Incidental Mutation 'R0376:Plcb2'
ID |
30731 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plcb2
|
Ensembl Gene |
ENSMUSG00000040061 |
Gene Name |
phospholipase C, beta 2 |
Synonyms |
B230205M18Rik |
MMRRC Submission |
038582-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0376 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
118537998-118558919 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 118547721 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 502
(E502G)
|
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 damaging
Transcript: ENSMUST00000102524
AA Change: E525G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000099583 Gene: ENSMUSG00000040061 AA Change: E525G
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 |
probably damaging
Transcript: ENSMUST00000159756
AA Change: E502G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000124364 Gene: ENSMUSG00000040061 AA Change: E502G
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 |
0.0935 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 90.0%
|
Validation Efficiency |
100% (58/58) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam6a |
T |
C |
12: 113,508,310 (GRCm39) |
Y228H |
probably damaging |
Het |
Als2 |
A |
G |
1: 59,254,724 (GRCm39) |
F211S |
probably benign |
Het |
Ankrd12 |
T |
A |
17: 66,360,004 (GRCm39) |
Q11L |
probably damaging |
Het |
Anxa5 |
T |
C |
3: 36,514,637 (GRCm39) |
R115G |
probably damaging |
Het |
Arhgap10 |
T |
C |
8: 78,177,453 (GRCm39) |
|
probably benign |
Het |
Atp2a3 |
T |
A |
11: 72,873,528 (GRCm39) |
D782E |
probably damaging |
Het |
Bcr |
G |
T |
10: 74,981,159 (GRCm39) |
L659F |
probably damaging |
Het |
Cacna1b |
A |
G |
2: 24,549,015 (GRCm39) |
|
probably benign |
Het |
Camp |
C |
T |
9: 109,677,467 (GRCm39) |
C122Y |
probably damaging |
Het |
Cimip1 |
G |
A |
2: 173,370,120 (GRCm39) |
E132K |
probably benign |
Het |
Col12a1 |
A |
T |
9: 79,600,776 (GRCm39) |
S769R |
probably benign |
Het |
Cyp2j6 |
T |
A |
4: 96,414,260 (GRCm39) |
K335I |
probably damaging |
Het |
Cyp3a11 |
A |
C |
5: 145,799,262 (GRCm39) |
Y308* |
probably null |
Het |
Flnb |
G |
A |
14: 7,946,014 (GRCm38) |
|
probably null |
Het |
Frmd4a |
G |
T |
2: 4,577,198 (GRCm39) |
M351I |
probably damaging |
Het |
Gabrg2 |
C |
T |
11: 41,807,142 (GRCm39) |
S365N |
possibly damaging |
Het |
Ggn |
T |
C |
7: 28,872,447 (GRCm39) |
V609A |
possibly damaging |
Het |
H60c |
T |
C |
10: 3,210,435 (GRCm39) |
|
probably benign |
Het |
Hexd |
T |
A |
11: 121,108,991 (GRCm39) |
|
probably benign |
Het |
Igsf9b |
A |
G |
9: 27,245,878 (GRCm39) |
T1282A |
probably benign |
Het |
Ikzf4 |
T |
C |
10: 128,468,625 (GRCm39) |
N618S |
probably benign |
Het |
Ints14 |
A |
G |
9: 64,891,272 (GRCm39) |
K418E |
probably damaging |
Het |
Iqgap1 |
T |
C |
7: 80,373,627 (GRCm39) |
E1454G |
probably benign |
Het |
Kif13b |
T |
C |
14: 64,994,853 (GRCm39) |
|
probably benign |
Het |
Krt71 |
A |
C |
15: 101,646,505 (GRCm39) |
F328C |
probably damaging |
Het |
Lama2 |
T |
C |
10: 26,891,542 (GRCm39) |
T2524A |
possibly damaging |
Het |
Mfn2 |
C |
T |
4: 147,969,983 (GRCm39) |
V363I |
probably benign |
Het |
Mkln1 |
A |
T |
6: 31,454,953 (GRCm39) |
D496V |
probably benign |
Het |
Or2q1 |
A |
T |
6: 42,795,226 (GRCm39) |
M274L |
probably benign |
Het |
Patj |
T |
A |
4: 98,457,224 (GRCm39) |
I1242N |
probably damaging |
Het |
Pcnx1 |
C |
T |
12: 82,021,353 (GRCm39) |
|
probably benign |
Het |
Plppr4 |
G |
T |
3: 117,116,740 (GRCm39) |
H314Q |
probably benign |
Het |
Prkcsh |
A |
G |
9: 21,921,547 (GRCm39) |
|
probably benign |
Het |
Prr14 |
C |
T |
7: 127,075,815 (GRCm39) |
H181Y |
probably benign |
Het |
Pus3 |
A |
T |
9: 35,477,718 (GRCm39) |
M317L |
possibly damaging |
Het |
Pwwp2a |
T |
A |
11: 43,595,499 (GRCm39) |
D221E |
probably benign |
Het |
Rbm15 |
T |
C |
3: 107,238,254 (GRCm39) |
S715G |
probably benign |
Het |
Rbm28 |
A |
G |
6: 29,158,927 (GRCm39) |
|
probably benign |
Het |
Rhobtb2 |
A |
T |
14: 70,034,184 (GRCm39) |
V347E |
probably benign |
Het |
Rimbp2 |
C |
T |
5: 128,880,925 (GRCm39) |
R161Q |
probably damaging |
Het |
Scgb1b27 |
C |
T |
7: 33,721,322 (GRCm39) |
T70I |
possibly damaging |
Het |
Slc40a1 |
T |
C |
1: 45,951,651 (GRCm39) |
|
probably benign |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Spaca9 |
A |
G |
2: 28,583,672 (GRCm39) |
V104A |
probably benign |
Het |
Spag7 |
T |
C |
11: 70,560,016 (GRCm39) |
|
probably benign |
Het |
Sugp1 |
A |
G |
8: 70,505,288 (GRCm39) |
D85G |
probably damaging |
Het |
Sun1 |
A |
G |
5: 139,212,454 (GRCm39) |
|
probably benign |
Het |
Tcp11l1 |
C |
A |
2: 104,527,850 (GRCm39) |
|
probably benign |
Het |
Tead3 |
A |
C |
17: 28,560,339 (GRCm39) |
D88E |
probably damaging |
Het |
Tecpr1 |
A |
T |
5: 144,144,294 (GRCm39) |
V636E |
possibly damaging |
Het |
Tldc2 |
T |
C |
2: 156,937,225 (GRCm39) |
W147R |
probably damaging |
Het |
Tmem161b |
A |
G |
13: 84,440,502 (GRCm39) |
T125A |
probably benign |
Het |
Trrap |
A |
G |
5: 144,753,149 (GRCm39) |
M1825V |
probably benign |
Het |
Ttbk2 |
A |
G |
2: 120,608,062 (GRCm39) |
F186L |
probably damaging |
Het |
U2surp |
C |
T |
9: 95,366,496 (GRCm39) |
V470I |
probably benign |
Het |
Zc3h7a |
T |
C |
16: 10,974,066 (GRCm39) |
M240V |
probably benign |
Het |
Zc3hc1 |
G |
C |
6: 30,372,789 (GRCm39) |
S351W |
probably damaging |
Het |
Zfp366 |
T |
C |
13: 99,370,759 (GRCm39) |
M493T |
probably benign |
Het |
Zfp93 |
C |
T |
7: 23,975,286 (GRCm39) |
P424S |
probably damaging |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGCCCTTTGCCTGACTCCTAAGC -3'
(R):5'- ACCAGTTTTCTGGGCCAGCATC -3'
Sequencing Primer
(F):5'- TACTAGCGTACATACGTGCAG -3'
(R):5'- CCGTCTAGTGTCCCTGTAGAAG -3'
|
Posted On |
2013-04-24 |