Incidental Mutation 'R4772:Plcb2'
| ID |
367584 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcb2
|
| Ensembl Gene |
ENSMUSG00000040061 |
| Gene Name |
phospholipase C, beta 2 |
| Synonyms |
B230205M18Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4772 (G1)
|
| Quality Score |
212 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
118537998-118558919 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 118543615 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 752
(H752L)
|
| 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: H775L
PolyPhen 2
Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000099583
Gene: ENSMUSG00000040061
AA Change: H775L
| 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: ENSMUST00000126907
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127248
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129153
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159756
AA Change: H752L
PolyPhen 2
Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000124364
Gene: ENSMUSG00000040061
AA Change: H752L
| 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: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
| Validation Efficiency |
95% (74/78) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,265,339 (GRCm39) |
|
probably null |
Het |
| Adamts19 |
A |
G |
18: 58,970,848 (GRCm39) |
Q144R |
possibly damaging |
Het |
| Adgrb3 |
C |
A |
1: 25,570,956 (GRCm39) |
C507F |
probably damaging |
Het |
| Atg9b |
T |
C |
5: 24,590,237 (GRCm39) |
*923W |
probably null |
Het |
| Atp13a4 |
T |
C |
16: 29,239,653 (GRCm39) |
|
probably benign |
Het |
| Baz2b |
G |
T |
2: 59,788,795 (GRCm39) |
R697S |
probably damaging |
Het |
| Bicdl1 |
A |
G |
5: 115,799,537 (GRCm39) |
I184T |
probably benign |
Het |
| Bpifb4 |
C |
T |
2: 153,784,903 (GRCm39) |
L204F |
possibly damaging |
Het |
| Cep120 |
C |
T |
18: 53,851,561 (GRCm39) |
R577Q |
probably damaging |
Het |
| Cplx4 |
T |
C |
18: 66,103,048 (GRCm39) |
E24G |
possibly damaging |
Het |
| Dcxr |
T |
C |
11: 120,616,923 (GRCm39) |
T147A |
probably benign |
Het |
| Dnajc10 |
C |
A |
2: 80,170,870 (GRCm39) |
H454N |
probably damaging |
Het |
| Dsp |
G |
T |
13: 38,351,504 (GRCm39) |
G108* |
probably null |
Het |
| Entpd6 |
T |
A |
2: 150,609,014 (GRCm39) |
I366K |
probably damaging |
Het |
| Fam111a |
A |
G |
19: 12,565,057 (GRCm39) |
K269E |
probably benign |
Het |
| Grid2ip |
T |
G |
5: 143,361,455 (GRCm39) |
V222G |
possibly damaging |
Het |
| Hmcn2 |
T |
G |
2: 31,335,326 (GRCm39) |
V4421G |
probably benign |
Het |
| Ifi207 |
T |
C |
1: 173,555,253 (GRCm39) |
T817A |
probably damaging |
Het |
| Irak2 |
A |
T |
6: 113,670,683 (GRCm39) |
E533V |
probably damaging |
Het |
| Katnip |
A |
G |
7: 125,464,523 (GRCm39) |
S1297G |
probably damaging |
Het |
| Kbtbd6 |
T |
C |
14: 79,689,596 (GRCm39) |
F97S |
probably damaging |
Het |
| Kctd14 |
A |
T |
7: 97,106,883 (GRCm39) |
E99V |
probably damaging |
Het |
| Klhl10 |
A |
T |
11: 100,338,557 (GRCm39) |
Y432F |
probably benign |
Het |
| Lrrc49 |
T |
C |
9: 60,592,335 (GRCm39) |
N53S |
possibly damaging |
Het |
| Mief2 |
T |
A |
11: 60,621,288 (GRCm39) |
|
probably benign |
Het |
| Mog |
A |
T |
17: 37,334,049 (GRCm39) |
S15T |
unknown |
Het |
| Mpi |
T |
C |
9: 57,452,181 (GRCm39) |
D365G |
probably damaging |
Het |
| Mpp7 |
A |
G |
18: 7,379,983 (GRCm39) |
|
probably null |
Het |
| Nes |
A |
G |
3: 87,883,486 (GRCm39) |
T582A |
probably benign |
Het |
| Nlrp14 |
A |
G |
7: 106,780,393 (GRCm39) |
D5G |
probably benign |
Het |
| Nr1i3 |
C |
T |
1: 171,044,719 (GRCm39) |
T218I |
probably damaging |
Het |
| Nup43 |
C |
T |
10: 7,554,433 (GRCm39) |
R339* |
probably null |
Het |
| Nup58 |
T |
A |
14: 60,457,471 (GRCm39) |
R577S |
probably benign |
Het |
| Olfr908 |
C |
T |
9: 38,427,897 (GRCm39) |
|
probably benign |
Het |
| Or4l15 |
AAATTTGAA |
AAA |
14: 50,198,452 (GRCm39) |
|
probably benign |
Het |
| Or52n4b |
T |
A |
7: 108,144,092 (GRCm39) |
M120K |
probably damaging |
Het |
| Or5d35 |
T |
A |
2: 87,855,207 (GRCm39) |
I47K |
probably damaging |
Het |
| Or6c38 |
A |
T |
10: 128,929,537 (GRCm39) |
V102D |
possibly damaging |
Het |
| Or9g20 |
G |
A |
2: 85,630,338 (GRCm39) |
S92F |
probably damaging |
Het |
| Orc1 |
T |
C |
4: 108,436,765 (GRCm39) |
|
probably benign |
Het |
| Pax6 |
C |
A |
2: 105,526,847 (GRCm39) |
P251Q |
probably benign |
Het |
| Phactr3 |
C |
T |
2: 177,925,729 (GRCm39) |
R330W |
probably damaging |
Het |
| Phldb1 |
G |
A |
9: 44,622,324 (GRCm39) |
R81W |
probably damaging |
Het |
| Pip5k1c |
C |
T |
10: 81,151,774 (GRCm39) |
P656L |
probably benign |
Het |
| Pkn3 |
T |
G |
2: 29,974,692 (GRCm39) |
|
probably null |
Het |
| Plch1 |
G |
A |
3: 63,660,746 (GRCm39) |
T291M |
probably damaging |
Het |
| Plekhg1 |
A |
T |
10: 3,823,127 (GRCm39) |
M32L |
probably benign |
Het |
| Plekhg1 |
A |
T |
10: 3,823,130 (GRCm39) |
T33S |
probably damaging |
Het |
| Plk4 |
A |
G |
3: 40,759,625 (GRCm39) |
T174A |
probably damaging |
Het |
| Ppip5k2 |
C |
A |
1: 97,648,792 (GRCm39) |
|
probably benign |
Het |
| Prl2a1 |
G |
A |
13: 27,988,961 (GRCm39) |
V29M |
probably benign |
Het |
| R3hcc1l |
T |
C |
19: 42,571,996 (GRCm39) |
|
probably benign |
Het |
| Rasa3 |
C |
T |
8: 13,648,289 (GRCm39) |
G125D |
probably damaging |
Het |
| Sema3f |
A |
T |
9: 107,566,919 (GRCm39) |
Y136* |
probably null |
Het |
| Slc13a5 |
T |
A |
11: 72,141,672 (GRCm39) |
|
probably null |
Het |
| Slc16a1 |
T |
C |
3: 104,560,880 (GRCm39) |
V395A |
possibly damaging |
Het |
| Sparcl1 |
C |
T |
5: 104,236,356 (GRCm39) |
A466T |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,069,690 (GRCm39) |
|
probably benign |
Het |
| Styxl1 |
G |
A |
5: 135,797,755 (GRCm39) |
R50* |
probably null |
Het |
| Tex264 |
T |
A |
9: 106,550,901 (GRCm39) |
I99F |
possibly damaging |
Het |
| Tgtp2 |
T |
C |
11: 48,949,811 (GRCm39) |
T254A |
probably damaging |
Het |
| Tmem245 |
A |
C |
4: 56,937,989 (GRCm39) |
|
probably null |
Het |
| Tnik |
A |
T |
3: 28,661,359 (GRCm39) |
T587S |
probably benign |
Het |
| Tpr |
T |
G |
1: 150,288,864 (GRCm39) |
S648A |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,596,313 (GRCm39) |
E18454G |
probably damaging |
Het |
| Utp20 |
A |
C |
10: 88,645,797 (GRCm39) |
H527Q |
probably benign |
Het |
| Vmn1r1 |
A |
T |
1: 181,985,111 (GRCm39) |
S185T |
probably benign |
Het |
| Vps54 |
C |
T |
11: 21,262,952 (GRCm39) |
H680Y |
probably damaging |
Het |
| Vwa5b2 |
A |
G |
16: 20,419,553 (GRCm39) |
|
probably null |
Het |
| Wscd1 |
T |
C |
11: 71,662,802 (GRCm39) |
|
probably null |
Het |
| Zbtb41 |
C |
T |
1: 139,375,152 (GRCm39) |
P871S |
probably damaging |
Het |
| Zcchc4 |
T |
C |
5: 52,953,549 (GRCm39) |
L186P |
possibly damaging |
Het |
| Zdhhc13 |
A |
G |
7: 48,449,621 (GRCm39) |
Y73C |
probably benign |
Het |
| Zfp12 |
A |
G |
5: 143,225,755 (GRCm39) |
E21G |
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 |
|
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 |
|
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'- CAGTGACTCCAGAAGATCATGGG -3'
(R):5'- TCTCAGCCTGGCACTTAGTG -3'
Sequencing Primer
(F):5'- CTCCAGAAGATCATGGGCATTCTG -3'
(R):5'- AGCCTGGCACTTAGTGAGACTTC -3'
|
| Posted On |
2015-12-29 |
Incidental Mutation