Incidental Mutation 'R6792:Plcb2'
ID |
532626 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plcb2
|
Ensembl Gene |
ENSMUSG00000040061 |
Gene Name |
phospholipase C, beta 2 |
Synonyms |
B230205M18Rik |
MMRRC Submission |
044905-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6792 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
118537998-118558919 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 118549922 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 232
(N232S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124364
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102524]
[ENSMUST00000159756]
|
AlphaFold |
A3KGF7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000102524
AA Change: N255S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099583 Gene: ENSMUSG00000040061 AA Change: N255S
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 |
probably damaging
Transcript: ENSMUST00000159756
AA Change: N232S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124364 Gene: ENSMUSG00000040061 AA Change: N232S
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 |
0.8453 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.7%
|
Validation Efficiency |
98% (51/52) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
G |
A |
6: 128,523,292 (GRCm39) |
Q1215* |
probably null |
Het |
Aldh2 |
C |
T |
5: 121,718,712 (GRCm39) |
G64R |
probably damaging |
Het |
Atp11a |
G |
A |
8: 12,911,939 (GRCm39) |
|
probably benign |
Het |
Bcl11b |
T |
C |
12: 107,955,993 (GRCm39) |
D52G |
probably damaging |
Het |
Bltp1 |
A |
G |
3: 37,065,715 (GRCm39) |
|
probably null |
Het |
Capg |
T |
A |
6: 72,532,537 (GRCm39) |
I34K |
possibly damaging |
Het |
Card11 |
T |
A |
5: 140,899,064 (GRCm39) |
I37F |
probably damaging |
Het |
Col27a1 |
G |
T |
4: 63,235,740 (GRCm39) |
R724L |
unknown |
Het |
Cryl1 |
T |
C |
14: 57,620,224 (GRCm39) |
E47G |
probably damaging |
Het |
Dgkb |
A |
T |
12: 38,150,424 (GRCm39) |
D70V |
possibly damaging |
Het |
Dscam |
T |
C |
16: 96,394,455 (GRCm39) |
E1949G |
probably damaging |
Het |
Dscam |
A |
G |
16: 96,449,437 (GRCm39) |
V1387A |
probably damaging |
Het |
Exph5 |
G |
A |
9: 53,286,617 (GRCm39) |
V1233M |
possibly damaging |
Het |
Fat3 |
A |
T |
9: 16,286,940 (GRCm39) |
V861E |
probably damaging |
Het |
Fgfr4 |
T |
G |
13: 55,304,711 (GRCm39) |
D184E |
possibly damaging |
Het |
Fkbp14 |
G |
T |
6: 54,562,837 (GRCm39) |
S49* |
probably null |
Het |
Ginm1 |
T |
C |
10: 7,649,747 (GRCm39) |
D182G |
probably damaging |
Het |
Gk2 |
T |
C |
5: 97,603,588 (GRCm39) |
I417V |
probably benign |
Het |
Kmt2e |
TGCCGCCGCCGCCGCCACCGCCGCCGCCGC |
TGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGC |
5: 23,704,474 (GRCm39) |
|
probably benign |
Het |
Malrd1 |
C |
T |
2: 16,155,567 (GRCm39) |
P1992L |
unknown |
Het |
Mapk6 |
A |
T |
9: 75,302,830 (GRCm39) |
I221N |
probably damaging |
Het |
Mup9 |
A |
G |
4: 60,377,354 (GRCm39) |
V65A |
possibly damaging |
Het |
Myo15b |
A |
G |
11: 115,775,923 (GRCm39) |
D805G |
probably damaging |
Het |
Nup50l |
T |
C |
6: 96,142,096 (GRCm39) |
E316G |
possibly damaging |
Het |
Or52a5b |
A |
G |
7: 103,417,346 (GRCm39) |
I86T |
possibly damaging |
Het |
Or8k35 |
A |
T |
2: 86,424,283 (GRCm39) |
D296E |
probably benign |
Het |
Otof |
T |
A |
5: 30,532,978 (GRCm39) |
H1588L |
probably damaging |
Het |
Pakap |
A |
G |
4: 57,855,880 (GRCm39) |
D403G |
possibly damaging |
Het |
Pde4a |
A |
G |
9: 21,103,886 (GRCm39) |
K145R |
probably benign |
Het |
Pik3ap1 |
A |
T |
19: 41,310,065 (GRCm39) |
D418E |
probably benign |
Het |
Pilrb2 |
C |
A |
5: 137,866,852 (GRCm39) |
R217M |
possibly damaging |
Het |
Ppargc1b |
C |
A |
18: 61,440,747 (GRCm39) |
G724W |
probably damaging |
Het |
Ppp2r5d |
A |
G |
17: 47,015,782 (GRCm39) |
S2P |
probably benign |
Het |
Prr5l |
T |
G |
2: 101,547,769 (GRCm39) |
N252T |
probably benign |
Het |
Rbmyf5 |
A |
G |
Y: 3,298,867 (GRCm39) |
Y206H |
possibly damaging |
Homo |
Rilp |
A |
T |
11: 75,403,601 (GRCm39) |
K348* |
probably null |
Het |
Slc17a7 |
A |
G |
7: 44,824,299 (GRCm39) |
E505G |
possibly damaging |
Het |
Slc6a21 |
T |
A |
7: 44,929,309 (GRCm39) |
M1K |
probably null |
Het |
Sorcs1 |
T |
C |
19: 50,666,606 (GRCm39) |
T101A |
probably benign |
Het |
Sorl1 |
A |
T |
9: 42,010,559 (GRCm39) |
V137E |
probably damaging |
Het |
Stam2 |
T |
C |
2: 52,597,993 (GRCm39) |
I270V |
probably benign |
Het |
Synj2 |
G |
A |
17: 6,040,565 (GRCm39) |
A214T |
probably benign |
Het |
Tars3 |
G |
T |
7: 65,312,051 (GRCm39) |
C321F |
probably damaging |
Het |
Tcea1 |
T |
A |
1: 4,962,268 (GRCm39) |
D229E |
probably benign |
Het |
Tdrd9 |
C |
T |
12: 111,993,547 (GRCm39) |
R692W |
probably benign |
Het |
Tkfc |
T |
C |
19: 10,571,888 (GRCm39) |
T383A |
probably benign |
Het |
Traf1 |
T |
C |
2: 34,846,287 (GRCm39) |
D43G |
probably benign |
Het |
Tubgcp6 |
C |
T |
15: 89,007,080 (GRCm39) |
|
probably benign |
Het |
Vit |
A |
T |
17: 78,886,828 (GRCm39) |
Y152F |
probably damaging |
Het |
Vmn1r66 |
A |
T |
7: 10,008,412 (GRCm39) |
M207K |
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 |
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'- GTGAACAGCAAGCAGTCACG -3'
(R):5'- CGACGAGATCTTCACTTCCTAG -3'
Sequencing Primer
(F):5'- AAGCAGTCACGGCTGTCACTC -3'
(R):5'- ACTTCCTAGTGAGTTCCTTGGGC -3'
|
Posted On |
2018-08-29 |