Incidental Mutation 'R6859:Plbd2'
| ID |
537801 |
| 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 |
044961-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R6859 (G1)
|
| Quality Score |
169.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
120621958-120641688 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 120641407 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 84
(F84L)
|
| 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 benign
Transcript: ENSMUST00000031597
AA Change: F84L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000031597
Gene: ENSMUSG00000029598
AA Change: F84L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
Pfam:Phospholip_B
|
62 |
591 |
2.9e-179 |
PFAM |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (42/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
T |
C |
16: 4,669,799 (GRCm39) |
V788A |
possibly damaging |
Het |
| Abca15 |
A |
T |
7: 120,002,217 (GRCm39) |
K1577* |
probably null |
Het |
| Arhgap12 |
T |
C |
18: 6,111,803 (GRCm39) |
E187G |
probably damaging |
Het |
| Arhgef10 |
T |
A |
8: 15,025,005 (GRCm39) |
Y398N |
probably damaging |
Het |
| Baz2b |
C |
T |
2: 59,731,874 (GRCm39) |
V2055I |
probably benign |
Het |
| Btnl4 |
T |
C |
17: 34,688,353 (GRCm39) |
D475G |
probably damaging |
Het |
| C1qtnf12 |
T |
A |
4: 156,050,070 (GRCm39) |
F190Y |
probably damaging |
Het |
| Cacul1 |
A |
G |
19: 60,522,683 (GRCm39) |
S284P |
probably damaging |
Het |
| Ccdc166 |
C |
A |
15: 75,853,820 (GRCm39) |
V87L |
possibly damaging |
Het |
| Ceacam13 |
C |
T |
7: 17,747,032 (GRCm39) |
P162S |
probably damaging |
Het |
| Cep250 |
T |
A |
2: 155,834,446 (GRCm39) |
S2124T |
probably benign |
Het |
| Chd5 |
T |
C |
4: 152,462,664 (GRCm39) |
S1372P |
probably damaging |
Het |
| Chil3 |
C |
A |
3: 106,067,730 (GRCm39) |
R145L |
probably benign |
Het |
| Cyp4f40 |
T |
C |
17: 32,894,923 (GRCm39) |
S454P |
probably benign |
Het |
| Defa3 |
T |
A |
8: 21,778,213 (GRCm39) |
C66S |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Glmp |
C |
A |
3: 88,235,349 (GRCm39) |
N260K |
probably benign |
Het |
| Gsap |
T |
A |
5: 21,486,016 (GRCm39) |
L653Q |
probably damaging |
Het |
| Il18rap |
T |
A |
1: 40,564,255 (GRCm39) |
Y124* |
probably null |
Het |
| Lao1 |
A |
C |
4: 118,820,948 (GRCm39) |
K58T |
probably damaging |
Het |
| Lepr |
T |
A |
4: 101,622,487 (GRCm39) |
|
probably null |
Het |
| Mrgpra3 |
G |
C |
7: 47,239,781 (GRCm39) |
I48M |
probably benign |
Het |
| Nck2 |
T |
G |
1: 43,593,511 (GRCm39) |
N239K |
probably benign |
Het |
| Optc |
A |
T |
1: 133,825,554 (GRCm39) |
V324E |
possibly damaging |
Het |
| Or12k7 |
A |
T |
2: 36,958,794 (GRCm39) |
Y159F |
probably damaging |
Het |
| Or4p8 |
A |
G |
2: 88,727,278 (GRCm39) |
I221T |
probably benign |
Het |
| Or51b6 |
G |
A |
7: 103,555,908 (GRCm39) |
W84* |
probably null |
Het |
| Otog |
T |
C |
7: 45,923,205 (GRCm39) |
S1027P |
probably damaging |
Het |
| Plxnb1 |
T |
C |
9: 108,935,838 (GRCm39) |
L110P |
probably damaging |
Het |
| Prnp |
T |
C |
2: 131,778,708 (GRCm39) |
V120A |
possibly damaging |
Het |
| Ptprh |
C |
A |
7: 4,552,370 (GRCm39) |
E965* |
probably null |
Het |
| Reln |
T |
C |
5: 22,239,568 (GRCm39) |
T900A |
probably damaging |
Het |
| Stt3a |
A |
G |
9: 36,646,682 (GRCm39) |
Y644H |
probably damaging |
Het |
| Sulf2 |
A |
G |
2: 165,929,039 (GRCm39) |
Y311H |
probably damaging |
Het |
| Tbc1d32 |
A |
T |
10: 56,056,626 (GRCm39) |
I438N |
probably damaging |
Het |
| Tbcd |
T |
C |
11: 121,387,937 (GRCm39) |
V356A |
possibly damaging |
Het |
| Tecta |
T |
C |
9: 42,303,425 (GRCm39) |
N69S |
probably damaging |
Het |
| Topaz1 |
T |
C |
9: 122,631,023 (GRCm39) |
V1618A |
probably benign |
Het |
| Usp48 |
C |
T |
4: 137,352,587 (GRCm39) |
T627I |
possibly damaging |
Het |
| Vcl |
T |
C |
14: 21,037,143 (GRCm39) |
V247A |
probably damaging |
Het |
| Vmn2r59 |
A |
G |
7: 41,693,277 (GRCm39) |
L441P |
probably damaging |
Het |
| Zfp869 |
C |
T |
8: 70,159,175 (GRCm39) |
G466D |
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 |
|
|
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 |
|
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'- GAGTTACTGAGTCAGCCACCAG -3'
(R):5'- AGAGCGCGAGTCCTTTAAGG -3'
Sequencing Primer
(F):5'- AGTCAGCCACCAGCCCTG -3'
(R):5'- AGTCCTTTAAGGCAGGCCC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation