Incidental Mutation 'R4806:Plb1'
| ID |
370667 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plb1
|
| Ensembl Gene |
ENSMUSG00000029134 |
| Gene Name |
phospholipase B1 |
| Synonyms |
4632413E21Rik, 4930433E17Rik, 4930539A06Rik |
| MMRRC Submission |
042425-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R4806 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
32390035-32521700 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 32447196 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 321
(G321D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144040
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101376]
[ENSMUST00000202201]
[ENSMUST00000202220]
|
| AlphaFold |
Q3TTY0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101376
AA Change: G321D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098927
Gene: ENSMUSG00000029134
AA Change: G321D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
57 |
69 |
N/A |
INTRINSIC |
|
Pfam:Lipase_GDSL
|
398 |
672 |
4e-20 |
PFAM |
|
Pfam:Lipase_GDSL
|
745 |
1019 |
1.7e-17 |
PFAM |
|
Pfam:Lipase_GDSL
|
1101 |
1367 |
4.6e-15 |
PFAM |
|
transmembrane domain
|
1420 |
1442 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201313
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202201
AA Change: G321D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144401
Gene: ENSMUSG00000029134
AA Change: G321D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
57 |
69 |
N/A |
INTRINSIC |
|
Pfam:Lipase_GDSL
|
398 |
672 |
1.3e-20 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202220
AA Change: G321D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144040
Gene: ENSMUSG00000029134
AA Change: G321D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
57 |
69 |
N/A |
INTRINSIC |
|
Pfam:Lipase_GDSL
|
398 |
672 |
4e-20 |
PFAM |
|
Pfam:Lipase_GDSL
|
745 |
1019 |
1.7e-17 |
PFAM |
|
Pfam:Lipase_GDSL
|
1101 |
1367 |
4.6e-15 |
PFAM |
|
transmembrane domain
|
1420 |
1442 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202886
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.5%
|
| Validation Efficiency |
100% (66/66) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane-associated phospholipase that displays lysophospholipase and phospholipase A2 activities through removal of sn-1 and sn-2 fatty acids of glycerophospholipids. In addition, it displays lipase and retinyl ester hydrolase activities. The encoded protein is highly conserved and is composed of a large, glycosylated extracellular domain composed of four tandem homologous domains, followed by a hydrophobic segment that anchors the enzyme to the membrane and a short C-terminal cytoplasmic tail. This gene has been identified as a candidate rheumatoid arthritis risk gene. [provided by RefSeq, Jul 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
A |
G |
7: 27,265,070 (GRCm39) |
|
probably null |
Het |
| 2410137M14Rik |
T |
A |
17: 37,289,746 (GRCm39) |
H28L |
probably benign |
Het |
| 4930562C15Rik |
T |
C |
16: 4,667,536 (GRCm39) |
F309S |
unknown |
Het |
| Acd |
A |
G |
8: 106,424,922 (GRCm39) |
V406A |
possibly damaging |
Het |
| Acin1 |
A |
T |
14: 54,916,685 (GRCm39) |
|
probably benign |
Het |
| Agbl4 |
T |
C |
4: 110,812,834 (GRCm39) |
V118A |
probably damaging |
Het |
| Arhgap5 |
A |
G |
12: 52,565,486 (GRCm39) |
D819G |
probably damaging |
Het |
| BC049715 |
A |
T |
6: 136,816,927 (GRCm39) |
I56F |
possibly damaging |
Het |
| C1rb |
A |
T |
6: 124,551,908 (GRCm39) |
Q270L |
probably benign |
Het |
| Cadps2 |
C |
T |
6: 23,688,859 (GRCm39) |
R121Q |
probably damaging |
Het |
| Cd84 |
A |
G |
1: 171,679,688 (GRCm39) |
Y122C |
probably benign |
Het |
| Cklf |
C |
A |
8: 104,984,067 (GRCm39) |
P77T |
probably damaging |
Het |
| Clrn2 |
T |
C |
5: 45,611,346 (GRCm39) |
L65P |
probably damaging |
Het |
| Csde1 |
TCCTCGACCT |
TCCT |
3: 102,963,685 (GRCm39) |
|
probably benign |
Het |
| Csf2rb2 |
T |
C |
15: 78,169,490 (GRCm39) |
D446G |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 48,177,464 (GRCm39) |
E358G |
probably benign |
Het |
| Dmkn |
C |
T |
7: 30,470,667 (GRCm39) |
T385I |
possibly damaging |
Het |
| Dnah10 |
A |
G |
5: 124,896,408 (GRCm39) |
T3591A |
probably damaging |
Het |
| Dpp9 |
A |
G |
17: 56,497,030 (GRCm39) |
L734P |
probably damaging |
Het |
| Edem2 |
A |
G |
2: 155,570,913 (GRCm39) |
V39A |
possibly damaging |
Het |
| Glmp |
A |
C |
3: 88,233,320 (GRCm39) |
|
probably benign |
Het |
| Gm20775 |
T |
C |
Y: 10,641,885 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr179 |
T |
G |
11: 97,240,610 (GRCm39) |
D271A |
possibly damaging |
Het |
| Gtf2ird1 |
A |
G |
5: 134,412,750 (GRCm39) |
V587A |
probably damaging |
Het |
| Igfn1 |
T |
A |
1: 135,895,095 (GRCm39) |
T1824S |
probably benign |
Het |
| Ighmbp2 |
A |
T |
19: 3,311,589 (GRCm39) |
I942N |
probably damaging |
Het |
| Ints2 |
A |
G |
11: 86,147,035 (GRCm39) |
L37P |
probably benign |
Het |
| Irgq |
T |
A |
7: 24,233,470 (GRCm39) |
L437Q |
probably damaging |
Het |
| Kcnq4 |
A |
T |
4: 120,570,291 (GRCm39) |
W351R |
probably damaging |
Het |
| Kif3b |
G |
A |
2: 153,162,288 (GRCm39) |
A500T |
probably damaging |
Het |
| Lpp |
A |
G |
16: 24,480,430 (GRCm39) |
D66G |
probably damaging |
Het |
| Mapkap1 |
G |
A |
2: 34,487,434 (GRCm39) |
|
probably null |
Het |
| Mc4r |
T |
A |
18: 66,992,559 (GRCm39) |
I185F |
probably damaging |
Het |
| Mdga1 |
T |
C |
17: 30,061,128 (GRCm39) |
D621G |
probably benign |
Het |
| Med13 |
A |
G |
11: 86,189,403 (GRCm39) |
S1169P |
probably benign |
Het |
| Myh11 |
A |
T |
16: 14,018,947 (GRCm39) |
|
probably null |
Het |
| Naip1 |
G |
A |
13: 100,562,129 (GRCm39) |
A1012V |
probably benign |
Het |
| Ntn4 |
C |
T |
10: 93,480,362 (GRCm39) |
R29C |
probably damaging |
Het |
| Plxnd1 |
A |
G |
6: 115,937,816 (GRCm39) |
V1510A |
probably damaging |
Het |
| Polr1e |
T |
A |
4: 45,024,482 (GRCm39) |
M131K |
probably benign |
Het |
| Prdm10 |
T |
A |
9: 31,241,237 (GRCm39) |
*342R |
probably null |
Het |
| Prex2 |
T |
C |
1: 11,138,244 (GRCm39) |
F108L |
probably damaging |
Het |
| Psmg2 |
T |
A |
18: 67,781,992 (GRCm39) |
I186N |
probably benign |
Het |
| Ros1 |
T |
A |
10: 51,972,271 (GRCm39) |
E1614D |
probably damaging |
Het |
| Sin3a |
G |
A |
9: 56,994,026 (GRCm39) |
V44M |
probably damaging |
Het |
| Slco1a1 |
G |
A |
6: 141,854,735 (GRCm39) |
L639F |
possibly damaging |
Het |
| Smr2 |
T |
G |
5: 88,246,289 (GRCm39) |
L101* |
probably null |
Het |
| Spata31d1b |
C |
T |
13: 59,863,535 (GRCm39) |
P228S |
probably benign |
Het |
| Stat5b |
G |
T |
11: 100,681,623 (GRCm39) |
H544N |
probably benign |
Het |
| Syk |
A |
T |
13: 52,786,963 (GRCm39) |
Y319F |
probably benign |
Het |
| Tln2 |
G |
T |
9: 67,239,015 (GRCm39) |
T1087K |
probably benign |
Het |
| Tsc22d1 |
A |
G |
14: 76,654,428 (GRCm39) |
|
probably null |
Het |
| Vmn2r52 |
T |
A |
7: 9,893,169 (GRCm39) |
T657S |
probably damaging |
Het |
| Vmn2r63 |
A |
T |
7: 42,576,314 (GRCm39) |
S500T |
probably benign |
Het |
| Vps45 |
A |
C |
3: 95,953,725 (GRCm39) |
V209G |
probably benign |
Het |
| Xrcc1 |
C |
A |
7: 24,269,905 (GRCm39) |
A442E |
probably benign |
Het |
| Ythdc1 |
T |
A |
5: 86,970,704 (GRCm39) |
V430E |
probably damaging |
Het |
| Zfp341 |
G |
A |
2: 154,487,786 (GRCm39) |
|
probably benign |
Het |
| Zfp422 |
A |
T |
6: 116,603,623 (GRCm39) |
N125K |
probably damaging |
Het |
| Zfp53 |
T |
A |
17: 21,725,263 (GRCm39) |
D58E |
possibly damaging |
Het |
| Zfp707 |
C |
T |
15: 75,845,000 (GRCm39) |
Q66* |
probably null |
Het |
|
| Other mutations in Plb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00096:Plb1
|
APN |
5 |
32,503,080 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00542:Plb1
|
APN |
5 |
32,427,178 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL00835:Plb1
|
APN |
5 |
32,521,516 (GRCm39) |
missense |
unknown |
|
|
IGL00954:Plb1
|
APN |
5 |
32,455,858 (GRCm39) |
splice site |
probably benign |
|
|
IGL01350:Plb1
|
APN |
5 |
32,474,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01527:Plb1
|
APN |
5 |
32,474,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01599:Plb1
|
APN |
5 |
32,499,888 (GRCm39) |
splice site |
probably benign |
|
|
IGL01690:Plb1
|
APN |
5 |
32,471,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01813:Plb1
|
APN |
5 |
32,486,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01826:Plb1
|
APN |
5 |
32,438,489 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02263:Plb1
|
APN |
5 |
32,478,692 (GRCm39) |
splice site |
probably benign |
|
|
IGL02314:Plb1
|
APN |
5 |
32,438,492 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02649:Plb1
|
APN |
5 |
32,519,912 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02701:Plb1
|
APN |
5 |
32,521,541 (GRCm39) |
missense |
unknown |
|
|
IGL02704:Plb1
|
APN |
5 |
32,511,011 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03170:Plb1
|
APN |
5 |
32,442,246 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03182:Plb1
|
APN |
5 |
32,502,259 (GRCm39) |
splice site |
probably benign |
|
|
IGL03326:Plb1
|
APN |
5 |
32,488,671 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03046:Plb1
|
UTSW |
5 |
32,485,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0013:Plb1
|
UTSW |
5 |
32,506,959 (GRCm39) |
splice site |
probably benign |
|
|
R0013:Plb1
|
UTSW |
5 |
32,506,959 (GRCm39) |
splice site |
probably benign |
|
|
R0034:Plb1
|
UTSW |
5 |
32,430,457 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0034:Plb1
|
UTSW |
5 |
32,430,457 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0330:Plb1
|
UTSW |
5 |
32,512,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0413:Plb1
|
UTSW |
5 |
32,512,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0721:Plb1
|
UTSW |
5 |
32,521,539 (GRCm39) |
missense |
unknown |
|
|
R0735:Plb1
|
UTSW |
5 |
32,442,264 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1423:Plb1
|
UTSW |
5 |
32,450,601 (GRCm39) |
missense |
probably benign |
|
|
R1428:Plb1
|
UTSW |
5 |
32,422,256 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1469:Plb1
|
UTSW |
5 |
32,512,170 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1469:Plb1
|
UTSW |
5 |
32,512,170 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1694:Plb1
|
UTSW |
5 |
32,474,621 (GRCm39) |
missense |
probably null |
0.01 |
|
R1801:Plb1
|
UTSW |
5 |
32,450,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1804:Plb1
|
UTSW |
5 |
32,511,041 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1900:Plb1
|
UTSW |
5 |
32,444,191 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1903:Plb1
|
UTSW |
5 |
32,448,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2101:Plb1
|
UTSW |
5 |
32,507,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2153:Plb1
|
UTSW |
5 |
32,471,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2207:Plb1
|
UTSW |
5 |
32,473,984 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R2270:Plb1
|
UTSW |
5 |
32,450,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2271:Plb1
|
UTSW |
5 |
32,450,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2311:Plb1
|
UTSW |
5 |
32,427,162 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2850:Plb1
|
UTSW |
5 |
32,450,568 (GRCm39) |
missense |
probably benign |
|
|
R3103:Plb1
|
UTSW |
5 |
32,485,373 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4444:Plb1
|
UTSW |
5 |
32,487,909 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4559:Plb1
|
UTSW |
5 |
32,490,175 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4577:Plb1
|
UTSW |
5 |
32,404,901 (GRCm39) |
nonsense |
probably null |
|
|
R4578:Plb1
|
UTSW |
5 |
32,404,901 (GRCm39) |
nonsense |
probably null |
|
|
R4739:Plb1
|
UTSW |
5 |
32,507,023 (GRCm39) |
splice site |
probably null |
|
|
R4747:Plb1
|
UTSW |
5 |
32,507,003 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5406:Plb1
|
UTSW |
5 |
32,499,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5567:Plb1
|
UTSW |
5 |
32,521,543 (GRCm39) |
missense |
unknown |
|
|
R5574:Plb1
|
UTSW |
5 |
32,487,291 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5588:Plb1
|
UTSW |
5 |
32,487,293 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5619:Plb1
|
UTSW |
5 |
32,490,841 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5769:Plb1
|
UTSW |
5 |
32,474,866 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6366:Plb1
|
UTSW |
5 |
32,471,429 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R6700:Plb1
|
UTSW |
5 |
32,490,808 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7162:Plb1
|
UTSW |
5 |
32,507,007 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7379:Plb1
|
UTSW |
5 |
32,502,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7395:Plb1
|
UTSW |
5 |
32,511,028 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7426:Plb1
|
UTSW |
5 |
32,478,591 (GRCm39) |
splice site |
probably null |
|
|
R7643:Plb1
|
UTSW |
5 |
32,404,901 (GRCm39) |
nonsense |
probably null |
|
|
R7657:Plb1
|
UTSW |
5 |
32,487,211 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7780:Plb1
|
UTSW |
5 |
32,483,610 (GRCm39) |
splice site |
probably null |
|
|
R8040:Plb1
|
UTSW |
5 |
32,430,413 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8212:Plb1
|
UTSW |
5 |
32,422,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8312:Plb1
|
UTSW |
5 |
32,485,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8560:Plb1
|
UTSW |
5 |
32,460,023 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8770:Plb1
|
UTSW |
5 |
32,404,853 (GRCm39) |
missense |
unknown |
|
|
R8857:Plb1
|
UTSW |
5 |
32,521,556 (GRCm39) |
missense |
unknown |
|
|
R9029:Plb1
|
UTSW |
5 |
32,439,079 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9110:Plb1
|
UTSW |
5 |
32,521,402 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9765:Plb1
|
UTSW |
5 |
32,512,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0018:Plb1
|
UTSW |
5 |
32,443,227 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0019:Plb1
|
UTSW |
5 |
32,511,041 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0027:Plb1
|
UTSW |
5 |
32,427,702 (GRCm39) |
missense |
probably benign |
|
|
X0028:Plb1
|
UTSW |
5 |
32,460,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Plb1
|
UTSW |
5 |
32,468,261 (GRCm39) |
missense |
probably benign |
|
|
Z1088:Plb1
|
UTSW |
5 |
32,468,191 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Plb1
|
UTSW |
5 |
32,442,241 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGACAGCTGGAAATGTCCC -3'
(R):5'- TCTCACGGTCCACAGGAATATG -3'
Sequencing Primer
(F):5'- CAGCTGGAAATGTCCCCAATGG -3'
(R):5'- CGGTCCACAGGAATATGTTTTAGGAC -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation