Incidental Mutation 'R9773:Plcb2'
| ID |
733515 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcb2
|
| Ensembl Gene |
ENSMUSG00000040061 |
| Gene Name |
phospholipase C, beta 2 |
| Synonyms |
B230205M18Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9773 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
118537998-118558919 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 118541274 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 1021
(E1021G)
|
| 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: E1044G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099583
Gene: ENSMUSG00000040061
AA Change: E1044G
| 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 damaging
Transcript: ENSMUST00000159756
AA Change: E1021G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124364
Gene: ENSMUSG00000040061
AA Change: E1021G
| 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 |
0.4743 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 98.9%
|
| 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 |
|---|
| 4930562C15Rik |
T |
C |
16: 4,668,057 (GRCm39) |
Y483H |
possibly damaging |
Het |
| Abca17 |
A |
G |
17: 24,508,565 (GRCm39) |
L990P |
probably damaging |
Het |
| Ankrd65 |
A |
C |
4: 155,877,424 (GRCm39) |
T312P |
probably damaging |
Het |
| Atp23 |
G |
A |
10: 126,734,763 (GRCm39) |
T103M |
possibly damaging |
Het |
| Bmpr2 |
T |
A |
1: 59,907,497 (GRCm39) |
S863R |
probably damaging |
Het |
| Cacna1c |
T |
A |
6: 118,647,371 (GRCm39) |
N992I |
|
Het |
| Cacnb2 |
A |
G |
2: 14,976,452 (GRCm39) |
E291G |
probably damaging |
Het |
| Calcrl |
T |
C |
2: 84,200,462 (GRCm39) |
Q106R |
probably benign |
Het |
| Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
| Cngb1 |
G |
A |
8: 95,975,042 (GRCm39) |
H1144Y |
probably damaging |
Het |
| Cnot4 |
A |
T |
6: 35,056,920 (GRCm39) |
N50K |
probably damaging |
Het |
| Coasy |
T |
C |
11: 100,975,163 (GRCm39) |
L240P |
probably damaging |
Het |
| D7Ertd443e |
G |
A |
7: 133,959,803 (GRCm39) |
T12M |
probably benign |
Het |
| Exoc3l2 |
A |
G |
7: 19,203,697 (GRCm39) |
I96M |
|
Het |
| Fbn2 |
A |
G |
18: 58,143,481 (GRCm39) |
L2858P |
probably benign |
Het |
| Fbxw21 |
A |
G |
9: 108,977,128 (GRCm39) |
S194P |
possibly damaging |
Het |
| Fry |
T |
C |
5: 150,322,728 (GRCm39) |
L1040P |
probably damaging |
Het |
| Gimap8 |
C |
T |
6: 48,633,568 (GRCm39) |
P300S |
unknown |
Het |
| Gm10801 |
T |
G |
2: 98,494,345 (GRCm39) |
F141V |
probably benign |
Het |
| Gm21903 |
G |
A |
17: 39,353,541 (GRCm39) |
T25I |
unknown |
Het |
| Gucy2d |
T |
C |
7: 98,099,048 (GRCm39) |
V288A |
possibly damaging |
Het |
| Hs6st3 |
A |
T |
14: 120,106,948 (GRCm39) |
D452V |
probably benign |
Het |
| Igkv5-43 |
T |
A |
6: 69,752,858 (GRCm39) |
I75F |
probably damaging |
Het |
| Itgad |
G |
A |
7: 127,789,222 (GRCm39) |
R562H |
probably damaging |
Het |
| Kbtbd12 |
T |
A |
6: 88,524,744 (GRCm39) |
D613V |
probably damaging |
Het |
| Kcnn2 |
A |
G |
18: 45,788,365 (GRCm39) |
T363A |
probably damaging |
Het |
| Kyat3 |
A |
G |
3: 142,431,820 (GRCm39) |
I213M |
probably damaging |
Het |
| Lrig2 |
A |
T |
3: 104,368,838 (GRCm39) |
H948Q |
probably benign |
Het |
| Marchf7 |
C |
T |
2: 60,064,785 (GRCm39) |
R354* |
probably null |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Myh4 |
C |
T |
11: 67,137,263 (GRCm39) |
H495Y |
probably damaging |
Het |
| Or13a23-ps1 |
T |
C |
7: 140,118,649 (GRCm39) |
V73A |
probably benign |
Het |
| Or4d10b |
A |
T |
19: 12,036,939 (GRCm39) |
M59K |
possibly damaging |
Het |
| Or6c69c |
T |
A |
10: 129,910,360 (GRCm39) |
I27N |
possibly damaging |
Het |
| Plekhg2 |
G |
A |
7: 28,069,743 (GRCm39) |
P97S |
probably damaging |
Het |
| Pon1 |
T |
C |
6: 5,177,339 (GRCm39) |
Y190C |
possibly damaging |
Het |
| Pth1r |
C |
A |
9: 110,556,233 (GRCm39) |
R213S |
possibly damaging |
Het |
| Ptprg |
A |
G |
14: 12,199,806 (GRCm38) |
D848G |
probably damaging |
Het |
| Rnpepl1 |
C |
A |
1: 92,847,559 (GRCm39) |
D715E |
probably damaging |
Het |
| Serpinb3b |
C |
A |
1: 107,085,416 (GRCm39) |
K108N |
possibly damaging |
Het |
| Slc1a1 |
C |
T |
19: 28,870,283 (GRCm39) |
A94V |
probably damaging |
Het |
| Slc22a30 |
A |
T |
19: 8,321,754 (GRCm39) |
Y437N |
probably benign |
Het |
| Slc2a7 |
C |
T |
4: 150,234,044 (GRCm39) |
T53I |
possibly damaging |
Het |
| Spag1 |
A |
G |
15: 36,234,711 (GRCm39) |
T824A |
probably benign |
Het |
| Spmip7 |
G |
A |
11: 11,438,572 (GRCm39) |
V272M |
unknown |
Het |
| Synj2 |
T |
A |
17: 6,094,232 (GRCm39) |
Y1153N |
probably benign |
Het |
| Ttll2 |
A |
T |
17: 7,618,676 (GRCm39) |
I417K |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
| Uevld |
A |
G |
7: 46,597,659 (GRCm39) |
|
probably null |
Het |
| Vmn2r38 |
A |
G |
7: 9,097,806 (GRCm39) |
S96P |
probably damaging |
Het |
| Vmn2r92 |
A |
G |
17: 18,386,949 (GRCm39) |
N96S |
probably damaging |
Het |
| Vmn2r97 |
T |
A |
17: 19,168,221 (GRCm39) |
I825N |
probably benign |
Het |
| Vps13d |
T |
A |
4: 144,818,619 (GRCm39) |
M3083L |
|
Het |
| Wdr35 |
A |
G |
12: 9,039,990 (GRCm39) |
N365S |
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 |
|
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 |
|
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'- GCATCTGGGTTTTGCTCAAG -3'
(R):5'- ACAGGCTGCTGAACTCAAGAC -3'
Sequencing Primer
(F):5'- CTATAGAACTAACTTGTGAAGGGCC -3'
(R):5'- TGCTGAACTCAAGACCTTCAAGGAG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation