Incidental Mutation 'IGL01868:Plcb2'
ID |
178619 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Plcb2
|
Ensembl Gene |
ENSMUSG00000040061 |
Gene Name |
phospholipase C, beta 2 |
Synonyms |
B230205M18Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01868
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
118537998-118558919 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 118541868 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Asparagine
at position 914
(T914N)
|
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: T937N
PolyPhen 2
Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000099583 Gene: ENSMUSG00000040061 AA Change: T937N
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: ENSMUST00000126907
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127248
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129153
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159756
AA Change: T914N
PolyPhen 2
Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000124364 Gene: ENSMUSG00000040061 AA Change: T914N
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 |
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afg3l2 |
G |
A |
18: 67,547,218 (GRCm39) |
T569M |
possibly damaging |
Het |
Aldh1l1 |
A |
T |
6: 90,560,212 (GRCm39) |
K620* |
probably null |
Het |
Amdhd2 |
G |
T |
17: 24,376,504 (GRCm39) |
T346K |
probably damaging |
Het |
Arhgap44 |
T |
C |
11: 64,902,904 (GRCm39) |
D521G |
probably damaging |
Het |
Ccdc146 |
C |
A |
5: 21,538,052 (GRCm39) |
A91S |
probably damaging |
Het |
Ccdc187 |
C |
A |
2: 26,170,960 (GRCm39) |
R506L |
probably benign |
Het |
Cd37 |
T |
C |
7: 44,885,603 (GRCm39) |
Q128R |
probably benign |
Het |
Cdh22 |
T |
A |
2: 164,999,278 (GRCm39) |
M185L |
probably damaging |
Het |
Cib2 |
A |
T |
9: 54,455,759 (GRCm39) |
N68K |
probably damaging |
Het |
Ddx46 |
C |
T |
13: 55,787,683 (GRCm39) |
R96* |
probably null |
Het |
Dnajc13 |
A |
T |
9: 104,039,944 (GRCm39) |
H2050Q |
possibly damaging |
Het |
Drgx |
C |
A |
14: 32,330,334 (GRCm39) |
F150L |
probably damaging |
Het |
Duox1 |
A |
G |
2: 122,168,888 (GRCm39) |
H1172R |
probably benign |
Het |
Eftud2 |
C |
T |
11: 102,759,953 (GRCm39) |
V132I |
probably benign |
Het |
Fcrl5 |
G |
A |
3: 87,351,014 (GRCm39) |
D87N |
possibly damaging |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
Kat6a |
T |
C |
8: 23,416,471 (GRCm39) |
F660L |
probably damaging |
Het |
Lipo2 |
T |
C |
19: 33,708,238 (GRCm39) |
M259V |
probably benign |
Het |
Lrrcc1 |
T |
A |
3: 14,619,417 (GRCm39) |
L90* |
probably null |
Het |
Lsm1 |
G |
A |
8: 26,283,821 (GRCm39) |
|
probably null |
Het |
Luzp1 |
T |
C |
4: 136,270,048 (GRCm39) |
I757T |
probably damaging |
Het |
Micall1 |
A |
G |
15: 78,999,260 (GRCm39) |
I76V |
probably benign |
Het |
Mmp21 |
A |
T |
7: 133,277,643 (GRCm39) |
D394E |
probably damaging |
Het |
Mtfr1l |
T |
C |
4: 134,258,018 (GRCm39) |
D68G |
probably null |
Het |
Necab2 |
A |
G |
8: 120,189,315 (GRCm39) |
S162G |
probably benign |
Het |
Or11a4 |
A |
T |
17: 37,536,043 (GRCm39) |
Q9L |
probably benign |
Het |
Or4c100 |
T |
C |
2: 88,356,059 (GRCm39) |
V44A |
possibly damaging |
Het |
Or51b17 |
G |
A |
7: 103,542,583 (GRCm39) |
R120* |
probably null |
Het |
Or6n1 |
C |
T |
1: 173,916,936 (GRCm39) |
T110I |
possibly damaging |
Het |
Pde7b |
A |
T |
10: 20,282,911 (GRCm39) |
C376* |
probably null |
Het |
Pira12 |
G |
A |
7: 3,900,174 (GRCm39) |
Q143* |
probably null |
Het |
Prph |
C |
A |
15: 98,954,224 (GRCm39) |
D207E |
probably damaging |
Het |
Rbp4 |
C |
A |
19: 38,112,968 (GRCm39) |
R37L |
probably damaging |
Het |
Ryr3 |
T |
C |
2: 112,633,503 (GRCm39) |
|
probably benign |
Het |
Sardh |
T |
G |
2: 27,117,159 (GRCm39) |
Q496P |
probably benign |
Het |
Serpina1f |
T |
A |
12: 103,659,704 (GRCm39) |
N193Y |
probably benign |
Het |
Slc10a7 |
G |
A |
8: 79,423,965 (GRCm39) |
|
probably null |
Het |
Spg7 |
T |
C |
8: 123,816,975 (GRCm39) |
|
probably null |
Het |
Sphkap |
T |
C |
1: 83,258,120 (GRCm39) |
|
probably null |
Het |
Tas2r121 |
T |
A |
6: 132,677,235 (GRCm39) |
I246L |
probably benign |
Het |
Tbc1d9b |
T |
C |
11: 50,052,460 (GRCm39) |
F889S |
probably damaging |
Het |
Tcp10a |
T |
C |
17: 7,597,263 (GRCm39) |
M140T |
possibly damaging |
Het |
Tctn2 |
G |
A |
5: 124,754,591 (GRCm39) |
|
noncoding transcript |
Het |
Tfap2b |
G |
T |
1: 19,284,506 (GRCm39) |
R138L |
probably damaging |
Het |
Tnrc18 |
T |
C |
5: 142,757,567 (GRCm39) |
T985A |
unknown |
Het |
Treml1 |
G |
A |
17: 48,673,035 (GRCm39) |
V211I |
probably benign |
Het |
Ubr4 |
C |
T |
4: 139,139,989 (GRCm39) |
Q1191* |
probably null |
Het |
Vim |
G |
A |
2: 13,583,249 (GRCm39) |
R217H |
possibly damaging |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r77 |
A |
G |
7: 86,452,224 (GRCm39) |
D468G |
probably benign |
Het |
Vmn2r98 |
G |
T |
17: 19,286,548 (GRCm39) |
V349F |
probably benign |
Het |
Vwa7 |
A |
T |
17: 35,240,235 (GRCm39) |
E401V |
probably null |
Het |
Zfp119b |
C |
A |
17: 56,246,866 (GRCm39) |
V75L |
possibly damaging |
Het |
Zfp287 |
C |
T |
11: 62,606,083 (GRCm39) |
E275K |
probably benign |
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 |
118,540,071 (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 |
|
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 |
|
Posted On |
2014-05-07 |