Incidental Mutation 'R5622:Plcb2'
ID |
441605 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plcb2
|
Ensembl Gene |
ENSMUSG00000040061 |
Gene Name |
phospholipase C, beta 2 |
Synonyms |
B230205M18Rik |
MMRRC Submission |
043161-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5622 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
118537998-118558919 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 118545210 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 630
(S630R)
|
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: S653R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099583 Gene: ENSMUSG00000040061 AA Change: S653R
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 damaging
Transcript: ENSMUST00000159756
AA Change: S630R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124364 Gene: ENSMUSG00000040061 AA Change: S630R
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 |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.2%
|
Validation Efficiency |
97% (69/71) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
A |
T |
17: 24,546,642 (GRCm39) |
S320T |
probably benign |
Het |
Alg8 |
T |
A |
7: 97,036,006 (GRCm39) |
|
probably benign |
Het |
Anp32b |
G |
A |
4: 46,469,930 (GRCm39) |
E202K |
unknown |
Het |
Apcdd1 |
A |
G |
18: 63,069,973 (GRCm39) |
|
probably null |
Het |
Apobec2 |
A |
G |
17: 48,730,444 (GRCm39) |
V74A |
possibly damaging |
Het |
Arid3c |
A |
T |
4: 41,729,959 (GRCm39) |
C79S |
probably benign |
Het |
Atp1a2 |
A |
T |
1: 172,118,994 (GRCm39) |
|
probably benign |
Het |
B2m |
A |
T |
2: 121,981,471 (GRCm39) |
N62I |
probably damaging |
Het |
Borcs5 |
T |
C |
6: 134,663,086 (GRCm39) |
|
probably null |
Het |
Ccn1 |
A |
G |
3: 145,355,075 (GRCm39) |
L60P |
probably damaging |
Het |
Cdk11b |
A |
G |
4: 155,714,674 (GRCm39) |
K127E |
probably damaging |
Het |
Cep170 |
T |
C |
1: 176,563,433 (GRCm39) |
H726R |
possibly damaging |
Het |
Col5a2 |
A |
C |
1: 45,466,219 (GRCm39) |
S190A |
probably benign |
Het |
Cryba4 |
T |
C |
5: 112,398,990 (GRCm39) |
D5G |
probably damaging |
Het |
Cyp2a5 |
T |
G |
7: 26,535,299 (GRCm39) |
V87G |
probably damaging |
Het |
Dcaf8 |
A |
G |
1: 172,013,965 (GRCm39) |
|
probably benign |
Het |
Dchs1 |
A |
G |
7: 105,404,500 (GRCm39) |
S2681P |
probably benign |
Het |
Ddx20 |
A |
G |
3: 105,586,327 (GRCm39) |
S673P |
probably damaging |
Het |
Deptor |
T |
A |
15: 55,044,428 (GRCm39) |
I198N |
probably damaging |
Het |
Ebf2 |
T |
C |
14: 67,628,007 (GRCm39) |
I334T |
possibly damaging |
Het |
F5 |
A |
G |
1: 164,020,134 (GRCm39) |
R870G |
probably benign |
Het |
Flg2 |
A |
C |
3: 93,109,871 (GRCm39) |
H633P |
unknown |
Het |
Gm11938 |
T |
A |
11: 99,494,119 (GRCm39) |
|
probably null |
Het |
Gm6370 |
A |
G |
5: 146,430,708 (GRCm39) |
T298A |
probably benign |
Het |
H60b |
C |
A |
10: 22,159,441 (GRCm39) |
|
probably benign |
Het |
Hsbp1 |
A |
G |
8: 120,071,324 (GRCm39) |
T4A |
possibly damaging |
Het |
Hsd3b3 |
A |
T |
3: 98,649,524 (GRCm39) |
D266E |
possibly damaging |
Het |
Ift172 |
T |
C |
5: 31,440,426 (GRCm39) |
Y287C |
probably damaging |
Het |
Il20rb |
T |
A |
9: 100,368,371 (GRCm39) |
Q4L |
probably benign |
Het |
Krt5 |
T |
C |
15: 101,617,470 (GRCm39) |
D421G |
probably damaging |
Het |
Lonp1 |
G |
C |
17: 56,927,263 (GRCm39) |
A330G |
probably benign |
Het |
Me3 |
A |
G |
7: 89,445,871 (GRCm39) |
D196G |
probably damaging |
Het |
Mfsd12 |
T |
A |
10: 81,199,461 (GRCm39) |
V451E |
probably null |
Het |
Mib1 |
A |
G |
18: 10,794,503 (GRCm39) |
N663S |
possibly damaging |
Het |
Mtus2 |
A |
T |
5: 148,015,244 (GRCm39) |
N679I |
probably benign |
Het |
Myt1 |
A |
G |
2: 181,438,915 (GRCm39) |
T146A |
probably benign |
Het |
Neb |
T |
A |
2: 52,160,281 (GRCm39) |
H2244L |
probably damaging |
Het |
Or51l4 |
T |
C |
7: 103,404,376 (GRCm39) |
T139A |
probably damaging |
Het |
Or5b21 |
A |
C |
19: 12,839,663 (GRCm39) |
I175L |
probably benign |
Het |
Or5p81 |
C |
T |
7: 108,267,289 (GRCm39) |
T222I |
probably benign |
Het |
Pabpc4 |
A |
G |
4: 123,185,524 (GRCm39) |
|
probably null |
Het |
Padi1 |
C |
A |
4: 140,552,266 (GRCm39) |
V393L |
probably damaging |
Het |
Pax2 |
A |
T |
19: 44,806,905 (GRCm39) |
D300V |
probably damaging |
Het |
Pcgf2 |
T |
C |
11: 97,581,078 (GRCm39) |
E71G |
probably damaging |
Het |
Pi4kb |
A |
G |
3: 94,906,172 (GRCm39) |
Q573R |
possibly damaging |
Het |
Pitpna |
T |
A |
11: 75,511,153 (GRCm39) |
M242K |
possibly damaging |
Het |
Pkd1 |
A |
G |
17: 24,793,014 (GRCm39) |
E1567G |
possibly damaging |
Het |
Prrt2 |
A |
T |
7: 126,618,937 (GRCm39) |
V176D |
probably benign |
Het |
Prss1l |
A |
C |
6: 41,373,084 (GRCm39) |
N119H |
probably damaging |
Het |
Prss42 |
T |
C |
9: 110,628,490 (GRCm39) |
|
probably null |
Het |
Rhoq |
A |
G |
17: 87,304,459 (GRCm39) |
R197G |
probably benign |
Het |
Rin2 |
A |
T |
2: 145,702,299 (GRCm39) |
T332S |
probably benign |
Het |
Rnps1-ps |
C |
T |
6: 7,982,605 (GRCm39) |
|
noncoding transcript |
Het |
Rp1 |
A |
T |
1: 4,418,060 (GRCm39) |
N1017K |
possibly damaging |
Het |
Setbp1 |
T |
A |
18: 78,900,700 (GRCm39) |
Y989F |
probably damaging |
Het |
Slc11a1 |
G |
A |
1: 74,420,065 (GRCm39) |
G191D |
probably damaging |
Het |
Slc35f5 |
G |
A |
1: 125,517,693 (GRCm39) |
R497Q |
probably damaging |
Het |
Slf1 |
T |
C |
13: 77,198,090 (GRCm39) |
K728R |
probably benign |
Het |
Tiparp |
T |
G |
3: 65,454,946 (GRCm39) |
S364A |
probably benign |
Het |
Tph1 |
G |
A |
7: 46,296,969 (GRCm39) |
Q409* |
probably null |
Het |
Trp73 |
A |
T |
4: 154,145,049 (GRCm39) |
I526N |
possibly damaging |
Het |
Ttc9c |
G |
A |
19: 8,793,332 (GRCm39) |
R103* |
probably null |
Het |
Vmn2r75 |
T |
A |
7: 85,797,702 (GRCm39) |
I704F |
probably benign |
Het |
Wdr76 |
A |
G |
2: 121,348,216 (GRCm39) |
R63G |
probably damaging |
Het |
Zc3h3 |
T |
A |
15: 75,648,928 (GRCm39) |
S735C |
probably damaging |
Het |
Zfp383 |
G |
A |
7: 29,611,615 (GRCm39) |
V32M |
probably damaging |
Het |
Zfp810 |
T |
A |
9: 22,190,392 (GRCm39) |
Y172F |
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 |
118,541,868 (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 |
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 |
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'- GAGGCAGTTTCCAAGGCAAC -3'
(R):5'- GGGGCATGAGAAACTCTTACCTTC -3'
Sequencing Primer
(F):5'- TCTTCAAGATATCAGGAAAGGGG -3'
(R):5'- CAGGTTACACCATCCTCA -3'
|
Posted On |
2016-11-08 |