Incidental Mutation 'IGL03094:Plbd2'
| ID |
418497 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Plbd2
|
| Ensembl Gene |
ENSMUSG00000029598 |
| Gene Name |
phospholipase B domain containing 2 |
| Synonyms |
p76, 1300012G16Rik, 66.3 kDa |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
IGL03094
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
120621958-120641688 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120624845 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 441
(N441S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031597
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031597]
[ENSMUST00000066540]
[ENSMUST00000201684]
|
| AlphaFold |
Q3TCN2 |
| PDB Structure |
Crystal structure of the lysosomal 66.3 kDa protein from mouse solved by S-SAD [X-RAY DIFFRACTION]
Two chain form of the 66.3 kDa protein at 1.8 Angstroem [X-RAY DIFFRACTION]
Two chain form of the 66.3 kDa protein from mouse lacking the linker peptide [X-RAY DIFFRACTION]
One chain form of the 66.3 kDa protein [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031597
AA Change: N441S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031597
Gene: ENSMUSG00000029598
AA Change: N441S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
Pfam:Phospholip_B
|
62 |
591 |
2.9e-179 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066540
|
| SMART Domains |
Protein: ENSMUSP00000064849
Gene: ENSMUSG00000029597
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PALP
|
5 |
304 |
1.5e-76 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131831
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151361
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201684
|
| SMART Domains |
Protein: ENSMUSP00000143838
Gene: ENSMUSG00000029597
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PALP
|
5 |
304 |
1.5e-76 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
C |
11: 110,074,938 (GRCm39) |
N1375S |
probably benign |
Het |
| Adamts15 |
A |
T |
9: 30,815,768 (GRCm39) |
|
probably benign |
Het |
| Ahnak |
G |
A |
19: 8,980,911 (GRCm39) |
V732M |
possibly damaging |
Het |
| Akr1c19 |
G |
A |
13: 4,286,184 (GRCm39) |
V61I |
probably benign |
Het |
| BC025920 |
C |
A |
10: 81,444,906 (GRCm39) |
R10S |
probably benign |
Het |
| Cdh11 |
T |
C |
8: 103,385,035 (GRCm39) |
I347V |
probably benign |
Het |
| Cyp11b2 |
A |
G |
15: 74,724,886 (GRCm39) |
|
probably null |
Het |
| Cyp4a31 |
T |
A |
4: 115,435,305 (GRCm39) |
|
probably benign |
Het |
| Emilin3 |
G |
A |
2: 160,750,649 (GRCm39) |
Q320* |
probably null |
Het |
| Glra3 |
C |
A |
8: 56,578,207 (GRCm39) |
H421Q |
probably benign |
Het |
| Gtf2f1 |
T |
C |
17: 57,314,049 (GRCm39) |
N145S |
probably damaging |
Het |
| Hsd17b12 |
A |
T |
2: 93,864,339 (GRCm39) |
V256E |
probably damaging |
Het |
| Ighv1-34 |
C |
T |
12: 114,814,958 (GRCm39) |
G68E |
probably damaging |
Het |
| Ipo5 |
T |
C |
14: 121,181,089 (GRCm39) |
|
probably benign |
Het |
| Knop1 |
T |
A |
7: 118,452,374 (GRCm39) |
D63V |
possibly damaging |
Het |
| Krt39 |
T |
C |
11: 99,411,628 (GRCm39) |
|
probably benign |
Het |
| Ldhb |
T |
C |
6: 142,451,253 (GRCm39) |
K5R |
probably benign |
Het |
| Loxhd1 |
A |
T |
18: 77,518,809 (GRCm39) |
I1872F |
possibly damaging |
Het |
| Lrfn5 |
A |
G |
12: 61,886,532 (GRCm39) |
N107D |
probably benign |
Het |
| Mks1 |
A |
G |
11: 87,746,291 (GRCm39) |
|
probably benign |
Het |
| Nup93 |
C |
T |
8: 95,023,130 (GRCm39) |
T236I |
probably benign |
Het |
| Olig3 |
T |
C |
10: 19,232,878 (GRCm39) |
S168P |
probably benign |
Het |
| Or1i2 |
A |
G |
10: 78,447,953 (GRCm39) |
I174T |
