Incidental Mutation 'R8170:Plcb2'
ID |
634014 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plcb2
|
Ensembl Gene |
ENSMUSG00000040061 |
Gene Name |
phospholipase C, beta 2 |
Synonyms |
B230205M18Rik |
MMRRC Submission |
067596-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8170 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
118537998-118558919 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 118541934 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 892
(R892L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124364
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102524]
[ENSMUST00000159756]
|
AlphaFold |
A3KGF7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102524
AA Change: R915L
PolyPhen 2
Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000099583 Gene: ENSMUSG00000040061 AA Change: R915L
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 |
possibly damaging
Transcript: ENSMUST00000159756
AA Change: R892L
PolyPhen 2
Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000124364 Gene: ENSMUSG00000040061 AA Change: R892L
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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
100% (76/76) |
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
T |
C |
13: 77,411,713 (GRCm39) |
V595A |
probably benign |
Het |
A430033K04Rik |
A |
G |
5: 138,645,315 (GRCm39) |
E400G |
possibly damaging |
Het |
Abca16 |
C |
T |
7: 120,065,005 (GRCm39) |
T554I |
probably damaging |
Het |
Acadm |
T |
A |
3: 153,650,035 (GRCm39) |
R10W |
possibly damaging |
Het |
Arhgap45 |
G |
A |
10: 79,863,706 (GRCm39) |
A819T |
probably damaging |
Het |
Arhgef25 |
A |
G |
10: 127,023,048 (GRCm39) |
W120R |
probably damaging |
Het |
Atg7 |
A |
T |
6: 114,678,151 (GRCm39) |
Q347L |
probably benign |
Het |
Atl2 |
T |
C |
17: 80,163,690 (GRCm39) |
I316V |
possibly damaging |
Het |
B4galnt3 |
A |
T |
6: 120,183,577 (GRCm39) |
|
probably null |
Het |
Baiap2l1 |
A |
T |
5: 144,214,502 (GRCm39) |
Y397* |
probably null |
Het |
Cacna1b |
A |
G |
2: 24,568,886 (GRCm39) |
|
probably null |
Het |
Capn10 |
T |
C |
1: 92,862,686 (GRCm39) |
S31P |
probably damaging |
Het |
Casp8ap2 |
C |
T |
4: 32,615,490 (GRCm39) |
|
probably benign |
Het |
Ccdc122 |
A |
T |
14: 77,329,318 (GRCm39) |
I124L |
probably benign |
Het |
Ccdc90b |
A |
G |
7: 92,210,750 (GRCm39) |
S3G |
probably benign |
Het |
Cdc14b |
A |
T |
13: 64,363,549 (GRCm39) |
|
probably null |
Het |
Chd5 |
T |
A |
4: 152,461,040 (GRCm39) |
M1210K |
probably benign |
Het |
Clec18a |
T |
G |
8: 111,807,551 (GRCm39) |
K133T |
probably damaging |
Het |
Cog4 |
T |
A |
8: 111,592,663 (GRCm39) |
M413K |
probably damaging |
Het |
Cpa5 |
A |
T |
6: 30,624,594 (GRCm39) |
I145L |
probably benign |
Het |
Ctdspl2 |
T |
G |
2: 121,837,423 (GRCm39) |
S397A |
probably benign |
Het |
Dnah8 |
T |
A |
17: 30,892,797 (GRCm39) |
I794N |
probably damaging |
Het |
Ednrb |
T |
A |
14: 104,060,640 (GRCm39) |
T218S |
possibly damaging |
Het |
Eif3b |
T |
A |
5: 140,412,530 (GRCm39) |
|
probably null |
Het |
Fanci |
A |
C |
7: 79,083,305 (GRCm39) |
|
probably null |
Het |
Fat2 |
C |
T |
11: 55,161,281 (GRCm39) |
V3150M |
probably damaging |
Het |
Fat3 |
T |
C |
9: 15,858,792 (GRCm39) |
Y3808C |
probably damaging |
Het |
Gabrr1 |
T |
A |
4: 33,162,718 (GRCm39) |
L428Q |
probably damaging |
Het |
Garnl3 |
G |
C |
2: 32,905,235 (GRCm39) |
P488R |
possibly damaging |
Het |
Gli3 |
T |
C |
13: 15,894,793 (GRCm39) |
S656P |
probably benign |
Het |
Gpr153 |
T |
C |
4: 152,364,634 (GRCm39) |
I230T |
probably damaging |
Het |
Hoxc6 |
A |
G |
15: 102,918,293 (GRCm39) |
N86D |
probably benign |
Het |
Iqch |
T |
G |
9: 63,336,312 (GRCm39) |
R985S |
probably damaging |
Het |
Jun |
T |
A |
4: 94,938,559 (GRCm39) |
N317I |
probably damaging |
Het |
Kif26a |
T |
G |
12: 112,141,752 (GRCm39) |
|
probably null |
Het |
Map4k3 |
T |
C |
17: 80,913,289 (GRCm39) |
H627R |
possibly damaging |
Het |
Misp |
T |
A |
10: 79,662,300 (GRCm39) |
I239N |
probably benign |
Het |
Mpzl2 |
T |
A |
9: 44,955,019 (GRCm39) |
V27E |
probably damaging |
Het |
Mta3 |
T |
C |
17: 84,099,090 (GRCm39) |
S385P |
probably damaging |
Het |
Muc5b |
G |
A |
7: 141,414,737 (GRCm39) |
S2561N |
unknown |
Het |
Myh8 |
A |
G |
11: 67,179,092 (GRCm39) |
H495R |
probably benign |
Het |
Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
Nlrp5 |
A |
T |
7: 23,133,135 (GRCm39) |
T927S |
probably benign |
Het |
Nr5a2 |
T |
A |
1: 136,868,385 (GRCm39) |
D310V |
probably benign |
Het |
Nrbp1 |
A |
G |
5: 31,403,147 (GRCm39) |
T207A |
probably damaging |
Het |
Nxf1 |
G |
T |
19: 8,748,414 (GRCm39) |
L14F |
probably benign |
Het |
Or2a25 |
G |
A |
6: 42,889,125 (GRCm39) |
A223T |
possibly damaging |
Het |
Or6c207 |
T |
A |
10: 129,104,917 (GRCm39) |
N92Y |
possibly damaging |
Het |
Pcdhb15 |
A |
G |
18: 37,608,637 (GRCm39) |
E623G |
probably damaging |
Het |
Pid1 |
T |
C |
1: 84,262,721 (GRCm39) |
|
probably null |
Het |
Polr1a |
C |
G |
6: 71,897,733 (GRCm39) |
P243A |
probably benign |
Het |
Pot1a |
A |
G |
6: 25,758,802 (GRCm39) |
*326Q |
probably null |
Het |
Ppp5c |
G |
T |
7: 16,741,071 (GRCm39) |
F335L |
probably damaging |
Het |
Prl8a2 |
T |
C |
13: 27,536,794 (GRCm39) |
Y139H |
probably benign |
Het |
Rogdi |
G |
T |
16: 4,829,601 (GRCm39) |
R93S |
probably benign |
Het |
Rsph6a |
C |
A |
7: 18,791,505 (GRCm39) |
R225S |
probably damaging |
Het |
Septin8 |
T |
C |
11: 53,428,684 (GRCm39) |
S408P |
possibly damaging |
Het |
Sf3a2 |
T |
A |
10: 80,639,131 (GRCm39) |
|
probably null |
Het |
Shank3 |
T |
C |
15: 89,433,043 (GRCm39) |
S1263P |
possibly damaging |
Het |
Speer4f2 |
A |
C |
5: 17,579,459 (GRCm39) |
D86A |
|
Het |
Spmip8 |
A |
T |
8: 96,046,686 (GRCm39) |
I120F |
probably damaging |
Het |
Stard9 |
T |
C |
2: 120,530,529 (GRCm39) |
F2262S |
possibly damaging |
Het |
Svep1 |
T |
A |
4: 58,069,378 (GRCm39) |
I2803F |
probably benign |
Het |
Taf1c |
C |
T |
8: 120,329,565 (GRCm39) |
|
probably null |
Het |
Tasor2 |
G |
A |
13: 3,624,881 (GRCm39) |
Q1690* |
probably null |
Het |
Tfap2a |
C |
T |
13: 40,872,744 (GRCm39) |
V317I |
probably benign |
Het |
Thnsl2 |
T |
C |
6: 71,106,317 (GRCm39) |
T370A |
probably benign |
Het |
Tmem201 |
C |
T |
4: 149,803,177 (GRCm39) |
G564S |
probably benign |
Het |
Ttc41 |
A |
C |
10: 86,612,030 (GRCm39) |
E1101A |
probably damaging |
Het |
Ugcg |
T |
A |
4: 59,211,974 (GRCm39) |
F113L |
possibly damaging |
Het |
Unc80 |
G |
T |
1: 66,690,692 (GRCm39) |
V2456L |
probably benign |
Het |
Vav3 |
A |
T |
3: 109,331,323 (GRCm39) |
N74I |
probably damaging |
Het |
Vmn2r25 |
T |
A |
6: 123,829,976 (GRCm39) |
R58S |
probably benign |
Het |
Wdr97 |
C |
A |
15: 76,247,819 (GRCm39) |
F1614L |
|
Het |
Ylpm1 |
T |
A |
12: 85,080,801 (GRCm39) |
M1499K |
probably benign |
Het |
Zfp647 |
A |
G |
15: 76,795,571 (GRCm39) |
V363A |
possibly 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 |
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 |
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'- CTTGGCGATTTGCTGCGAAG -3'
(R):5'- AACTGAGGTGCCTCCAAAGC -3'
Sequencing Primer
(F):5'- CCTTGGCTGTGCAGAAAGG -3'
(R):5'- ACCTGACAGTCCAGCTCTGTG -3'
|
Posted On |
2020-07-13 |