Incidental Mutation 'R6380:Plcb2'
ID |
515248 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plcb2
|
Ensembl Gene |
ENSMUSG00000040061 |
Gene Name |
phospholipase C, beta 2 |
Synonyms |
B230205M18Rik |
MMRRC Submission |
044529-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6380 (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 118545949 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 579
(S579G)
|
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: S602G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099583 Gene: ENSMUSG00000040061 AA Change: S602G
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: S579G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124364 Gene: ENSMUSG00000040061 AA Change: S579G
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 |
0.6027 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.5%
|
Validation Efficiency |
100% (51/51) |
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 |
4930590J08Rik |
G |
A |
6: 91,900,118 (GRCm39) |
G424D |
probably damaging |
Het |
Aco1 |
T |
C |
4: 40,185,028 (GRCm39) |
V566A |
probably benign |
Het |
Adat1 |
G |
T |
8: 112,704,704 (GRCm39) |
T414K |
probably benign |
Het |
Alox12e |
A |
G |
11: 70,211,927 (GRCm39) |
V194A |
probably benign |
Het |
Anpep |
A |
G |
7: 79,491,644 (GRCm39) |
V119A |
probably benign |
Het |
Atat1 |
C |
A |
17: 36,219,849 (GRCm39) |
|
probably null |
Het |
Atp10a |
G |
A |
7: 58,469,432 (GRCm39) |
W1094* |
probably null |
Het |
Bcl11b |
T |
C |
12: 107,969,360 (GRCm39) |
R15G |
probably benign |
Het |
Bltp1 |
A |
G |
3: 37,087,456 (GRCm39) |
D4019G |
probably benign |
Het |
Btnl1 |
A |
G |
17: 34,598,468 (GRCm39) |
E28G |
probably benign |
Het |
Ccnd1 |
A |
G |
7: 144,493,306 (GRCm39) |
V42A |
probably benign |
Het |
Cdyl2 |
T |
A |
8: 117,309,923 (GRCm39) |
K344N |
probably damaging |
Het |
Cep68 |
A |
G |
11: 20,180,498 (GRCm39) |
M711T |
probably benign |
Het |
Cyp2j7 |
A |
G |
4: 96,118,211 (GRCm39) |
|
probably null |
Het |
Cyp3a25 |
A |
T |
5: 145,935,357 (GRCm39) |
D86E |
probably damaging |
Het |
Dclk1 |
G |
T |
3: 55,154,615 (GRCm39) |
R15L |
probably damaging |
Het |
Dpy19l1 |
T |
A |
9: 24,393,341 (GRCm39) |
K143* |
probably null |
Het |
Duox2 |
A |
G |
2: 122,111,483 (GRCm39) |
V1405A |
probably benign |
Het |
Filip1 |
T |
C |
9: 79,726,906 (GRCm39) |
E571G |
probably damaging |
Het |
Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
Jph1 |
T |
C |
1: 17,162,071 (GRCm39) |
N197S |
probably damaging |
Het |
Kcnt2 |
T |
C |
1: 140,437,322 (GRCm39) |
L535S |
probably damaging |
Het |
Lepr |
C |
A |
4: 101,622,151 (GRCm39) |
S361* |
probably null |
Het |
Lfng |
T |
A |
5: 140,600,151 (GRCm39) |
|
probably null |
Het |
Lpcat2 |
G |
A |
8: 93,613,209 (GRCm39) |
A250T |
probably benign |
Het |
Mab21l4 |
G |
A |
1: 93,088,613 (GRCm39) |
|
probably null |
Het |
Map3k4 |
A |
T |
17: 12,490,954 (GRCm39) |
M159K |
possibly damaging |
Het |
Notch3 |
A |
T |
17: 32,363,533 (GRCm39) |
C1177S |
probably damaging |
Het |
Olfml2b |
C |
T |
1: 170,496,800 (GRCm39) |
P477L |
probably benign |
Het |
Or51a5 |
A |
T |
7: 102,771,136 (GRCm39) |
F281Y |
probably benign |
Het |
Or5k16 |
T |
A |
16: 58,736,627 (GRCm39) |
I126L |
probably damaging |
Het |
Or6c33 |
A |
T |
10: 129,853,782 (GRCm39) |
H184L |
probably benign |
Het |
Pald1 |
G |
T |
10: 61,186,714 (GRCm39) |
F146L |
possibly damaging |
Het |
Pcdhga1 |
A |
G |
18: 37,796,022 (GRCm39) |
D342G |
probably damaging |
Het |
Prdm16 |
A |
T |
4: 154,425,824 (GRCm39) |
S654T |
probably benign |
Het |
Rab3gap2 |
C |
A |
1: 184,968,181 (GRCm39) |
L178I |
probably damaging |
Het |
Rbfox1 |
C |
T |
16: 7,042,214 (GRCm39) |
Q23* |
probably null |
Het |
Slc14a2 |
T |
G |
18: 78,190,190 (GRCm39) |
T920P |
probably benign |
Het |
Slc17a6 |
G |
A |
7: 51,317,211 (GRCm39) |
V411M |
probably benign |
Het |
Stard6 |
G |
A |
18: 70,609,459 (GRCm39) |
V33I |
probably benign |
Het |
Syce1 |
A |
T |
7: 140,358,978 (GRCm39) |
H178Q |
probably damaging |
Het |
Syne2 |
T |
A |
12: 76,151,754 (GRCm39) |
F1872I |
probably damaging |
Het |
Tor1aip1 |
T |
C |
1: 155,894,234 (GRCm39) |
E274G |
possibly damaging |
Het |
Trpm1 |
A |
T |
7: 63,918,045 (GRCm39) |
T462S |
probably benign |
Het |
Ugt3a1 |
C |
T |
15: 9,306,541 (GRCm39) |
A230V |
probably benign |
Het |
Vmn1r178 |
A |
G |
7: 23,592,984 (GRCm39) |
T11A |
possibly damaging |
Het |
Vmn2r69 |
A |
T |
7: 85,061,067 (GRCm39) |
N172K |
probably benign |
Het |
Whrn |
G |
T |
4: 63,336,829 (GRCm39) |
P136T |
possibly damaging |
Het |
Zfhx4 |
A |
G |
3: 5,478,170 (GRCm39) |
N3570S |
probably damaging |
Het |
Zfp689 |
A |
G |
7: 127,043,968 (GRCm39) |
S221P |
probably 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 |
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'- ATCAGATAAGCAGGGCCCAG -3'
(R):5'- TTCCTTCACGGAGCTCAAGG -3'
Sequencing Primer
(F):5'- ATCTGGGAATGCAGGGCC -3'
(R):5'- TTCACGGAGCTCAAGGCCTAC -3'
|
Posted On |
2018-05-04 |