Incidental Mutation 'R0893:Plcb2'
ID |
83564 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plcb2
|
Ensembl Gene |
ENSMUSG00000040061 |
Gene Name |
phospholipase C, beta 2 |
Synonyms |
B230205M18Rik |
MMRRC Submission |
039056-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0893 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
118537998-118558919 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 118555586 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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
|
SMART Domains |
Protein: ENSMUSP00000099583 Gene: ENSMUSG00000040061
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
|
SMART Domains |
Protein: ENSMUSP00000124364 Gene: ENSMUSG00000040061
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: 99.4%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 95.1%
|
Validation Efficiency |
99% (77/78) |
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
T |
A |
12: 71,266,082 (GRCm39) |
|
probably benign |
Het |
Adnp |
A |
T |
2: 168,025,647 (GRCm39) |
F549L |
possibly damaging |
Het |
Agl |
A |
G |
3: 116,546,935 (GRCm39) |
I1305T |
probably benign |
Het |
Aldh8a1 |
T |
A |
10: 21,267,593 (GRCm39) |
M326K |
probably benign |
Het |
Amdhd1 |
A |
T |
10: 93,363,513 (GRCm39) |
M295K |
probably damaging |
Het |
Arhgef4 |
T |
A |
1: 34,846,191 (GRCm39) |
C324S |
probably damaging |
Het |
Car8 |
A |
T |
4: 8,238,119 (GRCm39) |
|
probably null |
Het |
Cc2d1a |
T |
C |
8: 84,867,468 (GRCm39) |
|
probably benign |
Het |
Cd81 |
G |
A |
7: 142,616,242 (GRCm39) |
V27M |
possibly damaging |
Het |
Ces1b |
A |
T |
8: 93,806,056 (GRCm39) |
S62T |
probably benign |
Het |
Cfb |
A |
G |
17: 35,077,031 (GRCm39) |
S30P |
probably damaging |
Het |
Cmtm3 |
A |
G |
8: 105,070,543 (GRCm39) |
M101V |
possibly damaging |
Het |
Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
Ddb1 |
C |
T |
19: 10,590,280 (GRCm39) |
S269L |
probably benign |
Het |
Ddx25 |
G |
A |
9: 35,465,686 (GRCm39) |
Q143* |
probably null |
Het |
Dis3l2 |
T |
A |
1: 86,971,928 (GRCm39) |
|
probably null |
Het |
Dlgap4 |
G |
T |
2: 156,587,898 (GRCm39) |
E598* |
probably null |
Het |
Dus1l |
C |
T |
11: 120,680,262 (GRCm39) |
G471D |
possibly damaging |
Het |
Elp4 |
C |
A |
2: 105,727,290 (GRCm39) |
|
probably benign |
Het |
Eya3 |
A |
G |
4: 132,417,097 (GRCm39) |
N194S |
probably benign |
Het |
Golgb1 |
G |
T |
16: 36,732,639 (GRCm39) |
V629L |
possibly damaging |
Het |
Hars2 |
G |
A |
18: 36,920,648 (GRCm39) |
A164T |
possibly damaging |
Het |
Hexb |
T |
A |
13: 97,322,135 (GRCm39) |
I217L |
probably benign |
Het |
Hgh1 |
A |
G |
15: 76,253,848 (GRCm39) |
|
probably null |
Het |
Hsd3b3 |
A |
T |
3: 98,649,757 (GRCm39) |
|
probably null |
Het |
Ighg2c |
T |
A |
12: 113,251,053 (GRCm39) |
N321Y |
unknown |
Het |
Il5 |
A |
G |
11: 53,611,763 (GRCm39) |
T34A |
probably benign |
Het |
Jph1 |
C |
A |
1: 17,074,507 (GRCm39) |
E504* |
probably null |
Het |
Kif2b |
G |
T |
11: 91,466,420 (GRCm39) |
T621K |
probably benign |
Het |
Kmt2c |
A |
T |
5: 25,556,268 (GRCm39) |
|
probably benign |
Het |
Leprotl1 |
A |
G |
8: 34,606,006 (GRCm39) |
|
probably null |
Het |
Lpar3 |
C |
T |
3: 145,946,348 (GRCm39) |
R9C |
possibly damaging |
Het |
Map1a |
A |
G |
2: 121,131,014 (GRCm39) |
E372G |
probably damaging |
Het |
Map2 |
C |
A |
1: 66,419,927 (GRCm39) |
T86K |
probably damaging |
Het |
Map7 |
A |
G |
10: 20,149,629 (GRCm39) |
|
probably null |
Het |
Mdn1 |
T |
C |
4: 32,701,713 (GRCm39) |
V1482A |
probably benign |
Het |
Mks1 |
G |
A |
11: 87,747,777 (GRCm39) |
|
probably benign |
Het |
Morf4l1 |
T |
G |
9: 89,984,403 (GRCm39) |
K102N |
probably damaging |
Het |
Mroh1 |
T |
A |
15: 76,293,138 (GRCm39) |
V304D |
possibly damaging |
Het |
Mtg1 |
G |
A |
7: 139,729,665 (GRCm39) |
V252M |
probably damaging |
Het |
Myh13 |
A |
T |
11: 67,225,427 (GRCm39) |
D264V |
probably damaging |
Het |
Myh2 |
A |
G |
11: 67,077,334 (GRCm39) |
Y823C |
possibly damaging |
Het |
Myoz1 |
A |
T |
14: 20,701,252 (GRCm39) |
S112R |
probably benign |
Het |
Ncapd2 |
A |
G |
6: 125,150,445 (GRCm39) |
V860A |
probably benign |
Het |
Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
Npffr1 |
T |
C |
10: 61,450,010 (GRCm39) |
F95L |
possibly damaging |
Het |
Or51f1e |
G |
T |
7: 102,747,641 (GRCm39) |
R231L |
probably benign |
Het |
Or8b9 |
T |
C |
9: 37,766,492 (GRCm39) |
I126T |
probably damaging |
Het |
Orc4 |
A |
C |
2: 48,822,622 (GRCm39) |
|
probably benign |
Het |
P3h3 |
A |
C |
6: 124,822,476 (GRCm39) |
I565R |
probably damaging |
Het |
Pak4 |
T |
C |
7: 28,259,202 (GRCm39) |
D552G |
probably benign |
Het |
Pcdhb4 |
G |
T |
18: 37,442,423 (GRCm39) |
|
probably null |
Het |
Pdcd4 |
G |
T |
19: 53,917,525 (GRCm39) |
R454L |
probably damaging |
Het |
Phf8-ps |
T |
C |
17: 33,284,263 (GRCm39) |
I846M |
probably benign |
Het |
Pkd1l2 |
A |
G |
8: 117,771,231 (GRCm39) |
I1116T |
probably damaging |
Het |
Pmpca |
T |
C |
2: 26,283,230 (GRCm39) |
|
probably benign |
Het |
Pnpla7 |
T |
A |
2: 24,887,252 (GRCm39) |
I32N |
probably damaging |
Het |
Prpf8 |
A |
G |
11: 75,384,775 (GRCm39) |
K718E |
probably damaging |
Het |
Racgap1 |
C |
T |
15: 99,524,411 (GRCm39) |
A359T |
probably benign |
Het |
Rgs3 |
G |
A |
4: 62,523,798 (GRCm39) |
|
probably null |
Het |
Rhpn1 |
A |
G |
15: 75,583,503 (GRCm39) |
E356G |
probably damaging |
Het |
Rps6ka5 |
T |
C |
12: 100,540,697 (GRCm39) |
H488R |
possibly damaging |
Het |
Scn11a |
A |
G |
9: 119,632,396 (GRCm39) |
|
probably null |
Het |
Sema4f |
A |
T |
6: 82,912,948 (GRCm39) |
|
probably benign |
Het |
Serpina1f |
A |
G |
12: 103,660,094 (GRCm39) |
S63P |
probably damaging |
Het |
Slc9a3 |
T |
C |
13: 74,307,365 (GRCm39) |
W386R |
probably damaging |
Het |
Slc9b1 |
A |
C |
3: 135,100,651 (GRCm39) |
L465F |
probably benign |
Het |
Smc5 |
A |
G |
19: 23,241,017 (GRCm39) |
V165A |
possibly damaging |
Het |
Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
Tinagl1 |
G |
T |
4: 130,067,816 (GRCm39) |
D59E |
probably damaging |
Het |
Tns3 |
A |
G |
11: 8,443,302 (GRCm39) |
Y354H |
probably damaging |
Het |
Trappc9 |
C |
T |
15: 72,461,956 (GRCm39) |
G1103D |
probably damaging |
Het |
Unc79 |
A |
T |
12: 102,957,687 (GRCm39) |
D34V |
probably damaging |
Het |
Unc80 |
T |
C |
1: 66,560,645 (GRCm39) |
L791P |
probably damaging |
Het |
Unc93a2 |
A |
G |
17: 7,641,926 (GRCm39) |
L174P |
probably damaging |
Het |
Xpo7 |
G |
T |
14: 70,903,537 (GRCm39) |
|
probably benign |
Het |
Zbtb1 |
T |
A |
12: 76,432,113 (GRCm39) |
I33N |
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 |
|
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 |
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'- TCCTATACCACCAGGGTTCTAGCG -3'
(R):5'- TCGGGGCACACTTTCCAAGATG -3'
Sequencing Primer
(F):5'- TCATTGGATCCCTTGGAGCT -3'
(R):5'- CTTTCCAAGATGGCAGCAAG -3'
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Posted On |
2013-11-08 |