possibly damaging |
Het |
| Pcna |
C |
T |
2: 132,093,673 (GRCm39) |
E109K |
probably benign |
Het |
| Per3 |
A |
C |
4: 151,093,755 (GRCm39) |
I1020R |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,075,519 (GRCm39) |
S398P |
probably damaging |
Het |
| Ppm1m |
T |
G |
9: 106,073,610 (GRCm39) |
K314T |
probably damaging |
Het |
| Prmt2 |
T |
A |
10: 76,046,224 (GRCm39) |
|
probably benign |
Het |
| Rbm19 |
T |
C |
5: 120,261,023 (GRCm39) |
S216P |
probably damaging |
Het |
| Sart1 |
A |
G |
19: 5,434,109 (GRCm39) |
|
probably benign |
Het |
| Tmem225 |
A |
T |
9: 40,059,682 (GRCm39) |
I21L |
possibly damaging |
Het |
| Tnnt2 |
T |
C |
1: 135,777,200 (GRCm39) |
|
probably null |
Het |
| Trappc10 |
A |
T |
10: 78,064,754 (GRCm39) |
|
probably benign |
Het |
| Trip13 |
A |
G |
13: 74,081,075 (GRCm39) |
L97P |
probably benign |
Het |
| Zmat2 |
T |
G |
18: 36,929,119 (GRCm39) |
V89G |
probably damaging |
Het |
|
| Other mutations in Plbd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00555:Plbd2
|
APN |
5 |
120,623,875 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL01635:Plbd2
|
APN |
5 |
120,637,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02017:Plbd2
|
APN |
5 |
120,626,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02040:Plbd2
|
APN |
5 |
120,625,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03124:Plbd2
|
APN |
5 |
120,631,142 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0077:Plbd2
|
UTSW |
5 |
120,624,104 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0087:Plbd2
|
UTSW |
5 |
120,632,550 (GRCm39) |
nonsense |
probably null |
|
|
R0294:Plbd2
|
UTSW |
5 |
120,625,514 (GRCm39) |
splice site |
probably null |
|
|
R1682:Plbd2
|
UTSW |
5 |
120,623,849 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1818:Plbd2
|
UTSW |
5 |
120,625,574 (GRCm39) |
splice site |
probably null |
|
|
R3796:Plbd2
|
UTSW |
5 |
120,630,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4935:Plbd2
|
UTSW |
5 |
120,624,786 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5082:Plbd2
|
UTSW |
5 |
120,629,249 (GRCm39) |
nonsense |
probably null |
|
|
R5420:Plbd2
|
UTSW |
5 |
120,632,547 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5441:Plbd2
|
UTSW |
5 |
120,637,147 (GRCm39) |
missense |
probably benign |
|
|
R5582:Plbd2
|
UTSW |
5 |
120,631,171 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5643:Plbd2
|
UTSW |
5 |
120,631,231 (GRCm39) |
splice site |
probably null |
|
|
R6831:Plbd2
|
UTSW |
5 |
120,631,131 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6859:Plbd2
|
UTSW |
5 |
120,641,407 (GRCm39) |
missense |
probably benign |
|
|
R7343:Plbd2
|
UTSW |
5 |
120,631,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7436:Plbd2
|
UTSW |
5 |
120,624,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7779:Plbd2
|
UTSW |
5 |
120,625,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7789:Plbd2
|
UTSW |
5 |
120,623,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8237:Plbd2
|
UTSW |
5 |
120,637,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8862:Plbd2
|
UTSW |
5 |
120,624,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8875:Plbd2
|
UTSW |
5 |
120,637,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8920:Plbd2
|
UTSW |
5 |
120,630,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9235:Plbd2
|
UTSW |
5 |
120,626,554 (GRCm39) |
missense |
probably benign |
|
|
R9475:Plbd2
|
UTSW |
5 |
120,632,445 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Plbd2
|
UTSW |
5 |
120,641,664 (GRCm39) |
start gained |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation