Incidental Mutation 'R5593:Plcb3'
ID |
437669 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plcb3
|
Ensembl Gene |
ENSMUSG00000024960 |
Gene Name |
phospholipase C, beta 3 |
Synonyms |
|
MMRRC Submission |
043145-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.702)
|
Stock # |
R5593 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
6931081-6951738 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 6932117 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 1124
(I1124V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025912
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025910]
[ENSMUST00000025912]
[ENSMUST00000113423]
[ENSMUST00000113426]
|
AlphaFold |
P51432 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025910
|
SMART Domains |
Protein: ENSMUSP00000025910 Gene: ENSMUSG00000024959
Domain | Start | End | E-Value | Type |
Pfam:Bcl-2_BAD
|
43 |
204 |
5e-93 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025912
AA Change: I1124V
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000025912 Gene: ENSMUSG00000024960 AA Change: I1124V
Domain | Start | End | E-Value | Type |
Pfam:EF-hand_like
|
225 |
316 |
6.6e-23 |
PFAM |
PLCXc
|
317 |
468 |
4.26e-73 |
SMART |
low complexity region
|
488 |
515 |
N/A |
INTRINSIC |
low complexity region
|
553 |
578 |
N/A |
INTRINSIC |
PLCYc
|
591 |
707 |
3.88e-76 |
SMART |
C2
|
728 |
826 |
4.52e-14 |
SMART |
low complexity region
|
917 |
936 |
N/A |
INTRINSIC |
Pfam:PLC-beta_C
|
1029 |
1202 |
5.5e-57 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113423
|
SMART Domains |
Protein: ENSMUSP00000109050 Gene: ENSMUSG00000024959
Domain | Start | End | E-Value | Type |
Pfam:Bcl-2_BAD
|
1 |
162 |
9.1e-92 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113426
|
SMART Domains |
Protein: ENSMUSP00000109053 Gene: ENSMUSG00000024959
Domain | Start | End | E-Value | Type |
Pfam:Bcl-2_BAD
|
43 |
172 |
5.7e-66 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141410
|
SMART Domains |
Protein: ENSMUSP00000114597 Gene: ENSMUSG00000024959
Domain | Start | End | E-Value | Type |
Pfam:Bcl-2_BAD
|
1 |
134 |
2.9e-62 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145463
|
SMART Domains |
Protein: ENSMUSP00000121778 Gene: ENSMUSG00000024959
Domain | Start | End | E-Value | Type |
Pfam:Bcl-2_BAD
|
1 |
51 |
1.4e-11 |
PFAM |
|
Meta Mutation Damage Score |
0.0748 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
Validation Efficiency |
100% (71/71) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the phosphoinositide phospholipase C beta enzyme family that catalyze the production of the secondary messengers diacylglycerol and inositol 1,4,5-triphosphate from phosphatidylinositol in G-protein-linked receptor-mediated signal transduction. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010] PHENOTYPE: Mice homozygous for one targeted mutation die at E2.5 and exhibit poor embryonic organization and hypocellularity. Mice homozygous for a second targeted mutation survive to adulthood and exhibit an increased antinocieptive response to opioids. [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 |
4930556J24Rik |
C |
T |
11: 3,888,027 (GRCm39) |
V120I |
unknown |
Het |
Anpep |
T |
G |
7: 79,491,794 (GRCm39) |
K69T |
probably benign |
Het |
Appbp2 |
A |
T |
11: 85,085,409 (GRCm39) |
I499K |
possibly damaging |
Het |
Copb2 |
A |
G |
9: 98,469,091 (GRCm39) |
|
probably null |
Het |
Cpa5 |
T |
C |
6: 30,630,848 (GRCm39) |
I370T |
probably benign |
Het |
Cpn2 |
T |
C |
16: 30,078,898 (GRCm39) |
T268A |
probably benign |
Het |
Ctbp2 |
C |
A |
7: 132,600,598 (GRCm39) |
R99I |
possibly damaging |
Het |
Cul1 |
G |
A |
6: 47,462,020 (GRCm39) |
W196* |
probably null |
Het |
Cul1 |
T |
C |
6: 47,491,925 (GRCm39) |
F402L |
probably damaging |
Het |
Cysltr2 |
T |
C |
14: 73,266,931 (GRCm39) |
K260E |
probably benign |
Het |
Dyrk1a |
C |
A |
16: 94,460,442 (GRCm39) |
Q33K |
possibly damaging |
Het |
Elapor2 |
T |
A |
5: 9,316,350 (GRCm39) |
L27Q |
probably benign |
Het |
Epg5 |
T |
A |
18: 78,000,689 (GRCm39) |
S542T |
probably damaging |
Het |
Eps8l3 |
A |
T |
3: 107,798,504 (GRCm39) |
|
probably benign |
Het |
Evc2 |
A |
G |
5: 37,544,321 (GRCm39) |
H690R |
probably damaging |
Het |
Fam227a |
G |
A |
15: 79,524,259 (GRCm39) |
|
probably benign |
Het |
Gadl1 |
G |
T |
9: 115,835,718 (GRCm39) |
G382V |
probably damaging |
Het |
Gbf1 |
A |
G |
19: 46,260,963 (GRCm39) |
Q1176R |
possibly damaging |
Het |
Gdf9 |
A |
T |
11: 53,324,558 (GRCm39) |
H109L |
probably damaging |
Het |
Gsdmd |
T |
A |
15: 75,738,856 (GRCm39) |
V411D |
probably damaging |
Het |
Hdc |
T |
C |
2: 126,460,504 (GRCm39) |
|
probably benign |
Het |
Ifrd2 |
A |
G |
9: 107,467,374 (GRCm39) |
D82G |
probably damaging |
Het |
Itpkb |
T |
C |
1: 180,161,661 (GRCm39) |
S596P |
probably damaging |
Het |
Kcnmb3 |
A |
G |
3: 32,546,096 (GRCm39) |
V8A |
possibly damaging |
Het |
Lyst |
T |
G |
13: 13,917,918 (GRCm39) |
I3326S |
probably damaging |
Het |
Mcm9 |
G |
A |
10: 53,414,393 (GRCm39) |
T229I |
probably damaging |
Het |
Medag |
T |
A |
5: 149,350,415 (GRCm39) |
F21L |
probably benign |
Het |
Mefv |
A |
T |
16: 3,533,315 (GRCm39) |
C319S |
probably benign |
Het |
Mettl23 |
T |
A |
11: 116,734,593 (GRCm39) |
V54D |
probably damaging |
Het |
Mul1 |
A |
G |
4: 138,166,543 (GRCm39) |
D199G |
probably damaging |
Het |
Ncor1 |
A |
T |
11: 62,260,130 (GRCm39) |
I266N |
probably damaging |
Het |
Nek10 |
A |
T |
14: 14,980,544 (GRCm38) |
K967* |
probably null |
Het |
Nrcam |
A |
G |
12: 44,606,483 (GRCm39) |
T410A |
probably damaging |
Het |
Or1p1 |
A |
G |
11: 74,179,618 (GRCm39) |
I49V |
possibly damaging |
Het |
Or2b11 |
T |
C |
11: 59,461,874 (GRCm39) |
R231G |
possibly damaging |
Het |
Or52d13 |
C |
T |
7: 103,109,592 (GRCm39) |
|
silent |
Het |
Or52e4 |
T |
C |
7: 104,705,711 (GRCm39) |
I86T |
probably damaging |
Het |
Pate2 |
A |
T |
9: 35,581,778 (GRCm39) |
D24V |
possibly damaging |
Het |
Ptprc |
A |
T |
1: 138,045,458 (GRCm39) |
|
probably benign |
Het |
Rab6a |
T |
C |
7: 100,257,378 (GRCm39) |
|
probably benign |
Het |
Rnf208 |
G |
T |
2: 25,133,345 (GRCm39) |
W13L |
possibly damaging |
Het |
Rps6kl1 |
G |
T |
12: 85,193,675 (GRCm39) |
Q139K |
possibly damaging |
Het |
Sdk1 |
T |
A |
5: 141,941,879 (GRCm39) |
I509N |
probably damaging |
Het |
Sephs1 |
A |
G |
2: 4,898,098 (GRCm39) |
I170V |
probably benign |
Het |
Slc17a8 |
C |
T |
10: 89,442,702 (GRCm39) |
D44N |
probably benign |
Het |
Slc23a1 |
T |
A |
18: 35,755,349 (GRCm39) |
I489F |
probably damaging |
Het |
Slc25a19 |
A |
T |
11: 115,507,418 (GRCm39) |
Y235N |
probably damaging |
Het |
Slc47a2 |
A |
G |
11: 61,233,486 (GRCm39) |
V40A |
probably benign |
Het |
Slurp2 |
C |
T |
15: 74,614,917 (GRCm39) |
V75I |
probably benign |
Het |
Smc1b |
A |
C |
15: 85,005,842 (GRCm39) |
M354R |
probably benign |
Het |
Spice1 |
C |
A |
16: 44,191,115 (GRCm39) |
A323E |
possibly damaging |
Het |
Sptbn2 |
T |
A |
19: 4,798,975 (GRCm39) |
V2015E |
probably damaging |
Het |
Sptlc2 |
A |
C |
12: 87,415,857 (GRCm39) |
F57V |
probably benign |
Het |
Srsf1 |
A |
G |
11: 87,938,705 (GRCm39) |
N14S |
possibly damaging |
Het |
Ssh2 |
T |
A |
11: 77,312,192 (GRCm39) |
D228E |
probably damaging |
Het |
Synj2 |
A |
G |
17: 6,088,390 (GRCm39) |
*1480W |
probably null |
Het |
Syt14 |
A |
T |
1: 192,613,231 (GRCm39) |
M523K |
probably damaging |
Het |
Tff3 |
A |
T |
17: 31,348,516 (GRCm39) |
V12E |
probably benign |
Het |
Tgm2 |
C |
A |
2: 157,969,262 (GRCm39) |
C371F |
probably damaging |
Het |
Tmem260 |
A |
C |
14: 48,711,501 (GRCm39) |
I197L |
probably benign |
Het |
Unc5a |
A |
G |
13: 55,152,747 (GRCm39) |
D887G |
possibly damaging |
Het |
Vstm4 |
G |
T |
14: 32,641,247 (GRCm39) |
A277S |
probably benign |
Het |
Wdtc1 |
A |
T |
4: 133,021,702 (GRCm39) |
|
probably null |
Het |
Zan |
A |
G |
5: 137,466,600 (GRCm39) |
F419S |
possibly damaging |
Het |
Zfp317 |
G |
A |
9: 19,558,584 (GRCm39) |
R266Q |
probably damaging |
Het |
Zfp931 |
T |
A |
2: 177,709,595 (GRCm39) |
T264S |
possibly damaging |
Het |
Zpld2 |
T |
C |
4: 133,920,350 (GRCm39) |
K605R |
probably damaging |
Het |
|
Other mutations in Plcb3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01092:Plcb3
|
APN |
19 |
6,932,690 (GRCm39) |
missense |
probably benign |
0.27 |
IGL01370:Plcb3
|
APN |
19 |
6,940,192 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01385:Plcb3
|
APN |
19 |
6,935,276 (GRCm39) |
missense |
probably benign |
|
IGL01511:Plcb3
|
APN |
19 |
6,933,211 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02182:Plcb3
|
APN |
19 |
6,946,988 (GRCm39) |
missense |
probably benign |
0.22 |
IGL02240:Plcb3
|
APN |
19 |
6,935,448 (GRCm39) |
splice site |
probably benign |
|
IGL02350:Plcb3
|
APN |
19 |
6,935,546 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02357:Plcb3
|
APN |
19 |
6,935,546 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02550:Plcb3
|
APN |
19 |
6,937,544 (GRCm39) |
nonsense |
probably null |
|
IGL02866:Plcb3
|
APN |
19 |
6,935,044 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03180:Plcb3
|
APN |
19 |
6,933,521 (GRCm39) |
missense |
probably benign |
0.44 |
IGL03327:Plcb3
|
APN |
19 |
6,932,420 (GRCm39) |
missense |
probably benign |
|
IGL03346:Plcb3
|
APN |
19 |
6,932,420 (GRCm39) |
missense |
probably benign |
|
Multifarious
|
UTSW |
19 |
6,932,071 (GRCm39) |
critical splice donor site |
probably null |
|
R0042:Plcb3
|
UTSW |
19 |
6,943,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R0125:Plcb3
|
UTSW |
19 |
6,936,276 (GRCm39) |
missense |
probably damaging |
1.00 |
R0240:Plcb3
|
UTSW |
19 |
6,940,363 (GRCm39) |
missense |
probably benign |
0.16 |
R0240:Plcb3
|
UTSW |
19 |
6,940,363 (GRCm39) |
missense |
probably benign |
0.16 |
R0724:Plcb3
|
UTSW |
19 |
6,940,760 (GRCm39) |
missense |
probably damaging |
1.00 |
R0781:Plcb3
|
UTSW |
19 |
6,939,281 (GRCm39) |
nonsense |
probably null |
|
R0945:Plcb3
|
UTSW |
19 |
6,932,246 (GRCm39) |
missense |
probably damaging |
1.00 |
R1110:Plcb3
|
UTSW |
19 |
6,939,281 (GRCm39) |
nonsense |
probably null |
|
R1414:Plcb3
|
UTSW |
19 |
6,940,385 (GRCm39) |
missense |
probably damaging |
1.00 |
R1454:Plcb3
|
UTSW |
19 |
6,932,414 (GRCm39) |
missense |
possibly damaging |
0.64 |
R1533:Plcb3
|
UTSW |
19 |
6,935,041 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1652:Plcb3
|
UTSW |
19 |
6,932,664 (GRCm39) |
missense |
probably benign |
0.00 |
R1795:Plcb3
|
UTSW |
19 |
6,933,381 (GRCm39) |
unclassified |
probably benign |
|
R1870:Plcb3
|
UTSW |
19 |
6,940,353 (GRCm39) |
missense |
probably benign |
0.04 |
R1934:Plcb3
|
UTSW |
19 |
6,941,977 (GRCm39) |
missense |
probably damaging |
1.00 |
R3980:Plcb3
|
UTSW |
19 |
6,943,803 (GRCm39) |
missense |
probably damaging |
1.00 |
R4397:Plcb3
|
UTSW |
19 |
6,943,193 (GRCm39) |
missense |
probably damaging |
0.96 |
R4533:Plcb3
|
UTSW |
19 |
6,933,640 (GRCm39) |
missense |
probably benign |
0.08 |
R4576:Plcb3
|
UTSW |
19 |
6,936,415 (GRCm39) |
splice site |
probably benign |
|
R4815:Plcb3
|
UTSW |
19 |
6,940,352 (GRCm39) |
missense |
possibly damaging |
0.59 |
R4903:Plcb3
|
UTSW |
19 |
6,933,211 (GRCm39) |
missense |
probably damaging |
0.99 |
R5093:Plcb3
|
UTSW |
19 |
6,943,578 (GRCm39) |
missense |
probably damaging |
1.00 |
R5555:Plcb3
|
UTSW |
19 |
6,943,587 (GRCm39) |
missense |
probably benign |
0.19 |
R5626:Plcb3
|
UTSW |
19 |
6,932,643 (GRCm39) |
missense |
probably benign |
0.24 |
R5661:Plcb3
|
UTSW |
19 |
6,940,588 (GRCm39) |
missense |
probably damaging |
1.00 |
R5713:Plcb3
|
UTSW |
19 |
6,935,060 (GRCm39) |
missense |
probably damaging |
0.99 |
R5741:Plcb3
|
UTSW |
19 |
6,931,790 (GRCm39) |
nonsense |
probably null |
|
R6025:Plcb3
|
UTSW |
19 |
6,933,547 (GRCm39) |
missense |
probably benign |
0.03 |
R6063:Plcb3
|
UTSW |
19 |
6,940,202 (GRCm39) |
missense |
possibly damaging |
0.69 |
R6155:Plcb3
|
UTSW |
19 |
6,943,533 (GRCm39) |
missense |
probably damaging |
1.00 |
R6157:Plcb3
|
UTSW |
19 |
6,943,533 (GRCm39) |
missense |
probably damaging |
1.00 |
R6178:Plcb3
|
UTSW |
19 |
6,932,071 (GRCm39) |
critical splice donor site |
probably null |
|
R7085:Plcb3
|
UTSW |
19 |
6,937,501 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7117:Plcb3
|
UTSW |
19 |
6,941,746 (GRCm39) |
missense |
probably damaging |
1.00 |
R7134:Plcb3
|
UTSW |
19 |
6,942,698 (GRCm39) |
missense |
probably damaging |
1.00 |
R7153:Plcb3
|
UTSW |
19 |
6,935,452 (GRCm39) |
critical splice donor site |
probably null |
|
R7316:Plcb3
|
UTSW |
19 |
6,943,753 (GRCm39) |
critical splice donor site |
probably null |
|
R7366:Plcb3
|
UTSW |
19 |
6,939,389 (GRCm39) |
missense |
probably benign |
|
R7399:Plcb3
|
UTSW |
19 |
6,940,235 (GRCm39) |
missense |
probably benign |
|
R7736:Plcb3
|
UTSW |
19 |
6,946,991 (GRCm39) |
missense |
probably benign |
0.00 |
R8057:Plcb3
|
UTSW |
19 |
6,936,267 (GRCm39) |
missense |
probably damaging |
0.99 |
R8057:Plcb3
|
UTSW |
19 |
6,932,463 (GRCm39) |
missense |
probably benign |
|
R8376:Plcb3
|
UTSW |
19 |
6,944,071 (GRCm39) |
missense |
probably damaging |
0.99 |
R9103:Plcb3
|
UTSW |
19 |
6,936,288 (GRCm39) |
missense |
probably benign |
0.06 |
R9292:Plcb3
|
UTSW |
19 |
6,942,042 (GRCm39) |
missense |
probably damaging |
1.00 |
R9366:Plcb3
|
UTSW |
19 |
6,937,658 (GRCm39) |
critical splice donor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- ATATCAGGGCTCCCAAGGTG -3'
(R):5'- CTAATCTGTGCTGCTCCAGG -3'
Sequencing Primer
(F):5'- TGTTGGATATGACGCAGGGACC -3'
(R):5'- CTCCAGGGAGAAGAAGGAACTCC -3'
|
Posted On |
2016-10-26 |