (GRCm39) |
D154E |
probably benign |
Het |
| Mtrf1 |
A |
G |
14: 79,640,273 (GRCm39) |
K143E |
probably benign |
Het |
| Myh13 |
A |
C |
11: 67,257,991 (GRCm39) |
I95L |
probably damaging |
Het |
| Myo7b |
A |
T |
18: 32,127,978 (GRCm39) |
D571E |
probably benign |
Het |
| Nek10 |
T |
A |
14: 14,821,119 (GRCm38) |
D28E |
possibly damaging |
Het |
| Npm2 |
T |
A |
14: 70,889,678 (GRCm39) |
|
probably null |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Ppp1r3a |
A |
G |
6: 14,719,810 (GRCm39) |
M368T |
probably benign |
Het |
| Rnf123 |
G |
T |
9: 107,946,275 (GRCm39) |
T300K |
probably benign |
Het |
| Sbspon |
A |
G |
1: 15,954,069 (GRCm39) |
|
probably benign |
Het |
| Slc52a2 |
G |
A |
15: 76,424,776 (GRCm39) |
C338Y |
probably benign |
Het |
| Tdrd6 |
T |
A |
17: 43,940,604 (GRCm39) |
Q148L |
possibly damaging |
Het |
| Tle5 |
T |
A |
10: 81,400,672 (GRCm39) |
|
probably null |
Het |
| Trpc3 |
T |
A |
3: 36,692,623 (GRCm39) |
K790* |
probably null |
Het |
| Ushbp1 |
C |
T |
8: 71,847,120 (GRCm39) |
A171T |
probably damaging |
Het |
| Usp32 |
T |
C |
11: 84,879,198 (GRCm39) |
T1504A |
probably benign |
Het |
|
| Other mutations in Plcb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00580:Plcb2
|
APN |
2 |
118,549,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00715:Plcb2
|
APN |
2 |
118,544,215 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00851:Plcb2
|
APN |
2 |
118,558,732 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL01765:Plcb2
|
APN |
2 |
118,540,749 (GRCm39) |
splice site |
probably benign |
|
|
IGL01837:Plcb2
|
APN |
2 |
118,542,407 (GRCm39) |
splice site |
probably null |
|
|
IGL01868:Plcb2
|
APN |
2 |
118,541,868 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01868:Plcb2
|
APN |
2 |
118,540,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02158:Plcb2
|
APN |
2 |
118,541,844 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02447:Plcb2
|
APN |
2 |
118,543,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02490:Plcb2
|
APN |
2 |
118,550,241 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02691:Plcb2
|
APN |
2 |
118,541,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02723:Plcb2
|
APN |
2 |
118,547,500 (GRCm39) |
splice site |
probably benign |
|
|
IGL02949:Plcb2
|
APN |
2 |
118,549,590 (GRCm39) |
splice site |
probably null |
|
|
PIT4480001:Plcb2
|
UTSW |
2 |
118,553,977 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0031:Plcb2
|
UTSW |
2 |
118,545,942 (GRCm39) |
missense |
probably benign |
0.36 |
|
R0157:Plcb2
|
UTSW |
2 |
118,549,022 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0366:Plcb2
|
UTSW |
2 |
118,554,928 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0376:Plcb2
|
UTSW |
2 |
118,547,721 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0570:Plcb2
|
UTSW |
2 |
118,547,806 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0790:Plcb2
|
UTSW |
2 |
118,542,964 (GRCm39) |
splice site |
probably benign |
|
|
R0893:Plcb2
|
UTSW |
2 |
118,555,586 (GRCm39) |
splice site |
probably benign |
|
|
R1647:Plcb2
|
UTSW |
2 |
118,554,261 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1648:Plcb2
|
UTSW |
2 |
118,554,261 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1686:Plcb2
|
UTSW |
2 |
118,546,168 (GRCm39) |
splice site |
probably benign |
|
|
R2210:Plcb2
|
UTSW |
2 |
118,547,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2211:Plcb2
|
UTSW |
2 |
118,554,015 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2251:Plcb2
|
UTSW |
2 |
118,554,246 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2252:Plcb2
|
UTSW |
2 |
118,554,246 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2253:Plcb2
|
UTSW |
2 |
118,554,246 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2426:Plcb2
|
UTSW |
2 |
118,546,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3970:Plcb2
|
UTSW |
2 |
118,546,171 (GRCm39) |
splice site |
probably benign |
|
|
R4007:Plcb2
|
UTSW |
2 |
118,541,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4162:Plcb2
|
UTSW |
2 |
118,540,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4236:Plcb2
|
UTSW |
2 |
118,540,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4422:Plcb2
|
UTSW |
2 |
118,542,484 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4772:Plcb2
|
UTSW |
2 |
118,543,615 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4795:Plcb2
|
UTSW |
2 |
118,541,605 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4935:Plcb2
|
UTSW |
2 |
118,549,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5019:Plcb2
|
UTSW |
2 |
118,542,617 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5055:Plcb2
|
UTSW |
2 |
118,548,703 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5452:Plcb2
|
UTSW |
2 |
118,548,727 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5622:Plcb2
|
UTSW |
2 |
118,545,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5752:Plcb2
|
UTSW |
2 |
118,541,532 (GRCm39) |
intron |
probably benign |
|
|
R6284:Plcb2
|
UTSW |
2 |
118,547,782 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6380:Plcb2
|
UTSW |
2 |
118,545,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6574:Plcb2
|
UTSW |
2 |
118,549,654 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6728:Plcb2
|
UTSW |
2 |
118,554,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6792:Plcb2
|
UTSW |
2 |
118,549,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7529:Plcb2
|
UTSW |
2 |
118,540,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7560:Plcb2
|
UTSW |
2 |
118,546,124 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7610:Plcb2
|
UTSW |
2 |
118,550,240 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7760:Plcb2
|
UTSW |
2 |
118,541,869 (GRCm39) |
missense |
probably benign |
|
|
R8152:Plcb2
|
UTSW |
2 |
118,541,302 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8170:Plcb2
|
UTSW |
2 |
118,541,934 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8413:Plcb2
|
UTSW |
2 |
118,549,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8913:Plcb2
|
UTSW |
2 |
118,544,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9072:Plcb2
|
UTSW |
2 |
118,547,878 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9758:Plcb2
|
UTSW |
2 |
118,545,921 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9773:Plcb2
|
UTSW |
2 |
118,541,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0024:Plcb2
|
UTSW |
2 |
118,542,856 (GRCm39) |
missense |
probably benign |
0.13 |
|
Z1176:Plcb2
|
UTSW |
2 |
118,553,609 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Plcb2
|
UTSW |
2 |
118,539,681 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation