Incidental Mutation 'R7657:Plb1'
| ID |
591259 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plb1
|
| Ensembl Gene |
ENSMUSG00000029134 |
| Gene Name |
phospholipase B1 |
| Synonyms |
4632413E21Rik, 4930433E17Rik, 4930539A06Rik |
| MMRRC Submission |
045733-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R7657 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
32390035-32521700 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 32487211 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Threonine
at position 902
(N902T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098927
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101376]
[ENSMUST00000202220]
|
| AlphaFold |
Q3TTY0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101376
AA Change: N902T
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000098927
Gene: ENSMUSG00000029134
AA Change: N902T
| 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 |
probably damaging
Transcript: ENSMUST00000202220
AA Change: N902T
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000144040
Gene: ENSMUSG00000029134
AA Change: N902T
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (80/80) |
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310033P09Rik |
A |
G |
11: 59,099,337 (GRCm39) |
E28G |
possibly damaging |
Het |
| Acot6 |
G |
A |
12: 84,153,304 (GRCm39) |
G182D |
possibly damaging |
Het |
| Actl9 |
A |
G |
17: 33,652,014 (GRCm39) |
T25A |
probably benign |
Het |
| Adam26b |
G |
A |
8: 43,974,579 (GRCm39) |
T141I |
possibly damaging |
Het |
| Agl |
T |
C |
3: 116,572,812 (GRCm39) |
H148R |
|
Het |
| Angptl1 |
A |
G |
1: 156,684,790 (GRCm39) |
I320V |
probably benign |
Het |
| Arhgef10 |
C |
T |
8: 15,029,893 (GRCm39) |
R932C |
probably damaging |
Het |
| Atp13a2 |
A |
G |
4: 140,719,815 (GRCm39) |
E91G |
possibly damaging |
Het |
| Bptf |
T |
A |
11: 106,965,555 (GRCm39) |
E1213V |
probably damaging |
Het |
| C530025M09Rik |
A |
G |
2: 149,672,541 (GRCm39) |
V198A |
unknown |
Het |
| Casd1 |
A |
T |
6: 4,619,773 (GRCm39) |
I173F |
probably benign |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Col1a2 |
A |
T |
6: 4,527,152 (GRCm39) |
K627M |
probably null |
Het |
| Ctcfl |
G |
A |
2: 172,955,449 (GRCm39) |
T271I |
possibly damaging |
Het |
| Dctn2 |
T |
C |
10: 127,102,383 (GRCm39) |
Y6H |
probably damaging |
Het |
| Denr |
T |
C |
5: 124,046,263 (GRCm39) |
V31A |
probably damaging |
Het |
| Entpd7 |
T |
C |
19: 43,713,906 (GRCm39) |
F422L |
possibly damaging |
Het |
| Fastkd5 |
G |
C |
2: 130,458,176 (GRCm39) |
P138R |
probably benign |
Het |
| Fmn1 |
G |
T |
2: 113,355,538 (GRCm39) |
A758S |
unknown |
Het |
| Fmo2 |
A |
G |
1: 162,716,413 (GRCm39) |
V58A |
probably damaging |
Het |
| Fmo6 |
A |
G |
1: 162,750,285 (GRCm39) |
I257T |
probably benign |
Het |
| Foxn1 |
T |
C |
11: 78,256,790 (GRCm39) |
T302A |
probably benign |
Het |
| Ganab |
C |
T |
19: 8,884,721 (GRCm39) |
L175F |
probably damaging |
Het |
| Gga1 |
A |
T |
15: 78,773,327 (GRCm39) |
|
probably null |
Het |
| Gjd3 |
G |
T |
11: 98,873,586 (GRCm39) |
S86* |
probably null |
Het |
| Gm1330 |
A |
G |
2: 148,841,154 (GRCm39) |
|
probably null |
Het |
| Gm18596 |
A |
C |
10: 77,577,947 (GRCm39) |
S176A |
unknown |
Het |
| Gnl2 |
A |
G |
4: 124,923,951 (GRCm39) |
S10G |
probably benign |
Het |
| Gpsm2 |
G |
A |
3: 108,608,061 (GRCm39) |
A239V |
probably damaging |
Het |
| Grik2 |
T |
C |
10: 49,659,247 (GRCm39) |
R37G |
probably benign |
Het |
| Grm3 |
A |
G |
5: 9,561,452 (GRCm39) |
|
probably null |
Het |
| Gtpbp3 |
T |
C |
8: 71,943,765 (GRCm39) |
L216P |
probably benign |
Het |
| Hhla1 |
T |
C |
15: 65,837,308 (GRCm39) |
T99A |
probably damaging |
Het |
| Igtp |
A |
T |
11: 58,097,654 (GRCm39) |
Q275L |
probably benign |
Het |
| Itga6 |
G |
A |
2: 71,676,595 (GRCm39) |
A993T |
probably benign |
Het |
| Jakmip3 |
T |
A |
7: 138,620,903 (GRCm39) |
I234N |
probably damaging |
Het |
| Kcnh7 |
A |
G |
2: 62,566,379 (GRCm39) |
F851L |
probably damaging |
Het |
| Krr1 |
A |
G |
10: 111,811,504 (GRCm39) |
Y66C |
probably damaging |
Het |
| Krt33a |
T |
A |
11: 99,906,693 (GRCm39) |
Q94L |
probably benign |
Het |
| Mat1a |
A |
T |
14: 40,844,476 (GRCm39) |
K369* |
probably null |
Het |
| Mbd1 |
T |
G |
18: 74,407,804 (GRCm39) |
L277R |
probably damaging |
Het |
| Mmp21 |
C |
T |
7: 133,280,562 (GRCm39) |
G136D |
probably benign |
Het |
| Mroh3 |
A |
G |
1: 136,109,532 (GRCm39) |
Y892H |
possibly damaging |
Het |
| Ncbp3 |
G |
A |
11: 72,964,193 (GRCm39) |
R381Q |
probably damaging |
Het |
| Nlrp2 |
T |
A |
7: 5,322,167 (GRCm39) |
I827L |
probably benign |
Het |
| Nrip1 |
T |
A |
16: 76,091,587 (GRCm39) |
|
probably null |
Het |
| Or2ak4 |
A |
T |
11: 58,648,755 (GRCm39) |
D88V |
probably benign |
Het |
| Or4f6 |
A |
G |
2: 111,839,093 (GRCm39) |
V146A |
probably benign |
Het |
| Or5w13 |
C |
T |
2: 87,523,336 (GRCm39) |
V297I |
probably damaging |
Het |
| Oxt |
C |
T |
2: 130,418,710 (GRCm39) |
P107L |
possibly damaging |
Het |
| Pcdhga2 |
G |
A |
18: 37,803,481 (GRCm39) |
V442M |
probably damaging |
Het |
| Phtf1 |
T |
G |
3: 103,876,429 (GRCm39) |
S10A |
probably benign |
Het |
| Plppr3 |
T |
C |
10: 79,702,272 (GRCm39) |
I267V |
probably benign |
Het |
| Pms2 |
C |
A |
5: 143,856,357 (GRCm39) |
H278Q |
possibly damaging |
Het |
| Pmvk |
T |
A |
3: 89,376,158 (GRCm39) |
S154T |
possibly damaging |
Het |
| Polr3b |
T |
A |
10: 84,491,855 (GRCm39) |
M338K |
probably damaging |
Het |
| Ppp1r21 |
T |
A |
17: 88,863,110 (GRCm39) |
I283N |
probably damaging |
Het |
| Ptprj |
A |
T |
2: 90,282,501 (GRCm39) |
|
probably null |
Het |
| Rft1 |
T |
A |
14: 30,388,724 (GRCm39) |
L216H |
probably damaging |
Het |
| Rpl3 |
G |
A |
15: 79,965,258 (GRCm39) |
P174S |
probably benign |
Het |
| Rtl1 |
T |
C |
12: 109,561,818 (GRCm39) |
D7G |
possibly damaging |
Het |
| Slc13a2 |
A |
G |
11: 78,289,223 (GRCm39) |
V496A |
probably damaging |
Het |
| Slc14a1 |
A |
G |
18: 78,156,879 (GRCm39) |
|
probably null |
Het |
| Slc8a3 |
T |
C |
12: 81,361,158 (GRCm39) |
R554G |
probably damaging |
Het |
| Spata31d1b |
T |
C |
13: 59,863,577 (GRCm39) |
S242P |
possibly damaging |
Het |
| Spocd1 |
G |
A |
4: 129,823,535 (GRCm39) |
V111I |
|
Het |
| Stxbp5l |
G |
A |
16: 37,030,534 (GRCm39) |
A479V |
probably null |
Het |
| Tasor2 |
A |
G |
13: 3,623,777 (GRCm39) |
S2058P |
probably damaging |
Het |
| Tmem238 |
C |
G |
7: 4,792,226 (GRCm39) |
G106R |
probably damaging |
Het |
| Trak1 |
T |
G |
9: 121,301,652 (GRCm39) |
Y803D |
probably damaging |
Het |
| Trim5 |
T |
C |
7: 103,925,884 (GRCm39) |
S226G |
possibly damaging |
Het |
| Trim6 |
T |
A |
7: 103,881,068 (GRCm39) |
D282E |
possibly damaging |
Het |
| Ube2e2 |
A |
G |
14: 18,586,997 (GRCm38) |
V121A |
probably benign |
Het |
| Ufd1 |
T |
G |
16: 18,636,713 (GRCm39) |
M77R |
probably benign |
Het |
| Unc13c |
C |
T |
9: 73,441,185 (GRCm39) |
|
probably null |
Het |
| Wfs1 |
A |
G |
5: 37,125,578 (GRCm39) |
S438P |
probably benign |
Het |
| Zbtb6 |
A |
C |
2: 37,319,087 (GRCm39) |
D280E |
probably benign |
Het |
| Zfp595 |
G |
A |
13: 67,465,817 (GRCm39) |
L152F |
probably damaging |
Het |
| Zfpm2 |
A |
G |
15: 40,966,671 (GRCm39) |
E1052G |
possibly damaging |
Het |
| Zmym5 |
A |
G |
14: 57,041,653 (GRCm39) |
V150A |
probably benign |
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 |
|
R4806:Plb1
|
UTSW |
5 |
32,447,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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'- ATCATGCATGGGCTCACAAC -3'
(R):5'- AGCATAGAAATTCCTGCCTGG -3'
Sequencing Primer
(F):5'- ACCCCATGAAGTAGTCCCGTG -3'
(R):5'- AGGGATCAGATCAGTCTTGACCTC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation