Incidental Mutation 'R6589:Lpl'
| ID |
524516 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lpl
|
| Ensembl Gene |
ENSMUSG00000015568 |
| Gene Name |
lipoprotein lipase |
| Synonyms |
O 1-4-5 |
| MMRRC Submission |
044713-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6589 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
69333207-69359584 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 69349459 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 328
(M328I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132259
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015712]
[ENSMUST00000168401]
|
| AlphaFold |
P11152 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000015712
AA Change: M328I
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000015712
Gene: ENSMUSG00000015568
AA Change: M328I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipase
|
19 |
338 |
7.8e-133 |
PFAM |
|
LH2
|
341 |
465 |
2.65e-27 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168401
AA Change: M328I
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000132259
Gene: ENSMUSG00000015568
AA Change: M328I
| 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 |
0.2110 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (26/26) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd55 |
G |
A |
13: 112,485,397 (GRCm39) |
|
probably null |
Het |
| Asic2 |
G |
T |
11: 80,777,430 (GRCm39) |
A427D |
possibly damaging |
Het |
| B3gnt2 |
T |
A |
11: 22,787,117 (GRCm39) |
I24F |
probably damaging |
Het |
| BC030500 |
T |
C |
8: 59,365,956 (GRCm39) |
|
probably benign |
Het |
| Cdh4 |
G |
A |
2: 179,523,789 (GRCm39) |
|
probably null |
Het |
| Cramp1 |
T |
C |
17: 25,196,466 (GRCm39) |
|
probably null |
Het |
| Fam72a |
A |
T |
1: 131,461,554 (GRCm39) |
I80F |
probably damaging |
Het |
| Fbxo43 |
T |
C |
15: 36,162,686 (GRCm39) |
T174A |
probably damaging |
Het |
| Fgf11 |
C |
A |
11: 69,690,261 (GRCm39) |
V109L |
probably damaging |
Het |
| Fggy |
A |
G |
4: 95,485,875 (GRCm39) |
I74V |
probably benign |
Het |
| Fshr |
T |
C |
17: 89,296,035 (GRCm39) |
D224G |
probably damaging |
Het |
| Gm6465 |
A |
G |
5: 11,898,128 (GRCm39) |
T81A |
possibly damaging |
Het |
| Hdac9 |
T |
C |
12: 34,265,028 (GRCm39) |
E908G |
probably damaging |
Het |
| Hspa4l |
T |
G |
3: 40,711,487 (GRCm39) |
L121V |
probably damaging |
Het |
| Klk1b16 |
A |
G |
7: 43,790,894 (GRCm39) |
D232G |
probably benign |
Het |
| Mgat4a |
T |
C |
1: 37,483,976 (GRCm39) |
E498G |
probably damaging |
Het |
| Mup11 |
T |
A |
4: 60,615,540 (GRCm39) |
Q91L |
possibly damaging |
Het |
| Myoc |
T |
A |
1: 162,476,188 (GRCm39) |
Y297* |
probably null |
Het |
| Or14j5 |
T |
A |
17: 38,161,727 (GRCm39) |
Y81* |
probably null |
Het |
| Semp2l1 |
A |
T |
1: 32,585,792 (GRCm39) |
D39E |
probably benign |
Het |
| Siva1 |
A |
G |
12: 112,613,272 (GRCm39) |
E40G |
probably damaging |
Het |
| Smarca2 |
T |
A |
19: 26,597,284 (GRCm39) |
H55Q |
possibly damaging |
Het |
| Taf1b |
A |
G |
12: 24,606,527 (GRCm39) |
E449G |
possibly damaging |
Het |
| Tafa2 |
T |
A |
10: 123,540,297 (GRCm39) |
V51E |
probably damaging |
Het |
| Tcaf3 |
A |
T |
6: 42,570,995 (GRCm39) |
N252K |
possibly damaging |
Het |
| Trim3 |
A |
G |
7: 105,267,167 (GRCm39) |
L404P |
probably damaging |
Het |
| Vmn2r114 |
T |
C |
17: 23,510,642 (GRCm39) |
T613A |
probably damaging |
Het |
| Vmn2r-ps158 |
T |
A |
7: 42,673,022 (GRCm39) |
S142T |
possibly damaging |
Het |
| Zfp358 |
T |
A |
8: 3,545,907 (GRCm39) |
F163Y |
probably damaging |
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 |
|
R2850:Lpl
|
UTSW |
8 |
69,352,164 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
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'- ACGAGCGCTCCATTCATCTC -3'
(R):5'- TGCTGGTGTGGGAATCAAGAC -3'
Sequencing Primer
(F):5'- CTTCATTGACTCCCTGCTGAATGAAG -3'
(R):5'- AGTGGACTAGTGAAAATGCTTCTG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation