Incidental Mutation 'R2211:Plcb2'
| ID |
239354 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcb2
|
| Ensembl Gene |
ENSMUSG00000040061 |
| Gene Name |
phospholipase C, beta 2 |
| Synonyms |
B230205M18Rik |
| MMRRC Submission |
040213-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2211 (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 C
at 118554015 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 102
(D102G)
|
| 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: D125G
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000099583
Gene: ENSMUSG00000040061
AA Change: D125G
| 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: D102G
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000124364
Gene: ENSMUSG00000040061
AA Change: D102G
| 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: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam18 |
A |
G |
8: 25,118,171 (GRCm39) |
S34P |
probably damaging |
Het |
| Adam23 |
T |
A |
1: 63,612,288 (GRCm39) |
|
probably benign |
Het |
| Adcy10 |
A |
T |
1: 165,345,781 (GRCm39) |
I277F |
probably damaging |
Het |
| Arfgef3 |
A |
T |
10: 18,467,993 (GRCm39) |
S1736T |
possibly damaging |
Het |
| Arhgap21 |
A |
T |
2: 20,886,451 (GRCm39) |
M242K |
possibly damaging |
Het |
| Arhgef18 |
T |
C |
8: 3,437,680 (GRCm39) |
S268P |
possibly damaging |
Het |
| Astn1 |
A |
G |
1: 158,484,876 (GRCm39) |
R4G |
probably benign |
Het |
| AU041133 |
G |
A |
10: 81,986,755 (GRCm39) |
C135Y |
probably damaging |
Het |
| Cdc42bpb |
A |
G |
12: 111,268,288 (GRCm39) |
V53A |
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,301,783 (GRCm39) |
D428G |
possibly damaging |
Het |
| Cebpa |
T |
C |
7: 34,819,891 (GRCm39) |
S350P |
probably damaging |
Het |
| Cftr |
A |
G |
6: 18,214,279 (GRCm39) |
M152V |
probably null |
Het |
| Cpa4 |
A |
G |
6: 30,583,649 (GRCm39) |
N255S |
possibly damaging |
Het |
| Ddx51 |
T |
A |
5: 110,803,634 (GRCm39) |
D343E |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,518,932 (GRCm39) |
I2942V |
probably benign |
Het |
| Dnajc1 |
G |
T |
2: 18,397,286 (GRCm39) |
A9E |
probably damaging |
Het |
| Dpysl5 |
G |
A |
5: 30,948,941 (GRCm39) |
D399N |
probably damaging |
Het |
| Edem3 |
A |
G |
1: 151,680,453 (GRCm39) |
D526G |
possibly damaging |
Het |
| Emc10 |
G |
A |
7: 44,142,616 (GRCm39) |
R109W |
probably damaging |
Het |
| Etaa1 |
G |
A |
11: 17,902,686 (GRCm39) |
Q84* |
probably null |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fam149a |
G |
A |
8: 45,794,046 (GRCm39) |
T674I |
probably damaging |
Het |
| Fam98a |
A |
G |
17: 75,845,940 (GRCm39) |
|
probably null |
Het |
| Fat4 |
A |
G |
3: 38,945,676 (GRCm39) |
N1523S |
possibly damaging |
Het |
| Fbxw10 |
A |
G |
11: 62,758,361 (GRCm39) |
T529A |
probably damaging |
Het |
| Gzf1 |
C |
T |
2: 148,526,870 (GRCm39) |
A447V |
probably damaging |
Het |
| Hap1 |
G |
A |
11: 100,245,550 (GRCm39) |
T138M |
probably benign |
Het |
| Hic1 |
T |
A |
11: 75,060,210 (GRCm39) |
R46W |
possibly damaging |
Het |
| Id4 |
T |
A |
13: 48,415,278 (GRCm39) |
L102Q |
probably damaging |
Het |
| Il3ra |
T |
C |
14: 14,355,029 (GRCm38) |
C271R |
probably benign |
Het |
| Ints4 |
T |
C |
7: 97,158,957 (GRCm39) |
I443T |
possibly damaging |
Het |
| Lmln |
A |
G |
16: 32,930,148 (GRCm39) |
E535G |
probably benign |
Het |
| Lrrtm4 |
A |
G |
6: 79,999,623 (GRCm39) |
H345R |
probably benign |
Het |
| Ltbp3 |
T |
C |
19: 5,803,990 (GRCm39) |
I834T |
possibly damaging |
Het |
| Mnd1 |
C |
A |
3: 84,041,416 (GRCm39) |
C62F |
probably benign |
Het |
| Ms4a18 |
C |
A |
19: 10,974,669 (GRCm39) |
V341L |
probably benign |
Het |
| Nbr1 |
T |
C |
11: 101,458,090 (GRCm39) |
|
probably null |
Het |
| Nf1 |
T |
C |
11: 79,334,890 (GRCm39) |
M914T |
probably benign |
Het |
| Notch3 |
T |
A |
17: 32,366,952 (GRCm39) |
H861L |
probably benign |
Het |
| Nup58 |
A |
G |
14: 60,470,089 (GRCm39) |
F341L |
probably damaging |
Het |
| Ogfod2 |
C |
A |
5: 124,250,843 (GRCm39) |
|
probably null |
Het |
| Oit3 |
T |
C |
10: 59,263,892 (GRCm39) |
D414G |
probably damaging |
Het |
| Or6c5c |
A |
T |
10: 129,298,809 (GRCm39) |
K88M |
probably damaging |
Het |
| Or6c6c |
A |
G |
10: 129,541,320 (GRCm39) |
H191R |
probably benign |
Het |
| Or8k32 |
T |
C |
2: 86,368,857 (GRCm39) |
Y132C |
probably damaging |
Het |
| Or9q2 |
T |
A |
19: 13,772,733 (GRCm39) |
M81L |
probably benign |
Het |
| Pals1 |
A |
T |
12: 78,844,022 (GRCm39) |
K75N |
possibly damaging |
Het |
| Pcbp4 |
C |
A |
9: 106,337,933 (GRCm39) |
H74Q |
probably benign |
Het |
| Pip5k1b |
A |
T |
19: 24,356,214 (GRCm39) |
D241E |
probably damaging |
Het |
| Plekha5 |
G |
A |
6: 140,471,587 (GRCm39) |
E4K |
possibly damaging |
Het |
| Ppargc1a |
A |
C |
5: 51,631,601 (GRCm39) |
S343A |
possibly damaging |
Het |
| Ppwd1 |
G |
A |
13: 104,343,650 (GRCm39) |
S585L |
probably benign |
Het |
| Rarg |
T |
C |
15: 102,147,959 (GRCm39) |
N284S |
probably benign |
Het |
| Rnpepl1 |
C |
T |
1: 92,844,102 (GRCm39) |
L278F |
probably damaging |
Het |
| Rp1 |
A |
C |
1: 4,418,362 (GRCm39) |
S917A |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGAGGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Rsph3b |
T |
C |
17: 7,209,139 (GRCm39) |
S189G |
probably benign |
Het |
| Sec31b |
A |
T |
19: 44,511,589 (GRCm39) |
L604Q |
probably damaging |
Het |
| Sema6b |
T |
A |
17: 56,431,741 (GRCm39) |
I641F |
probably benign |
Het |
| Slc35f5 |
A |
T |
1: 125,507,001 (GRCm39) |
I309F |
possibly damaging |
Het |
| Smarca4 |
A |
G |
9: 21,597,325 (GRCm39) |
E1360G |
probably damaging |
Het |
| Spata31d1c |
T |
C |
13: 65,183,753 (GRCm39) |
S432P |
probably benign |
Het |
| Spsb3 |
T |
C |
17: 25,109,911 (GRCm39) |
|
probably null |
Het |
| Sptbn4 |
T |
C |
7: 27,067,034 (GRCm39) |
D1960G |
probably damaging |
Het |
| Srgap1 |
A |
G |
10: 121,689,645 (GRCm39) |
V345A |
possibly damaging |
Het |
| Tiam2 |
C |
A |
17: 3,465,193 (GRCm39) |
C307* |
probably null |
Het |
| Trim43b |
T |
A |
9: 88,967,302 (GRCm39) |
T444S |
possibly damaging |
Het |
| Trmt13 |
A |
G |
3: 116,388,403 (GRCm39) |
I11T |
probably benign |
Het |
| Ylpm1 |
A |
T |
12: 85,091,152 (GRCm39) |
R1073* |
probably null |
Het |
| Zfp524 |
T |
C |
7: 5,020,918 (GRCm39) |
S149P |
probably damaging |
Het |
| Zfp777 |
T |
C |
6: 48,020,819 (GRCm39) |
I312V |
possibly 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 |
|
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'- GCATCTTAAGCTTCACCAGGC -3'
(R):5'- TTCCTGCTGAAAACACTCACAG -3'
Sequencing Primer
(F):5'- ATCTTAAGCTTCACCAGGCTGGAG -3'
(R):5'- CTGACATGGTGGACCTCAC -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation