Incidental Mutation 'IGL01635:Plbd2'
| ID |
92970 |
| 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: 0.062)
|
| Stock # |
IGL01635
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
120621958-120641688 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120637114 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 116
(D116G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031597
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031597]
|
| 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: D116G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031597
Gene: ENSMUSG00000029598
AA Change: D116G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
Pfam:Phospholip_B
|
62 |
591 |
2.9e-179 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131831
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151361
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
A |
G |
16: 8,431,910 (GRCm39) |
I396V |
probably benign |
Het |
| Bag2 |
T |
A |
1: 33,786,013 (GRCm39) |
N103I |
possibly damaging |
Het |
| Cfap95 |
T |
C |
19: 23,536,379 (GRCm39) |
Y176C |
probably damaging |
Het |
| Chd1 |
T |
C |
17: 17,598,858 (GRCm39) |
S107P |
probably damaging |
Het |
| Chd3 |
A |
T |
11: 69,252,076 (GRCm39) |
|
probably benign |
Het |
| Cytip |
T |
C |
2: 58,038,243 (GRCm39) |
E106G |
probably damaging |
Het |
| Dcp1b |
T |
A |
6: 119,183,498 (GRCm39) |
I195N |
probably damaging |
Het |
| Ddhd1 |
C |
A |
14: 45,867,037 (GRCm39) |
V322F |
probably null |
Het |
| Esrrg |
A |
T |
1: 187,930,797 (GRCm39) |
D296V |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,035,427 (GRCm39) |
K1867R |
probably benign |
Het |
| Gm10717 |
C |
A |
9: 3,025,511 (GRCm39) |
A32D |
probably damaging |
Het |
| Gm10717 |
C |
A |
9: 3,025,506 (GRCm39) |
F30L |
possibly damaging |
Het |
| Gstt1 |
G |
T |
10: 75,629,951 (GRCm39) |
T54K |
probably damaging |
Het |
| Ighmbp2 |
C |
T |
19: 3,317,265 (GRCm39) |
V536I |
possibly damaging |
Het |
| Mphosph8 |
A |
T |
14: 56,910,003 (GRCm39) |
R119W |
probably damaging |
Het |
| Negr1 |
A |
G |
3: 156,267,929 (GRCm39) |
D33G |
probably benign |
Het |
| Or2l13b |
A |
G |
16: 19,348,845 (GRCm39) |
V275A |
probably benign |
Het |
| Or7d10 |
A |
T |
9: 19,831,780 (GRCm39) |
I92L |
probably damaging |
Het |
| Pold1 |
A |
T |
7: 44,185,401 (GRCm39) |
V733E |
probably damaging |
Het |
| Prorsd1 |
T |
A |
11: 29,463,467 (GRCm39) |
K98N |
probably benign |
Het |
| Rasal2 |
G |
T |
1: 156,991,394 (GRCm39) |
L611I |
probably damaging |
Het |
| Rffl |
G |
A |
11: 82,703,378 (GRCm39) |
R147C |
probably benign |
Het |
| Rpl27rt |
A |
T |
18: 34,870,795 (GRCm39) |
M110L |
probably benign |
Het |
| Sdad1 |
A |
G |
5: 92,445,019 (GRCm39) |
M315T |
probably damaging |
Het |
| Shprh |
T |
A |
10: 11,045,763 (GRCm39) |
Y861* |
probably null |
Het |
| Six4 |
G |
A |
12: 73,155,971 (GRCm39) |
A324V |
probably benign |
Het |
| Stab2 |
T |
C |
10: 86,816,992 (GRCm39) |
D135G |
probably benign |
Het |
| Tada3 |
T |
C |
6: 113,352,973 (GRCm39) |
H12R |
probably benign |
Het |
| Zap70 |
A |
G |
1: 36,810,238 (GRCm39) |
D116G |
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 |
|
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 |
|
IGL03094:Plbd2
|
APN |
5 |
120,624,845 (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 |
2013-12-09 |
Incidental Mutation