Incidental Mutation 'R1804:Plb1'
| ID |
203368 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plb1
|
| Ensembl Gene |
ENSMUSG00000029134 |
| Gene Name |
phospholipase B1 |
| Synonyms |
4632413E21Rik, 4930433E17Rik, 4930539A06Rik |
| MMRRC Submission |
039834-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R1804 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
32390035-32521700 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32511041 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 1302
(N1302S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144040
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101376]
[ENSMUST00000202220]
|
| AlphaFold |
Q3TTY0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000101376
AA Change: N1302S
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000098927
Gene: ENSMUSG00000029134
AA Change: N1302S
| 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: ENSMUST00000202220
AA Change: N1302S
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000144040
Gene: ENSMUSG00000029134
AA Change: N1302S
| 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: ENSMUST00000202687
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202688
|
| Meta Mutation Damage Score |
0.4066 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.7%
- 10x: 94.5%
- 20x: 89.8%
|
| Validation Efficiency |
96% (77/80) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700056E22Rik |
A |
G |
1: 183,765,400 (GRCm39) |
Y220H |
probably benign |
Het |
| 4930579C12Rik |
T |
C |
9: 89,034,113 (GRCm39) |
|
noncoding transcript |
Het |
| Abcc8 |
T |
C |
7: 45,769,903 (GRCm39) |
S871G |
probably benign |
Het |
| Acly |
T |
C |
11: 100,406,731 (GRCm39) |
Y288C |
probably damaging |
Het |
| Adgrb1 |
T |
A |
15: 74,401,389 (GRCm39) |
D128E |
probably damaging |
Het |
| Alms1 |
C |
T |
6: 85,598,257 (GRCm39) |
Q1497* |
probably null |
Het |
| Bltp2 |
A |
G |
11: 78,164,295 (GRCm39) |
H1165R |
probably damaging |
Het |
| Cacna1c |
G |
A |
6: 118,664,007 (GRCm39) |
T688M |
probably damaging |
Het |
| Ccdc7a |
A |
T |
8: 129,715,247 (GRCm39) |
L279* |
probably null |
Het |
| Cep135 |
A |
G |
5: 76,784,779 (GRCm39) |
E958G |
probably benign |
Het |
| Clec4n |
G |
T |
6: 123,206,981 (GRCm39) |
V2L |
possibly damaging |
Het |
| Col28a1 |
C |
T |
6: 8,164,612 (GRCm39) |
|
probably null |
Het |
| Dcaf5 |
A |
G |
12: 80,386,603 (GRCm39) |
S508P |
probably benign |
Het |
| Dlgap2 |
C |
A |
8: 14,777,809 (GRCm39) |
N351K |
possibly damaging |
Het |
| Dnah8 |
T |
A |
17: 30,927,381 (GRCm39) |
Y1346N |
probably benign |
Het |
| Dqx1 |
T |
C |
6: 83,037,303 (GRCm39) |
V322A |
probably damaging |
Het |
| Ebf3 |
A |
C |
7: 136,802,250 (GRCm39) |
L412V |
possibly damaging |
Het |
| Epha5 |
T |
C |
5: 84,479,674 (GRCm39) |
N110S |
probably benign |
Het |
| Fcgbp |
T |
C |
7: 27,785,564 (GRCm39) |
C334R |
probably benign |
Het |
| Glp1r |
T |
A |
17: 31,149,687 (GRCm39) |
|
probably null |
Het |
| Gm4952 |
G |
T |
19: 12,595,784 (GRCm39) |
R58L |
probably damaging |
Het |
| Gm7579 |
G |
A |
7: 141,765,675 (GRCm39) |
C27Y |
unknown |
Het |
| Golm1 |
T |
A |
13: 59,790,203 (GRCm39) |
|
probably null |
Het |
| Gucy2g |
T |
A |
19: 55,198,741 (GRCm39) |
I801F |
probably benign |
Het |
| H2-D1 |
T |
C |
17: 35,482,528 (GRCm39) |
Y83H |
probably damaging |
Het |
| Homez |
A |
T |
14: 55,094,598 (GRCm39) |
I19N |
probably damaging |
Het |
| Hoxa5 |
T |
C |
6: 52,179,628 (GRCm39) |
K249R |
probably damaging |
Het |
| Hsd17b4 |
A |
T |
18: 50,311,051 (GRCm39) |
N550Y |
probably damaging |
Het |
| Ipo4 |
A |
T |
14: 55,866,913 (GRCm39) |
N668K |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Klb |
A |
G |
5: 65,537,196 (GRCm39) |
D842G |
probably damaging |
Het |
| Minar1 |
T |
A |
9: 89,485,152 (GRCm39) |
M82L |
possibly damaging |
Het |
| Mmp21 |
G |
T |
7: 133,280,611 (GRCm39) |
P120T |
probably benign |
Het |
| Mroh7 |
T |
A |
4: 106,551,589 (GRCm39) |
I918F |
possibly damaging |
Het |
| Muc5b |
A |
G |
7: 141,417,517 (GRCm39) |
T3488A |
possibly damaging |
Het |
| Npc1 |
C |
T |
18: 12,356,145 (GRCm39) |
C42Y |
probably damaging |
Het |
| Ogdh |
A |
G |
11: 6,288,565 (GRCm39) |
Y214C |
probably damaging |
Het |
| Or2q1 |
G |
A |
6: 42,795,155 (GRCm39) |
C250Y |
possibly damaging |
Het |
| Or4k15c |
A |
T |
14: 50,321,359 (GRCm39) |
W260R |
probably damaging |
Het |
| Or4k35 |
T |
C |
2: 111,100,275 (GRCm39) |
M146V |
probably benign |
Het |
| Or5al1 |
G |
T |
2: 85,990,417 (GRCm39) |
T99N |
probably benign |
Het |
| Or8d23 |
A |
G |
9: 38,841,946 (GRCm39) |
T160A |
possibly damaging |
Het |
| Phtf1 |
A |
G |
3: 103,894,883 (GRCm39) |
|
probably benign |
Het |
| Prex2 |
A |
G |
1: 11,202,566 (GRCm39) |
K492E |
probably damaging |
Het |
| Prkaa1 |
A |
G |
15: 5,208,259 (GRCm39) |
D509G |
probably benign |
Het |
| Rims2 |
C |
T |
15: 39,300,439 (GRCm39) |
Q57* |
probably null |
Het |
| Rnf40 |
T |
C |
7: 127,195,120 (GRCm39) |
V411A |
possibly damaging |
Het |
| Rraga |
A |
G |
4: 86,494,681 (GRCm39) |
I176V |
probably damaging |
Het |
| Rrm2 |
T |
C |
12: 24,758,611 (GRCm39) |
I51T |
probably benign |
Het |
| Serpina3a |
T |
A |
12: 104,084,675 (GRCm39) |
|
probably benign |
Het |
| Skint7 |
T |
C |
4: 111,839,209 (GRCm39) |
W168R |
probably damaging |
Het |
| Slc27a4 |
A |
G |
2: 29,701,279 (GRCm39) |
M357V |
probably benign |
Het |
| Slc4a3 |
A |
G |
1: 75,528,361 (GRCm39) |
H452R |
probably damaging |
Het |
| Smc1b |
A |
T |
15: 85,011,991 (GRCm39) |
I127K |
possibly damaging |
Het |
| Snap91 |
T |
A |
9: 86,665,470 (GRCm39) |
M383L |
probably benign |
Het |
| Taf6l |
A |
T |
19: 8,750,998 (GRCm39) |
L52Q |
probably damaging |
Het |
| Tas1r3 |
G |
A |
4: 155,944,927 (GRCm39) |
R765C |
probably damaging |
Het |
| Tas2r124 |
A |
G |
6: 132,732,488 (GRCm39) |
I266V |
probably benign |
Het |
| Tesk2 |
T |
C |
4: 116,657,818 (GRCm39) |
|
probably benign |
Het |
| Tmem131l |
T |
G |
3: 83,817,786 (GRCm39) |
Q1237P |
possibly damaging |
Het |
| Tmem67 |
A |
G |
4: 12,045,789 (GRCm39) |
|
probably null |
Het |
| Tnfaip8 |
T |
A |
18: 50,223,728 (GRCm39) |
C179S |
probably damaging |
Het |
| Ush2a |
G |
A |
1: 188,365,926 (GRCm39) |
|
probably null |
Het |
| Vps13b |
A |
T |
15: 35,917,283 (GRCm39) |
E3709V |
probably damaging |
Het |
| Wdr7 |
A |
T |
18: 63,998,511 (GRCm39) |
S1153C |
probably damaging |
Het |
| Zc2hc1b |
A |
C |
10: 13,047,012 (GRCm39) |
|
probably benign |
Het |
| Zfp438 |
A |
G |
18: 5,213,689 (GRCm39) |
I423T |
probably damaging |
Het |
| Zfp592 |
C |
A |
7: 80,673,443 (GRCm39) |
P136T |
probably damaging |
Het |
| Zfp783 |
T |
A |
6: 47,922,819 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp804b |
A |
T |
5: 6,821,756 (GRCm39) |
S400T |
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 |
|
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 |
|
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'- CATTTAGTGGCACAGACTGC -3'
(R):5'- CTGTGTATCATCTGCTCTGAAGG -3'
Sequencing Primer
(F):5'- ACAGACTGCACCATGTGG -3'
(R):5'- ATCATCTGCTCTGAAGGCTGGG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation