Incidental Mutation 'R0031:Plcb2'
ID |
18649 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plcb2
|
Ensembl Gene |
ENSMUSG00000040061 |
Gene Name |
phospholipase C, beta 2 |
Synonyms |
B230205M18Rik |
MMRRC Submission |
038325-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0031 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
118537998-118558919 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 118545942 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 581
(V581A)
|
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: V604A
PolyPhen 2
Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000099583 Gene: ENSMUSG00000040061 AA Change: V604A
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: ENSMUST00000127248
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129153
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159756
AA Change: V581A
PolyPhen 2
Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000124364 Gene: ENSMUSG00000040061 AA Change: V581A
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 81.0%
- 3x: 73.5%
- 10x: 52.2%
- 20x: 32.1%
|
Validation Efficiency |
93% (95/102) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
G |
A |
2: 69,115,652 (GRCm39) |
R571C |
probably damaging |
Het |
Agr3 |
T |
C |
12: 35,997,590 (GRCm39) |
M100T |
probably benign |
Het |
Ankrd7 |
T |
A |
6: 18,870,007 (GRCm39) |
Y253* |
probably null |
Het |
Atp2c2 |
A |
T |
8: 120,475,801 (GRCm39) |
T565S |
probably benign |
Het |
Ccdc88b |
G |
T |
19: 6,831,151 (GRCm39) |
S597Y |
possibly damaging |
Het |
Celsr2 |
T |
C |
3: 108,320,379 (GRCm39) |
N811S |
probably damaging |
Het |
Cep170 |
A |
T |
1: 176,583,657 (GRCm39) |
D907E |
probably damaging |
Het |
Cip2a |
C |
T |
16: 48,837,736 (GRCm39) |
S812F |
probably benign |
Het |
Clstn1 |
G |
A |
4: 149,719,253 (GRCm39) |
V361M |
probably damaging |
Het |
Cmss1 |
T |
G |
16: 57,131,612 (GRCm39) |
|
probably null |
Het |
Cobl |
T |
C |
11: 12,204,945 (GRCm39) |
T579A |
probably benign |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Csrp2 |
C |
T |
10: 110,774,601 (GRCm39) |
S172L |
probably benign |
Het |
Fip1l1 |
T |
C |
5: 74,717,770 (GRCm39) |
S235P |
probably damaging |
Het |
Gbgt1 |
T |
A |
2: 28,388,462 (GRCm39) |
|
probably benign |
Het |
Gml2 |
T |
C |
15: 74,696,125 (GRCm39) |
I173T |
probably benign |
Het |
Gucy2c |
T |
A |
6: 136,674,997 (GRCm39) |
I1005F |
probably damaging |
Het |
Irak3 |
T |
A |
10: 120,012,225 (GRCm39) |
K88* |
probably null |
Het |
Klc1 |
T |
C |
12: 111,743,467 (GRCm39) |
Y265H |
probably damaging |
Het |
Lamb1 |
G |
A |
12: 31,351,155 (GRCm39) |
V754I |
probably benign |
Het |
Lrguk |
A |
T |
6: 34,020,431 (GRCm39) |
Q58H |
probably damaging |
Het |
Lyst |
A |
G |
13: 13,882,741 (GRCm39) |
D2902G |
probably benign |
Het |
Mtpap |
T |
A |
18: 4,383,244 (GRCm39) |
I207N |
probably damaging |
Het |
Ncdn |
A |
T |
4: 126,643,901 (GRCm39) |
|
probably null |
Het |
Nup160 |
A |
G |
2: 90,547,931 (GRCm39) |
|
probably null |
Het |
Ormdl1 |
A |
G |
1: 53,338,318 (GRCm39) |
|
probably benign |
Het |
Pde5a |
A |
G |
3: 122,596,704 (GRCm39) |
M432V |
probably benign |
Het |
Pikfyve |
T |
A |
1: 65,255,088 (GRCm39) |
|
probably benign |
Het |
Plpp6 |
T |
A |
19: 28,942,243 (GRCm39) |
N281K |
probably benign |
Het |
Pwp1 |
T |
C |
10: 85,721,760 (GRCm39) |
I422T |
probably benign |
Het |
Rims1 |
T |
C |
1: 22,367,103 (GRCm39) |
N1199S |
probably damaging |
Het |
Sema3c |
T |
C |
5: 17,899,726 (GRCm39) |
L406P |
probably damaging |
Het |
Senp6 |
C |
T |
9: 80,033,525 (GRCm39) |
P84L |
probably damaging |
Het |
Setx |
A |
G |
2: 29,066,941 (GRCm39) |
I2361V |
probably benign |
Het |
Slc25a12 |
C |
T |
2: 71,163,958 (GRCm39) |
V106M |
possibly damaging |
Het |
Slc3a1 |
A |
G |
17: 85,340,274 (GRCm39) |
Y232C |
probably damaging |
Het |
Spata31g1 |
A |
T |
4: 42,973,712 (GRCm39) |
K1015M |
probably damaging |
Het |
Taf1c |
A |
T |
8: 120,325,829 (GRCm39) |
C678S |
probably benign |
Het |
Tcp11l2 |
G |
T |
10: 84,427,004 (GRCm39) |
C156F |
probably damaging |
Het |
Tmem62 |
A |
G |
2: 120,829,594 (GRCm39) |
T316A |
probably benign |
Het |
Ulk4 |
A |
G |
9: 121,102,048 (GRCm39) |
I10T |
probably damaging |
Het |
Vps54 |
T |
C |
11: 21,262,899 (GRCm39) |
I824T |
probably damaging |
Het |
Wdfy3 |
A |
T |
5: 102,037,161 (GRCm39) |
V2042E |
probably damaging |
Het |
Wfdc6b |
A |
T |
2: 164,455,779 (GRCm39) |
E36V |
probably damaging |
Het |
Xpc |
C |
T |
6: 91,468,208 (GRCm39) |
A860T |
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 |
|
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 |
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 |
2013-03-25 |