Incidental Mutation 'R0724:Plcb3'
| ID |
262020 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcb3
|
| Ensembl Gene |
ENSMUSG00000024960 |
| Gene Name |
phospholipase C, beta 3 |
| Synonyms |
|
| MMRRC Submission |
038906-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.671)
|
| Stock # |
R0724 (G1)
|
| Quality Score |
75 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
6931081-6951738 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 6940760 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 359
(R359C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025912
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025912]
|
| AlphaFold |
P51432 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025912
AA Change: R359C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025912
Gene: ENSMUSG00000024960
AA Change: R359C
| 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 |
0.9400 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.2%
|
| Validation Efficiency |
100% (62/62) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
A |
G |
5: 144,981,573 (GRCm39) |
E136G |
probably benign |
Het |
| Adgre4 |
T |
A |
17: 56,159,281 (GRCm39) |
S655R |
probably benign |
Het |
| Ak7 |
T |
A |
12: 105,676,513 (GRCm39) |
V71E |
probably benign |
Het |
| Ank2 |
C |
T |
3: 126,755,986 (GRCm39) |
R1077H |
probably damaging |
Het |
| Anxa3 |
A |
G |
5: 96,976,607 (GRCm39) |
T198A |
possibly damaging |
Het |
| Atp1a1 |
A |
T |
3: 101,499,755 (GRCm39) |
I109N |
possibly damaging |
Het |
| Camta1 |
A |
G |
4: 151,162,349 (GRCm39) |
I119T |
probably damaging |
Het |
| Carm1 |
A |
G |
9: 21,498,670 (GRCm39) |
Y504C |
probably damaging |
Het |
| Casp1 |
C |
T |
9: 5,303,077 (GRCm39) |
P177L |
probably benign |
Het |
| Ccdc122 |
C |
A |
14: 77,329,517 (GRCm39) |
|
probably benign |
Het |
| Ces1a |
A |
G |
8: 93,766,141 (GRCm39) |
S158P |
probably damaging |
Het |
| Ces3a |
T |
A |
8: 105,776,827 (GRCm39) |
D103E |
possibly damaging |
Het |
| Clstn1 |
A |
C |
4: 149,728,081 (GRCm39) |
D583A |
possibly damaging |
Het |
| Corin |
A |
G |
5: 72,490,138 (GRCm39) |
|
probably benign |
Het |
| Cryba1 |
T |
C |
11: 77,610,283 (GRCm39) |
D144G |
probably damaging |
Het |
| Cwf19l2 |
G |
T |
9: 3,421,377 (GRCm39) |
|
probably null |
Het |
| Dis3l |
T |
C |
9: 64,214,408 (GRCm39) |
T1027A |
possibly damaging |
Het |
| Dop1b |
A |
G |
16: 93,559,213 (GRCm39) |
E653G |
probably benign |
Het |
| Dst |
A |
G |
1: 34,227,758 (GRCm39) |
I1459V |
probably benign |
Het |
| Dyrk3 |
T |
C |
1: 131,057,877 (GRCm39) |
T64A |
probably benign |
Het |
| Emp2 |
C |
T |
16: 10,102,479 (GRCm39) |
C111Y |
probably benign |
Het |
| Enam |
A |
G |
5: 88,649,853 (GRCm39) |
Y454C |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,193,984 (GRCm39) |
C1328S |
probably benign |
Het |
| Gata3 |
T |
C |
2: 9,879,386 (GRCm39) |
T197A |
probably benign |
Het |
| Gm1043 |
A |
G |
5: 37,344,573 (GRCm39) |
T212A |
probably damaging |
Het |
| H2-Eb1 |
T |
C |
17: 34,534,006 (GRCm39) |
|
probably benign |
Het |
| Hand1 |
T |
C |
11: 57,722,506 (GRCm39) |
H36R |
probably damaging |
Het |
| Hmgcs2 |
C |
A |
3: 98,204,317 (GRCm39) |
Y239* |
probably null |
Het |
| Hoxc12 |
A |
G |
15: 102,845,490 (GRCm39) |
Y68C |
probably damaging |
Het |
| Inpp5a |
A |
G |
7: 139,096,579 (GRCm39) |
I143V |
probably benign |
Het |
| Klhdc2 |
C |
A |
12: 69,343,822 (GRCm39) |
F18L |
probably benign |
Het |
| Kpnb1 |
T |
C |
11: 97,069,130 (GRCm39) |
Y251C |
probably damaging |
Het |
| Lrch4 |
A |
T |
5: 137,635,570 (GRCm39) |
N315I |
probably damaging |
Het |
| Map3k10 |
A |
C |
7: 27,367,780 (GRCm39) |
V286G |
probably damaging |
Het |
| Myo7b |
G |
A |
18: 32,138,602 (GRCm39) |
|
probably benign |
Het |
| Nlrp2 |
G |
T |
7: 5,322,221 (GRCm39) |
L809I |
probably damaging |
Het |
| Oacyl |
T |
C |
18: 65,870,896 (GRCm39) |
|
probably benign |
Het |
| Or4q3 |
A |
G |
14: 50,583,374 (GRCm39) |
V175A |
possibly damaging |
Het |
| Paxbp1 |
T |
A |
16: 90,833,424 (GRCm39) |
D270V |
probably damaging |
Het |
| Pdia3 |
G |
A |
2: 121,262,858 (GRCm39) |
G275S |
probably damaging |
Het |
| Pira13 |
T |
C |
7: 3,819,871 (GRCm39) |
N564S |
possibly damaging |
Het |
| Plcxd3 |
G |
A |
15: 4,546,350 (GRCm39) |
S118N |
probably damaging |
Het |
| Ptpn14 |
T |
C |
1: 189,583,144 (GRCm39) |
S664P |
possibly damaging |
Het |
| Sirt1 |
T |
C |
10: 63,159,752 (GRCm39) |
I443V |
possibly damaging |
Het |
| Slc7a8 |
G |
A |
14: 54,972,643 (GRCm39) |
|
probably benign |
Het |
| Smim14 |
A |
G |
5: 65,610,682 (GRCm39) |
|
probably benign |
Het |
| Sost |
C |
T |
11: 101,857,744 (GRCm39) |
C19Y |
probably benign |
Het |
| Tcaf1 |
G |
T |
6: 42,652,301 (GRCm39) |
A727E |
probably damaging |
Het |
| Thoc1 |
T |
C |
18: 9,963,829 (GRCm39) |
L144P |
probably damaging |
Het |
| Tmem132b |
A |
T |
5: 125,860,485 (GRCm39) |
T577S |
possibly damaging |
Het |
| Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
| Tshr |
T |
C |
12: 91,505,060 (GRCm39) |
F666S |
probably damaging |
Het |
| Wdr1 |
A |
G |
5: 38,698,205 (GRCm39) |
V192A |
possibly damaging |
Het |
| Zfp697 |
T |
C |
3: 98,335,482 (GRCm39) |
W416R |
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 |
|
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 |
|
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'- TTGTCGAGAGGGTCAATGAGCAGC -3'
(R):5'- ATCCACACTGACTGGAGGAGTGAG -3'
Sequencing Primer
(F):5'- TCTAGAGATTCCCAGGGCAG -3'
(R):5'- AGAGACTAGTATTGCCCTGGAATTG -3'
|
| Posted On |
2015-02-04 |
Incidental Mutation