Incidental Mutation 'R9072:Plcb2'
ID |
700786 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plcb2
|
Ensembl Gene |
ENSMUSG00000040061 |
Gene Name |
phospholipase C, beta 2 |
Synonyms |
B230205M18Rik |
MMRRC Submission |
068894-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9072 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
118537998-118558919 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 118547878 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 472
(T472M)
|
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: T495M
PolyPhen 2
Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000099583 Gene: ENSMUSG00000040061 AA Change: T495M
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: T472M
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000124364 Gene: ENSMUSG00000040061 AA Change: T472M
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 |
0.1712 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
100% (63/63) |
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 |
Abca13 |
A |
C |
11: 9,240,834 (GRCm39) |
E899A |
possibly damaging |
Het |
Best2 |
T |
A |
8: 85,737,418 (GRCm39) |
I230F |
probably damaging |
Het |
C2cd2 |
T |
C |
16: 97,676,403 (GRCm39) |
E448G |
probably damaging |
Het |
C2cd3 |
T |
G |
7: 100,040,291 (GRCm39) |
S287A |
probably benign |
Het |
Camta2 |
G |
A |
11: 70,567,234 (GRCm39) |
P677S |
probably benign |
Het |
Cand2 |
C |
T |
6: 115,769,490 (GRCm39) |
R767C |
probably damaging |
Het |
Celsr3 |
G |
A |
9: 108,704,293 (GRCm39) |
E259K |
probably benign |
Het |
Cep250 |
C |
G |
2: 155,834,035 (GRCm39) |
Q1987E |
probably benign |
Het |
Chn1 |
T |
C |
2: 73,443,430 (GRCm39) |
D440G |
probably benign |
Het |
Cmbl |
A |
T |
15: 31,585,449 (GRCm39) |
D111V |
possibly damaging |
Het |
Col5a3 |
T |
A |
9: 20,682,453 (GRCm39) |
I1664F |
unknown |
Het |
Cp |
T |
C |
3: 20,033,158 (GRCm39) |
S662P |
possibly damaging |
Het |
Cpne5 |
G |
A |
17: 29,430,677 (GRCm39) |
R78C |
probably damaging |
Het |
Cst5 |
A |
G |
2: 149,249,261 (GRCm39) |
T104A |
probably benign |
Het |
Cyp11b2 |
A |
G |
15: 74,725,662 (GRCm39) |
F195S |
possibly damaging |
Het |
Dcaf17 |
T |
C |
2: 70,920,136 (GRCm39) |
Y475H |
probably benign |
Het |
Edem2 |
G |
C |
2: 155,571,212 (GRCm39) |
L16V |
unknown |
Het |
Eeig1 |
A |
G |
2: 32,455,674 (GRCm39) |
S267G |
probably benign |
Het |
Ext2 |
A |
G |
2: 93,644,144 (GRCm39) |
W46R |
probably benign |
Het |
Gal3st3 |
T |
A |
19: 5,352,605 (GRCm39) |
S11T |
probably benign |
Het |
Garin5b |
A |
T |
7: 4,762,253 (GRCm39) |
H265Q |
|
Het |
Gfi1 |
T |
A |
5: 107,865,725 (GRCm39) |
I451F |
possibly damaging |
Het |
Gfpt2 |
T |
C |
11: 49,714,185 (GRCm39) |
L314P |
probably damaging |
Het |
Gm3250 |
A |
T |
10: 77,618,127 (GRCm39) |
C84S |
unknown |
Het |
Hmcn1 |
A |
T |
1: 150,565,320 (GRCm39) |
V2269E |
probably benign |
Het |
Ighv1-55 |
T |
C |
12: 115,172,013 (GRCm39) |
H18R |
probably benign |
Het |
Iqgap3 |
G |
A |
3: 87,998,883 (GRCm39) |
G328E |
probably benign |
Het |
Klf6 |
G |
T |
13: 5,917,233 (GRCm39) |
C303F |
probably benign |
Het |
Klhl35 |
A |
T |
7: 99,122,129 (GRCm39) |
S77C |
probably damaging |
Het |
Ktn1 |
T |
G |
14: 47,941,694 (GRCm39) |
V822G |
probably benign |
Het |
Lbhd2 |
G |
T |
12: 111,375,040 (GRCm39) |
G21W |
probably damaging |
Het |
Lrp1b |
G |
A |
2: 40,615,457 (GRCm39) |
R3649* |
probably null |
Het |
Map2 |
C |
A |
1: 66,453,312 (GRCm39) |
T734N |
probably damaging |
Het |
Mas1 |
A |
G |
17: 13,060,839 (GRCm39) |
F195L |
possibly damaging |
Het |
Med1 |
A |
T |
11: 98,080,009 (GRCm39) |
M44K |
possibly damaging |
Het |
Morc3 |
T |
C |
16: 93,667,482 (GRCm39) |
V620A |
probably benign |
Het |
Naip2 |
T |
C |
13: 100,291,468 (GRCm39) |
S1157G |
probably benign |
Het |
Naip2 |
C |
T |
13: 100,291,459 (GRCm39) |
D1160N |
probably benign |
Het |
Nucb2 |
T |
A |
7: 116,125,631 (GRCm39) |
I159N |
probably damaging |
Het |
Olfm5 |
A |
G |
7: 103,802,984 (GRCm39) |
L493P |
probably benign |
Het |
Or1e1 |
T |
G |
11: 73,244,797 (GRCm39) |
F73V |
probably damaging |
Het |
Or2ag15 |
A |
T |
7: 106,340,759 (GRCm39) |
C127* |
probably null |
Het |
Or56b1 |
C |
T |
7: 104,285,291 (GRCm39) |
R137C |
probably benign |
Het |
Pcdhb22 |
T |
A |
18: 37,651,813 (GRCm39) |
C94S |
probably damaging |
Het |
Pcdhga5 |
A |
G |
18: 37,829,537 (GRCm39) |
I662V |
probably benign |
Het |
Plcb4 |
A |
G |
2: 135,849,795 (GRCm39) |
E1142G |
possibly damaging |
Het |
Pmm1 |
C |
T |
15: 81,839,896 (GRCm39) |
R143H |
probably damaging |
Het |
Polr2l |
T |
C |
7: 141,053,285 (GRCm39) |
Y43C |
probably damaging |
Het |
Prkcb |
T |
A |
7: 122,127,771 (GRCm39) |
N298K |
probably benign |
Het |
Ptar1 |
T |
A |
19: 23,695,414 (GRCm39) |
C294S |
probably benign |
Het |
Ptprq |
T |
C |
10: 107,401,736 (GRCm39) |
I1919V |
|
Het |
Slc25a18 |
C |
T |
6: 120,769,022 (GRCm39) |
R180C |
probably benign |
Het |
Slc27a3 |
A |
C |
3: 90,295,768 (GRCm39) |
S285R |
probably damaging |
Het |
Smg1 |
C |
T |
7: 117,783,032 (GRCm39) |
V1092I |
unknown |
Het |
Spata19 |
T |
G |
9: 27,309,024 (GRCm39) |
I54R |
possibly damaging |
Het |
St6galnac5 |
T |
C |
3: 152,551,956 (GRCm39) |
T204A |
probably benign |
Het |
Tdpoz8 |
T |
A |
3: 92,981,341 (GRCm39) |
C46S |
probably benign |
Het |
Trpc3 |
T |
C |
3: 36,694,831 (GRCm39) |
I708V |
probably benign |
Het |
Ttn |
T |
C |
2: 76,775,183 (GRCm39) |
E1999G |
unknown |
Het |
Ube3b |
C |
T |
5: 114,542,607 (GRCm39) |
T488M |
probably damaging |
Het |
Vmn1r235 |
A |
T |
17: 21,482,271 (GRCm39) |
I199F |
probably benign |
Het |
Vsig8 |
A |
T |
1: 172,388,340 (GRCm39) |
N215Y |
possibly damaging |
Het |
Wapl |
A |
G |
14: 34,399,417 (GRCm39) |
K162R |
possibly damaging |
Het |
Wdpcp |
A |
G |
11: 21,614,014 (GRCm39) |
T60A |
probably benign |
Het |
Wdr26 |
A |
T |
1: 181,010,351 (GRCm39) |
I566N |
probably damaging |
Het |
Wdr46 |
C |
T |
17: 34,163,555 (GRCm39) |
T371M |
probably benign |
Het |
Zdbf2 |
T |
C |
1: 63,344,923 (GRCm39) |
S1101P |
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 |
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 |
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'- TCATAAGCTGTCACCTCCAGG -3'
(R):5'- GTCTACAGCTGAAACCTGGC -3'
Sequencing Primer
(F):5'- TGCTGTGCCCTAGAGGACAAG -3'
(R):5'- GAAACCTGGCATCCCTCTG -3'
|
Posted On |
2022-02-07 |