Incidental Mutation 'IGL02158:Plcb2'
ID |
282327 |
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 # |
IGL02158
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
118537998-118558919 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 118541844 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 922
(R922L)
|
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
AA Change: R945L
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000099583 Gene: ENSMUSG00000040061 AA Change: R945L
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
AA Change: R922L
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000124364 Gene: ENSMUSG00000040061 AA Change: R922L
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017B05Rik |
A |
T |
9: 57,163,902 (GRCm39) |
|
probably null |
Het |
Abca2 |
A |
G |
2: 25,337,891 (GRCm39) |
|
probably benign |
Het |
Abcb11 |
A |
T |
2: 69,130,269 (GRCm39) |
S262R |
probably damaging |
Het |
Abhd12 |
T |
A |
2: 150,690,341 (GRCm39) |
Q118L |
probably benign |
Het |
Adam1a |
A |
T |
5: 121,657,034 (GRCm39) |
L753* |
probably null |
Het |
Ahctf1 |
A |
T |
1: 179,607,217 (GRCm39) |
I699N |
possibly damaging |
Het |
Arl11 |
C |
A |
14: 61,548,487 (GRCm39) |
A99E |
probably damaging |
Het |
Atp5po |
G |
A |
16: 91,727,289 (GRCm39) |
R16W |
probably damaging |
Het |
AW551984 |
T |
C |
9: 39,510,621 (GRCm39) |
H238R |
probably null |
Het |
Bpifb9a |
C |
A |
2: 154,108,733 (GRCm39) |
|
probably benign |
Het |
Carhsp1 |
A |
G |
16: 8,481,577 (GRCm39) |
|
probably benign |
Het |
Ccdc33 |
T |
C |
9: 57,937,702 (GRCm39) |
D623G |
probably damaging |
Het |
Chd6 |
C |
A |
2: 160,868,212 (GRCm39) |
R378L |
possibly damaging |
Het |
Chn2 |
T |
C |
6: 54,277,230 (GRCm39) |
|
probably benign |
Het |
Clgn |
T |
G |
8: 84,149,765 (GRCm39) |
I422S |
probably damaging |
Het |
Col15a1 |
T |
A |
4: 47,300,606 (GRCm39) |
|
probably null |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Cyp2c39 |
T |
C |
19: 39,556,574 (GRCm39) |
I470T |
probably benign |
Het |
Dcaf11 |
T |
A |
14: 55,801,980 (GRCm39) |
|
probably null |
Het |
Dnah1 |
G |
T |
14: 31,022,924 (GRCm39) |
T1071K |
probably benign |
Het |
Dnah2 |
T |
A |
11: 69,348,949 (GRCm39) |
M2513L |
probably benign |
Het |
Dqx1 |
A |
G |
6: 83,035,891 (GRCm39) |
|
probably benign |
Het |
Gm1587 |
T |
C |
14: 78,036,282 (GRCm39) |
E8G |
unknown |
Het |
Hydin |
T |
C |
8: 111,336,598 (GRCm39) |
I5125T |
possibly damaging |
Het |
Ighv5-9 |
G |
T |
12: 113,625,563 (GRCm39) |
P60Q |
probably damaging |
Het |
Itga7 |
T |
G |
10: 128,789,651 (GRCm39) |
L993R |
possibly damaging |
Het |
Itpr3 |
A |
G |
17: 27,317,416 (GRCm39) |
N857S |
probably damaging |
Het |
Krt23 |
C |
T |
11: 99,383,490 (GRCm39) |
|
probably benign |
Het |
Lrp1 |
T |
C |
10: 127,390,140 (GRCm39) |
N3093S |
probably benign |
Het |
Mms22l |
T |
C |
4: 24,505,349 (GRCm39) |
F203S |
probably damaging |
Het |
Morn5 |
A |
G |
2: 35,947,088 (GRCm39) |
D122G |
probably damaging |
Het |
Mpp2 |
G |
T |
11: 101,954,088 (GRCm39) |
L220I |
probably benign |
Het |
Mrgpra6 |
A |
T |
7: 46,835,700 (GRCm39) |
Y240* |
probably null |
Het |
Mtmr12 |
T |
C |
15: 12,238,016 (GRCm39) |
I165T |
probably damaging |
Het |
Mylk2 |
C |
A |
2: 152,761,077 (GRCm39) |
N428K |
probably damaging |
Het |
Nfil3 |
A |
G |
13: 53,122,188 (GRCm39) |
Y239H |
probably damaging |
Het |
Notch1 |
A |
G |
2: 26,350,351 (GRCm39) |
L2263P |
probably damaging |
Het |
Or2g7 |
T |
A |
17: 38,378,158 (GRCm39) |
I32N |
probably damaging |
Het |
Or8b101 |
A |
G |
9: 38,020,425 (GRCm39) |
M148V |
probably benign |
Het |
P3h3 |
A |
T |
6: 124,830,055 (GRCm39) |
Y387N |
probably damaging |
Het |
Pdcd6ip |
A |
T |
9: 113,509,121 (GRCm39) |
Y324* |
probably null |
Het |
Pml |
T |
C |
9: 58,154,286 (GRCm39) |
T196A |
probably benign |
Het |
Ppp2r1b |
C |
A |
9: 50,772,909 (GRCm39) |
Q65K |
probably benign |
Het |
Ric8a |
A |
G |
7: 140,442,270 (GRCm39) |
T507A |
probably benign |
Het |
Sec16a |
A |
G |
2: 26,306,644 (GRCm39) |
|
probably null |
Het |
Slc46a3 |
G |
T |
5: 147,823,044 (GRCm39) |
T266N |
probably damaging |
Het |
Smg1 |
A |
G |
7: 117,812,169 (GRCm39) |
S41P |
possibly damaging |
Het |
Snrnp200 |
T |
A |
2: 127,079,403 (GRCm39) |
N1837K |
probably benign |
Het |
Sptan1 |
A |
G |
2: 29,920,336 (GRCm39) |
T2318A |
probably damaging |
Het |
St7l |
C |
T |
3: 104,782,148 (GRCm39) |
T175I |
possibly damaging |
Het |
Tmc7 |
G |
A |
7: 118,137,434 (GRCm39) |
R703C |
probably damaging |
Het |
Urah |
A |
G |
7: 140,416,799 (GRCm39) |
|
probably benign |
Het |
Vmn1r42 |
A |
T |
6: 89,822,296 (GRCm39) |
I91N |
probably damaging |
Het |
Yy1 |
T |
A |
12: 108,780,525 (GRCm39) |
|
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 |
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 |
|
IGL02929:Plcb2
|
APN |
2 |
118,543,715 (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 |
2015-04-16 |