Incidental Mutation 'R7610:Plcb2'
ID |
588533 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plcb2
|
Ensembl Gene |
ENSMUSG00000040061 |
Gene Name |
phospholipase C, beta 2 |
Synonyms |
B230205M18Rik |
MMRRC Submission |
045679-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7610 (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 A
at 118550240 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 172
(N172I)
|
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: N195I
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000099583 Gene: ENSMUSG00000040061 AA Change: N195I
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: N172I
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000124364 Gene: ENSMUSG00000040061 AA Change: N172I
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 |
0.4045 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
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 |
Acta2 |
G |
A |
19: 34,229,931 (GRCm39) |
T8I |
probably benign |
Het |
Adtrp |
A |
G |
13: 41,969,670 (GRCm39) |
F110L |
probably benign |
Het |
Akap9 |
T |
G |
5: 4,007,677 (GRCm39) |
D230E |
possibly damaging |
Het |
Alg11 |
G |
A |
8: 22,555,147 (GRCm39) |
R136H |
probably damaging |
Het |
Ank3 |
A |
T |
10: 69,822,252 (GRCm39) |
N307I |
|
Het |
Ankrd17 |
A |
G |
5: 90,380,222 (GRCm39) |
S2489P |
possibly damaging |
Het |
Asf1b |
T |
G |
8: 84,691,678 (GRCm39) |
I43S |
probably damaging |
Het |
Cdc37l1 |
G |
T |
19: 28,985,132 (GRCm39) |
G261W |
possibly damaging |
Het |
Cpped1 |
C |
A |
16: 11,712,742 (GRCm39) |
|
probably null |
Het |
Ctsk |
T |
C |
3: 95,408,155 (GRCm39) |
F4L |
probably benign |
Het |
D130043K22Rik |
A |
T |
13: 25,059,985 (GRCm39) |
T619S |
probably benign |
Het |
Ddx25 |
T |
A |
9: 35,465,893 (GRCm39) |
L109F |
possibly damaging |
Het |
Dhrs9 |
C |
A |
2: 69,223,291 (GRCm39) |
A13D |
unknown |
Het |
Epha7 |
C |
T |
4: 28,871,937 (GRCm39) |
S422L |
probably benign |
Het |
Fam228a |
A |
G |
12: 4,781,423 (GRCm39) |
|
probably null |
Het |
Fancm |
T |
C |
12: 65,152,454 (GRCm39) |
V970A |
probably damaging |
Het |
Fcrl2 |
C |
A |
3: 87,160,004 (GRCm39) |
V417F |
probably damaging |
Het |
Fig4 |
C |
A |
10: 41,129,709 (GRCm39) |
A504S |
probably damaging |
Het |
Frmpd1 |
T |
C |
4: 45,279,098 (GRCm39) |
S608P |
probably damaging |
Het |
Ggta1 |
C |
T |
2: 35,304,230 (GRCm39) |
|
probably null |
Het |
Grb10 |
T |
C |
11: 11,893,955 (GRCm39) |
K377R |
probably benign |
Het |
Hivep3 |
CGG |
CG |
4: 119,955,108 (GRCm39) |
1141 |
probably null |
Het |
Klf14 |
A |
G |
6: 30,935,005 (GRCm39) |
S210P |
probably damaging |
Het |
Mcm3ap |
A |
G |
10: 76,332,554 (GRCm39) |
|
probably null |
Het |
Mgrn1 |
T |
C |
16: 4,752,097 (GRCm39) |
*533Q |
probably null |
Het |
Mtarc2 |
A |
G |
1: 184,551,483 (GRCm39) |
Y318H |
probably benign |
Het |
Notch1 |
A |
T |
2: 26,368,191 (GRCm39) |
H598Q |
probably benign |
Het |
Nt5el |
T |
A |
13: 105,247,695 (GRCm39) |
N338K |
probably damaging |
Het |
Ntng1 |
A |
G |
3: 109,842,141 (GRCm39) |
S211P |
probably damaging |
Het |
Or13a21 |
A |
T |
7: 139,999,466 (GRCm39) |
C73* |
probably null |
Het |
Or8i2 |
A |
G |
2: 86,852,141 (GRCm39) |
V249A |
possibly damaging |
Het |
Pgm5 |
A |
C |
19: 24,812,120 (GRCm39) |
N137K |
probably damaging |
Het |
Pramel26 |
A |
T |
4: 143,539,436 (GRCm39) |
M19K |
probably damaging |
Het |
Rab11fip1 |
G |
A |
8: 27,642,064 (GRCm39) |
H912Y |
probably benign |
Het |
Rgl1 |
A |
G |
1: 152,428,371 (GRCm39) |
V251A |
probably damaging |
Het |
Rgs6 |
T |
C |
12: 83,138,553 (GRCm39) |
Y296H |
probably damaging |
Het |
Rhpn1 |
A |
G |
15: 75,584,245 (GRCm39) |
T446A |
unknown |
Het |
Rtn3 |
A |
G |
19: 7,435,294 (GRCm39) |
S233P |
probably damaging |
Het |
Rwdd1 |
A |
C |
10: 33,877,134 (GRCm39) |
D203E |
probably benign |
Het |
Samd9l |
A |
G |
6: 3,376,754 (GRCm39) |
V169A |
probably benign |
Het |
Slfn5 |
T |
C |
11: 82,852,310 (GRCm39) |
L812P |
probably damaging |
Het |
Smc1b |
T |
C |
15: 84,955,021 (GRCm39) |
D1077G |
possibly damaging |
Het |
Snrnp48 |
A |
G |
13: 38,393,937 (GRCm39) |
R81G |
probably damaging |
Het |
Syt17 |
A |
T |
7: 118,033,682 (GRCm39) |
|
probably null |
Het |
Tpsg1 |
G |
T |
17: 25,592,184 (GRCm39) |
G86V |
probably damaging |
Het |
Ttc3 |
T |
C |
16: 94,228,697 (GRCm39) |
I757T |
probably benign |
Het |
Urb1 |
CACTTAC |
CAC |
16: 90,569,461 (GRCm39) |
|
probably benign |
Het |
Wdr54 |
C |
T |
6: 83,129,839 (GRCm39) |
V305M |
possibly damaging |
Het |
Xirp2 |
C |
T |
2: 67,356,306 (GRCm39) |
T3689I |
possibly damaging |
Het |
Zscan18 |
T |
C |
7: 12,503,237 (GRCm39) |
K774R |
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 |
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 |
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'- TGTACAACCCTGTGATTCCC -3'
(R):5'- TTCCAATCCCGGAACTAGCC -3'
Sequencing Primer
(F):5'- ACCCTGTGATTCCCAAAAGG -3'
(R):5'- TAACGGGCACTGCAGTCAG -3'
|
Posted On |
2019-10-24 |