Incidental Mutation 'R7643:Plb1'
| ID |
590342 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plb1
|
| Ensembl Gene |
ENSMUSG00000029134 |
| Gene Name |
phospholipase B1 |
| Synonyms |
4930539A06Rik, 4632413E21Rik, 4930433E17Rik |
| MMRRC Submission |
045700-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R7643 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
32232708-32366520 bp(+) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 32247557 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 20
(Q20*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144040
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101376]
[ENSMUST00000202201]
[ENSMUST00000202220]
|
| AlphaFold |
Q3TTY0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000101376
AA Change: Q20*
|
| SMART Domains |
Protein: ENSMUSP00000098927
Gene: ENSMUSG00000029134
AA Change: Q20*
| 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: ENSMUST00000200878
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201313
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000202201
AA Change: Q20*
|
| SMART Domains |
Protein: ENSMUSP00000144401
Gene: ENSMUSG00000029134
AA Change: Q20*
| 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 null
Transcript: ENSMUST00000202220
AA Change: Q20*
|
| SMART Domains |
Protein: ENSMUSP00000144040
Gene: ENSMUSG00000029134
AA Change: Q20*
| 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
|
| Meta Mutation Damage Score |
0.9662 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (64/64) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930435E12Rik |
A |
G |
16: 38,827,863 (GRCm38) |
Y295H |
probably benign |
Het |
| 4931406C07Rik |
A |
G |
9: 15,297,860 (GRCm38) |
F46S |
probably damaging |
Het |
| Acaca |
T |
C |
11: 84,338,356 (GRCm38) |
Y1670H |
probably damaging |
Het |
| Acrbp |
G |
A |
6: 125,053,832 (GRCm38) |
R272Q |
possibly damaging |
Het |
| Adcy6 |
T |
A |
15: 98,593,568 (GRCm38) |
Q1050L |
probably benign |
Het |
| Amn1 |
C |
T |
6: 149,185,031 (GRCm38) |
M44I |
probably benign |
Het |
| Ankrd13b |
A |
G |
11: 77,473,085 (GRCm38) |
V395A |
probably benign |
Het |
| Ap3b2 |
T |
C |
7: 81,477,072 (GRCm38) |
K310R |
probably benign |
Het |
| Bnc2 |
T |
C |
4: 84,506,574 (GRCm38) |
D123G |
probably benign |
Het |
| Bst1 |
G |
A |
5: 43,840,449 (GRCm38) |
M263I |
probably benign |
Het |
| Ccdc7a |
C |
T |
8: 128,889,811 (GRCm38) |
G937E |
probably damaging |
Het |
| Cep290 |
A |
G |
10: 100,537,553 (GRCm38) |
M1232V |
probably benign |
Het |
| Cfhr1 |
A |
G |
1: 139,553,585 (GRCm38) |
Y186H |
possibly damaging |
Het |
| Dnah7c |
A |
T |
1: 46,602,813 (GRCm38) |
H1203L |
probably benign |
Het |
| Emc7 |
A |
G |
2: 112,455,279 (GRCm38) |
E71G |
probably benign |
Het |
| Exoc3l4 |
G |
A |
12: 111,421,935 (GRCm38) |
|
probably benign |
Het |
| Fam83c |
A |
G |
2: 155,831,004 (GRCm38) |
F278L |
possibly damaging |
Het |
| Gabpb2 |
C |
A |
3: 95,200,225 (GRCm38) |
V180L |
probably benign |
Het |
| Gbp2b |
G |
T |
3: 142,603,609 (GRCm38) |
Q160H |
probably benign |
Het |
| Gm19965 |
C |
G |
1: 116,822,229 (GRCm38) |
Q547E |
unknown |
Het |
| Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 142,240,713 (GRCm38) |
|
probably benign |
Het |
| Gon4l |
T |
A |
3: 88,902,807 (GRCm38) |
D1774E |
probably damaging |
Het |
| Gpr15 |
A |
C |
16: 58,717,816 (GRCm38) |
Y303* |
probably null |
Het |
| Greb1 |
T |
C |
12: 16,711,996 (GRCm38) |
D461G |
probably damaging |
Het |
| Gria4 |
T |
C |
9: 4,793,950 (GRCm38) |
N36S |
probably benign |
Het |
| Hacd1 |
T |
C |
2: 14,044,791 (GRCm38) |
I119V |
probably damaging |
Het |
| Ing5 |
T |
A |
1: 93,812,433 (GRCm38) |
D101E |
probably damaging |
Het |
| Irak4 |
T |
A |
15: 94,558,828 (GRCm38) |
N297K |
probably benign |
Het |
| Itga7 |
A |
G |
10: 128,953,501 (GRCm38) |
D971G |
probably benign |
Het |
| Klf5 |
A |
G |
14: 99,313,178 (GRCm38) |
E397G |
possibly damaging |
Het |
| Krtap29-1 |
C |
T |
11: 99,978,198 (GRCm38) |
G286S |
probably damaging |
Het |
| Lrp2bp |
A |
T |
8: 46,020,527 (GRCm38) |
|
probably null |
Het |
| March4 |
T |
G |
1: 72,447,220 (GRCm38) |
Q266H |
probably damaging |
Het |
| Med23 |
A |
G |
10: 24,905,965 (GRCm38) |
T1056A |
probably benign |
Het |
| Megf11 |
T |
C |
9: 64,706,632 (GRCm38) |
L1079P |
probably damaging |
Het |
| Mycbp2 |
G |
T |
14: 103,346,265 (GRCm38) |
L85I |
probably benign |
Het |
| Nlgn2 |
G |
T |
11: 69,827,885 (GRCm38) |
Q290K |
probably damaging |
Het |
| Nox4 |
A |
T |
7: 87,323,754 (GRCm38) |
E323V |
probably damaging |
Het |
| Nup93 |
T |
C |
8: 94,286,619 (GRCm38) |
|
probably null |
Het |
| Olfr298 |
C |
T |
7: 86,489,568 (GRCm38) |
|
probably null |
Het |
| Olfr558 |
C |
T |
7: 102,709,538 (GRCm38) |
T93I |
probably benign |
Het |
| Olfr977-ps1 |
T |
A |
9: 39,974,821 (GRCm38) |
M1L |
unknown |
Het |
| Otop3 |
T |
C |
11: 115,339,648 (GRCm38) |
L117P |
probably damaging |
Het |
| Pde6c |
C |
A |
19: 38,141,421 (GRCm38) |
Q260K |
probably damaging |
Het |
| Qser1 |
A |
T |
2: 104,786,977 (GRCm38) |
Y1163* |
probably null |
Het |
| Rbm12 |
A |
T |
2: 156,098,217 (GRCm38) |
I45N |
unknown |
Het |
| Rictor |
T |
A |
15: 6,769,269 (GRCm38) |
Y332* |
probably null |
Het |
| Rpp14 |
C |
A |
14: 8,090,325 (GRCm38) |
S83* |
probably null |
Het |
| Sel1l3 |
C |
T |
5: 53,123,162 (GRCm38) |
|
probably null |
Het |
| Setd2 |
T |
C |
9: 110,567,840 (GRCm38) |
|
probably null |
Het |
| Spink5 |
A |
G |
18: 44,010,252 (GRCm38) |
T759A |
probably benign |
Het |
| Spon2 |
T |
A |
5: 33,217,456 (GRCm38) |
E2V |
probably benign |
Het |
| Tdrd1 |
T |
C |
19: 56,837,708 (GRCm38) |
S144P |
probably damaging |
Het |
| Tex15 |
A |
C |
8: 33,575,120 (GRCm38) |
Y1526S |
probably damaging |
Het |
| Tnfrsf21 |
T |
C |
17: 43,037,916 (GRCm38) |
S140P |
probably benign |
Het |
| Trav6-2 |
T |
A |
14: 52,667,442 (GRCm38) |
M11K |
probably benign |
Het |
| Trp53bp1 |
G |
T |
2: 121,247,814 (GRCm38) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,734,827 (GRCm38) |
N28352S |
possibly damaging |
Het |
| Uckl1 |
T |
C |
2: 181,573,106 (GRCm38) |
I292V |
probably benign |
Het |
| Unc13b |
T |
A |
4: 43,216,333 (GRCm38) |
S211T |
probably benign |
Het |
| Zcchc4 |
T |
C |
5: 52,808,293 (GRCm38) |
I313T |
possibly damaging |
Het |
| Zfp106 |
C |
T |
2: 120,512,734 (GRCm38) |
R1811K |
probably benign |
Het |
| Zfp599 |
G |
T |
9: 22,249,892 (GRCm38) |
Q326K |
probably benign |
Het |
| Zscan4e |
A |
T |
7: 11,309,525 (GRCm38) |
M108K |
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 |
|
R1801:Plb1
|
UTSW |
5 |
32,293,243 (GRCm38) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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'- CATTTACAGCCAGCCACTGC -3'
(R):5'- GAAACTCACATATGCTTATCCCTC -3'
Sequencing Primer
(F):5'- GCCACTGCCCCCTTTCAAAG -3'
(R):5'- ACATATGCTTATCCCTCCCAGAC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation