Incidental Mutation 'R5055:Plcb2'
| ID |
390750 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcb2
|
| Ensembl Gene |
ENSMUSG00000040061 |
| Gene Name |
phospholipase C, beta 2 |
| Synonyms |
B230205M18Rik |
| MMRRC Submission |
042645-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5055 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
118537998-118558919 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 118548703 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 408
(T408S)
|
| 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: T431S
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000099583
Gene: ENSMUSG00000040061
AA Change: T431S
| 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 |
probably benign
Transcript: ENSMUST00000159756
AA Change: T408S
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000124364
Gene: ENSMUSG00000040061
AA Change: T408S
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.9%
|
| Validation Efficiency |
98% (84/86) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam19 |
G |
A |
11: 46,013,996 (GRCm39) |
V329I |
probably damaging |
Het |
| Adgrl3 |
C |
A |
5: 81,794,398 (GRCm39) |
A541E |
possibly damaging |
Het |
| Agbl1 |
A |
T |
7: 76,063,325 (GRCm39) |
I263F |
probably damaging |
Het |
| Ash1l |
T |
C |
3: 88,930,519 (GRCm39) |
|
probably null |
Het |
| Bccip |
A |
G |
7: 133,316,652 (GRCm39) |
T91A |
probably benign |
Het |
| Bnc1 |
A |
T |
7: 81,624,163 (GRCm39) |
F355I |
probably damaging |
Het |
| Bpifa2 |
A |
T |
2: 153,855,630 (GRCm39) |
D185V |
probably damaging |
Het |
| Capn8 |
T |
A |
1: 182,399,526 (GRCm39) |
V89D |
probably damaging |
Het |
| Cfap46 |
A |
T |
7: 139,241,106 (GRCm39) |
M421K |
probably damaging |
Het |
| Chd2 |
A |
T |
7: 73,130,256 (GRCm39) |
L800M |
probably damaging |
Het |
| Chd4 |
A |
G |
6: 125,077,949 (GRCm39) |
D137G |
possibly damaging |
Het |
| Crtap |
A |
G |
9: 114,219,208 (GRCm39) |
Y154H |
probably benign |
Het |
| Ctdp1 |
T |
A |
18: 80,499,303 (GRCm39) |
Q213L |
probably damaging |
Het |
| Cts6 |
T |
C |
13: 61,344,164 (GRCm39) |
Y296C |
probably damaging |
Het |
| Daxx |
G |
T |
17: 34,131,134 (GRCm39) |
V354F |
probably benign |
Het |
| Dnah2 |
A |
G |
11: 69,411,599 (GRCm39) |
I341T |
possibly damaging |
Het |
| Epha2 |
A |
G |
4: 141,036,380 (GRCm39) |
D272G |
probably benign |
Het |
| Etfa |
A |
G |
9: 55,407,417 (GRCm39) |
V24A |
probably damaging |
Het |
| Fbxl7 |
C |
A |
15: 26,553,022 (GRCm39) |
G82W |
probably damaging |
Het |
| Fcamr |
G |
A |
1: 130,739,174 (GRCm39) |
C158Y |
probably damaging |
Het |
| Fyb1 |
A |
C |
15: 6,614,630 (GRCm39) |
|
probably benign |
Het |
| Gars1 |
G |
A |
6: 55,045,077 (GRCm39) |
R454H |
probably damaging |
Het |
| Ghsr |
T |
C |
3: 27,426,421 (GRCm39) |
V159A |
probably benign |
Het |
| Glp1r |
A |
T |
17: 31,137,861 (GRCm39) |
Q97H |
probably benign |
Het |
| Gm27047 |
T |
C |
6: 130,606,909 (GRCm39) |
|
noncoding transcript |
Het |
| Igkv3-3 |
A |
C |
6: 70,664,223 (GRCm39) |
I22L |
probably benign |
Het |
| Inpp5b |
G |
T |
4: 124,636,824 (GRCm39) |
|
probably null |
Het |
| Ipo9 |
C |
A |
1: 135,330,097 (GRCm39) |
E448* |
probably null |
Het |
| Itgb2l |
A |
T |
16: 96,229,003 (GRCm39) |
I400N |
probably damaging |
Het |
| Kat6b |
T |
A |
14: 21,567,062 (GRCm39) |
H40Q |
probably damaging |
Het |
| Kcna7 |
G |
A |
7: 45,056,015 (GRCm39) |
R77H |
probably damaging |
Het |
| Kcnq2 |
G |
T |
2: 180,728,554 (GRCm39) |
|
probably benign |
Het |
| Klf7 |
T |
C |
1: 64,118,439 (GRCm39) |
T53A |
probably benign |
Het |
| Kmt2a |
A |
G |
9: 44,729,649 (GRCm39) |
|
probably benign |
Het |
| Lrp10 |
C |
T |
14: 54,705,802 (GRCm39) |
R331C |
probably benign |
Het |
| Map4k5 |
A |
T |
12: 69,878,332 (GRCm39) |
D289E |
probably benign |
Het |
| Mfsd4b2 |
A |
T |
10: 39,799,773 (GRCm39) |
M43K |
possibly damaging |
Het |
| Msr1 |
T |
G |
8: 40,076,997 (GRCm39) |
R138S |
possibly damaging |
Het |
| Myh7b |
G |
C |
2: 155,474,293 (GRCm39) |
R1669S |
possibly damaging |
Het |
| Myh9 |
G |
A |
15: 77,648,723 (GRCm39) |
A1711V |
probably benign |
Het |
| Myo18b |
A |
G |
5: 113,023,083 (GRCm39) |
|
probably benign |
Het |
| Nampt |
A |
T |
12: 32,883,120 (GRCm39) |
N102Y |
possibly damaging |
Het |
| Nell2 |
T |
C |
15: 95,371,460 (GRCm39) |
I92V |
probably benign |
Het |
| Nes |
A |
G |
3: 87,884,521 (GRCm39) |
N883D |
probably benign |
Het |
| Neurl3 |
T |
A |
1: 36,312,463 (GRCm39) |
|
probably benign |
Het |
| Ocln |
T |
A |
13: 100,675,930 (GRCm39) |
T188S |
probably benign |
Het |
| Or2ag20 |
T |
A |
7: 106,464,937 (GRCm39) |
M250K |
probably damaging |
Het |
| Or5m10 |
T |
C |
2: 85,717,585 (GRCm39) |
F147S |
probably benign |
Het |
| Parp14 |
T |
A |
16: 35,664,733 (GRCm39) |
Q1305L |
probably benign |
Het |
| Pde3a |
C |
T |
6: 141,433,682 (GRCm39) |
Q855* |
probably null |
Het |
| Pde4b |
T |
C |
4: 102,052,311 (GRCm39) |
|
probably benign |
Het |
| Pdk2 |
T |
C |
11: 94,930,242 (GRCm39) |
M65V |
probably benign |
Het |
| Phf21a |
T |
C |
2: 92,182,201 (GRCm39) |
S377P |
probably damaging |
Het |
| Ppp1r12b |
G |
T |
1: 134,883,471 (GRCm39) |
A17E |
probably benign |
Het |
| Ppp6r2 |
A |
G |
15: 89,167,152 (GRCm39) |
D789G |
probably benign |
Het |
| Prdm16 |
T |
C |
4: 154,419,719 (GRCm39) |
M897V |
possibly damaging |
Het |
| Prss57 |
A |
G |
10: 79,620,178 (GRCm39) |
|
probably null |
Het |
| Psd |
G |
T |
19: 46,310,907 (GRCm39) |
L381I |
probably benign |
Het |
| Ptprq |
A |
T |
10: 107,370,540 (GRCm39) |
D2050E |
probably benign |
Het |
| Rfc1 |
G |
T |
5: 65,423,505 (GRCm39) |
N1034K |
probably damaging |
Het |
| Ryr3 |
C |
T |
2: 112,661,504 (GRCm39) |
G1829S |
probably benign |
Het |
| Scaper |
T |
C |
9: 55,767,003 (GRCm39) |
|
probably null |
Het |
| Scn5a |
A |
G |
9: 119,351,632 (GRCm39) |
I783T |
probably damaging |
Het |
| Slc28a1 |
A |
G |
7: 80,818,796 (GRCm39) |
N583S |
possibly damaging |
Het |
| Slc35e3 |
C |
T |
10: 117,580,884 (GRCm39) |
G140D |
probably damaging |
Het |
| Slc6a9 |
G |
A |
4: 117,725,347 (GRCm39) |
|
probably null |
Het |
| Sptlc1 |
A |
G |
13: 53,496,218 (GRCm39) |
S376P |
probably benign |
Het |
| Sspo |
G |
A |
6: 48,441,729 (GRCm39) |
C1913Y |
probably damaging |
Het |
| Taar7b |
A |
T |
10: 23,876,845 (GRCm39) |
I337F |
possibly damaging |
Het |
| Tdpoz2 |
T |
A |
3: 93,559,235 (GRCm39) |
I246F |
probably damaging |
Het |
| Trpa1 |
C |
T |
1: 14,946,183 (GRCm39) |
V983M |
probably damaging |
Het |
| Trpm5 |
A |
T |
7: 142,626,521 (GRCm39) |
M1112K |
probably benign |
Het |
| Tsbp1 |
G |
A |
17: 34,667,770 (GRCm39) |
C154Y |
possibly damaging |
Het |
| Uso1 |
A |
T |
5: 92,340,594 (GRCm39) |
K670I |
probably benign |
Het |
| Washc4 |
A |
G |
10: 83,392,771 (GRCm39) |
D257G |
probably damaging |
Het |
| Wdr41 |
T |
A |
13: 95,151,725 (GRCm39) |
|
probably null |
Het |
| Zbtb17 |
A |
G |
4: 141,193,860 (GRCm39) |
Q668R |
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 |
|
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'- GGACAGCACTTGTGACATTTGG -3'
(R):5'- ATACTGTCCCTGGCCTCTAG -3'
Sequencing Primer
(F):5'- GCAGTAGCCTCTCAAATGTAAGTGC -3'
(R):5'- AGGCATCCATTTAGTCTCCTTCGG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation