Incidental Mutation 'R7529:Plcb2'
| ID |
583170 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcb2
|
| Ensembl Gene |
ENSMUSG00000040061 |
| Gene Name |
phospholipase C, beta 2 |
| Synonyms |
B230205M18Rik |
| MMRRC Submission |
045601-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7529 (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 118540715 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 1052
(H1052R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124364
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102524]
[ENSMUST00000159756]
|
| AlphaFold |
A3KGF7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102524
AA Change: H1075R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099583
Gene: ENSMUSG00000040061
AA Change: H1075R
| 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 damaging
Transcript: ENSMUST00000159756
AA Change: H1052R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124364
Gene: ENSMUSG00000040061
AA Change: H1052R
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (79/79) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130023H24Rik |
T |
A |
7: 127,836,336 (GRCm39) |
K86* |
probably null |
Het |
| Ablim3 |
A |
C |
18: 61,955,039 (GRCm39) |
S317A |
probably benign |
Het |
| Adcy1 |
T |
C |
11: 7,089,157 (GRCm39) |
S524P |
probably damaging |
Het |
| Agps |
C |
A |
2: 75,662,696 (GRCm39) |
A47E |
possibly damaging |
Het |
| Arhgef15 |
G |
T |
11: 68,844,848 (GRCm39) |
R250S |
probably damaging |
Het |
| Armh1 |
C |
A |
4: 117,070,938 (GRCm39) |
A396S |
probably benign |
Het |
| Atoh8 |
G |
T |
6: 72,200,825 (GRCm39) |
D288E |
probably benign |
Het |
| B3galt2 |
A |
C |
1: 143,522,274 (GRCm39) |
K137Q |
probably benign |
Het |
| Cacna2d4 |
G |
A |
6: 119,247,727 (GRCm39) |
V343I |
probably benign |
Het |
| Cage1 |
T |
C |
13: 38,209,731 (GRCm39) |
N82S |
possibly damaging |
Het |
| Cep350 |
A |
G |
1: 155,737,669 (GRCm39) |
S2725P |
probably benign |
Het |
| Cfap65 |
T |
C |
1: 74,965,769 (GRCm39) |
N414D |
probably damaging |
Het |
| Cgnl1 |
A |
C |
9: 71,539,040 (GRCm39) |
L1154R |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,233,942 (GRCm39) |
M382K |
probably benign |
Het |
| Dchs2 |
G |
A |
3: 83,261,705 (GRCm39) |
V2658M |
possibly damaging |
Het |
| Dlgap5 |
T |
C |
14: 47,653,876 (GRCm39) |
N51S |
probably damaging |
Het |
| Dnah17 |
A |
G |
11: 117,940,692 (GRCm39) |
|
probably null |
Het |
| Dnal1 |
A |
G |
12: 84,178,117 (GRCm39) |
I35V |
probably benign |
Het |
| Dtnbp1 |
A |
G |
13: 45,084,546 (GRCm39) |
F198S |
probably damaging |
Het |
| Edar |
A |
T |
10: 58,447,830 (GRCm39) |
S160T |
probably benign |
Het |
| Enpp3 |
A |
T |
10: 24,674,072 (GRCm39) |
N409K |
probably damaging |
Het |
| Ercc6 |
T |
A |
14: 32,282,686 (GRCm39) |
C726* |
probably null |
Het |
| Extl2 |
G |
A |
3: 115,821,055 (GRCm39) |
V301I |
possibly damaging |
Het |
| G2e3 |
A |
G |
12: 51,418,387 (GRCm39) |
Q594R |
probably damaging |
Het |
| Gal3st2c |
A |
G |
1: 93,937,039 (GRCm39) |
N328S |
probably benign |
Het |
| Galnt17 |
A |
G |
5: 131,335,218 (GRCm39) |
V74A |
probably damaging |
Het |
| Ggta1 |
A |
G |
2: 35,304,256 (GRCm39) |
W76R |
probably damaging |
Het |
| Gm9772 |
T |
A |
17: 22,226,140 (GRCm39) |
D48V |
probably benign |
Het |
| Herpud2 |
T |
C |
9: 25,020,193 (GRCm39) |
T388A |
probably damaging |
Het |
| Ighv5-9-1 |
A |
G |
12: 113,699,954 (GRCm39) |
S53P |
possibly damaging |
Het |
| Il23r |
T |
A |
6: 67,467,720 (GRCm39) |
M16L |
possibly damaging |
Het |
| Ints1 |
G |
A |
5: 139,753,481 (GRCm39) |
A717V |
possibly damaging |
Het |
| Itpr2 |
A |
T |
6: 146,096,096 (GRCm39) |
L2122Q |
probably damaging |
Het |
| Klrg2 |
A |
T |
6: 38,607,266 (GRCm39) |
V248E |
probably damaging |
Het |
| Krtap5-5 |
A |
G |
7: 141,783,429 (GRCm39) |
C74R |
unknown |
Het |
| Luzp1 |
G |
T |
4: 136,268,243 (GRCm39) |
L155F |
probably damaging |
Het |
| Mcam |
T |
C |
9: 44,050,192 (GRCm39) |
V209A |
probably benign |
Het |
| Med1 |
G |
C |
11: 98,046,791 (GRCm39) |
T1335R |
unknown |
Het |
| Mroh2b |
A |
G |
15: 4,978,491 (GRCm39) |
I1346V |
probably damaging |
Het |
| Mrpl4 |
C |
G |
9: 20,918,975 (GRCm39) |
Q201E |
probably benign |
Het |
| Muc21 |
A |
T |
17: 35,930,123 (GRCm39) |
S1354R |
unknown |
Het |
| Mylk2 |
T |
C |
2: 152,757,624 (GRCm39) |
L326P |
probably damaging |
Het |
| Myot |
A |
T |
18: 44,479,240 (GRCm39) |
R326* |
probably null |
Het |
| Nox3 |
T |
A |
17: 3,722,050 (GRCm39) |
R288S |
probably damaging |
Het |
| Nox4 |
A |
T |
7: 87,044,976 (GRCm39) |
Y572F |
unknown |
Het |
| Or2v2 |
A |
G |
11: 49,003,686 (GRCm39) |
L289P |
probably damaging |
Het |
| Or5an10 |
A |
G |
19: 12,276,086 (GRCm39) |
S137P |
probably damaging |
Het |
| Pcdhb15 |
G |
T |
18: 37,607,526 (GRCm39) |
E253* |
probably null |
Het |
| Plpp5 |
A |
T |
8: 26,214,233 (GRCm39) |
Q250L |
probably benign |
Het |
| Plxna2 |
T |
C |
1: 194,326,179 (GRCm39) |
Y38H |
probably benign |
Het |
| Pnpla8 |
A |
G |
12: 44,329,963 (GRCm39) |
K172E |
probably benign |
Het |
| Pramel23 |
T |
C |
4: 143,429,244 (GRCm39) |
|
|
Het |
| Prl8a9 |
T |
A |
13: 27,744,511 (GRCm39) |
D110V |
probably benign |
Het |
| Prrx1 |
T |
C |
1: 163,081,533 (GRCm39) |
|
probably null |
Het |
| Prss52 |
T |
A |
14: 64,347,037 (GRCm39) |
H70Q |
probably benign |
Het |
| Rcc1 |
T |
C |
4: 132,061,874 (GRCm39) |
T300A |
probably benign |
Het |
| Rnf114 |
T |
C |
2: 167,349,014 (GRCm39) |
V64A |
possibly damaging |
Het |
| Rnf168 |
T |
C |
16: 32,117,732 (GRCm39) |
I431T |
probably damaging |
Het |
| Rnmt |
A |
G |
18: 68,444,726 (GRCm39) |
M232V |
probably benign |
Het |
| Rrs1 |
A |
C |
1: 9,616,417 (GRCm39) |
Q223H |
probably benign |
Het |
| Scyl3 |
A |
T |
1: 163,771,438 (GRCm39) |
L261F |
probably damaging |
Het |
| Slc24a4 |
A |
T |
12: 102,230,707 (GRCm39) |
T533S |
probably benign |
Het |
| Slc26a2 |
A |
G |
18: 61,331,430 (GRCm39) |
L667P |
probably damaging |
Het |
| Snrnp40 |
T |
A |
4: 130,278,275 (GRCm39) |
V260D |
possibly damaging |
Het |
| Snrpa |
A |
C |
7: 26,888,878 (GRCm39) |
M174R |
probably benign |
Het |
| Ss18l1 |
C |
T |
2: 179,699,950 (GRCm39) |
A270V |
possibly damaging |
Het |
| Stk19 |
G |
T |
17: 35,043,632 (GRCm39) |
Q193K |
probably benign |
Het |
| Syne1 |
T |
A |
10: 5,374,382 (GRCm39) |
I142L |
probably damaging |
Het |
| Tbx2 |
T |
C |
11: 85,731,727 (GRCm39) |
S675P |
probably benign |
Het |
| Tcaf1 |
A |
G |
6: 42,652,289 (GRCm39) |
I731T |
probably damaging |
Het |
| Tg |
G |
T |
15: 66,566,617 (GRCm39) |
G1222W |
probably damaging |
Het |
| Tsc2 |
A |
G |
17: 24,816,922 (GRCm39) |
F1581L |
probably damaging |
Het |
| Ubr4 |
G |
C |
4: 139,149,728 (GRCm39) |
V520L |
probably benign |
Het |
| Wls |
A |
T |
3: 159,578,644 (GRCm39) |
N69Y |
probably benign |
Het |
| Wnk2 |
A |
G |
13: 49,254,457 (GRCm39) |
F353L |
possibly damaging |
Het |
| Xkr6 |
G |
T |
14: 64,056,610 (GRCm39) |
V430F |
probably benign |
Het |
| Zfp64 |
C |
T |
2: 168,735,992 (GRCm39) |
G562R |
probably benign |
Het |
| Zfp663 |
T |
G |
2: 165,194,728 (GRCm39) |
E497A |
probably damaging |
Het |
| Zfp995 |
A |
T |
17: 22,099,333 (GRCm39) |
C300* |
probably null |
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 |
|
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'- ACTCATGTTTCCCAGGCCAG -3'
(R):5'- AAGTGGACCCAGGACTCTCAATAG -3'
Sequencing Primer
(F):5'- CCACAGGCCAGAACCTTGG -3'
(R):5'- GGACCCAGGACTCTCAATAGTTCTTC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation