Incidental Mutation 'R8312:Plb1'
ID |
641437 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plb1
|
Ensembl Gene |
ENSMUSG00000029134 |
Gene Name |
phospholipase B1 |
Synonyms |
4632413E21Rik, 4930433E17Rik, 4930539A06Rik |
MMRRC Submission |
067718-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R8312 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
32390035-32521700 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 32485829 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 871
(T871M)
|
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: T871M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000098927 Gene: ENSMUSG00000029134 AA Change: T871M
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: T871M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000144040 Gene: ENSMUSG00000029134 AA Change: T871M
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: 99.1%
|
Validation Efficiency |
100% (68/68) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd4 |
T |
C |
12: 84,662,190 (GRCm39) |
R23G |
probably damaging |
Het |
Abraxas2 |
A |
G |
7: 132,478,329 (GRCm39) |
Y163C |
probably damaging |
Het |
Acnat1 |
A |
T |
4: 49,449,142 (GRCm39) |
L208* |
probably null |
Het |
Agbl5 |
A |
G |
5: 31,051,850 (GRCm39) |
E556G |
probably damaging |
Het |
Ampd2 |
C |
A |
3: 107,987,432 (GRCm39) |
V134L |
probably benign |
Het |
Arih2 |
A |
G |
9: 108,521,473 (GRCm39) |
S2P |
probably damaging |
Het |
C87436 |
T |
A |
6: 86,434,813 (GRCm39) |
L387Q |
probably damaging |
Het |
Card9 |
A |
T |
2: 26,247,801 (GRCm39) |
Y183* |
probably null |
Het |
Cdk14 |
T |
C |
5: 4,944,141 (GRCm39) |
D394G |
probably benign |
Het |
Cep135 |
C |
T |
5: 76,784,746 (GRCm39) |
S947L |
probably damaging |
Het |
Cfb |
T |
C |
17: 35,077,121 (GRCm39) |
K505E |
probably benign |
Het |
Cnot4 |
T |
A |
6: 35,000,076 (GRCm39) |
D708V |
probably damaging |
Het |
Col16a1 |
T |
A |
4: 129,948,244 (GRCm39) |
L281M |
unknown |
Het |
Col6a3 |
G |
T |
1: 90,741,412 (GRCm39) |
D673E |
possibly damaging |
Het |
Ctdnep1 |
G |
A |
11: 69,879,527 (GRCm39) |
S150N |
probably benign |
Het |
Fanca |
T |
A |
8: 123,996,549 (GRCm39) |
|
probably benign |
Het |
Fras1 |
T |
A |
5: 96,736,050 (GRCm39) |
N548K |
probably benign |
Het |
Gbp2b |
A |
G |
3: 142,304,812 (GRCm39) |
M83V |
probably benign |
Het |
Gbp2b |
C |
A |
3: 142,304,815 (GRCm39) |
P84T |
probably damaging |
Het |
Gli2 |
A |
T |
1: 118,795,842 (GRCm39) |
|
probably benign |
Het |
Greb1l |
A |
G |
18: 10,511,587 (GRCm39) |
|
probably benign |
Het |
Grn |
A |
C |
11: 102,327,073 (GRCm39) |
K557T |
probably damaging |
Het |
Hapln1 |
C |
T |
13: 89,749,563 (GRCm39) |
A36V |
probably benign |
Het |
Heg1 |
C |
T |
16: 33,547,045 (GRCm39) |
R635W |
probably benign |
Het |
Hivep1 |
C |
A |
13: 42,308,653 (GRCm39) |
Q298K |
possibly damaging |
Het |
Hmcn1 |
A |
G |
1: 150,614,515 (GRCm39) |
I1297T |
probably damaging |
Het |
Hp1bp3 |
T |
A |
4: 137,950,750 (GRCm39) |
|
probably benign |
Het |
Htr4 |
C |
G |
18: 62,570,549 (GRCm39) |
F201L |
probably damaging |
Het |
Insrr |
C |
G |
3: 87,707,791 (GRCm39) |
Q78E |
possibly damaging |
Het |
Itga6 |
A |
T |
2: 71,686,297 (GRCm39) |
M1072L |
probably benign |
Het |
Kdsr |
A |
G |
1: 106,675,216 (GRCm39) |
|
probably null |
Het |
Klhl7 |
T |
C |
5: 24,339,965 (GRCm39) |
I149T |
probably damaging |
Het |
Lce1l |
G |
C |
3: 92,757,766 (GRCm39) |
P31A |
unknown |
Het |
Mag |
T |
C |
7: 30,610,894 (GRCm39) |
Y116C |
probably damaging |
Het |
Mast2 |
A |
G |
4: 116,287,683 (GRCm39) |
S131P |
probably benign |
Het |
Mlec |
C |
A |
5: 115,288,266 (GRCm39) |
|
probably null |
Het |
Mrap2 |
G |
A |
9: 87,051,712 (GRCm39) |
|
probably null |
Het |
Myo5b |
A |
G |
18: 74,867,033 (GRCm39) |
K1395E |
probably damaging |
Het |
Nipa2 |
G |
A |
7: 55,583,050 (GRCm39) |
Q232* |
probably null |
Het |
Nsd3 |
C |
T |
8: 26,153,268 (GRCm39) |
T536M |
probably damaging |
Het |
Oit3 |
T |
C |
10: 59,274,632 (GRCm39) |
N56S |
probably benign |
Het |
Or10p22 |
A |
G |
10: 128,826,347 (GRCm39) |
T189A |
probably benign |
Het |
Or13c7 |
A |
T |
4: 43,854,461 (GRCm39) |
I51F |
probably benign |
Het |
Or2m13 |
T |
C |
16: 19,225,987 (GRCm39) |
M260V |
probably benign |
Het |
Pax3 |
C |
T |
1: 78,172,006 (GRCm39) |
R68Q |
probably damaging |
Het |
Pcnx2 |
G |
T |
8: 126,489,589 (GRCm39) |
H1668Q |
possibly damaging |
Het |
Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
Pkd1 |
A |
G |
17: 24,786,102 (GRCm39) |
S463G |
probably benign |
Het |
Prdx1 |
A |
G |
4: 116,556,398 (GRCm39) |
D182G |
possibly damaging |
Het |
Prkch |
T |
A |
12: 73,807,358 (GRCm39) |
F593I |
noncoding transcript |
Het |
Psrc1 |
C |
T |
3: 108,293,673 (GRCm39) |
P194L |
probably benign |
Het |
Ptp4a2 |
A |
T |
4: 129,733,427 (GRCm39) |
I18L |
probably benign |
Het |
Samd10 |
A |
T |
2: 181,238,668 (GRCm39) |
L153H |
probably damaging |
Het |
Shc3 |
T |
G |
13: 51,596,754 (GRCm39) |
H423P |
probably damaging |
Het |
Siae |
A |
T |
9: 37,557,593 (GRCm39) |
I467F |
|
Het |
Slc27a5 |
C |
T |
7: 12,725,214 (GRCm39) |
R411Q |
probably damaging |
Het |
Spata24 |
A |
G |
18: 35,793,861 (GRCm39) |
I56T |
probably benign |
Het |
Spns3 |
G |
A |
11: 72,390,534 (GRCm39) |
T407M |
probably damaging |
Het |
Spta1 |
G |
A |
1: 174,067,777 (GRCm39) |
C2068Y |
probably damaging |
Het |
Svs5 |
C |
A |
2: 164,080,091 (GRCm39) |
G25W |
probably damaging |
Het |
Thsd7a |
T |
C |
6: 12,471,181 (GRCm39) |
D479G |
|
Het |
Trhde |
T |
C |
10: 114,249,192 (GRCm39) |
Y858C |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,781,992 (GRCm39) |
R1057C |
unknown |
Het |
Tulp4 |
G |
T |
17: 6,257,333 (GRCm39) |
|
probably null |
Het |
Tyk2 |
T |
C |
9: 21,026,945 (GRCm39) |
T613A |
possibly damaging |
Het |
Ugt2b37 |
T |
C |
5: 87,390,799 (GRCm39) |
K356R |
probably benign |
Het |
Vmn1r39 |
A |
G |
6: 66,781,841 (GRCm39) |
V159A |
noncoding transcript |
Het |
Vps35 |
A |
G |
8: 86,001,498 (GRCm39) |
V440A |
possibly damaging |
Het |
Zmym6 |
A |
G |
4: 127,017,627 (GRCm39) |
N1136S |
probably damaging |
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 |
|
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 |
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 |
|
Posted On |
2020-07-28 |