Incidental Mutation 'R7162:Plb1'
ID |
557640 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plb1
|
Ensembl Gene |
ENSMUSG00000029134 |
Gene Name |
phospholipase B1 |
Synonyms |
4632413E21Rik, 4930433E17Rik, 4930539A06Rik |
MMRRC Submission |
045261-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R7162 (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 G
at 32507007 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 1194
(K1194R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000098927
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101376]
[ENSMUST00000202220]
|
AlphaFold |
Q3TTY0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000101376
AA Change: K1194R
PolyPhen 2
Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000098927 Gene: ENSMUSG00000029134 AA Change: K1194R
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 benign
Transcript: ENSMUST00000202220
AA Change: K1194R
PolyPhen 2
Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000144040 Gene: ENSMUSG00000029134 AA Change: K1194R
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 |
99% (85/86) |
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: 86 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akp3 |
C |
T |
1: 87,055,471 (GRCm39) |
T506I |
unknown |
Het |
Ank1 |
T |
C |
8: 23,622,370 (GRCm39) |
W1640R |
possibly damaging |
Het |
Atp2a2 |
A |
G |
5: 122,627,387 (GRCm39) |
M126T |
probably benign |
Het |
Bptf |
A |
T |
11: 106,934,457 (GRCm39) |
|
probably null |
Het |
Brat1 |
T |
C |
5: 140,696,004 (GRCm39) |
V125A |
probably benign |
Het |
Cables1 |
T |
C |
18: 12,059,423 (GRCm39) |
|
probably null |
Het |
Cabp5 |
A |
T |
7: 13,135,260 (GRCm39) |
M67L |
probably damaging |
Het |
Cacna1b |
A |
C |
2: 24,590,034 (GRCm39) |
I558S |
probably benign |
Het |
Ccdc166 |
A |
G |
15: 75,853,044 (GRCm39) |
S308P |
probably benign |
Het |
Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
Cfhr2 |
A |
G |
1: 139,741,264 (GRCm39) |
V237A |
probably benign |
Het |
Clybl |
C |
A |
14: 122,608,732 (GRCm39) |
S108* |
probably null |
Het |
Cubn |
A |
G |
2: 13,347,309 (GRCm39) |
Y2070H |
probably damaging |
Het |
Cyp8b1 |
A |
G |
9: 121,744,777 (GRCm39) |
F185S |
probably damaging |
Het |
Dennd2c |
T |
A |
3: 103,063,423 (GRCm39) |
V620D |
probably damaging |
Het |
Dis3l2 |
T |
C |
1: 86,971,752 (GRCm39) |
F597L |
possibly damaging |
Het |
Eif3f |
G |
A |
7: 108,539,938 (GRCm39) |
R282H |
probably benign |
Het |
Ell |
C |
A |
8: 71,031,559 (GRCm39) |
R86S |
possibly damaging |
Het |
Eppk1 |
A |
G |
15: 75,990,809 (GRCm39) |
V2024A |
possibly damaging |
Het |
Exoc6 |
T |
C |
19: 37,565,566 (GRCm39) |
I214T |
probably damaging |
Het |
Faim2 |
A |
G |
15: 99,419,048 (GRCm39) |
|
probably null |
Het |
Gli1 |
A |
G |
10: 127,168,306 (GRCm39) |
S516P |
probably benign |
Het |
Gm18596 |
A |
T |
10: 77,578,034 (GRCm39) |
S147T |
unknown |
Het |
Gm19965 |
A |
G |
1: 116,750,095 (GRCm39) |
Y592C |
unknown |
Het |
Gng12 |
T |
C |
6: 66,994,285 (GRCm39) |
S36P |
unknown |
Het |
Gramd2b |
G |
A |
18: 56,618,529 (GRCm39) |
|
probably null |
Het |
Hmcn1 |
T |
A |
1: 150,624,744 (GRCm39) |
T1054S |
probably benign |
Het |
Ifngr1 |
A |
G |
10: 19,485,101 (GRCm39) |
T367A |
probably benign |
Het |
Il21r |
G |
T |
7: 125,231,483 (GRCm39) |
V304L |
probably benign |
Het |
Ino80d |
G |
A |
1: 63,104,894 (GRCm39) |
T394M |
probably damaging |
Het |
Itfg2 |
C |
T |
6: 128,387,546 (GRCm39) |
V380M |
probably damaging |
Het |
Kcna5 |
C |
T |
6: 126,510,806 (GRCm39) |
V441I |
possibly damaging |
Het |
Kcp |
T |
A |
6: 29,497,199 (GRCm39) |
|
probably null |
Het |
Kdf1 |
C |
T |
4: 133,257,229 (GRCm39) |
T375I |
unknown |
Het |
Klk1b1 |
A |
T |
7: 43,618,671 (GRCm39) |
D16V |
probably damaging |
Het |
Krtap5-4 |
A |
C |
7: 141,857,335 (GRCm39) |
T2P |
unknown |
Het |
Lamtor1 |
A |
G |
7: 101,555,243 (GRCm39) |
D13G |
probably benign |
Het |
Lrp10 |
T |
C |
14: 54,703,163 (GRCm39) |
V72A |
possibly damaging |
Het |
Lrrc1 |
C |
A |
9: 77,339,472 (GRCm39) |
A503S |
probably benign |
Het |
Mylk |
A |
T |
16: 34,742,899 (GRCm39) |
D1137V |
probably damaging |
Het |
Myo5b |
C |
G |
18: 74,828,498 (GRCm39) |
L717V |
probably benign |
Het |
Myoz3 |
T |
A |
18: 60,709,485 (GRCm39) |
R225S |
probably damaging |
Het |
Myrf |
A |
G |
19: 10,196,010 (GRCm39) |
F335L |
possibly damaging |
Het |
Nfib |
A |
C |
4: 82,268,677 (GRCm39) |
S292A |
probably damaging |
Het |
Notch3 |
G |
T |
17: 32,365,423 (GRCm39) |
H1096Q |
probably damaging |
Het |
Nt5c1a |
A |
G |
4: 123,107,898 (GRCm39) |
R194G |
probably benign |
Het |
Or10d3 |
A |
G |
9: 39,461,525 (GRCm39) |
I214T |
probably damaging |
Het |
Or5a1 |
A |
G |
19: 12,097,501 (GRCm39) |
F192L |
possibly damaging |
Het |
Parp4 |
A |
G |
14: 56,886,333 (GRCm39) |
E1804G |
unknown |
Het |
Pcdhac2 |
A |
T |
18: 37,278,840 (GRCm39) |
I607L |
probably benign |
Het |
Pcdhb5 |
A |
G |
18: 37,454,739 (GRCm39) |
D373G |
probably benign |
Het |
Pcf11 |
A |
T |
7: 92,313,221 (GRCm39) |
V154E |
probably damaging |
Het |
Pdia3 |
T |
G |
2: 121,260,002 (GRCm39) |
D180E |
probably benign |
Het |
Piezo2 |
C |
A |
18: 63,257,780 (GRCm39) |
V313F |
possibly damaging |
Het |
Pik3ap1 |
C |
A |
19: 41,309,965 (GRCm39) |
A452S |
probably benign |
Het |
Pld3 |
A |
C |
7: 27,231,899 (GRCm39) |
W431G |
probably damaging |
Het |
Plekha3 |
T |
C |
2: 76,523,110 (GRCm39) |
|
probably null |
Het |
Ppm1f |
G |
T |
16: 16,732,057 (GRCm39) |
R169L |
probably damaging |
Het |
Ppp2r3d |
A |
G |
9: 124,439,673 (GRCm38) |
V60A |
|
Het |
Prop1 |
T |
A |
11: 50,842,881 (GRCm39) |
D102V |
probably damaging |
Het |
Rbm27 |
G |
A |
18: 42,447,092 (GRCm39) |
G446R |
unknown |
Het |
Rc3h2 |
C |
A |
2: 37,299,617 (GRCm39) |
V138L |
possibly damaging |
Het |
Rorc |
G |
A |
3: 94,284,915 (GRCm39) |
|
probably null |
Het |
Sardh |
A |
G |
2: 27,087,702 (GRCm39) |
V723A |
possibly damaging |
Het |
Sart3 |
A |
G |
5: 113,900,896 (GRCm39) |
Y181H |
probably damaging |
Het |
Sbpl |
A |
T |
17: 24,172,439 (GRCm39) |
M160K |
possibly damaging |
Het |
Sh3gl3 |
A |
G |
7: 81,933,350 (GRCm39) |
S238G |
probably benign |
Het |
Slc22a30 |
A |
G |
19: 8,314,081 (GRCm39) |
|
probably null |
Het |
Slc3a1 |
A |
T |
17: 85,371,442 (GRCm39) |
R665* |
probably null |
Het |
Stk32a |
C |
A |
18: 43,430,649 (GRCm39) |
Y186* |
probably null |
Het |
Stxbp6 |
T |
C |
12: 44,949,663 (GRCm39) |
N89D |
probably benign |
Het |
Svep1 |
A |
G |
4: 58,070,262 (GRCm39) |
F2508S |
possibly damaging |
Het |
Tas1r1 |
A |
G |
4: 152,116,695 (GRCm39) |
V313A |
possibly damaging |
Het |
Tmem81 |
T |
C |
1: 132,435,355 (GRCm39) |
Y54H |
probably damaging |
Het |
Tmtc1 |
T |
C |
6: 148,172,985 (GRCm39) |
N582S |
probably damaging |
Het |
Top2b |
T |
C |
14: 16,416,653 (GRCm38) |
S1138P |
probably benign |
Het |
Trim24 |
T |
A |
6: 37,942,456 (GRCm39) |
N989K |
possibly damaging |
Het |
Trim72 |
T |
A |
7: 127,606,821 (GRCm39) |
M145K |
probably benign |
Het |
Ttll9 |
T |
A |
2: 152,831,523 (GRCm39) |
S154T |
probably damaging |
Het |
Tusc3 |
T |
C |
8: 39,593,741 (GRCm39) |
V286A |
probably benign |
Het |
Vat1l |
C |
A |
8: 114,963,518 (GRCm39) |
H185N |
probably damaging |
Het |
Vmn1r209 |
A |
T |
13: 22,990,128 (GRCm39) |
D187E |
probably damaging |
Het |
Vmn2r87 |
T |
C |
10: 130,313,416 (GRCm39) |
N450S |
probably benign |
Het |
Wdr7 |
T |
A |
18: 63,857,210 (GRCm39) |
D95E |
possibly damaging |
Het |
Zfp937 |
C |
T |
2: 150,081,439 (GRCm39) |
H490Y |
probably benign |
Het |
Zfp974 |
A |
T |
7: 27,610,944 (GRCm39) |
H260Q |
possibly 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 |
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'- TAAGACTCAGATCCTGCCCCAG -3'
(R):5'- CTGTGATCTTGGCCAACTCC -3'
Sequencing Primer
(F):5'- TCTGGATAGGTGTAGCCCC -3'
(R):5'- GTGATCTTGGCCAACTCCTCATTC -3'
|
Posted On |
2019-06-26 |