Incidental Mutation 'R7736:Plcb3'
| ID |
596293 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcb3
|
| Ensembl Gene |
ENSMUSG00000024960 |
| Gene Name |
phospholipase C, beta 3 |
| Synonyms |
|
| MMRRC Submission |
045792-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.702)
|
| Stock # |
R7736 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
6931081-6951738 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 6946991 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 8
(V8A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025912
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025912]
|
| AlphaFold |
P51432 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025912
AA Change: V8A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000025912
Gene: ENSMUSG00000024960
AA Change: V8A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
G |
1: 71,359,123 (GRCm39) |
D561A |
probably benign |
Het |
| Adgrg1 |
T |
C |
8: 95,731,965 (GRCm39) |
F204S |
probably benign |
Het |
| Apoa2 |
T |
C |
1: 171,053,741 (GRCm39) |
L72P |
probably damaging |
Het |
| Arhgef10 |
A |
T |
8: 15,030,583 (GRCm39) |
K987* |
probably null |
Het |
| Arrb1 |
A |
G |
7: 99,188,981 (GRCm39) |
D9G |
unknown |
Het |
| Asph |
A |
G |
4: 9,621,930 (GRCm39) |
S192P |
possibly damaging |
Het |
| Bcas1 |
G |
A |
2: 170,229,084 (GRCm39) |
T309M |
possibly damaging |
Het |
| Bcat2 |
C |
T |
7: 45,234,617 (GRCm39) |
T166M |
possibly damaging |
Het |
| Bmp5 |
A |
T |
9: 75,801,072 (GRCm39) |
I401L |
probably damaging |
Het |
| Bpifb9b |
G |
A |
2: 154,154,025 (GRCm39) |
G261R |
probably benign |
Het |
| Cd53 |
T |
A |
3: 106,675,252 (GRCm39) |
Y106F |
probably benign |
Het |
| Cdhr3 |
T |
A |
12: 33,103,519 (GRCm39) |
D366V |
probably benign |
Het |
| Ceacam10 |
G |
C |
7: 24,480,636 (GRCm39) |
V256L |
unknown |
Het |
| Cilp2 |
A |
G |
8: 70,334,071 (GRCm39) |
Y976H |
probably damaging |
Het |
| Cklf |
A |
G |
8: 104,988,187 (GRCm39) |
T107A |
possibly damaging |
Het |
| Dhx16 |
T |
A |
17: 36,192,568 (GRCm39) |
W167R |
possibly damaging |
Het |
| Dkk2 |
T |
G |
3: 131,883,775 (GRCm39) |
L225R |
probably damaging |
Het |
| Dmbt1 |
A |
T |
7: 130,718,625 (GRCm39) |
D1782V |
unknown |
Het |
| Ebag9 |
A |
T |
15: 44,491,800 (GRCm39) |
D64V |
probably damaging |
Het |
| Eif3j2 |
T |
C |
18: 43,610,382 (GRCm39) |
N144D |
possibly damaging |
Het |
| Elp1 |
T |
C |
4: 56,776,920 (GRCm39) |
T626A |
possibly damaging |
Het |
| Foxk2 |
A |
T |
11: 121,190,473 (GRCm39) |
Q538L |
possibly damaging |
Het |
| Fpgt |
T |
G |
3: 154,792,747 (GRCm39) |
I427L |
probably benign |
Het |
| Ganc |
A |
T |
2: 120,264,295 (GRCm39) |
N416I |
possibly damaging |
Het |
| Gata6 |
A |
G |
18: 11,084,379 (GRCm39) |
Y556C |
probably damaging |
Het |
| Gga2 |
A |
T |
7: 121,589,747 (GRCm39) |
V534E |
probably damaging |
Het |
| Gm7324 |
T |
A |
14: 43,952,256 (GRCm39) |
S300T |
possibly damaging |
Het |
| Gprc6a |
A |
C |
10: 51,491,549 (GRCm39) |
N733K |
possibly damaging |
Het |
| Hivep3 |
C |
T |
4: 119,952,740 (GRCm39) |
T352I |
possibly damaging |
Het |
| Ift88 |
T |
G |
14: 57,683,121 (GRCm39) |
V266G |
probably benign |
Het |
| Ip6k1 |
G |
T |
9: 107,922,891 (GRCm39) |
G341V |
probably damaging |
Het |
| Itga3 |
G |
T |
11: 94,967,029 (GRCm39) |
A45E |
probably damaging |
Het |
| Kctd14 |
T |
A |
7: 97,107,147 (GRCm39) |
L134Q |
probably damaging |
Het |
| Lats1 |
C |
A |
10: 7,578,128 (GRCm39) |
N417K |
probably damaging |
Het |
| Lrrc37a |
T |
C |
11: 103,388,285 (GRCm39) |
H2380R |
unknown |
Het |
| Lrrc4c |
A |
G |
2: 97,460,705 (GRCm39) |
T444A |
probably benign |
Het |
| M1ap |
T |
C |
6: 82,982,565 (GRCm39) |
I283T |
probably benign |
Het |
| Mapre2 |
T |
C |
18: 24,011,012 (GRCm39) |
S207P |
probably benign |
Het |
| Moxd1 |
T |
C |
10: 24,158,608 (GRCm39) |
F421L |
probably damaging |
Het |
| Nos2 |
T |
A |
11: 78,813,192 (GRCm39) |
C33* |
probably null |
Het |
| Or14j4 |
A |
T |
17: 37,921,303 (GRCm39) |
L113H |
probably damaging |
Het |
| Or1j16 |
A |
T |
2: 36,530,197 (GRCm39) |
I49F |
probably damaging |
Het |
| Or5g26 |
T |
C |
2: 85,494,758 (GRCm39) |
T7A |
probably damaging |
Het |
| Otud4 |
T |
C |
8: 80,382,394 (GRCm39) |
I201T |
possibly damaging |
Het |
| Pank4 |
T |
C |
4: 155,054,204 (GRCm39) |
Y128H |
probably benign |
Het |
| Phf11 |
C |
T |
14: 59,488,594 (GRCm39) |
D68N |
probably benign |
Het |
| Pitpnm2 |
A |
G |
5: 124,261,093 (GRCm39) |
V1027A |
possibly damaging |
Het |
| Por |
A |
G |
5: 135,759,976 (GRCm39) |
E221G |
probably damaging |
Het |
| Prokr2 |
A |
T |
2: 132,223,500 (GRCm39) |
L14* |
probably null |
Het |
| Ptgis |
A |
G |
2: 167,033,891 (GRCm39) |
F459S |
unknown |
Het |
| Ptpru |
T |
C |
4: 131,515,693 (GRCm39) |
E887G |
probably damaging |
Het |
| Qrich2 |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
11: 116,348,367 (GRCm39) |
|
probably benign |
Het |
| Slc18a1 |
A |
G |
8: 69,518,206 (GRCm39) |
|
probably null |
Het |
| Slc27a3 |
A |
G |
3: 90,296,740 (GRCm39) |
S120P |
probably benign |
Het |
| Slc2a12 |
T |
A |
10: 22,540,717 (GRCm39) |
Y191N |
probably damaging |
Het |
| Snx29 |
T |
A |
16: 11,185,588 (GRCm39) |
M57K |
probably benign |
Het |
| Syncrip |
A |
G |
9: 88,343,721 (GRCm39) |
|
probably null |
Het |
| Taar4 |
T |
A |
10: 23,836,897 (GRCm39) |
V169E |
probably damaging |
Het |
| Tas1r1 |
C |
T |
4: 152,116,923 (GRCm39) |
G237D |
probably benign |
Het |
| Tle1 |
T |
C |
4: 72,117,571 (GRCm39) |
K30E |
probably damaging |
Het |
| Tmem131l |
A |
T |
3: 83,847,875 (GRCm39) |
L330Q |
probably damaging |
Het |
| Tmem67 |
A |
G |
4: 12,053,455 (GRCm39) |
F698L |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,739,574 (GRCm39) |
Q3701L |
unknown |
Het |
| Vmn2r17 |
G |
A |
5: 109,600,757 (GRCm39) |
R685K |
probably benign |
Het |
| Ylpm1 |
C |
A |
12: 85,059,757 (GRCm39) |
A321E |
unknown |
Het |
| Zdbf2 |
T |
A |
1: 63,347,166 (GRCm39) |
Y1848* |
probably null |
Het |
| Zfand2b |
T |
A |
1: 75,146,176 (GRCm39) |
N61K |
probably null |
Het |
| Zfp867 |
C |
T |
11: 59,354,016 (GRCm39) |
A438T |
probably damaging |
Het |
| Zkscan14 |
G |
A |
5: 145,132,319 (GRCm39) |
T404I |
probably benign |
Het |
| Zrsr2-ps1 |
C |
T |
11: 22,923,510 (GRCm39) |
Q95* |
probably null |
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 |
|
|
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'- AGTTTCCGGAGTGCAACAAG -3'
(R):5'- ATCATCCCTTTGGCTGCAG -3'
Sequencing Primer
(F):5'- GGTGGTCAGGCAACACTG -3'
(R):5'- CTTTGGCTGCAGTCGCC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation