Incidental Mutation 'R0366:Plcb2'
ID |
36396 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plcb2
|
Ensembl Gene |
ENSMUSG00000040061 |
Gene Name |
phospholipase C, beta 2 |
Synonyms |
B230205M18Rik |
MMRRC Submission |
038572-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0366 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
118537998-118558919 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 118554928 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 58
(F58L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099583
(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: F58L
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000099583 Gene: ENSMUSG00000040061 AA Change: F58L
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 benign
Transcript: ENSMUST00000159756
|
SMART Domains |
Protein: ENSMUSP00000124364 Gene: ENSMUSG00000040061
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 |
0.0699 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.9%
|
Validation Efficiency |
99% (68/69) |
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 |
Abcc10 |
G |
T |
17: 46,635,724 (GRCm39) |
S93* |
probably null |
Het |
Ackr2 |
T |
C |
9: 121,738,426 (GRCm39) |
L267P |
probably damaging |
Het |
Adgre4 |
T |
A |
17: 56,099,001 (GRCm39) |
L169* |
probably null |
Het |
Ankrd12 |
T |
A |
17: 66,291,501 (GRCm39) |
S1311C |
possibly damaging |
Het |
Arid2 |
T |
A |
15: 96,259,601 (GRCm39) |
|
probably benign |
Het |
Atp9b |
A |
T |
18: 80,805,317 (GRCm39) |
V747E |
probably damaging |
Het |
Best1 |
T |
C |
19: 9,969,417 (GRCm39) |
|
probably null |
Het |
Brwd1 |
C |
A |
16: 95,839,164 (GRCm39) |
E836* |
probably null |
Het |
Cachd1 |
A |
G |
4: 100,851,934 (GRCm39) |
S1177G |
possibly damaging |
Het |
Cacna1e |
C |
T |
1: 154,291,884 (GRCm39) |
E1766K |
probably benign |
Het |
Cckar |
A |
G |
5: 53,857,507 (GRCm39) |
I301T |
probably benign |
Het |
Cdc27 |
T |
G |
11: 104,396,474 (GRCm39) |
T816P |
probably damaging |
Het |
Cep162 |
T |
G |
9: 87,102,537 (GRCm39) |
Q708H |
probably damaging |
Het |
Cep250 |
C |
A |
2: 155,830,321 (GRCm39) |
D1301E |
probably benign |
Het |
D430041D05Rik |
G |
A |
2: 104,085,685 (GRCm39) |
H955Y |
probably damaging |
Het |
Dcdc2a |
T |
A |
13: 25,240,417 (GRCm39) |
V55E |
probably damaging |
Het |
Efcab12 |
A |
G |
6: 115,800,209 (GRCm39) |
|
probably benign |
Het |
Ep400 |
A |
G |
5: 110,849,537 (GRCm39) |
V1428A |
unknown |
Het |
Erbb3 |
T |
C |
10: 128,408,439 (GRCm39) |
E825G |
possibly damaging |
Het |
Evl |
A |
T |
12: 108,652,307 (GRCm39) |
|
probably null |
Het |
Fuca2 |
G |
A |
10: 13,381,507 (GRCm39) |
R140H |
probably benign |
Het |
Gm5581 |
T |
C |
6: 131,143,410 (GRCm39) |
|
noncoding transcript |
Het |
Gm7052 |
T |
C |
17: 22,259,498 (GRCm39) |
|
probably benign |
Het |
Gpd1 |
T |
G |
15: 99,617,151 (GRCm39) |
I119S |
probably damaging |
Het |
Gzmc |
A |
T |
14: 56,470,193 (GRCm39) |
Y101* |
probably null |
Het |
Hmcn2 |
G |
T |
2: 31,314,218 (GRCm39) |
A3588S |
possibly damaging |
Het |
Ikbkb |
A |
G |
8: 23,185,276 (GRCm39) |
|
probably benign |
Het |
Itgax |
G |
T |
7: 127,748,261 (GRCm39) |
|
probably benign |
Het |
Kif24 |
C |
A |
4: 41,428,717 (GRCm39) |
S81I |
possibly damaging |
Het |
Lct |
G |
A |
1: 128,214,199 (GRCm39) |
P1858S |
probably benign |
Het |
Map2k1 |
C |
A |
9: 64,100,984 (GRCm39) |
|
probably null |
Het |
Mdga1 |
A |
G |
17: 30,076,682 (GRCm39) |
V30A |
possibly damaging |
Het |
Meiosin |
T |
A |
7: 18,840,964 (GRCm39) |
I57F |
probably damaging |
Het |
Mtcl1 |
G |
A |
17: 66,645,124 (GRCm39) |
P1441L |
probably damaging |
Het |
N4bp2 |
T |
A |
5: 65,963,739 (GRCm39) |
F596Y |
possibly damaging |
Het |
Notch4 |
A |
T |
17: 34,800,473 (GRCm39) |
|
probably benign |
Het |
Or2l5 |
A |
G |
16: 19,333,598 (GRCm39) |
S263P |
probably benign |
Het |
Or4c12 |
A |
C |
2: 89,774,162 (GRCm39) |
V99G |
possibly damaging |
Het |
Or6c1 |
A |
G |
10: 129,517,840 (GRCm39) |
M256T |
possibly damaging |
Het |
Or8b44 |
T |
A |
9: 38,410,450 (GRCm39) |
C162S |
possibly damaging |
Het |
Or8k25 |
A |
G |
2: 86,244,369 (GRCm39) |
V9A |
possibly damaging |
Het |
Pbld2 |
A |
G |
10: 62,889,736 (GRCm39) |
|
probably benign |
Het |
Phip |
T |
C |
9: 82,808,460 (GRCm39) |
Y505C |
probably damaging |
Het |
Plcd1 |
T |
A |
9: 118,910,204 (GRCm39) |
I72F |
probably damaging |
Het |
Ppp5c |
A |
T |
7: 16,756,508 (GRCm39) |
Y63* |
probably null |
Het |
Prdm4 |
T |
C |
10: 85,743,868 (GRCm39) |
D129G |
probably damaging |
Het |
Prkcq |
C |
A |
2: 11,251,649 (GRCm39) |
|
probably benign |
Het |
Rab5b |
C |
T |
10: 128,518,772 (GRCm39) |
R120Q |
probably benign |
Het |
Rab7b |
T |
A |
1: 131,626,242 (GRCm39) |
V90D |
probably damaging |
Het |
Ripk3 |
T |
C |
14: 56,024,292 (GRCm39) |
T193A |
probably damaging |
Het |
Rnf167 |
C |
T |
11: 70,540,143 (GRCm39) |
R88* |
probably null |
Het |
Robo1 |
A |
G |
16: 72,539,133 (GRCm39) |
T59A |
possibly damaging |
Het |
Scd2 |
G |
A |
19: 44,289,685 (GRCm39) |
V227I |
probably benign |
Het |
Scg3 |
T |
A |
9: 75,582,620 (GRCm39) |
|
probably benign |
Het |
Sec31a |
A |
T |
5: 100,530,625 (GRCm39) |
L677H |
probably damaging |
Het |
Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
Setd7 |
T |
C |
3: 51,457,741 (GRCm39) |
T29A |
probably benign |
Het |
Shoc1 |
A |
C |
4: 59,099,410 (GRCm39) |
M94R |
probably benign |
Het |
Slc4a5 |
A |
G |
6: 83,272,854 (GRCm39) |
Y942C |
probably benign |
Het |
Slit1 |
T |
A |
19: 41,599,470 (GRCm39) |
Y1027F |
probably damaging |
Het |
Sptan1 |
G |
A |
2: 29,882,764 (GRCm39) |
|
probably null |
Het |
Tdrd12 |
T |
C |
7: 35,208,227 (GRCm39) |
Q249R |
probably benign |
Het |
Tmem171 |
T |
A |
13: 98,828,736 (GRCm39) |
D138V |
possibly damaging |
Het |
Ttll10 |
G |
A |
4: 156,119,612 (GRCm39) |
R596W |
probably damaging |
Het |
Usp53 |
G |
T |
3: 122,742,850 (GRCm39) |
N695K |
probably damaging |
Het |
Vmn2r25 |
A |
T |
6: 123,800,581 (GRCm39) |
L587* |
probably null |
Het |
Zglp1 |
C |
T |
9: 20,974,675 (GRCm39) |
C171Y |
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 |
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 |
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'- ATCTGGTCACACAGATAGGCTCCC -3'
(R):5'- ACAGGCGCAGCCATTTAGAGAAAC -3'
Sequencing Primer
(F):5'- AGATAGGCTCCCCACCTC -3'
(R):5'- GCAGCTCTTATTCCAGGGAAG -3'
|
Posted On |
2013-05-09 |