Incidental Mutation 'R2426:Plcb2'
| ID |
250193 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcb2
|
| Ensembl Gene |
ENSMUSG00000040061 |
| Gene Name |
phospholipase C, beta 2 |
| Synonyms |
B230205M18Rik |
| MMRRC Submission |
040388-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2426 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
118537998-118558919 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 118546130 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 555
(T555M)
|
| 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: T578M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099583
Gene: ENSMUSG00000040061
AA Change: T578M
| 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 damaging
Transcript: ENSMUST00000159756
AA Change: T555M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124364
Gene: ENSMUSG00000040061
AA Change: T555M
| 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 |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
G |
T |
7: 119,882,446 (GRCm39) |
V1203L |
probably benign |
Het |
| Adamtsl1 |
G |
A |
4: 86,075,025 (GRCm39) |
V131I |
probably benign |
Het |
| Adgra3 |
A |
T |
5: 50,166,791 (GRCm39) |
M187K |
possibly damaging |
Het |
| Agbl1 |
T |
C |
7: 76,071,650 (GRCm39) |
V324A |
probably damaging |
Het |
| Ahnak |
A |
T |
19: 8,980,215 (GRCm39) |
I500F |
possibly damaging |
Het |
| Aldh1l1 |
A |
G |
6: 90,575,266 (GRCm39) |
D851G |
probably damaging |
Het |
| Amot |
T |
C |
X: 144,259,287 (GRCm39) |
K460E |
probably damaging |
Het |
| Arhgef3 |
G |
T |
14: 27,106,138 (GRCm39) |
E161* |
probably null |
Het |
| Atg9b |
A |
T |
5: 24,591,992 (GRCm39) |
I669N |
probably damaging |
Het |
| Ccdc83 |
A |
G |
7: 89,877,639 (GRCm39) |
Y268H |
probably damaging |
Het |
| Cep170 |
A |
G |
1: 176,602,201 (GRCm39) |
S302P |
probably benign |
Het |
| Cyp4a31 |
T |
A |
4: 115,428,213 (GRCm39) |
M303K |
probably damaging |
Het |
| Cyp4v3 |
T |
A |
8: 45,770,813 (GRCm39) |
Y231F |
probably benign |
Het |
| Defa39 |
T |
G |
8: 22,192,653 (GRCm39) |
K114N |
possibly damaging |
Het |
| Dock3 |
A |
T |
9: 106,791,740 (GRCm39) |
L1411Q |
possibly damaging |
Het |
| Dsg1a |
T |
A |
18: 20,469,861 (GRCm39) |
I629N |
probably damaging |
Het |
| Dst |
A |
T |
1: 34,231,893 (GRCm39) |
H2837L |
probably benign |
Het |
| Fam114a2 |
G |
A |
11: 57,383,906 (GRCm39) |
P343L |
probably benign |
Het |
| Fbrs |
A |
G |
7: 127,086,511 (GRCm39) |
|
probably null |
Het |
| Fbxl13 |
A |
C |
5: 21,727,135 (GRCm39) |
D620E |
probably damaging |
Het |
| Frmd4a |
T |
A |
2: 4,534,673 (GRCm39) |
S164T |
probably damaging |
Het |
| Gdi2 |
T |
G |
13: 3,612,034 (GRCm39) |
S330A |
probably benign |
Het |
| Gm5878 |
A |
T |
6: 85,095,613 (GRCm39) |
M70K |
probably benign |
Het |
| H2-Q6 |
G |
T |
17: 35,643,913 (GRCm39) |
A21S |
probably benign |
Het |
| Hfm1 |
A |
T |
5: 106,995,519 (GRCm39) |
|
probably null |
Het |
| Hnmt |
C |
T |
2: 23,909,167 (GRCm39) |
C82Y |
probably benign |
Het |
| Il1rl1 |
C |
A |
1: 40,485,779 (GRCm39) |
A310D |
probably damaging |
Het |
| Ints1 |
A |
T |
5: 139,757,569 (GRCm39) |
|
probably null |
Het |
| Kcne4 |
C |
A |
1: 78,795,688 (GRCm39) |
A112E |
possibly damaging |
Het |
| Krt32 |
T |
C |
11: 99,977,192 (GRCm39) |
K236R |
possibly damaging |
Het |
| Maml2 |
T |
C |
9: 13,617,794 (GRCm39) |
L380P |
probably damaging |
Het |
| Meis1 |
A |
T |
11: 18,938,356 (GRCm39) |
D218E |
possibly damaging |
Het |
| Mon1b |
G |
A |
8: 114,365,752 (GRCm39) |
G360D |
probably damaging |
Het |
| Mpp4 |
A |
G |
1: 59,169,216 (GRCm39) |
S383P |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,059,065 (GRCm39) |
|
probably null |
Het |
| Nlgn2 |
A |
T |
11: 69,717,912 (GRCm39) |
I431N |
probably damaging |
Het |
| Nr2e1 |
A |
G |
10: 42,439,481 (GRCm39) |
L134P |
probably damaging |
Het |
| Opcml |
G |
A |
9: 28,814,663 (GRCm39) |
|
probably null |
Het |
| Or2t29 |
A |
T |
11: 58,433,920 (GRCm39) |
Y127* |
probably null |
Het |
| Or6c207 |
T |
C |
10: 129,105,135 (GRCm39) |
Q19R |
probably benign |
Het |
| Or7c19 |
T |
C |
8: 85,957,693 (GRCm39) |
S190P |
probably damaging |
Het |
| Pate2 |
A |
T |
9: 35,581,776 (GRCm39) |
|
probably null |
Het |
| Pgr |
G |
A |
9: 8,900,718 (GRCm39) |
V84M |
probably damaging |
Het |
| Pigu |
A |
T |
2: 155,141,002 (GRCm39) |
V296D |
probably damaging |
Het |
| Pld5 |
T |
G |
1: 175,791,542 (GRCm39) |
D426A |
probably benign |
Het |
| Prdm2 |
G |
T |
4: 142,838,320 (GRCm39) |
C1679* |
probably null |
Het |
| Psme2b |
A |
T |
11: 48,836,890 (GRCm39) |
V19D |
probably benign |
Het |
| Ptpn9 |
A |
T |
9: 56,934,712 (GRCm39) |
N159Y |
possibly damaging |
Het |
| Sanbr |
T |
A |
11: 23,526,801 (GRCm39) |
R190W |
probably damaging |
Het |
| Sdc3 |
A |
T |
4: 130,546,114 (GRCm39) |
T64S |
unknown |
Het |
| Serping1 |
T |
G |
2: 84,600,563 (GRCm39) |
S260R |
probably damaging |
Het |
| Slc20a1 |
T |
C |
2: 129,050,150 (GRCm39) |
F436S |
probably benign |
Het |
| Sntb1 |
A |
T |
15: 55,769,575 (GRCm39) |
I138N |
probably damaging |
Het |
| Sorcs3 |
A |
T |
19: 48,711,364 (GRCm39) |
Y643F |
probably damaging |
Het |
| Spink1 |
G |
T |
18: 43,868,287 (GRCm39) |
S23* |
probably null |
Het |
| Stag1 |
T |
C |
9: 100,727,169 (GRCm39) |
|
probably null |
Het |
| Tnfaip8l1 |
G |
A |
17: 56,479,030 (GRCm39) |
V107I |
probably benign |
Het |
| Tnik |
A |
G |
3: 28,700,830 (GRCm39) |
S907G |
probably damaging |
Het |
| Ttf1 |
T |
A |
2: 28,957,197 (GRCm39) |
M489K |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Usp54 |
G |
A |
14: 20,615,008 (GRCm39) |
A811V |
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,344,815 (GRCm39) |
N2352S |
probably benign |
Het |
| Zan |
T |
C |
5: 137,387,254 (GRCm39) |
Y4933C |
unknown |
Het |
| Zbtb8a |
A |
G |
4: 129,254,012 (GRCm39) |
S161P |
probably benign |
Het |
| Zkscan5 |
A |
T |
5: 145,157,750 (GRCm39) |
I751L |
probably benign |
Het |
| Zscan4d |
A |
G |
7: 10,899,022 (GRCm39) |
F85S |
probably damaging |
Het |
| Zzef1 |
A |
G |
11: 72,806,091 (GRCm39) |
M2647V |
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 |
|
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'- GGGCATGTAGTTGGAAGAGTCC -3'
(R):5'- AATCTGGCTGCTACTAGGCC -3'
Sequencing Primer
(F):5'- AAGAGTCCATGCGTGTGC -3'
(R):5'- TGCTACTAGGCCCTCAGAC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation