Incidental Mutation 'R1801:Plb1'
| ID |
203118 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plb1
|
| Ensembl Gene |
ENSMUSG00000029134 |
| Gene Name |
phospholipase B1 |
| Synonyms |
4930539A06Rik, 4632413E21Rik, 4930433E17Rik |
| MMRRC Submission |
039831-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R1801 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
32232708-32366520 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 32293243 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 376
(D376V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144040
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101376]
[ENSMUST00000202201]
[ENSMUST00000202220]
|
| AlphaFold |
Q3TTY0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101376
AA Change: D376V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000098927
Gene: ENSMUSG00000029134
AA Change: D376V
| 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: ENSMUST00000201313
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202201
AA Change: D376V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144401
Gene: ENSMUSG00000029134
AA Change: D376V
| 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 |
1.3e-20 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202220
AA Change: D376V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144040
Gene: ENSMUSG00000029134
AA Change: D376V
| 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: ENSMUST00000202886
|
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 91.5%
|
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
T |
C |
10: 79,067,396 (GRCm38) |
E362G |
probably damaging |
Het |
| Abcc5 |
T |
C |
16: 20,338,887 (GRCm38) |
M1307V |
probably benign |
Het |
| Adamts9 |
A |
G |
6: 92,863,376 (GRCm38) |
V1142A |
probably benign |
Het |
| Ano10 |
T |
C |
9: 122,253,030 (GRCm38) |
N525S |
probably damaging |
Het |
| Bpifa2 |
T |
C |
2: 154,011,504 (GRCm38) |
|
probably null |
Het |
| C7 |
C |
T |
15: 5,012,021 (GRCm38) |
V468I |
possibly damaging |
Het |
| Carf |
A |
T |
1: 60,141,505 (GRCm38) |
H362L |
possibly damaging |
Het |
| Ccdc171 |
A |
C |
4: 83,546,895 (GRCm38) |
I37L |
probably benign |
Het |
| Ccdc182 |
T |
C |
11: 88,294,190 (GRCm38) |
L32P |
possibly damaging |
Het |
| Celsr3 |
A |
T |
9: 108,834,626 (GRCm38) |
D1678V |
possibly damaging |
Het |
| Col7a1 |
A |
T |
9: 108,960,997 (GRCm38) |
Y920F |
unknown |
Het |
| Cpsf3 |
T |
C |
12: 21,313,790 (GRCm38) |
V627A |
probably benign |
Het |
| D7Ertd443e |
A |
G |
7: 134,270,212 (GRCm38) |
M640T |
probably damaging |
Het |
| Ddi2 |
T |
C |
4: 141,683,972 (GRCm38) |
D543G |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 65,955,297 (GRCm38) |
N2972D |
probably damaging |
Het |
| Dnajc18 |
T |
C |
18: 35,680,804 (GRCm38) |
D304G |
probably damaging |
Het |
| Epg5 |
T |
C |
18: 77,983,490 (GRCm38) |
V1232A |
possibly damaging |
Het |
| Ezr |
T |
C |
17: 6,742,372 (GRCm38) |
T358A |
possibly damaging |
Het |
| Filip1 |
A |
G |
9: 79,815,846 (GRCm38) |
S1164P |
probably damaging |
Het |
| Gm14085 |
C |
T |
2: 122,521,652 (GRCm38) |
R324C |
possibly damaging |
Het |
| Gm5346 |
A |
T |
8: 43,625,917 (GRCm38) |
C423* |
probably null |
Het |
| Gmip |
T |
C |
8: 69,814,477 (GRCm38) |
V341A |
probably benign |
Het |
| Gnb3 |
A |
C |
6: 124,835,636 (GRCm38) |
F286V |
probably benign |
Het |
| Gpatch2 |
T |
A |
1: 187,225,831 (GRCm38) |
S128T |
probably benign |
Het |
| Gpr87 |
T |
C |
3: 59,179,392 (GRCm38) |
R231G |
possibly damaging |
Het |
| Hip1r |
G |
A |
5: 123,998,808 (GRCm38) |
R613Q |
probably benign |
Het |
| Hsd3b7 |
T |
C |
7: 127,803,034 (GRCm38) |
Y284H |
possibly damaging |
Het |
| Il1rap |
A |
T |
16: 26,698,875 (GRCm38) |
D275V |
probably damaging |
Het |
| Il4 |
G |
T |
11: 53,618,538 (GRCm38) |
H23Q |
possibly damaging |
Het |
| Kit |
A |
G |
5: 75,648,393 (GRCm38) |
Y749C |
probably damaging |
Het |
| Klb |
A |
G |
5: 65,349,235 (GRCm38) |
K275R |
probably null |
Het |
| Klhl12 |
G |
T |
1: 134,489,070 (GRCm38) |
R510L |
probably damaging |
Het |
| Lrrc8b |
A |
G |
5: 105,480,823 (GRCm38) |
Y345C |
probably damaging |
Het |
| Med15 |
T |
C |
16: 17,680,735 (GRCm38) |
T98A |
possibly damaging |
Het |
| Mmp1a |
T |
A |
9: 7,475,390 (GRCm38) |
Y387N |
probably damaging |
Het |
| Myrf |
C |
A |
19: 10,214,191 (GRCm38) |
V928L |
probably benign |
Het |
| Nr1d1 |
T |
C |
11: 98,771,499 (GRCm38) |
K134E |
probably damaging |
Het |
| Nrxn3 |
A |
T |
12: 90,283,582 (GRCm38) |
D305V |
probably damaging |
Het |
| Obscn |
A |
C |
11: 58,998,321 (GRCm38) |
S7542A |
unknown |
Het |
| Olfr1197 |
T |
A |
2: 88,729,264 (GRCm38) |
I112F |
probably damaging |
Het |
| Pak4 |
G |
A |
7: 28,565,190 (GRCm38) |
R96C |
probably damaging |
Het |
| Papd5 |
T |
G |
8: 88,250,788 (GRCm38) |
V406G |
probably benign |
Het |
| Pde6b |
A |
T |
5: 108,427,847 (GRCm38) |
D691V |
possibly damaging |
Het |
| Pdss2 |
A |
G |
10: 43,345,605 (GRCm38) |
E171G |
probably benign |
Het |
| Pdzd2 |
C |
T |
15: 12,387,654 (GRCm38) |
V873I |
possibly damaging |
Het |
| Plekhg1 |
T |
C |
10: 3,963,904 (GRCm38) |
Y1209H |
probably damaging |
Het |
| Prickle2 |
A |
G |
6: 92,416,904 (GRCm38) |
C263R |
probably damaging |
Het |
| Psma2 |
A |
T |
13: 14,623,605 (GRCm38) |
Y104F |
probably benign |
Het |
| Ptger4 |
T |
A |
15: 5,242,800 (GRCm38) |
M113L |
possibly damaging |
Het |
| Rgs10 |
T |
G |
7: 128,404,477 (GRCm38) |
D17A |
possibly damaging |
Het |
| Rpap3 |
A |
G |
15: 97,694,209 (GRCm38) |
S189P |
possibly damaging |
Het |
| Rsbn1 |
T |
C |
3: 103,914,872 (GRCm38) |
L102P |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,595,281 (GRCm38) |
S655G |
probably benign |
Het |
| Samd4b |
A |
T |
7: 28,407,331 (GRCm38) |
|
probably null |
Het |
| Sema4a |
C |
T |
3: 88,436,749 (GRCm38) |
D732N |
probably benign |
Het |
| Sh3bp5l |
A |
G |
11: 58,346,351 (GRCm38) |
D378G |
probably benign |
Het |
| Sh3gl3 |
C |
T |
7: 82,284,119 (GRCm38) |
T230I |
possibly damaging |
Het |
| Slc5a1 |
A |
T |
5: 33,146,953 (GRCm38) |
Q299L |
probably damaging |
Het |
| Ssc5d |
C |
A |
7: 4,936,607 (GRCm38) |
H681N |
probably benign |
Het |
| Sugp2 |
T |
C |
8: 70,236,710 (GRCm38) |
S10P |
possibly damaging |
Het |
| Supt5 |
A |
G |
7: 28,317,214 (GRCm38) |
|
probably null |
Het |
| Syna |
A |
G |
5: 134,560,089 (GRCm38) |
V2A |
probably benign |
Het |
| Tcp1 |
T |
A |
17: 12,922,202 (GRCm38) |
Y299* |
probably null |
Het |
| Tenm3 |
C |
A |
8: 48,276,256 (GRCm38) |
V1572L |
probably benign |
Het |
| Trp53rka |
A |
G |
2: 165,491,613 (GRCm38) |
S119P |
probably damaging |
Het |
| Ubr4 |
T |
A |
4: 139,452,563 (GRCm38) |
|
probably null |
Het |
| Uchl4 |
T |
A |
9: 64,235,475 (GRCm38) |
D79E |
probably benign |
Het |
| Vmn2r17 |
C |
A |
5: 109,428,478 (GRCm38) |
T405K |
probably damaging |
Het |
| Xpnpep1 |
A |
G |
19: 53,010,133 (GRCm38) |
L228P |
probably damaging |
Het |
| Xrcc4 |
T |
G |
13: 89,992,579 (GRCm38) |
E170D |
probably damaging |
Het |
| Zfp945 |
T |
C |
17: 22,851,762 (GRCm38) |
T388A |
probably damaging |
Het |
| Zfp947 |
G |
A |
17: 22,146,462 (GRCm38) |
A77V |
probably benign |
Het |
| Zkscan5 |
G |
A |
5: 145,220,205 (GRCm38) |
G433R |
probably damaging |
Het |
|
| Other mutations in Plb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00096:Plb1
|
APN |
5 |
32,345,736 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00542:Plb1
|
APN |
5 |
32,269,834 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL00835:Plb1
|
APN |
5 |
32,364,172 (GRCm38) |
missense |
unknown |
|
|
IGL00954:Plb1
|
APN |
5 |
32,298,514 (GRCm38) |
splice site |
probably benign |
|
|
IGL01350:Plb1
|
APN |
5 |
32,317,064 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01527:Plb1
|
APN |
5 |
32,317,123 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01599:Plb1
|
APN |
5 |
32,342,544 (GRCm38) |
splice site |
probably benign |
|
|
IGL01690:Plb1
|
APN |
5 |
32,313,697 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01813:Plb1
|
APN |
5 |
32,329,085 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01826:Plb1
|
APN |
5 |
32,281,145 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02263:Plb1
|
APN |
5 |
32,321,348 (GRCm38) |
splice site |
probably benign |
|
|
IGL02314:Plb1
|
APN |
5 |
32,281,148 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL02649:Plb1
|
APN |
5 |
32,362,568 (GRCm38) |
missense |
probably benign |
0.09 |
|
IGL02701:Plb1
|
APN |
5 |
32,364,197 (GRCm38) |
missense |
unknown |
|
|
IGL02704:Plb1
|
APN |
5 |
32,353,667 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL03170:Plb1
|
APN |
5 |
32,284,902 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03182:Plb1
|
APN |
5 |
32,344,915 (GRCm38) |
splice site |
probably benign |
|
|
IGL03326:Plb1
|
APN |
5 |
32,331,327 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03046:Plb1
|
UTSW |
5 |
32,328,412 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0013:Plb1
|
UTSW |
5 |
32,349,615 (GRCm38) |
splice site |
probably benign |
|
|
R0013:Plb1
|
UTSW |
5 |
32,349,615 (GRCm38) |
splice site |
probably benign |
|
|
R0034:Plb1
|
UTSW |
5 |
32,273,113 (GRCm38) |
missense |
probably benign |
0.16 |
|
R0034:Plb1
|
UTSW |
5 |
32,273,113 (GRCm38) |
missense |
probably benign |
0.16 |
|
R0330:Plb1
|
UTSW |
5 |
32,355,357 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0413:Plb1
|
UTSW |
5 |
32,355,362 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0721:Plb1
|
UTSW |
5 |
32,364,195 (GRCm38) |
missense |
unknown |
|
|
R0735:Plb1
|
UTSW |
5 |
32,284,920 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R1423:Plb1
|
UTSW |
5 |
32,293,257 (GRCm38) |
missense |
probably benign |
|
|
R1428:Plb1
|
UTSW |
5 |
32,264,912 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R1469:Plb1
|
UTSW |
5 |
32,354,826 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R1469:Plb1
|
UTSW |
5 |
32,354,826 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R1694:Plb1
|
UTSW |
5 |
32,317,277 (GRCm38) |
missense |
probably null |
0.01 |
|
R1804:Plb1
|
UTSW |
5 |
32,353,697 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R1900:Plb1
|
UTSW |
5 |
32,286,847 (GRCm38) |
missense |
probably benign |
0.44 |
|
R1903:Plb1
|
UTSW |
5 |
32,291,238 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2101:Plb1
|
UTSW |
5 |
32,349,660 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2153:Plb1
|
UTSW |
5 |
32,314,089 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2207:Plb1
|
UTSW |
5 |
32,316,640 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R2270:Plb1
|
UTSW |
5 |
32,293,242 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2271:Plb1
|
UTSW |
5 |
32,293,242 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2311:Plb1
|
UTSW |
5 |
32,269,818 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2850:Plb1
|
UTSW |
5 |
32,293,224 (GRCm38) |
missense |
probably benign |
|
|
R3103:Plb1
|
UTSW |
5 |
32,328,029 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R4444:Plb1
|
UTSW |
5 |
32,330,565 (GRCm38) |
missense |
probably benign |
0.06 |
|
R4559:Plb1
|
UTSW |
5 |
32,332,831 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4577:Plb1
|
UTSW |
5 |
32,247,557 (GRCm38) |
nonsense |
probably null |
|
|
R4578:Plb1
|
UTSW |
5 |
32,247,557 (GRCm38) |
nonsense |
probably null |
|
|
R4739:Plb1
|
UTSW |
5 |
32,349,679 (GRCm38) |
splice site |
probably null |
|
|
R4747:Plb1
|
UTSW |
5 |
32,349,659 (GRCm38) |
missense |
probably benign |
0.08 |
|
R4806:Plb1
|
UTSW |
5 |
32,289,852 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5406:Plb1
|
UTSW |
5 |
32,341,915 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5567:Plb1
|
UTSW |
5 |
32,364,199 (GRCm38) |
missense |
unknown |
|
|
R5574:Plb1
|
UTSW |
5 |
32,329,947 (GRCm38) |
missense |
probably benign |
0.13 |
|
R5588:Plb1
|
UTSW |
5 |
32,329,949 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5619:Plb1
|
UTSW |
5 |
32,333,497 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5769:Plb1
|
UTSW |
5 |
32,317,522 (GRCm38) |
missense |
probably benign |
0.05 |
|
R6366:Plb1
|
UTSW |
5 |
32,314,085 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R6700:Plb1
|
UTSW |
5 |
32,333,464 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7162:Plb1
|
UTSW |
5 |
32,349,663 (GRCm38) |
missense |
probably benign |
0.30 |
|
R7379:Plb1
|
UTSW |
5 |
32,345,639 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7395:Plb1
|
UTSW |
5 |
32,353,684 (GRCm38) |
missense |
probably benign |
0.30 |
|
R7426:Plb1
|
UTSW |
5 |
32,321,247 (GRCm38) |
splice site |
probably null |
|
|
R7643:Plb1
|
UTSW |
5 |
32,247,557 (GRCm38) |
nonsense |
probably null |
|
|
R7657:Plb1
|
UTSW |
5 |
32,329,867 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7780:Plb1
|
UTSW |
5 |
32,326,266 (GRCm38) |
splice site |
probably null |
|
|
R8040:Plb1
|
UTSW |
5 |
32,273,069 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R8212:Plb1
|
UTSW |
5 |
32,264,906 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8312:Plb1
|
UTSW |
5 |
32,328,485 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8560:Plb1
|
UTSW |
5 |
32,302,679 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R8770:Plb1
|
UTSW |
5 |
32,247,509 (GRCm38) |
missense |
unknown |
|
|
R8857:Plb1
|
UTSW |
5 |
32,364,212 (GRCm38) |
missense |
unknown |
|
|
R9029:Plb1
|
UTSW |
5 |
32,281,735 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9110:Plb1
|
UTSW |
5 |
32,364,058 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9765:Plb1
|
UTSW |
5 |
32,355,387 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0018:Plb1
|
UTSW |
5 |
32,285,883 (GRCm38) |
missense |
probably benign |
0.01 |
|
X0019:Plb1
|
UTSW |
5 |
32,353,697 (GRCm38) |
missense |
probably damaging |
0.99 |
|
X0027:Plb1
|
UTSW |
5 |
32,270,358 (GRCm38) |
missense |
probably benign |
|
|
X0028:Plb1
|
UTSW |
5 |
32,302,675 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1088:Plb1
|
UTSW |
5 |
32,310,917 (GRCm38) |
missense |
probably benign |
|
|
Z1088:Plb1
|
UTSW |
5 |
32,310,847 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Z1177:Plb1
|
UTSW |
5 |
32,284,897 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGCCTGAGCTCATGTGAAG -3'
(R):5'- AGAGCCATAAATGCTGTCCTAGG -3'
Sequencing Primer
(F):5'- CCTGAGCTCATGTGAAGGAGGC -3'
(R):5'- ATAAATGCTGTCCTAGGCCATC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation