Incidental Mutation 'R2850:Lpl'
ID |
252092 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lpl
|
Ensembl Gene |
ENSMUSG00000015568 |
Gene Name |
lipoprotein lipase |
Synonyms |
O 1-4-5 |
MMRRC Submission |
040443-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2850 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
69333207-69359584 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 69352164 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Stop codon
at position 372
(E372*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132259
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015712]
[ENSMUST00000168401]
|
AlphaFold |
P11152 |
Predicted Effect |
probably null
Transcript: ENSMUST00000015712
AA Change: E372*
|
SMART Domains |
Protein: ENSMUSP00000015712 Gene: ENSMUSG00000015568 AA Change: E372*
Domain | Start | End | E-Value | Type |
Pfam:Lipase
|
19 |
338 |
7.8e-133 |
PFAM |
LH2
|
341 |
465 |
2.65e-27 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000168401
AA Change: E372*
|
SMART Domains |
Protein: ENSMUSP00000132259 Gene: ENSMUSG00000015568 AA Change: E372*
Domain | Start | End | E-Value | Type |
Pfam:Lipase
|
19 |
338 |
1.1e-117 |
PFAM |
Pfam:Abhydrolase_6
|
76 |
264 |
3e-10 |
PFAM |
LH2
|
341 |
465 |
2.65e-27 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169749
|
Meta Mutation Damage Score |
0.9754 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
Validation Efficiency |
100% (57/57) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] LPL encodes lipoprotein lipase, which is expressed in heart, muscle, and adipose tissue. LPL functions as a homodimer, and has the dual functions of triglyceride hydrolase and ligand/bridging factor for receptor-mediated lipoprotein uptake. Severe mutations that cause LPL deficiency result in type I hyperlipoproteinemia, while less extreme mutations in LPL are linked to many disorders of lipoprotein metabolism. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygotes for targeted null mutations become cyanotic and die within 2 days of birth due to chylomicron engorgement of capillaries. Mutants show hypertriglyceridemia and reduced fat stores. Heterozygotes show 1.5-2-fold elevated triglyceride levels. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn2 |
T |
A |
13: 12,290,065 (GRCm39) |
T734S |
probably damaging |
Het |
Ago1 |
T |
C |
4: 126,336,868 (GRCm39) |
|
probably benign |
Het |
Ahi1 |
C |
T |
10: 20,876,492 (GRCm39) |
T801I |
probably benign |
Het |
Alms1 |
T |
C |
6: 85,598,281 (GRCm39) |
S1505P |
probably benign |
Het |
Alms1 |
C |
A |
6: 85,644,945 (GRCm39) |
|
probably benign |
Het |
Anxa6 |
T |
A |
11: 54,901,852 (GRCm39) |
Y95F |
possibly damaging |
Het |
Cacna1b |
C |
T |
2: 24,651,800 (GRCm39) |
M126I |
probably damaging |
Het |
Clk1 |
A |
G |
1: 58,451,438 (GRCm39) |
L457S |
probably damaging |
Het |
Cngb3 |
T |
C |
4: 19,415,690 (GRCm39) |
I400T |
possibly damaging |
Het |
Cntnap5c |
T |
A |
17: 58,717,343 (GRCm39) |
|
probably benign |
Het |
Corin |
A |
G |
5: 72,462,298 (GRCm39) |
V837A |
probably damaging |
Het |
Ctr9 |
C |
T |
7: 110,652,653 (GRCm39) |
R984C |
unknown |
Het |
Cubn |
G |
A |
2: 13,327,764 (GRCm39) |
T2687I |
probably damaging |
Het |
Cypt3 |
T |
A |
X: 152,342,274 (GRCm39) |
N168K |
probably damaging |
Het |
E330020D12Rik |
A |
G |
1: 153,282,336 (GRCm39) |
|
noncoding transcript |
Het |
Fbxl4 |
T |
C |
4: 22,403,624 (GRCm39) |
M399T |
probably benign |
Het |
Fbxo22 |
T |
C |
9: 55,130,699 (GRCm39) |
F323L |
probably damaging |
Het |
Fnip1 |
A |
T |
11: 54,393,503 (GRCm39) |
E646D |
probably benign |
Het |
Gid4 |
G |
A |
11: 60,329,400 (GRCm39) |
|
probably null |
Het |
Gnb5 |
A |
T |
9: 75,234,511 (GRCm39) |
D70V |
probably damaging |
Het |
Gpank1 |
A |
G |
17: 35,343,557 (GRCm39) |
S346G |
probably benign |
Het |
Gtf3c6 |
T |
C |
10: 40,130,254 (GRCm39) |
|
probably benign |
Het |
Hdx |
T |
C |
X: 110,502,720 (GRCm39) |
I562V |
probably benign |
Het |
Ifrd2 |
T |
C |
9: 107,468,908 (GRCm39) |
|
probably benign |
Het |
Itch |
A |
C |
2: 155,044,141 (GRCm39) |
Q482P |
probably benign |
Het |
Kif11 |
C |
A |
19: 37,397,941 (GRCm39) |
D630E |
probably benign |
Het |
Mrps26 |
T |
C |
2: 130,406,967 (GRCm39) |
V198A |
probably benign |
Het |
Mucl1 |
T |
C |
15: 103,782,348 (GRCm39) |
N201S |
possibly damaging |
Het |
Nedd4 |
C |
T |
9: 72,632,356 (GRCm39) |
L397F |
possibly damaging |
Het |
Nfat5 |
A |
G |
8: 108,020,492 (GRCm39) |
D12G |
probably damaging |
Het |
Or5b102 |
T |
C |
19: 13,040,934 (GRCm39) |
L53P |
probably damaging |
Het |
Pik3r3 |
A |
G |
4: 116,127,981 (GRCm39) |
|
probably benign |
Het |
Pkd1l3 |
T |
A |
8: 110,350,622 (GRCm39) |
V489E |
possibly damaging |
Het |
Pkhd1 |
T |
C |
1: 20,579,300 (GRCm39) |
E1802G |
possibly damaging |
Het |
Plb1 |
T |
A |
5: 32,450,568 (GRCm39) |
S370T |
probably benign |
Het |
Ppat |
G |
A |
5: 77,067,222 (GRCm39) |
T337I |
probably benign |
Het |
Prkd3 |
A |
G |
17: 79,262,025 (GRCm39) |
V763A |
possibly damaging |
Het |
Prr9 |
A |
T |
3: 92,030,476 (GRCm39) |
S55T |
probably benign |
Het |
Rbpms |
G |
T |
8: 34,324,405 (GRCm39) |
N108K |
possibly damaging |
Het |
Rc3h2 |
A |
T |
2: 37,267,427 (GRCm39) |
D972E |
probably benign |
Het |
Rrbp1 |
C |
T |
2: 143,791,269 (GRCm39) |
R1378Q |
probably benign |
Het |
Slc26a7 |
T |
A |
4: 14,593,806 (GRCm39) |
|
probably benign |
Het |
Stard6 |
T |
A |
18: 70,616,522 (GRCm39) |
H60Q |
probably benign |
Het |
Sult6b2 |
T |
C |
6: 142,743,613 (GRCm39) |
T138A |
probably benign |
Het |
Th |
G |
A |
7: 142,447,812 (GRCm39) |
Q329* |
probably null |
Het |
Tmco3 |
A |
G |
8: 13,345,024 (GRCm39) |
H268R |
probably benign |
Het |
Tnn |
T |
C |
1: 159,966,857 (GRCm39) |
D429G |
probably benign |
Het |
Tnrc6a |
G |
A |
7: 122,779,023 (GRCm39) |
G1245R |
probably damaging |
Het |
Trem3 |
C |
A |
17: 48,556,669 (GRCm39) |
L47M |
probably benign |
Het |
Trpm6 |
T |
A |
19: 18,769,454 (GRCm39) |
C307S |
possibly damaging |
Het |
Ube2j1 |
T |
A |
4: 33,049,696 (GRCm39) |
N231K |
probably benign |
Het |
Urb1 |
A |
G |
16: 90,571,144 (GRCm39) |
Y1222H |
probably benign |
Het |
Wdr81 |
A |
T |
11: 75,341,998 (GRCm39) |
S1090T |
probably damaging |
Het |
Ythdf3 |
T |
C |
3: 16,257,982 (GRCm39) |
|
probably benign |
Het |
Zfp280d |
A |
G |
9: 72,219,371 (GRCm39) |
T183A |
probably benign |
Het |
Zfp354c |
G |
A |
11: 50,706,158 (GRCm39) |
Q306* |
probably null |
Het |
Zp2 |
T |
C |
7: 119,737,529 (GRCm39) |
H252R |
probably benign |
Het |
|
Other mutations in Lpl |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00806:Lpl
|
APN |
8 |
69,355,018 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01161:Lpl
|
APN |
8 |
69,345,277 (GRCm39) |
nonsense |
probably null |
|
IGL01370:Lpl
|
APN |
8 |
69,340,220 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL01420:Lpl
|
APN |
8 |
69,340,085 (GRCm39) |
splice site |
probably benign |
|
IGL02034:Lpl
|
APN |
8 |
69,333,424 (GRCm39) |
missense |
possibly damaging |
0.64 |
IGL02227:Lpl
|
APN |
8 |
69,348,452 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02949:Lpl
|
APN |
8 |
69,345,400 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03237:Lpl
|
APN |
8 |
69,347,378 (GRCm39) |
missense |
possibly damaging |
0.90 |
Bensadoun
|
UTSW |
8 |
69,349,459 (GRCm39) |
missense |
probably benign |
0.03 |
R0064:Lpl
|
UTSW |
8 |
69,345,356 (GRCm39) |
missense |
probably damaging |
1.00 |
R0064:Lpl
|
UTSW |
8 |
69,345,356 (GRCm39) |
missense |
probably damaging |
1.00 |
R0490:Lpl
|
UTSW |
8 |
69,349,343 (GRCm39) |
missense |
probably damaging |
0.98 |
R1252:Lpl
|
UTSW |
8 |
69,345,311 (GRCm39) |
missense |
probably benign |
0.03 |
R1331:Lpl
|
UTSW |
8 |
69,349,281 (GRCm39) |
missense |
probably damaging |
0.99 |
R1376:Lpl
|
UTSW |
8 |
69,340,250 (GRCm39) |
missense |
probably damaging |
1.00 |
R1376:Lpl
|
UTSW |
8 |
69,340,250 (GRCm39) |
missense |
probably damaging |
1.00 |
R1444:Lpl
|
UTSW |
8 |
69,345,399 (GRCm39) |
missense |
probably damaging |
0.99 |
R1722:Lpl
|
UTSW |
8 |
69,349,254 (GRCm39) |
frame shift |
probably null |
|
R1826:Lpl
|
UTSW |
8 |
69,354,943 (GRCm39) |
missense |
possibly damaging |
0.62 |
R1867:Lpl
|
UTSW |
8 |
69,349,254 (GRCm39) |
frame shift |
probably null |
|
R1874:Lpl
|
UTSW |
8 |
69,349,271 (GRCm39) |
missense |
probably damaging |
1.00 |
R1970:Lpl
|
UTSW |
8 |
69,349,454 (GRCm39) |
nonsense |
probably null |
|
R2401:Lpl
|
UTSW |
8 |
69,353,895 (GRCm39) |
missense |
possibly damaging |
0.52 |
R2516:Lpl
|
UTSW |
8 |
69,340,170 (GRCm39) |
missense |
probably benign |
0.00 |
R4688:Lpl
|
UTSW |
8 |
69,352,077 (GRCm39) |
missense |
probably damaging |
1.00 |
R4773:Lpl
|
UTSW |
8 |
69,349,403 (GRCm39) |
missense |
probably damaging |
1.00 |
R4962:Lpl
|
UTSW |
8 |
69,347,345 (GRCm39) |
missense |
probably damaging |
1.00 |
R4993:Lpl
|
UTSW |
8 |
69,348,445 (GRCm39) |
missense |
probably benign |
0.23 |
R5343:Lpl
|
UTSW |
8 |
69,348,389 (GRCm39) |
missense |
probably damaging |
1.00 |
R6018:Lpl
|
UTSW |
8 |
69,353,940 (GRCm39) |
missense |
probably benign |
|
R6082:Lpl
|
UTSW |
8 |
69,349,301 (GRCm39) |
missense |
probably damaging |
0.98 |
R6137:Lpl
|
UTSW |
8 |
69,345,399 (GRCm39) |
missense |
probably damaging |
0.99 |
R6589:Lpl
|
UTSW |
8 |
69,349,459 (GRCm39) |
missense |
probably benign |
0.03 |
R7730:Lpl
|
UTSW |
8 |
69,340,100 (GRCm39) |
nonsense |
probably null |
|
R8214:Lpl
|
UTSW |
8 |
69,345,257 (GRCm39) |
missense |
probably damaging |
1.00 |
R8274:Lpl
|
UTSW |
8 |
69,345,250 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8353:Lpl
|
UTSW |
8 |
69,348,433 (GRCm39) |
missense |
probably damaging |
1.00 |
R8453:Lpl
|
UTSW |
8 |
69,348,433 (GRCm39) |
missense |
probably damaging |
1.00 |
R8805:Lpl
|
UTSW |
8 |
69,340,215 (GRCm39) |
missense |
probably damaging |
1.00 |
R8807:Lpl
|
UTSW |
8 |
69,345,280 (GRCm39) |
missense |
probably damaging |
1.00 |
R9323:Lpl
|
UTSW |
8 |
69,340,196 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9395:Lpl
|
UTSW |
8 |
69,353,952 (GRCm39) |
missense |
probably damaging |
0.99 |
R9568:Lpl
|
UTSW |
8 |
69,340,235 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGTCGGAACTGCTTGATGG -3'
(R):5'- TAGGTAAGTGCTCTACCTCCCAG -3'
Sequencing Primer
(F):5'- AACTGCTTGATGGTTGGGGAAC -3'
(R):5'- AGGCTGGCCTTAAACTCTCAG -3'
|
Posted On |
2014-12-04 |