Incidental Mutation 'R1686:Plcb2'
ID |
189311 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plcb2
|
Ensembl Gene |
ENSMUSG00000040061 |
Gene Name |
phospholipase C, beta 2 |
Synonyms |
B230205M18Rik |
MMRRC Submission |
039719-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1686 (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 118546168 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 |
noncoding transcript
Transcript: ENSMUST00000127248
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129153
|
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: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.9%
|
Validation Efficiency |
100% (85/85) |
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 |
1700017N19Rik |
G |
A |
10: 100,448,722 (GRCm39) |
V400I |
probably damaging |
Het |
Abcb1b |
A |
G |
5: 8,848,782 (GRCm39) |
N14S |
probably damaging |
Het |
Adamts14 |
A |
G |
10: 61,034,439 (GRCm39) |
Y1150H |
probably benign |
Het |
Adgrg3 |
A |
G |
8: 95,759,997 (GRCm39) |
N72S |
probably benign |
Het |
Akain1 |
T |
A |
17: 69,746,527 (GRCm39) |
F3I |
possibly damaging |
Het |
Akr1c21 |
T |
C |
13: 4,627,452 (GRCm39) |
L182P |
probably damaging |
Het |
Arhgap21 |
A |
T |
2: 20,886,659 (GRCm39) |
Y12N |
probably damaging |
Het |
Aup1 |
A |
T |
6: 83,032,226 (GRCm39) |
H131L |
probably damaging |
Het |
Bag6 |
A |
G |
17: 35,363,928 (GRCm39) |
T812A |
possibly damaging |
Het |
Bmp2k |
A |
G |
5: 97,211,392 (GRCm39) |
Y520C |
unknown |
Het |
Calm4 |
T |
G |
13: 3,888,302 (GRCm39) |
V136G |
probably damaging |
Het |
Catsper2 |
A |
G |
2: 121,230,523 (GRCm39) |
|
probably null |
Het |
Cc2d2a |
A |
G |
5: 43,896,713 (GRCm39) |
T1537A |
possibly damaging |
Het |
Cntn2 |
A |
T |
1: 132,454,049 (GRCm39) |
V319D |
possibly damaging |
Het |
Cux1 |
G |
A |
5: 136,304,235 (GRCm39) |
R1314* |
probably null |
Het |
Cxcl12 |
A |
G |
6: 117,150,508 (GRCm39) |
I79V |
probably damaging |
Het |
Cyp2j6 |
T |
C |
4: 96,412,014 (GRCm39) |
D418G |
probably benign |
Het |
Ddx28 |
G |
C |
8: 106,737,190 (GRCm39) |
D289E |
probably damaging |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fam135a |
A |
C |
1: 24,068,887 (GRCm39) |
S448A |
probably benign |
Het |
Fbxo33 |
G |
T |
12: 59,251,626 (GRCm39) |
N30K |
possibly damaging |
Het |
Fgf12 |
A |
C |
16: 28,217,093 (GRCm39) |
Y21D |
probably damaging |
Het |
Galntl5 |
C |
T |
5: 25,415,432 (GRCm39) |
S288L |
probably benign |
Het |
Gart |
G |
T |
16: 91,422,237 (GRCm39) |
A760D |
probably damaging |
Het |
Gba2 |
A |
T |
4: 43,573,869 (GRCm39) |
|
probably benign |
Het |
Gm10518 |
C |
A |
1: 179,631,357 (GRCm39) |
S139* |
probably null |
Het |
Gm4781 |
A |
T |
10: 100,232,837 (GRCm39) |
|
noncoding transcript |
Het |
Gm9790 |
A |
G |
3: 85,823,156 (GRCm39) |
|
noncoding transcript |
Het |
Gmps |
G |
A |
3: 63,893,075 (GRCm39) |
G127R |
probably damaging |
Het |
Golim4 |
A |
T |
3: 75,802,443 (GRCm39) |
V283E |
probably benign |
Het |
Gprc5a |
A |
T |
6: 135,055,918 (GRCm39) |
I122F |
possibly damaging |
Het |
Gzmc |
T |
C |
14: 56,471,341 (GRCm39) |
K67E |
probably benign |
Het |
Hapln3 |
C |
A |
7: 78,771,638 (GRCm39) |
V84L |
probably benign |
Het |
Hif3a |
T |
A |
7: 16,778,789 (GRCm39) |
N377Y |
possibly damaging |
Het |
Ifi211 |
G |
A |
1: 173,726,969 (GRCm39) |
H392Y |
probably damaging |
Het |
Iqgap3 |
T |
A |
3: 88,015,663 (GRCm39) |
|
probably benign |
Het |
Itga10 |
T |
A |
3: 96,559,141 (GRCm39) |
F410Y |
probably damaging |
Het |
Jup |
T |
C |
11: 100,263,260 (GRCm39) |
Y705C |
probably damaging |
Het |
Khsrp |
C |
T |
17: 57,332,597 (GRCm39) |
A228T |
probably benign |
Het |
Lmntd2 |
C |
T |
7: 140,790,998 (GRCm39) |
G445D |
probably damaging |
Het |
Lyst |
T |
C |
13: 13,809,290 (GRCm39) |
V320A |
possibly damaging |
Het |
Magel2 |
T |
A |
7: 62,027,988 (GRCm39) |
H297Q |
possibly damaging |
Het |
Mbd6 |
T |
C |
10: 127,123,286 (GRCm39) |
E33G |
probably damaging |
Het |
Mob3b |
A |
G |
4: 34,985,910 (GRCm39) |
|
probably benign |
Het |
Mroh2a |
T |
C |
1: 88,162,334 (GRCm39) |
|
probably null |
Het |
Mroh2a |
C |
T |
1: 88,158,402 (GRCm39) |
R150* |
probably null |
Het |
Mymk |
A |
T |
2: 26,952,346 (GRCm39) |
W174R |
probably damaging |
Het |
Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
Nipal3 |
T |
C |
4: 135,174,599 (GRCm39) |
Y384C |
possibly damaging |
Het |
Nt5c3b |
A |
G |
11: 100,330,920 (GRCm39) |
|
probably benign |
Het |
Obox6 |
T |
A |
7: 15,567,750 (GRCm39) |
L232F |
probably damaging |
Het |
Obscn |
A |
C |
11: 58,997,113 (GRCm39) |
|
probably benign |
Het |
Or7g12 |
T |
C |
9: 18,899,839 (GRCm39) |
L185P |
probably damaging |
Het |
Phkb |
A |
G |
8: 86,748,278 (GRCm39) |
I706V |
probably benign |
Het |
Plek2 |
T |
C |
12: 78,941,184 (GRCm39) |
D216G |
probably damaging |
Het |
Plxnb2 |
T |
C |
15: 89,046,665 (GRCm39) |
Y855C |
probably damaging |
Het |
Prkcz |
T |
C |
4: 155,355,713 (GRCm39) |
T227A |
probably damaging |
Het |
Psma7 |
A |
T |
2: 179,679,215 (GRCm39) |
D184E |
probably benign |
Het |
Rai14 |
T |
A |
15: 10,592,282 (GRCm39) |
L204F |
probably damaging |
Het |
Ralgapa2 |
A |
G |
2: 146,199,920 (GRCm39) |
V1208A |
probably benign |
Het |
Rapgef6 |
A |
G |
11: 54,582,458 (GRCm39) |
R67G |
possibly damaging |
Het |
Ryr2 |
C |
T |
13: 11,618,665 (GRCm39) |
|
probably benign |
Het |
Satb1 |
T |
C |
17: 52,047,027 (GRCm39) |
S763G |
probably benign |
Het |
Sdk1 |
A |
T |
5: 142,020,292 (GRCm39) |
H690L |
probably benign |
Het |
Sfrp5 |
A |
C |
19: 42,190,143 (GRCm39) |
V103G |
possibly damaging |
Het |
Six6 |
A |
G |
12: 72,988,451 (GRCm39) |
E208G |
probably benign |
Het |
Sspo |
A |
T |
6: 48,437,334 (GRCm39) |
H1364L |
probably benign |
Het |
Stard9 |
A |
T |
2: 120,529,973 (GRCm39) |
T2077S |
probably benign |
Het |
Tacr3 |
T |
C |
3: 134,535,254 (GRCm39) |
L74P |
probably damaging |
Het |
Tep1 |
T |
C |
14: 51,074,245 (GRCm39) |
E1880G |
probably benign |
Het |
Tgfb3 |
A |
T |
12: 86,116,517 (GRCm39) |
|
probably benign |
Het |
Thap7 |
G |
A |
16: 17,346,576 (GRCm39) |
P136S |
probably damaging |
Het |
Thoc2l |
T |
A |
5: 104,667,789 (GRCm39) |
Y770* |
probably null |
Het |
Tmc2 |
T |
C |
2: 130,098,036 (GRCm39) |
V717A |
possibly damaging |
Het |
Usp43 |
T |
A |
11: 67,778,593 (GRCm39) |
S446C |
probably damaging |
Het |
Vwa3a |
C |
T |
7: 120,379,371 (GRCm39) |
S492L |
probably damaging |
Het |
Wdhd1 |
T |
A |
14: 47,493,672 (GRCm39) |
N16I |
probably damaging |
Het |
Wdr95 |
A |
T |
5: 149,516,566 (GRCm39) |
D327V |
probably damaging |
Het |
Zfp128 |
T |
G |
7: 12,624,563 (GRCm39) |
Y310* |
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 |
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'- GGCAACCATCTGACATCCAGCATTC -3'
(R):5'- GGCACACATTCCTCTCAAATCTGGC -3'
Sequencing Primer
(F):5'- CATGTAGTTGGAAGAGTCCATGC -3'
(R):5'- AAATCTGGCTGCTACTAGGC -3'
|
Posted On |
2014-05-14 |