Incidental Mutation 'R4422:Plcb2'
ID |
371170 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plcb2
|
Ensembl Gene |
ENSMUSG00000040061 |
Gene Name |
phospholipase C, beta 2 |
Synonyms |
B230205M18Rik |
MMRRC Submission |
041695-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4422 (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 118542484 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 821
(K821E)
|
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 benign
Transcript: ENSMUST00000102524
AA Change: K844E
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000099583 Gene: ENSMUSG00000040061 AA Change: K844E
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 benign
Transcript: ENSMUST00000159756
AA Change: K821E
PolyPhen 2
Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000124364 Gene: ENSMUSG00000040061 AA Change: K821E
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 |
0.0950 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
96% (67/70) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts13 |
T |
C |
2: 26,895,412 (GRCm39) |
S1168P |
probably benign |
Het |
Adgrf2 |
T |
C |
17: 43,024,046 (GRCm39) |
M142V |
probably benign |
Het |
Akna |
G |
T |
4: 63,305,330 (GRCm39) |
Q479K |
possibly damaging |
Het |
Arhgef9 |
T |
G |
X: 94,144,670 (GRCm39) |
I131L |
possibly damaging |
Het |
AW551984 |
A |
T |
9: 39,511,373 (GRCm39) |
C111S |
probably null |
Het |
Bak1 |
C |
A |
17: 27,240,298 (GRCm39) |
G130W |
probably damaging |
Het |
Bank1 |
T |
A |
3: 135,788,972 (GRCm39) |
Q441L |
probably damaging |
Het |
C030034I22Rik |
T |
C |
17: 69,725,153 (GRCm39) |
|
noncoding transcript |
Het |
Capns2 |
T |
A |
8: 93,628,252 (GRCm39) |
I47N |
possibly damaging |
Het |
Cct7 |
A |
G |
6: 85,444,127 (GRCm39) |
R355G |
probably damaging |
Het |
Cd19 |
C |
T |
7: 126,012,578 (GRCm39) |
V272I |
probably benign |
Het |
Cenpf |
A |
G |
1: 189,390,547 (GRCm39) |
L1095S |
probably damaging |
Het |
Cep44 |
G |
A |
8: 56,991,652 (GRCm39) |
P317S |
probably benign |
Het |
Chrm3 |
A |
T |
13: 9,928,591 (GRCm39) |
Y148* |
probably null |
Het |
Chrnb3 |
T |
C |
8: 27,886,761 (GRCm39) |
V445A |
possibly damaging |
Het |
Col4a4 |
T |
A |
1: 82,467,559 (GRCm39) |
M852L |
unknown |
Het |
Dhx29 |
T |
C |
13: 113,083,781 (GRCm39) |
L612P |
probably damaging |
Het |
Dlgap2 |
T |
C |
8: 14,793,463 (GRCm39) |
|
probably null |
Het |
Dnah17 |
T |
C |
11: 117,972,799 (GRCm39) |
T2045A |
possibly damaging |
Het |
Dync1li1 |
A |
G |
9: 114,538,377 (GRCm39) |
T245A |
probably damaging |
Het |
Epha4 |
T |
C |
1: 77,488,354 (GRCm39) |
E42G |
probably damaging |
Het |
Fam120b |
C |
A |
17: 15,622,445 (GRCm39) |
T141K |
probably damaging |
Het |
Fhod1 |
T |
C |
8: 106,063,983 (GRCm39) |
|
probably benign |
Het |
Gcnt2 |
T |
G |
13: 41,014,001 (GRCm39) |
Y57* |
probably null |
Het |
Gm5409 |
C |
T |
6: 41,396,519 (GRCm39) |
|
noncoding transcript |
Het |
Hip1r |
A |
G |
5: 124,135,069 (GRCm39) |
K402E |
possibly damaging |
Het |
Hlcs |
G |
A |
16: 93,939,819 (GRCm39) |
P506L |
possibly damaging |
Het |
Itih4 |
T |
A |
14: 30,611,821 (GRCm39) |
F142I |
probably damaging |
Het |
Krt78 |
T |
C |
15: 101,856,375 (GRCm39) |
T479A |
probably benign |
Het |
Lamb2 |
A |
G |
9: 108,360,754 (GRCm39) |
D518G |
probably damaging |
Het |
Ldlr |
G |
A |
9: 21,649,248 (GRCm39) |
C341Y |
probably damaging |
Het |
Lsr |
G |
T |
7: 30,665,422 (GRCm39) |
N177K |
probably benign |
Het |
Macf1 |
G |
A |
4: 123,359,839 (GRCm39) |
S1815F |
probably damaging |
Het |
Mms22l |
T |
C |
4: 24,503,008 (GRCm39) |
S95P |
probably damaging |
Het |
Mon2 |
A |
G |
10: 122,878,887 (GRCm39) |
L218P |
probably damaging |
Het |
Nlrp4f |
C |
T |
13: 65,332,776 (GRCm39) |
|
probably null |
Het |
Nrde2 |
G |
A |
12: 100,112,286 (GRCm39) |
Q137* |
probably null |
Het |
Or12e10 |
C |
A |
2: 87,640,989 (GRCm39) |
T275K |
probably damaging |
Het |
Or51l14 |
G |
T |
7: 103,101,450 (GRCm39) |
R302L |
probably damaging |
Het |
Or6z7 |
G |
T |
7: 6,484,037 (GRCm39) |
Y39* |
probably null |
Het |
Phf24 |
G |
A |
4: 42,934,817 (GRCm39) |
C151Y |
probably damaging |
Het |
Pik3r1 |
T |
G |
13: 101,830,892 (GRCm39) |
N3T |
probably benign |
Het |
Ppat |
A |
G |
5: 77,063,061 (GRCm39) |
W517R |
probably damaging |
Het |
Prelid2 |
T |
C |
18: 42,045,461 (GRCm39) |
T150A |
probably benign |
Het |
Psg21 |
A |
G |
7: 18,381,257 (GRCm39) |
S429P |
probably damaging |
Het |
Reg4 |
T |
C |
3: 98,140,360 (GRCm39) |
Y114H |
possibly damaging |
Het |
Rsbn1l |
G |
T |
5: 21,101,544 (GRCm39) |
H665Q |
probably damaging |
Het |
Rspo2 |
T |
C |
15: 43,033,150 (GRCm39) |
N24S |
probably benign |
Het |
Ryr2 |
G |
T |
13: 11,731,952 (GRCm39) |
C2329* |
probably null |
Het |
Skint2 |
T |
A |
4: 112,441,785 (GRCm39) |
|
probably benign |
Het |
Spmap2l |
T |
C |
5: 77,202,383 (GRCm39) |
I268T |
possibly damaging |
Het |
Syvn1 |
C |
T |
19: 6,099,951 (GRCm39) |
|
probably benign |
Het |
Tmem53 |
T |
C |
4: 117,123,149 (GRCm39) |
Y37H |
probably damaging |
Het |
Tmem59l |
G |
A |
8: 70,938,749 (GRCm39) |
R111W |
probably damaging |
Het |
Tnks2 |
G |
A |
19: 36,823,053 (GRCm39) |
V107I |
probably damaging |
Het |
Tpcn1 |
T |
C |
5: 120,680,583 (GRCm39) |
K549R |
probably damaging |
Het |
Tubgcp4 |
T |
A |
2: 121,019,882 (GRCm39) |
L404* |
probably null |
Het |
Vmn2r86 |
T |
C |
10: 130,288,845 (GRCm39) |
I219V |
possibly damaging |
Het |
Vsig10 |
T |
C |
5: 117,462,986 (GRCm39) |
S71P |
probably benign |
Het |
Wnk1 |
T |
C |
6: 119,930,856 (GRCm39) |
N896S |
probably benign |
Het |
Zfp871 |
T |
A |
17: 32,993,808 (GRCm39) |
S437C |
probably benign |
Het |
Zfp871 |
C |
A |
17: 32,993,807 (GRCm39) |
S456I |
probably benign |
Het |
Zfp873 |
A |
G |
10: 81,896,708 (GRCm39) |
T480A |
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 |
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'- AGTGTTGAGGCTTCCGATTCAG -3'
(R):5'- TCTTACAGTAGCCCTTGCCAAC -3'
Sequencing Primer
(F):5'- GATCTTCCCTCCCCGGATGAAAG -3'
(R):5'- TTCAATGCCCAGGATAAGAAGTCCG -3'
|
Posted On |
2016-02-29 |