Incidental Mutation 'R3796:Plbd2'
ID |
272758 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plbd2
|
Ensembl Gene |
ENSMUSG00000029598 |
Gene Name |
phospholipase B domain containing 2 |
Synonyms |
p76, 1300012G16Rik, 66.3 kDa |
MMRRC Submission |
040757-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
R3796 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
120621958-120641688 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 120630933 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 224
(I224N)
|
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: I224N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000031597 Gene: ENSMUSG00000029598 AA Change: I224N
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
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
100% (40/40) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts17 |
A |
G |
7: 66,489,662 (GRCm39) |
|
probably null |
Het |
Alpk3 |
C |
A |
7: 80,742,501 (GRCm39) |
P773T |
probably benign |
Het |
Alppl2 |
A |
G |
1: 87,016,076 (GRCm39) |
|
probably null |
Het |
Armh3 |
A |
G |
19: 45,910,049 (GRCm39) |
|
probably benign |
Het |
Basp1 |
C |
A |
15: 25,364,398 (GRCm39) |
|
probably benign |
Het |
Clec14a |
G |
A |
12: 58,314,695 (GRCm39) |
A309V |
probably benign |
Het |
Clk2 |
A |
G |
3: 89,082,996 (GRCm39) |
N424S |
probably benign |
Het |
Cops7a |
C |
T |
6: 124,936,795 (GRCm39) |
R252H |
probably damaging |
Het |
Csmd2 |
C |
T |
4: 128,411,388 (GRCm39) |
P2469S |
probably benign |
Het |
Cwf19l1 |
A |
G |
19: 44,103,006 (GRCm39) |
V403A |
probably damaging |
Het |
Dnajc16 |
G |
T |
4: 141,495,048 (GRCm39) |
D521E |
probably benign |
Het |
Dnm2 |
T |
C |
9: 21,416,783 (GRCm39) |
V772A |
probably benign |
Het |
Dst |
G |
T |
1: 34,220,996 (GRCm39) |
V2267F |
probably benign |
Het |
Eif3d |
A |
G |
15: 77,852,769 (GRCm39) |
F4S |
probably damaging |
Het |
Fgfr1 |
G |
A |
8: 26,062,453 (GRCm39) |
D663N |
probably damaging |
Het |
Hmcn1 |
A |
G |
1: 150,462,169 (GRCm39) |
Y5170H |
probably damaging |
Het |
Kcna2 |
T |
A |
3: 107,012,906 (GRCm39) |
L496I |
probably benign |
Het |
Krt8 |
T |
C |
15: 101,907,877 (GRCm39) |
I233V |
probably benign |
Het |
Mfap1b |
A |
G |
2: 121,304,386 (GRCm39) |
V3A |
probably benign |
Het |
Phrf1 |
C |
T |
7: 140,839,831 (GRCm39) |
R243* |
probably null |
Het |
Rab19 |
T |
C |
6: 39,360,975 (GRCm39) |
V41A |
probably benign |
Het |
Rrm1 |
T |
A |
7: 102,114,910 (GRCm39) |
|
probably null |
Het |
Sacs |
T |
C |
14: 61,443,570 (GRCm39) |
V1872A |
possibly damaging |
Het |
Setd2 |
T |
C |
9: 110,378,639 (GRCm39) |
V818A |
probably benign |
Het |
Shprh |
C |
T |
10: 11,054,501 (GRCm39) |
L1037F |
possibly damaging |
Het |
Slc24a3 |
A |
G |
2: 145,458,601 (GRCm39) |
D527G |
probably damaging |
Het |
Slc27a6 |
T |
C |
18: 58,731,823 (GRCm39) |
|
probably benign |
Het |
Slc35g3 |
A |
G |
11: 69,651,743 (GRCm39) |
F103L |
probably benign |
Het |
Slc5a1 |
A |
G |
5: 33,309,996 (GRCm39) |
D408G |
probably damaging |
Het |
Spag6l |
A |
T |
16: 16,580,916 (GRCm39) |
I477N |
probably damaging |
Het |
Srgap1 |
A |
G |
10: 121,883,037 (GRCm39) |
V21A |
probably benign |
Het |
Trim7 |
A |
G |
11: 48,736,497 (GRCm39) |
|
probably null |
Het |
Trpa1 |
T |
C |
1: 14,963,488 (GRCm39) |
N578S |
possibly damaging |
Het |
Xdh |
T |
C |
17: 74,214,653 (GRCm39) |
E764G |
probably damaging |
Het |
Zfp518a |
G |
T |
19: 40,903,754 (GRCm39) |
V1228F |
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 |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AACTGCAGCCTGTACTTCTTG -3'
(R):5'- GGAGGTTCACCATCAAACCCTTG -3'
Sequencing Primer
(F):5'- GCCTGTACTTCTTGATGATGCGTAAC -3'
(R):5'- GTGACATGGCGCAAAGTA -3'
|
Posted On |
2015-03-25 |