Incidental Mutation 'R9292:Plcb3'
| ID |
704366 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcb3
|
| Ensembl Gene |
ENSMUSG00000024960 |
| Gene Name |
phospholipase C, beta 3 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.671)
|
| Stock # |
R9292 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
6931081-6951738 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 6942042 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 263
(L263Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025912
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025912]
|
| AlphaFold |
P51432 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025912
AA Change: L263Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025912
Gene: ENSMUSG00000024960
AA Change: L263Q
| 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 |
|
| Meta Mutation Damage Score |
0.9078 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (58/58) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
C |
T |
5: 8,862,843 (GRCm39) |
T175I |
probably benign |
Het |
| Acat3 |
T |
C |
17: 13,146,255 (GRCm39) |
T243A |
probably benign |
Het |
| Aebp1 |
C |
A |
11: 5,815,260 (GRCm39) |
P264Q |
possibly damaging |
Het |
| Aldh1l1 |
T |
C |
6: 90,568,867 (GRCm39) |
F723L |
probably damaging |
Het |
| Atp13a4 |
T |
A |
16: 29,241,500 (GRCm39) |
I723F |
|
Het |
| Bop1 |
T |
C |
15: 76,351,031 (GRCm39) |
T97A |
probably benign |
Het |
| Casq1 |
T |
C |
1: 172,043,114 (GRCm39) |
Y194C |
probably damaging |
Het |
| Cep250 |
G |
A |
2: 155,832,688 (GRCm39) |
E1538K |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,585,805 (GRCm39) |
V1218E |
probably benign |
Het |
| Coq10b |
T |
A |
1: 55,110,868 (GRCm39) |
M212K |
probably damaging |
Het |
| Dchs1 |
T |
C |
7: 105,403,120 (GRCm39) |
T3141A |
probably damaging |
Het |
| Dnajc10 |
A |
G |
2: 80,176,916 (GRCm39) |
T624A |
probably benign |
Het |
| Dock8 |
A |
G |
19: 25,160,995 (GRCm39) |
|
probably benign |
Het |
| Dsg1c |
T |
A |
18: 20,416,775 (GRCm39) |
V892E |
probably damaging |
Het |
| Eif4g3 |
A |
G |
4: 137,921,382 (GRCm39) |
R1370G |
possibly damaging |
Het |
| Elmo1 |
T |
G |
13: 20,784,429 (GRCm39) |
|
probably null |
Het |
| Erc2 |
T |
A |
14: 27,498,799 (GRCm39) |
I225N |
probably damaging |
Het |
| Ermp1 |
C |
A |
19: 29,606,049 (GRCm39) |
V422L |
probably benign |
Het |
| Fam124b |
T |
A |
1: 80,191,221 (GRCm39) |
H54L |
probably benign |
Het |
| Gabbr1 |
T |
G |
17: 37,366,784 (GRCm39) |
I336S |
possibly damaging |
Het |
| Galk2 |
T |
C |
2: 125,817,218 (GRCm39) |
Y336H |
probably damaging |
Het |
| Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
| Grm4 |
A |
G |
17: 27,692,037 (GRCm39) |
F194S |
probably damaging |
Het |
| Gtf2a1 |
G |
A |
12: 91,534,964 (GRCm39) |
Q189* |
probably null |
Het |
| Gtf3c1 |
T |
C |
7: 125,273,563 (GRCm39) |
|
probably benign |
Het |
| Hspa2 |
A |
G |
12: 76,452,047 (GRCm39) |
E247G |
probably damaging |
Het |
| Lpar1 |
T |
C |
4: 58,486,558 (GRCm39) |
R238G |
probably benign |
Het |
| Ltbp1 |
C |
A |
17: 75,583,436 (GRCm39) |
S412Y |
probably damaging |
Het |
| Nup210 |
A |
C |
6: 91,051,235 (GRCm39) |
S383A |
possibly damaging |
Het |
| Or10j3 |
C |
T |
1: 173,031,099 (GRCm39) |
P59S |
probably damaging |
Het |
| Or11g2 |
T |
C |
14: 50,856,513 (GRCm39) |
V278A |
possibly damaging |
Het |
| Or8b51 |
T |
A |
9: 38,569,071 (GRCm39) |
N206Y |
probably damaging |
Het |
| Pah |
T |
A |
10: 87,403,218 (GRCm39) |
Y198N |
probably damaging |
Het |
| Pcdhga4 |
A |
T |
18: 37,819,713 (GRCm39) |
I421L |
probably benign |
Het |
| Pde6b |
T |
C |
5: 108,536,751 (GRCm39) |
I149T |
probably benign |
Het |
| Peli3 |
G |
A |
19: 4,988,117 (GRCm39) |
P81L |
possibly damaging |
Het |
| Pfdn5 |
T |
C |
15: 102,234,883 (GRCm39) |
S30P |
possibly damaging |
Het |
| Pld3 |
T |
C |
7: 27,238,879 (GRCm39) |
M190V |
probably benign |
Het |
| Rab6a |
A |
G |
7: 100,285,963 (GRCm39) |
E186G |
probably benign |
Het |
| Ralyl |
T |
A |
3: 14,172,312 (GRCm39) |
D60E |
probably benign |
Het |
| Rtl1 |
G |
A |
12: 109,556,673 (GRCm39) |
A1722V |
possibly damaging |
Het |
| Scarf1 |
T |
C |
11: 75,406,006 (GRCm39) |
Y97H |
probably damaging |
Het |
| Sf3a2 |
T |
A |
10: 80,640,560 (GRCm39) |
V457E |
unknown |
Het |
| Sh2d4b |
C |
G |
14: 40,537,914 (GRCm39) |
E403Q |
probably damaging |
Het |
| Slc12a7 |
A |
G |
13: 73,932,707 (GRCm39) |
E65G |
possibly damaging |
Het |
| Spink5 |
T |
C |
18: 44,148,075 (GRCm39) |
V905A |
possibly damaging |
Het |
| Spred1 |
T |
C |
2: 117,005,832 (GRCm39) |
F198S |
probably benign |
Het |
| St18 |
C |
A |
1: 6,898,106 (GRCm39) |
T636K |
probably benign |
Het |
| Stag3 |
T |
A |
5: 138,299,712 (GRCm39) |
D874E |
probably benign |
Het |
| Suco |
T |
C |
1: 161,671,574 (GRCm39) |
T502A |
probably damaging |
Het |
| Swt1 |
T |
C |
1: 151,278,787 (GRCm39) |
I457V |
probably benign |
Het |
| Syne2 |
G |
T |
12: 75,997,823 (GRCm39) |
C2266F |
probably benign |
Het |
| Tcirg1 |
T |
C |
19: 3,947,840 (GRCm39) |
N532D |
probably damaging |
Het |
| Tfdp1 |
T |
A |
8: 13,420,580 (GRCm39) |
N136K |
probably benign |
Het |
| Tmem245 |
T |
C |
4: 56,926,173 (GRCm39) |
|
probably benign |
Het |
| Tmem245 |
T |
C |
4: 56,937,979 (GRCm39) |
I190V |
probably benign |
Het |
| Trp53bp1 |
C |
T |
2: 121,046,177 (GRCm39) |
V1208M |
probably damaging |
Het |
| Tulp1 |
T |
A |
17: 28,582,738 (GRCm39) |
K137* |
probably null |
Het |
| Zfp534 |
A |
T |
4: 147,759,095 (GRCm39) |
C525S |
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 |
|
R5593:Plcb3
|
UTSW |
19 |
6,932,117 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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 |
|
R9366:Plcb3
|
UTSW |
19 |
6,937,658 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAGGCAGGATACCATTCTCCTC -3'
(R):5'- TGTGACCGCTGAAGTTAGG -3'
Sequencing Primer
(F):5'- TCCCAGGTAGCGGCTGAAG -3'
(R):5'- CGCTGAAGTTAGGCGCAG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation