Incidental Mutation 'R0013:Plb1'
| ID |
166160 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plb1
|
| Ensembl Gene |
ENSMUSG00000029134 |
| Gene Name |
phospholipase B1 |
| Synonyms |
4632413E21Rik, 4930433E17Rik, 4930539A06Rik |
| MMRRC Submission |
038308-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R0013 (G1)
|
| Quality Score |
57 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
32390035-32521700 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 32506959 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144040
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101376]
[ENSMUST00000202220]
|
| AlphaFold |
Q3TTY0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101376
|
| SMART Domains |
Protein: ENSMUSP00000098927
Gene: ENSMUSG00000029134
| 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
|
| SMART Domains |
Protein: ENSMUSP00000144040
Gene: ENSMUSG00000029134
| 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: ENSMUST00000202453
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202688
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.8%
|
| Validation Efficiency |
94% (79/84) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610028H24Rik |
A |
G |
10: 76,293,346 (GRCm39) |
M156V |
probably benign |
Het |
| Adnp2 |
A |
T |
18: 80,172,960 (GRCm39) |
V483D |
probably damaging |
Het |
| Aff1 |
G |
T |
5: 103,976,350 (GRCm39) |
E491* |
probably null |
Het |
| Agl |
A |
T |
3: 116,570,257 (GRCm39) |
C911* |
probably null |
Het |
| Akt2 |
A |
G |
7: 27,335,483 (GRCm39) |
D284G |
probably damaging |
Het |
| Alox15 |
A |
G |
11: 70,240,461 (GRCm39) |
M240T |
possibly damaging |
Het |
| Antxr2 |
A |
G |
5: 98,127,844 (GRCm39) |
V229A |
probably damaging |
Het |
| Arap2 |
G |
A |
5: 62,840,827 (GRCm39) |
L680F |
probably damaging |
Het |
| Btaf1 |
A |
G |
19: 36,935,773 (GRCm39) |
T188A |
probably benign |
Het |
| Btnl6 |
G |
A |
17: 34,734,505 (GRCm39) |
Q86* |
probably null |
Het |
| C2cd3 |
T |
A |
7: 100,065,269 (GRCm39) |
L685H |
probably damaging |
Het |
| Cdh23 |
T |
C |
10: 60,248,952 (GRCm39) |
T878A |
possibly damaging |
Het |
| Clec4b2 |
T |
C |
6: 123,179,108 (GRCm39) |
Y137H |
probably damaging |
Het |
| Dchs1 |
T |
A |
7: 105,405,043 (GRCm39) |
T2500S |
possibly damaging |
Het |
| Def6 |
A |
G |
17: 28,436,066 (GRCm39) |
Y75C |
probably damaging |
Het |
| Dhx33 |
A |
T |
11: 70,884,461 (GRCm39) |
F448L |
probably damaging |
Het |
| Dner |
C |
T |
1: 84,472,614 (GRCm39) |
|
probably benign |
Het |
| Dnmbp |
G |
A |
19: 43,890,670 (GRCm39) |
P366S |
probably benign |
Het |
| Eif4g3 |
T |
C |
4: 137,903,159 (GRCm39) |
C1160R |
possibly damaging |
Het |
| Elmod1 |
G |
A |
9: 53,820,185 (GRCm39) |
|
probably benign |
Het |
| Faah |
C |
A |
4: 115,861,588 (GRCm39) |
L305F |
probably damaging |
Het |
| Flt1 |
A |
G |
5: 147,507,824 (GRCm39) |
|
probably benign |
Het |
| Fyco1 |
A |
T |
9: 123,651,471 (GRCm39) |
N1196K |
probably benign |
Het |
| Galnt18 |
T |
C |
7: 111,153,664 (GRCm39) |
N320S |
probably damaging |
Het |
| Garin3 |
A |
G |
11: 46,297,631 (GRCm39) |
T312A |
unknown |
Het |
| Glp2r |
C |
A |
11: 67,600,538 (GRCm39) |
G437V |
possibly damaging |
Het |
| Gm4884 |
T |
C |
7: 40,693,716 (GRCm39) |
S562P |
probably damaging |
Het |
| Gm9936 |
A |
G |
5: 114,995,408 (GRCm39) |
|
probably benign |
Het |
| Gpn2 |
C |
A |
4: 133,312,103 (GRCm39) |
P112T |
probably damaging |
Het |
| Grm4 |
A |
G |
17: 27,650,549 (GRCm39) |
Y816H |
probably benign |
Het |
| Helz2 |
A |
T |
2: 180,882,752 (GRCm39) |
S14T |
probably benign |
Het |
| Htt |
T |
C |
5: 34,977,448 (GRCm39) |
L778P |
probably benign |
Het |
| Il11ra1 |
T |
C |
4: 41,765,060 (GRCm39) |
S129P |
probably damaging |
Het |
| Ints11 |
T |
C |
4: 155,971,625 (GRCm39) |
F315S |
probably damaging |
Het |
| Itga11 |
A |
T |
9: 62,683,895 (GRCm39) |
N1059Y |
possibly damaging |
Het |
| Jak3 |
A |
G |
8: 72,136,971 (GRCm39) |
S716G |
probably damaging |
Het |
| Kcns1 |
G |
T |
2: 164,010,563 (GRCm39) |
D65E |
probably benign |
Het |
| Kdm5d |
A |
T |
Y: 941,715 (GRCm39) |
K1305N |
probably benign |
Het |
| Kif26a |
G |
T |
12: 112,144,314 (GRCm39) |
V1523L |
probably benign |
Het |
| Mboat7 |
A |
G |
7: 3,686,821 (GRCm39) |
S340P |
probably damaging |
Het |
| Mctp2 |
T |
C |
7: 71,879,156 (GRCm39) |
I234V |
probably benign |
Het |
| Mex3c |
G |
A |
18: 73,723,622 (GRCm39) |
A572T |
probably benign |
Het |
| Mpp3 |
C |
A |
11: 101,896,251 (GRCm39) |
R424L |
probably benign |
Het |
| Mroh4 |
T |
A |
15: 74,480,086 (GRCm39) |
|
probably benign |
Het |
| Myo9a |
A |
T |
9: 59,767,489 (GRCm39) |
|
probably benign |
Het |
| Myog |
T |
A |
1: 134,217,973 (GRCm39) |
H60Q |
probably damaging |
Het |
| Nlrp9a |
T |
A |
7: 26,270,650 (GRCm39) |
|
probably null |
Het |
| Notch1 |
A |
G |
2: 26,363,830 (GRCm39) |
V868A |
possibly damaging |
Het |
| Or10g9b |
A |
T |
9: 39,917,651 (GRCm39) |
I198N |
probably damaging |
Het |
| Or1j20 |
A |
G |
2: 36,760,172 (GRCm39) |
N198S |
probably damaging |
Het |
| Or1p1 |
T |
A |
11: 74,179,877 (GRCm39) |
I135N |
possibly damaging |
Het |
| Or5d18 |
T |
C |
2: 87,864,610 (GRCm39) |
Y291C |
possibly damaging |
Het |
| Pink1 |
T |
C |
4: 138,044,712 (GRCm39) |
T342A |
probably benign |
Het |
| Plec |
T |
C |
15: 76,062,446 (GRCm39) |
D2524G |
probably damaging |
Het |
| Plekhg4 |
G |
T |
8: 106,102,028 (GRCm39) |
E6* |
probably null |
Het |
| Polq |
T |
C |
16: 36,882,201 (GRCm39) |
F1455S |
possibly damaging |
Het |
| Ppm1e |
A |
G |
11: 87,139,884 (GRCm39) |
|
probably benign |
Het |
| Prkaca |
G |
A |
8: 84,714,932 (GRCm39) |
M119I |
possibly damaging |
Het |
| Prss46 |
G |
T |
9: 110,679,123 (GRCm39) |
S108I |
probably damaging |
Het |
| Ptma |
C |
T |
1: 86,457,498 (GRCm39) |
|
probably benign |
Het |
| Rab11fip4 |
C |
T |
11: 79,580,479 (GRCm39) |
T437M |
probably benign |
Het |
| Rngtt |
T |
A |
4: 33,379,409 (GRCm39) |
M437K |
probably benign |
Het |
| Rrn3 |
T |
A |
16: 13,630,977 (GRCm39) |
D604E |
possibly damaging |
Het |
| Scn4a |
A |
G |
11: 106,239,231 (GRCm39) |
|
probably benign |
Het |
| Sis |
A |
G |
3: 72,817,809 (GRCm39) |
L1468P |
possibly damaging |
Het |
| Slit3 |
A |
G |
11: 35,598,745 (GRCm39) |
M1450V |
probably benign |
Het |
| Smg5 |
T |
C |
3: 88,256,540 (GRCm39) |
S269P |
probably benign |
Het |
| Sntg1 |
T |
C |
1: 8,533,686 (GRCm39) |
T323A |
probably damaging |
Het |
| Son |
C |
T |
16: 91,448,550 (GRCm39) |
T37I |
probably damaging |
Het |
| Stk17b |
T |
C |
1: 53,803,291 (GRCm39) |
I41M |
probably benign |
Het |
| Tgm5 |
T |
A |
2: 120,907,363 (GRCm39) |
Y120F |
probably damaging |
Het |
| Tppp |
A |
G |
13: 74,169,479 (GRCm39) |
K73R |
possibly damaging |
Het |
| Ttn |
C |
A |
2: 76,569,502 (GRCm39) |
K27130N |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,738,096 (GRCm39) |
V4148I |
probably benign |
Het |
| Tut4 |
T |
A |
4: 108,388,152 (GRCm39) |
|
probably benign |
Het |
| Uba7 |
A |
T |
9: 107,855,448 (GRCm39) |
Y375F |
probably damaging |
Het |
| Ugcg |
T |
C |
4: 59,213,931 (GRCm39) |
L171P |
possibly damaging |
Het |
| Vsig2 |
T |
C |
9: 37,453,872 (GRCm39) |
|
probably benign |
Het |
| Zfp839 |
T |
A |
12: 110,834,820 (GRCm39) |
S692T |
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 |
|
|
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 |
|
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'- ACCACCAGTCTCATTACCGAGTGTC -3'
(R):5'- CATGAACTCCCTTGAAGACCACCTG -3'
Sequencing Primer
(F):5'- tcagacggaggtgaaggg -3'
(R):5'- TTGAAGACCACCTGAAGGC -3'
|
| Posted On |
2014-04-10 |
Incidental Mutation