Incidental Mutation 'R9765:Plb1'
| ID |
733195 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plb1
|
| Ensembl Gene |
ENSMUSG00000029134 |
| Gene Name |
phospholipase B1 |
| Synonyms |
4632413E21Rik, 4930433E17Rik, 4930539A06Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R9765 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
32390035-32521700 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 32512731 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1363
(M1363K)
|
| 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: M1363K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098927
Gene: ENSMUSG00000029134
AA Change: M1363K
| 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: M1363K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144040
Gene: ENSMUSG00000029134
AA Change: M1363K
| 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: 99.9%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.6%
|
| Validation Efficiency |
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,404,829 (GRCm39) |
V25I |
probably benign |
Het |
| Actr1b |
T |
A |
1: 36,741,677 (GRCm39) |
H65L |
probably benign |
Het |
| Adgrf5 |
G |
A |
17: 43,748,491 (GRCm39) |
G440E |
probably damaging |
Het |
| Ash1l |
T |
A |
3: 88,930,500 (GRCm39) |
D1992E |
probably damaging |
Het |
| Cacng4 |
A |
G |
11: 107,632,809 (GRCm39) |
F81S |
probably damaging |
Het |
| Cdca8 |
A |
G |
4: 124,814,122 (GRCm39) |
I223T |
probably benign |
Het |
| Cdh19 |
A |
G |
1: 110,823,111 (GRCm39) |
|
probably null |
Het |
| Ces2f |
A |
G |
8: 105,676,678 (GRCm39) |
D124G |
probably damaging |
Het |
| Cks1brt |
A |
G |
8: 85,898,234 (GRCm39) |
Y29C |
probably damaging |
Het |
| Cntnap4 |
T |
C |
8: 113,484,110 (GRCm39) |
S388P |
probably benign |
Het |
| Cntnap4 |
T |
C |
8: 113,568,496 (GRCm39) |
I844T |
probably damaging |
Het |
| Col4a3 |
G |
A |
1: 82,646,678 (GRCm39) |
W396* |
probably null |
Het |
| Cul9 |
A |
T |
17: 46,850,224 (GRCm39) |
S449T |
probably benign |
Het |
| Cux2 |
G |
A |
5: 122,007,195 (GRCm39) |
P822L |
probably benign |
Het |
| Cyp3a13 |
G |
C |
5: 137,909,883 (GRCm39) |
P147A |
probably damaging |
Het |
| Dennd2a |
C |
T |
6: 39,473,907 (GRCm39) |
|
probably null |
Het |
| Dgkg |
T |
C |
16: 22,298,157 (GRCm39) |
M743V |
possibly damaging |
Het |
| Dhx35 |
C |
T |
2: 158,671,501 (GRCm39) |
R311W |
probably benign |
Het |
| Dnase1l2 |
A |
T |
17: 24,660,049 (GRCm39) |
V273E |
probably damaging |
Het |
| Dock8 |
T |
G |
19: 25,146,832 (GRCm39) |
I1437S |
possibly damaging |
Het |
| Dpy19l3 |
T |
C |
7: 35,408,056 (GRCm39) |
D450G |
probably benign |
Het |
| Dsg4 |
G |
A |
18: 20,604,334 (GRCm39) |
V934I |
probably benign |
Het |
| Eef2 |
T |
A |
10: 81,015,010 (GRCm39) |
F236L |
possibly damaging |
Het |
| Eml4 |
A |
G |
17: 83,747,498 (GRCm39) |
I247V |
probably damaging |
Het |
| Evi5 |
A |
C |
5: 107,947,120 (GRCm39) |
C451G |
probably benign |
Het |
| Fam124a |
T |
G |
14: 62,824,883 (GRCm39) |
W126G |
probably damaging |
Het |
| Fbxw21 |
A |
G |
9: 108,975,625 (GRCm39) |
I257T |
possibly damaging |
Het |
| Fn3krp |
A |
G |
11: 121,312,304 (GRCm39) |
K6E |
probably benign |
Het |
| Gcn1 |
G |
A |
5: 115,735,131 (GRCm39) |
W1149* |
probably null |
Het |
| Glud1 |
C |
T |
14: 34,060,795 (GRCm39) |
R453* |
probably null |
Het |
| Gtf2f1 |
G |
A |
17: 57,318,125 (GRCm39) |
|
probably benign |
Het |
| Gtpbp4 |
T |
A |
13: 9,024,994 (GRCm39) |
D532V |
probably benign |
Het |
| Ifnar2 |
G |
A |
16: 91,184,975 (GRCm39) |
R122H |
possibly damaging |
Het |
| Ift70b |
A |
T |
2: 75,768,467 (GRCm39) |
Y95* |
probably null |
Het |
| Ipo11 |
A |
G |
13: 107,061,556 (GRCm39) |
W35R |
probably damaging |
Het |
| Iqgap3 |
G |
A |
3: 88,017,361 (GRCm39) |
R1115Q |
possibly damaging |
Het |
| Kifc5b |
A |
G |
17: 27,142,239 (GRCm39) |
E239G |
probably damaging |
Het |
| Map3k7 |
A |
T |
4: 32,019,519 (GRCm39) |
E553D |
probably damaging |
Het |
| Mdh1 |
G |
T |
11: 21,512,926 (GRCm39) |
S146* |
probably null |
Het |
| Muc16 |
C |
A |
9: 18,548,494 (GRCm39) |
W5933L |
probably benign |
Het |
| Myo16 |
C |
A |
8: 10,620,401 (GRCm39) |
P1651T |
probably damaging |
Het |
| Naip5 |
C |
G |
13: 100,367,269 (GRCm39) |
A276P |
probably damaging |
Het |
| Noxo1 |
G |
T |
17: 24,915,386 (GRCm39) |
|
probably benign |
Het |
| Or4k49 |
T |
A |
2: 111,495,230 (GRCm39) |
Y220N |
probably benign |
Het |
| Pcdhgb6 |
A |
T |
18: 37,876,054 (GRCm39) |
N254I |
possibly damaging |
Het |
| Peli3 |
A |
T |
19: 4,991,850 (GRCm39) |
C30* |
probably null |
Het |
| Ppp4r4 |
G |
T |
12: 103,550,346 (GRCm39) |
E257* |
probably null |
Het |
| Rbm20 |
T |
G |
19: 53,840,060 (GRCm39) |
S1016R |
probably benign |
Het |
| Rcn1 |
A |
T |
2: 105,225,026 (GRCm39) |
L143Q |
possibly damaging |
Het |
| Retreg1 |
G |
A |
15: 25,940,985 (GRCm39) |
G3D |
unknown |
Het |
| Rrm2 |
A |
G |
12: 24,758,956 (GRCm39) |
N65D |
probably benign |
Het |
| Samhd1 |
G |
T |
2: 156,965,219 (GRCm39) |
H199N |
probably damaging |
Het |
| Slain2 |
T |
A |
5: 73,114,969 (GRCm39) |
L400* |
probably null |
Het |
| Slc26a7 |
A |
T |
4: 14,522,862 (GRCm39) |
M486K |
probably benign |
Het |
| Slc30a4 |
A |
T |
2: 122,536,456 (GRCm39) |
Y133N |
probably damaging |
Het |
| Spef2 |
A |
T |
15: 9,601,945 (GRCm39) |
F1439Y |
unknown |
Het |
| Srpra |
T |
C |
9: 35,122,670 (GRCm39) |
V29A |
possibly damaging |
Het |
| St3gal1 |
T |
C |
15: 66,981,499 (GRCm39) |
T226A |
possibly damaging |
Het |
| Tas2r136 |
T |
A |
6: 132,754,813 (GRCm39) |
I105F |
probably benign |
Het |
| Tmem208 |
A |
G |
8: 106,061,506 (GRCm39) |
*177W |
probably null |
Het |
| Utrn |
T |
A |
10: 12,610,921 (GRCm39) |
N478I |
probably damaging |
Het |
| Zbtb37 |
T |
C |
1: 160,859,432 (GRCm39) |
Y291C |
probably damaging |
Het |
| Zc3h3 |
T |
G |
15: 75,709,459 (GRCm39) |
H470P |
probably benign |
Het |
| Zfp40 |
A |
T |
17: 23,395,863 (GRCm39) |
Y241* |
probably null |
Het |
| Zfp457 |
T |
C |
13: 67,440,874 (GRCm39) |
N567S |
probably benign |
Het |
| Zfp458 |
C |
T |
13: 67,408,217 (GRCm39) |
V33M |
probably damaging |
Het |
| Zfp953 |
A |
T |
13: 67,491,478 (GRCm39) |
I158N |
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 |
|
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 |
|
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'- AGAGTGTCATTTTCAGGACAGTG -3'
(R):5'- TAGGATAGCCAACGTGTGCC -3'
Sequencing Primer
(F):5'- TGAAGATTTTCCCACCAGTGTCTGG -3'
(R):5'- CCTGGGGCACATACACCAG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation