Incidental Mutation 'R4935:Plcb2'
ID |
380277 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plcb2
|
Ensembl Gene |
ENSMUSG00000040061 |
Gene Name |
phospholipase C, beta 2 |
Synonyms |
B230205M18Rik |
MMRRC Submission |
042535-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4935 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
118537998-118558919 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 118549396 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 322
(Y322F)
|
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 damaging
Transcript: ENSMUST00000102524
AA Change: Y345F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099583 Gene: ENSMUSG00000040061 AA Change: Y345F
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 |
probably damaging
Transcript: ENSMUST00000159756
AA Change: Y322F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124364 Gene: ENSMUSG00000040061 AA Change: Y322F
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: 98.9%
- 3x: 97.9%
- 10x: 94.8%
- 20x: 86.9%
|
Validation Efficiency |
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A730071L15Rik |
A |
G |
11: 6,150,442 (GRCm39) |
*138W |
probably null |
Het |
Abcb1a |
T |
A |
5: 8,787,773 (GRCm39) |
|
probably null |
Het |
Acp6 |
T |
C |
3: 97,079,060 (GRCm39) |
|
probably null |
Het |
Adcyap1 |
A |
T |
17: 93,511,541 (GRCm39) |
I172L |
probably benign |
Het |
Adgrf1 |
A |
C |
17: 43,606,130 (GRCm39) |
I85L |
probably benign |
Het |
Afdn |
A |
T |
17: 14,111,228 (GRCm39) |
T1604S |
probably benign |
Het |
Angpt2 |
T |
C |
8: 18,742,131 (GRCm39) |
Y475C |
probably damaging |
Het |
Ank2 |
A |
G |
3: 126,749,713 (GRCm39) |
S439P |
probably damaging |
Het |
Ank3 |
T |
A |
10: 69,812,033 (GRCm39) |
N366K |
probably damaging |
Het |
Ankrd11 |
A |
G |
8: 123,626,922 (GRCm39) |
S87P |
probably benign |
Het |
Ano7 |
T |
A |
1: 93,323,036 (GRCm39) |
S459T |
possibly damaging |
Het |
Asxl3 |
G |
A |
18: 22,656,369 (GRCm39) |
V1460M |
probably benign |
Het |
Atg16l1 |
A |
C |
1: 87,694,764 (GRCm39) |
N147T |
possibly damaging |
Het |
Atp10a |
T |
C |
7: 58,463,512 (GRCm39) |
V1015A |
probably damaging |
Het |
Atxn7 |
T |
A |
14: 14,100,401 (GRCm38) |
S696T |
probably benign |
Het |
Babam1 |
C |
T |
8: 71,852,446 (GRCm39) |
T184I |
probably benign |
Het |
Blk |
A |
G |
14: 63,618,711 (GRCm39) |
S175P |
possibly damaging |
Het |
Col5a1 |
T |
A |
2: 27,914,754 (GRCm39) |
F123L |
probably damaging |
Het |
Csmd3 |
T |
C |
15: 48,024,480 (GRCm39) |
Y496C |
probably damaging |
Het |
Dnah3 |
A |
T |
7: 119,615,700 (GRCm39) |
Y1676* |
probably null |
Het |
Fdxacb1 |
T |
A |
9: 50,683,243 (GRCm39) |
M402K |
probably benign |
Het |
Frmd5 |
A |
G |
2: 121,393,405 (GRCm39) |
V141A |
possibly damaging |
Het |
Gapvd1 |
G |
A |
2: 34,594,504 (GRCm39) |
R685* |
probably null |
Het |
Grik2 |
A |
G |
10: 49,116,826 (GRCm39) |
L645P |
probably damaging |
Het |
H2aj |
T |
A |
6: 136,785,681 (GRCm39) |
V115E |
possibly damaging |
Het |
Hrh3 |
T |
C |
2: 179,743,061 (GRCm39) |
Y189C |
probably damaging |
Het |
Kcnc2 |
A |
G |
10: 112,108,133 (GRCm39) |
T175A |
probably benign |
Het |
Kcnv2 |
A |
G |
19: 27,300,332 (GRCm39) |
Y61C |
probably damaging |
Het |
Kif24 |
T |
C |
4: 41,394,939 (GRCm39) |
R645G |
probably damaging |
Het |
Knl1 |
A |
G |
2: 118,899,438 (GRCm39) |
I380V |
possibly damaging |
Het |
Lamb2 |
A |
G |
9: 108,364,700 (GRCm39) |
I1151M |
possibly damaging |
Het |
Leo1 |
A |
G |
9: 75,353,159 (GRCm39) |
D234G |
probably benign |
Het |
Lrp1b |
T |
G |
2: 41,388,405 (GRCm39) |
N407H |
probably benign |
Het |
Matn2 |
T |
C |
15: 34,428,831 (GRCm39) |
S732P |
probably damaging |
Het |
Mrps30 |
A |
T |
13: 118,523,431 (GRCm39) |
F114I |
possibly damaging |
Het |
Or1l8 |
T |
C |
2: 36,817,713 (GRCm39) |
N138D |
probably benign |
Het |
Or4f17-ps1 |
G |
A |
2: 111,357,793 (GRCm39) |
V45I |
probably damaging |
Het |
Or5b123 |
T |
C |
19: 13,597,066 (GRCm39) |
I180T |
probably benign |
Het |
Oxr1 |
T |
C |
15: 41,676,980 (GRCm39) |
V179A |
probably benign |
Het |
Plaur |
A |
T |
7: 24,166,141 (GRCm39) |
S71C |
possibly damaging |
Het |
Plbd2 |
T |
C |
5: 120,624,786 (GRCm39) |
N461D |
possibly damaging |
Het |
Prkab2 |
T |
C |
3: 97,569,671 (GRCm39) |
V79A |
probably damaging |
Het |
Ptpn3 |
A |
T |
4: 57,197,568 (GRCm39) |
C774S |
probably damaging |
Het |
Ring1 |
A |
C |
17: 34,242,016 (GRCm39) |
L131R |
probably benign |
Het |
Rxfp2 |
G |
A |
5: 149,975,097 (GRCm39) |
|
probably null |
Het |
Selenbp1 |
A |
T |
3: 94,845,269 (GRCm39) |
I122F |
probably benign |
Het |
Septin7 |
A |
G |
9: 25,217,468 (GRCm39) |
H394R |
probably benign |
Het |
Slc1a7 |
G |
A |
4: 107,864,758 (GRCm39) |
V266I |
probably damaging |
Het |
Slc2a10 |
A |
G |
2: 165,359,578 (GRCm39) |
T481A |
probably benign |
Het |
Spmap2l |
T |
C |
5: 77,185,200 (GRCm39) |
|
probably null |
Het |
Tapbp |
A |
G |
17: 34,144,596 (GRCm39) |
M231V |
probably benign |
Het |
Tbxas1 |
A |
T |
6: 38,999,981 (GRCm39) |
N256I |
probably benign |
Het |
Uimc1 |
A |
G |
13: 55,240,998 (GRCm39) |
I30T |
probably damaging |
Het |
Usp48 |
C |
A |
4: 137,377,669 (GRCm39) |
N231K |
probably benign |
Het |
Zfhx3 |
T |
G |
8: 109,674,482 (GRCm39) |
V1844G |
possibly damaging |
Het |
Znrf3 |
A |
T |
11: 5,233,422 (GRCm39) |
C212S |
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 |
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'- AGGCTCTTTCTGATGGCCAC -3'
(R):5'- TGCTGATCCACCAAGACATG -3'
Sequencing Primer
(F):5'- ATGGCCACTGTCATCAGC -3'
(R):5'- TGGGTCCTGGAAGCCTCATG -3'
|
Posted On |
2016-04-15 |