Incidental Mutation 'R8560:Plb1'
| ID |
660977 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plb1
|
| Ensembl Gene |
ENSMUSG00000029134 |
| Gene Name |
phospholipase B1 |
| Synonyms |
4632413E21Rik, 4930433E17Rik, 4930539A06Rik |
| MMRRC Submission |
068523-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R8560 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
32390035-32521700 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32460023 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 421
(V421A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144401
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101376]
[ENSMUST00000202201]
[ENSMUST00000202220]
|
| AlphaFold |
Q3TTY0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101376
AA Change: V421A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000098927
Gene: ENSMUSG00000029134
AA Change: V421A
| 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 |
possibly damaging
Transcript: ENSMUST00000202201
AA Change: V421A
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000144401
Gene: ENSMUSG00000029134
AA Change: V421A
| 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: V421A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000144040
Gene: ENSMUSG00000029134
AA Change: V421A
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
| Validation Efficiency |
98% (62/63) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
T |
C |
6: 86,958,374 (GRCm39) |
V819A |
unknown |
Het |
| Ahi1 |
T |
C |
10: 20,835,814 (GRCm39) |
V49A |
probably benign |
Het |
| BB014433 |
GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG |
GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG |
8: 15,092,160 (GRCm39) |
|
probably benign |
Het |
| Ccdc87 |
C |
T |
19: 4,891,901 (GRCm39) |
R798W |
probably damaging |
Het |
| Cd163 |
T |
C |
6: 124,294,360 (GRCm39) |
L506S |
possibly damaging |
Het |
| Chsy3 |
T |
C |
18: 59,543,130 (GRCm39) |
V756A |
possibly damaging |
Het |
| Cisd3 |
G |
T |
11: 97,576,689 (GRCm39) |
W5L |
possibly damaging |
Het |
| Coro1c |
A |
T |
5: 113,984,249 (GRCm39) |
H339Q |
probably damaging |
Het |
| Cybc1 |
G |
T |
11: 121,115,041 (GRCm39) |
A154D |
probably damaging |
Het |
| D630045J12Rik |
T |
A |
6: 38,126,649 (GRCm39) |
I1454F |
probably damaging |
Het |
| Dab2ip |
T |
C |
2: 35,603,144 (GRCm39) |
S448P |
probably damaging |
Het |
| Dennd5a |
A |
G |
7: 109,533,898 (GRCm39) |
|
probably null |
Het |
| Depdc1a |
A |
G |
3: 159,219,912 (GRCm39) |
K139E |
probably damaging |
Het |
| Dock6 |
T |
C |
9: 21,714,132 (GRCm39) |
K1874R |
probably benign |
Het |
| Dst |
A |
G |
1: 34,307,970 (GRCm39) |
H4229R |
probably damaging |
Het |
| Esyt3 |
T |
C |
9: 99,202,375 (GRCm39) |
D512G |
probably damaging |
Het |
| Fastkd5 |
T |
A |
2: 130,457,865 (GRCm39) |
I242L |
probably benign |
Het |
| Foxo3 |
G |
A |
10: 42,151,278 (GRCm39) |
T51M |
possibly damaging |
Het |
| Gcfc2 |
T |
C |
6: 81,900,863 (GRCm39) |
V59A |
possibly damaging |
Het |
| Gm14410 |
C |
A |
2: 176,885,445 (GRCm39) |
C273F |
probably damaging |
Het |
| Gucy1b1 |
G |
T |
3: 81,942,685 (GRCm39) |
P486T |
probably damaging |
Het |
| Hydin |
A |
G |
8: 111,265,106 (GRCm39) |
N2763S |
probably benign |
Het |
| Ifna2 |
C |
A |
4: 88,601,502 (GRCm39) |
W172L |
possibly damaging |
Het |
| Igkv6-29 |
T |
C |
6: 70,115,651 (GRCm39) |
N48D |
probably benign |
Het |
| Il17ra |
C |
A |
6: 120,459,226 (GRCm39) |
D792E |
possibly damaging |
Het |
| Kcnh5 |
G |
T |
12: 75,023,379 (GRCm39) |
A563E |
probably damaging |
Het |
| Klra4 |
C |
A |
6: 130,042,235 (GRCm39) |
V11L |
probably benign |
Het |
| Krt13 |
T |
C |
11: 100,009,676 (GRCm39) |
E368G |
possibly damaging |
Het |
| Lrpprc |
T |
A |
17: 85,047,495 (GRCm39) |
|
probably benign |
Het |
| Mal2 |
T |
C |
15: 54,461,826 (GRCm39) |
I107T |
probably benign |
Het |
| Mc4r |
T |
C |
18: 66,992,166 (GRCm39) |
I316V |
possibly damaging |
Het |
| Mdn1 |
T |
A |
4: 32,743,830 (GRCm39) |
V4022E |
probably benign |
Het |
| Med12l |
A |
G |
3: 58,945,026 (GRCm39) |
N84D |
probably damaging |
Het |
| Mx1 |
T |
G |
16: 97,253,987 (GRCm39) |
T298P |
probably damaging |
Het |
| Myh7 |
T |
C |
14: 55,213,405 (GRCm39) |
E1367G |
possibly damaging |
Het |
| Myh7b |
A |
G |
2: 155,465,124 (GRCm39) |
E660G |
possibly damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,274,316 (GRCm39) |
N242K |
probably benign |
Het |
| Nsun5 |
A |
G |
5: 135,404,743 (GRCm39) |
T435A |
probably benign |
Het |
| Or14j4 |
C |
T |
17: 37,920,949 (GRCm39) |
S231N |
possibly damaging |
Het |
| Or4q3 |
T |
A |
14: 50,583,794 (GRCm39) |
D4V |
probably benign |
Het |
| Or5b109 |
T |
C |
19: 13,211,656 (GRCm39) |
L14P |
possibly damaging |
Het |
| Pcdhb17 |
C |
T |
18: 37,619,206 (GRCm39) |
T332M |
possibly damaging |
Het |
| Pi4k2a |
C |
T |
19: 42,089,151 (GRCm39) |
Q171* |
probably null |
Het |
| Prkag2 |
TTTTTTTTTTTTA |
T |
5: 25,071,063 (GRCm39) |
|
probably benign |
Het |
| Prlhr |
A |
G |
19: 60,456,635 (GRCm39) |
|
probably benign |
Het |
| Prpf8 |
T |
A |
11: 75,382,600 (GRCm39) |
C435* |
probably null |
Het |
| Rnf183 |
T |
A |
4: 62,346,735 (GRCm39) |
N21I |
probably damaging |
Het |
| Rnf41 |
T |
A |
10: 128,274,222 (GRCm39) |
C291* |
probably null |
Het |
| Shd |
T |
C |
17: 56,278,616 (GRCm39) |
S60P |
probably benign |
Het |
| Slc16a5 |
A |
G |
11: 115,360,545 (GRCm39) |
T243A |
probably benign |
Het |
| Slc33a1 |
A |
T |
3: 63,850,773 (GRCm39) |
I517N |
possibly damaging |
Het |
| Slc4a1 |
A |
C |
11: 102,244,083 (GRCm39) |
M682R |
possibly damaging |
Het |
| Sphk2 |
A |
T |
7: 45,361,514 (GRCm39) |
N245K |
probably damaging |
Het |
| Stx7 |
T |
C |
10: 24,057,454 (GRCm39) |
I160T |
possibly damaging |
Het |
| Thbs4 |
T |
C |
13: 92,891,608 (GRCm39) |
I836V |
probably damaging |
Het |
| Tmc5 |
A |
T |
7: 118,268,514 (GRCm39) |
N861Y |
probably damaging |
Het |
| Trappc5 |
T |
A |
8: 3,729,303 (GRCm39) |
W94R |
probably damaging |
Het |
| Trmt44 |
T |
C |
5: 35,715,295 (GRCm39) |
I673V |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,571,615 (GRCm39) |
Y26426C |
probably damaging |
Het |
| Wdr81 |
C |
T |
11: 75,336,260 (GRCm39) |
G591R |
|
Het |
| Zfp236 |
G |
A |
18: 82,664,340 (GRCm39) |
R482W |
probably damaging |
Het |
| Zfp51 |
T |
A |
17: 21,685,635 (GRCm39) |
M750K |
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 |
|
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 |
|
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'- ATATCCACAGGGTGTTCCATCTG -3'
(R):5'- ATGTGCACGTTTAACCCTCC -3'
Sequencing Primer
(F):5'- CACAGGGTGTTCCATCTGGATTC -3'
(R):5'- CCTGTCCAGGCAACACTACCTC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation