Incidental Mutation 'R8152:Plcb2'
| ID |
632994 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcb2
|
| Ensembl Gene |
ENSMUSG00000040061 |
| Gene Name |
phospholipase C, beta 2 |
| Synonyms |
B230205M18Rik |
| MMRRC Submission |
067578-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8152 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
118537998-118558919 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 118541302 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 1012
(D1012N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124364
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102524]
[ENSMUST00000159756]
|
| AlphaFold |
A3KGF7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102524
AA Change: D1035N
PolyPhen 2
Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000099583
Gene: ENSMUSG00000040061
AA Change: D1035N
| 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 benign
Transcript: ENSMUST00000159756
AA Change: D1012N
PolyPhen 2
Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000124364
Gene: ENSMUSG00000040061
AA Change: D1012N
| 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: 99.8%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 92.4%
|
| Validation Efficiency |
99% (74/75) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
G |
5: 77,044,305 (GRCm39) |
L195P |
probably damaging |
Het |
| Adgrb1 |
T |
C |
15: 74,413,460 (GRCm39) |
V548A |
probably benign |
Het |
| Adgrb1 |
T |
C |
15: 74,416,849 (GRCm39) |
I752T |
probably damaging |
Het |
| Adgrb3 |
T |
C |
1: 25,260,838 (GRCm39) |
|
probably null |
Het |
| Adh6a |
G |
T |
3: 138,033,275 (GRCm39) |
|
probably null |
Het |
| Aldh18a1 |
A |
G |
19: 40,553,456 (GRCm39) |
S431P |
probably benign |
Het |
| Arap3 |
T |
C |
18: 38,124,410 (GRCm39) |
R310G |
possibly damaging |
Het |
| Atad5 |
T |
C |
11: 79,985,996 (GRCm39) |
V361A |
possibly damaging |
Het |
| Atp8a1 |
C |
A |
5: 67,919,925 (GRCm39) |
M380I |
|
Het |
| Calcrl |
C |
T |
2: 84,169,593 (GRCm39) |
V363M |
possibly damaging |
Het |
| Camsap1 |
G |
T |
2: 25,830,253 (GRCm39) |
D490E |
probably damaging |
Het |
| Cd72 |
T |
A |
4: 43,452,601 (GRCm39) |
I131F |
possibly damaging |
Het |
| Cdh2 |
C |
T |
18: 16,762,576 (GRCm39) |
G513D |
probably benign |
Het |
| Cela1 |
T |
C |
15: 100,580,822 (GRCm39) |
T145A |
probably benign |
Het |
| Cep250 |
A |
G |
2: 155,811,227 (GRCm39) |
T358A |
probably benign |
Het |
| Cfap99 |
C |
T |
5: 34,480,735 (GRCm39) |
R462C |
probably damaging |
Het |
| Cmtm1 |
A |
G |
8: 105,036,573 (GRCm39) |
S19P |
possibly damaging |
Het |
| Crebbp |
A |
T |
16: 3,902,945 (GRCm39) |
M2098K |
possibly damaging |
Het |
| Csmd3 |
T |
C |
15: 47,532,860 (GRCm39) |
|
probably null |
Het |
| Ctsm |
C |
G |
13: 61,687,463 (GRCm39) |
V100L |
probably benign |
Het |
| Cyp2c67 |
C |
A |
19: 39,628,452 (GRCm39) |
C164F |
probably benign |
Het |
| Cyp2d11 |
T |
C |
15: 82,276,688 (GRCm39) |
I84V |
probably benign |
Het |
| Cyp2j11 |
T |
C |
4: 96,195,529 (GRCm39) |
D389G |
probably damaging |
Het |
| Dctd |
A |
G |
8: 48,564,725 (GRCm39) |
D9G |
probably benign |
Het |
| Fam221a |
C |
A |
6: 49,355,490 (GRCm39) |
F197L |
probably damaging |
Het |
| Fbxl4 |
T |
G |
4: 22,427,225 (GRCm39) |
C489G |
possibly damaging |
Het |
| Fmn1 |
C |
T |
2: 113,196,037 (GRCm39) |
T579M |
unknown |
Het |
| Fndc3a |
G |
A |
14: 72,811,820 (GRCm39) |
L337F |
probably damaging |
Het |
| Frmpd2 |
A |
G |
14: 33,265,244 (GRCm39) |
|
probably null |
Het |
| Gdnf |
C |
T |
15: 7,864,243 (GRCm39) |
S218L |
probably damaging |
Het |
| Gen1 |
A |
G |
12: 11,293,266 (GRCm39) |
F444L |
probably damaging |
Het |
| Gk5 |
A |
T |
9: 96,056,756 (GRCm39) |
D391V |
probably damaging |
Het |
| Gys2 |
T |
C |
6: 142,373,136 (GRCm39) |
T612A |
probably benign |
Het |
| Il17ra |
A |
G |
6: 120,459,063 (GRCm39) |
D738G |
probably benign |
Het |
| Isx |
T |
C |
8: 75,616,627 (GRCm39) |
F85L |
probably damaging |
Het |
| Kcnh5 |
T |
C |
12: 74,944,633 (GRCm39) |
D872G |
possibly damaging |
Het |
| Kif26b |
T |
G |
1: 178,506,794 (GRCm39) |
V290G |
possibly damaging |
Het |
| Ksr2 |
T |
C |
5: 117,809,523 (GRCm39) |
C429R |
probably damaging |
Het |
| Loxhd1 |
A |
C |
18: 77,476,095 (GRCm39) |
I1121L |
possibly damaging |
Het |
| Map2 |
T |
C |
1: 66,453,902 (GRCm39) |
F931L |
probably benign |
Het |
| Mepce |
T |
C |
5: 137,782,935 (GRCm39) |
I464V |
probably benign |
Het |
| Mpo |
G |
T |
11: 87,692,475 (GRCm39) |
V538L |
probably benign |
Het |
| Mtarc2 |
T |
A |
1: 184,573,509 (GRCm39) |
M130L |
possibly damaging |
Het |
| Mtrex |
T |
A |
13: 113,009,517 (GRCm39) |
K961* |
probably null |
Het |
| Myom1 |
T |
C |
17: 71,391,290 (GRCm39) |
V933A |
probably damaging |
Het |
| Nckap1l |
T |
G |
15: 103,386,957 (GRCm39) |
|
probably null |
Het |
| Ncmap |
C |
A |
4: 135,104,375 (GRCm39) |
M19I |
possibly damaging |
Het |
| Neb |
T |
A |
2: 52,073,848 (GRCm39) |
I5920F |
probably benign |
Het |
| Nnt |
C |
T |
13: 119,511,212 (GRCm39) |
V355I |
probably benign |
Het |
| Nr1i2 |
C |
T |
16: 38,073,326 (GRCm39) |
G217S |
probably damaging |
Het |
| Nsd1 |
A |
G |
13: 55,458,180 (GRCm39) |
R2098G |
possibly damaging |
Het |
| Parp4 |
A |
G |
14: 56,884,703 (GRCm39) |
T1261A |
probably benign |
Het |
| Pcgf3 |
A |
T |
5: 108,635,723 (GRCm39) |
N131I |
probably benign |
Het |
| Plcl2 |
T |
C |
17: 50,914,689 (GRCm39) |
I566T |
probably damaging |
Het |
| Plekha1 |
G |
A |
7: 130,510,102 (GRCm39) |
A283T |
probably damaging |
Het |
| Prag1 |
A |
T |
8: 36,567,079 (GRCm39) |
M77L |
possibly damaging |
Het |
| Rhbdl2 |
A |
T |
4: 123,718,711 (GRCm39) |
I222L |
probably benign |
Het |
| Rnh1 |
A |
C |
7: 140,740,617 (GRCm39) |
V446G |
probably damaging |
Het |
| Sash1 |
C |
T |
10: 8,626,805 (GRCm39) |
R193H |
possibly damaging |
Het |
| Sgf29 |
G |
T |
7: 126,271,826 (GRCm39) |
V284L |
possibly damaging |
Het |
| Slc12a3 |
G |
A |
8: 95,057,012 (GRCm39) |
G95D |
probably benign |
Het |
| Slc17a7 |
T |
C |
7: 44,819,714 (GRCm39) |
V172A |
probably damaging |
Het |
| Spta1 |
T |
C |
1: 174,045,510 (GRCm39) |
V1556A |
probably benign |
Het |
| Tex15 |
G |
A |
8: 34,062,921 (GRCm39) |
E784K |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,673,132 (GRCm39) |
E11224G |
unknown |
Het |
| Wipf1 |
G |
A |
2: 73,267,879 (GRCm39) |
P173L |
possibly damaging |
Het |
| Zdbf2 |
C |
T |
1: 63,345,572 (GRCm39) |
T1317I |
possibly damaging |
Het |
| Zfat |
C |
T |
15: 67,973,355 (GRCm39) |
A1147T |
probably benign |
Het |
| Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly damaging |
Het |
| Zhx3 |
T |
G |
2: 160,622,695 (GRCm39) |
I491L |
probably benign |
Het |
| Zranb3 |
T |
C |
1: 127,882,732 (GRCm39) |
D1061G |
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 |
|
R7610:Plcb2
|
UTSW |
2 |
118,550,240 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7760:Plcb2
|
UTSW |
2 |
118,541,869 (GRCm39) |
missense |
probably benign |
|
|
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'- ATAGAACTAACTTGTGAAGGGCC -3'
(R):5'- CGCAGCAAATCGCCAAGATG -3'
Sequencing Primer
(F):5'- TCTATGGGAATCAAGTTAGGAGCCC -3'
(R):5'- TCGCCAAGATGATGGAGCTG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation