Incidental Mutation 'R2101:Plb1'
| ID |
230491 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plb1
|
| Ensembl Gene |
ENSMUSG00000029134 |
| Gene Name |
phospholipase B1 |
| Synonyms |
4632413E21Rik, 4930433E17Rik, 4930539A06Rik |
| MMRRC Submission |
040105-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R2101 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
32390035-32521700 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 32507004 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1193
(M1193K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144040
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101376]
[ENSMUST00000202220]
|
| AlphaFold |
Q3TTY0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101376
AA Change: M1193K
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000098927
Gene: ENSMUSG00000029134
AA Change: M1193K
| 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: M1193K
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000144040
Gene: ENSMUSG00000029134
AA Change: M1193K
| 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
|
| Meta Mutation Damage Score |
0.6117 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (67/67) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb2 |
G |
A |
2: 103,397,207 (GRCm39) |
A46T |
probably benign |
Het |
| Agap3 |
T |
A |
5: 24,692,797 (GRCm39) |
L47Q |
probably damaging |
Het |
| Apaf1 |
T |
G |
10: 90,895,942 (GRCm39) |
I377L |
probably benign |
Het |
| Astn2 |
G |
A |
4: 65,499,923 (GRCm39) |
R937* |
probably null |
Het |
| Cacnb1 |
A |
C |
11: 97,896,554 (GRCm39) |
V369G |
probably damaging |
Het |
| Cdc42bpa |
G |
T |
1: 179,974,533 (GRCm39) |
V1464L |
probably benign |
Het |
| Cdkn2aip |
A |
T |
8: 48,166,036 (GRCm39) |
M90K |
probably damaging |
Het |
| Chd3 |
A |
T |
11: 69,239,877 (GRCm39) |
D1650E |
probably benign |
Het |
| Chd9 |
C |
T |
8: 91,760,615 (GRCm39) |
P2120L |
probably benign |
Het |
| Clca3a2 |
T |
C |
3: 144,783,699 (GRCm39) |
T639A |
probably damaging |
Het |
| Cluh |
G |
T |
11: 74,551,328 (GRCm39) |
|
probably benign |
Het |
| Cnga1 |
C |
T |
5: 72,776,404 (GRCm39) |
V20I |
possibly damaging |
Het |
| Col11a2 |
A |
T |
17: 34,271,143 (GRCm39) |
D528V |
probably damaging |
Het |
| Cyfip2 |
A |
G |
11: 46,133,270 (GRCm39) |
L810P |
probably damaging |
Het |
| D430041D05Rik |
A |
G |
2: 103,979,175 (GRCm39) |
V2084A |
probably damaging |
Het |
| Dcc |
G |
A |
18: 71,943,941 (GRCm39) |
H237Y |
possibly damaging |
Het |
| Ddx60 |
T |
A |
8: 62,393,679 (GRCm39) |
F38L |
probably damaging |
Het |
| Dio2 |
T |
C |
12: 90,696,597 (GRCm39) |
*130W |
probably null |
Het |
| Dock5 |
G |
T |
14: 68,031,459 (GRCm39) |
F990L |
probably benign |
Het |
| Dpy19l1 |
A |
T |
9: 24,393,331 (GRCm39) |
V146E |
probably damaging |
Het |
| Dscam |
T |
C |
16: 96,411,549 (GRCm39) |
T1776A |
probably benign |
Het |
| Enpep |
C |
T |
3: 129,092,587 (GRCm39) |
S532N |
probably benign |
Het |
| Gdf6 |
A |
G |
4: 9,860,025 (GRCm39) |
D369G |
probably damaging |
Het |
| Gtf2b |
T |
C |
3: 142,477,144 (GRCm39) |
|
probably benign |
Het |
| Hmbox1 |
A |
G |
14: 65,066,028 (GRCm39) |
|
probably benign |
Het |
| Hps3 |
C |
A |
3: 20,066,947 (GRCm39) |
V540F |
possibly damaging |
Het |
| Hsd3b6 |
T |
A |
3: 98,713,553 (GRCm39) |
I249F |
possibly damaging |
Het |
| Hunk |
T |
A |
16: 90,229,388 (GRCm39) |
|
probably null |
Het |
| Kidins220 |
T |
A |
12: 25,107,422 (GRCm39) |
L1625Q |
probably damaging |
Het |
| Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
| Myo10 |
T |
A |
15: 25,722,345 (GRCm39) |
L186Q |
probably benign |
Het |
| N4bp2 |
T |
A |
5: 65,948,224 (GRCm39) |
W285R |
probably damaging |
Het |
| Nat8l |
T |
C |
5: 34,155,716 (GRCm39) |
L124P |
probably damaging |
Het |
| Nemp2 |
T |
C |
1: 52,680,225 (GRCm39) |
|
probably null |
Het |
| Nkain2 |
G |
A |
10: 32,205,813 (GRCm39) |
T74I |
possibly damaging |
Het |
| Nol4 |
A |
G |
18: 22,956,466 (GRCm39) |
S239P |
probably damaging |
Het |
| Or4c118 |
T |
A |
2: 88,975,301 (GRCm39) |
E22V |
probably benign |
Het |
| Pcbp3 |
T |
C |
10: 76,625,589 (GRCm39) |
I152V |
possibly damaging |
Het |
| Pcp4l1 |
G |
T |
1: 171,003,174 (GRCm39) |
P10Q |
probably damaging |
Het |
| Pla1a |
T |
C |
16: 38,235,730 (GRCm39) |
N135D |
probably damaging |
Het |
| Prc1 |
T |
C |
7: 79,962,032 (GRCm39) |
V73A |
probably benign |
Het |
| Prkd2 |
T |
A |
7: 16,603,490 (GRCm39) |
W807R |
probably damaging |
Het |
| Prp2rt |
G |
T |
13: 97,235,730 (GRCm39) |
R6S |
probably damaging |
Het |
| Ptprb |
C |
T |
10: 116,150,943 (GRCm39) |
|
probably benign |
Het |
| Rb1cc1 |
A |
G |
1: 6,319,559 (GRCm39) |
I993V |
probably benign |
Het |
| Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
| Rev3l |
T |
C |
10: 39,704,092 (GRCm39) |
V2046A |
probably benign |
Het |
| Rnpep |
G |
T |
1: 135,199,355 (GRCm39) |
N334K |
probably damaging |
Het |
| Sarm1 |
G |
A |
11: 78,366,115 (GRCm39) |
P695S |
probably damaging |
Het |
| Sf3a3 |
C |
T |
4: 124,612,136 (GRCm39) |
T131I |
possibly damaging |
Het |
| Slc38a10 |
A |
T |
11: 120,023,567 (GRCm39) |
V283E |
probably damaging |
Het |
| Slco6c1 |
A |
T |
1: 97,000,595 (GRCm39) |
L552* |
probably null |
Het |
| Tas2r136 |
T |
C |
6: 132,754,495 (GRCm39) |
M211V |
probably benign |
Het |
| Tax1bp3 |
G |
A |
11: 73,071,947 (GRCm39) |
D65N |
probably damaging |
Het |
| Tdrd5 |
A |
G |
1: 156,129,209 (GRCm39) |
F167S |
probably damaging |
Het |
| Tfeb |
G |
A |
17: 48,100,590 (GRCm39) |
V269M |
probably damaging |
Het |
| Tspan12 |
A |
T |
6: 21,799,887 (GRCm39) |
F153L |
probably benign |
Het |
| Txnrd1 |
T |
G |
10: 82,717,573 (GRCm39) |
L186V |
probably damaging |
Het |
| Upk1b |
A |
T |
16: 38,600,499 (GRCm39) |
C160* |
probably null |
Het |
| Uty |
T |
C |
Y: 1,176,541 (GRCm39) |
Q172R |
probably damaging |
Het |
| Vmn1r23 |
T |
C |
6: 57,903,437 (GRCm39) |
K114E |
possibly damaging |
Het |
| Vmn2r99 |
T |
G |
17: 19,598,253 (GRCm39) |
N92K |
probably damaging |
Het |
| Vstm2a |
T |
A |
11: 16,213,191 (GRCm39) |
M192K |
probably benign |
Het |
| Zc3h12c |
A |
G |
9: 52,027,721 (GRCm39) |
V547A |
probably benign |
Het |
| Zfp944 |
T |
A |
17: 22,558,809 (GRCm39) |
N146I |
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 |
|
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'- TAAGACTCAGATCCTGCCCC -3'
(R):5'- GTGATCTTGGCCAACTCCTC -3'
Sequencing Primer
(F):5'- TCTGGATAGGTGTAGCCCC -3'
(R):5'- ATTCCACCTTGCCTACCTGCAG -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation