Incidental Mutation 'R1722:Lpl'
ID |
191553 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lpl
|
Ensembl Gene |
ENSMUSG00000015568 |
Gene Name |
lipoprotein lipase |
Synonyms |
O 1-4-5 |
MMRRC Submission |
039754-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1722 (G1)
|
Quality Score |
186 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
69333207-69359584 bp(+) (GRCm39) |
Type of Mutation |
frame shift |
DNA Base Change (assembly) |
TGG to TG
at 69349254 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132259
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015712]
[ENSMUST00000168401]
|
AlphaFold |
P11152 |
Predicted Effect |
probably null
Transcript: ENSMUST00000015712
|
SMART Domains |
Protein: ENSMUSP00000015712 Gene: ENSMUSG00000015568
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
|
SMART Domains |
Protein: ENSMUSP00000132259 Gene: ENSMUSG00000015568
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
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
Validation Efficiency |
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931422A03Rik |
A |
T |
2: 103,824,273 (GRCm39) |
|
probably null |
Het |
Adss1 |
A |
T |
12: 112,602,915 (GRCm39) |
I346F |
possibly damaging |
Het |
Ahnak |
T |
A |
19: 8,988,019 (GRCm39) |
L3101H |
probably damaging |
Het |
Aldh3b3 |
A |
G |
19: 4,014,871 (GRCm39) |
I123V |
possibly damaging |
Het |
Angptl1 |
C |
T |
1: 156,684,655 (GRCm39) |
P275S |
possibly damaging |
Het |
Apoa5 |
C |
T |
9: 46,181,847 (GRCm39) |
Q308* |
probably null |
Het |
Arhgef12 |
T |
C |
9: 42,932,013 (GRCm39) |
*106W |
probably null |
Het |
Atp2c1 |
A |
G |
9: 105,316,599 (GRCm39) |
Y485H |
probably benign |
Het |
Atp6v1b1 |
C |
T |
6: 83,720,074 (GRCm39) |
T3I |
possibly damaging |
Het |
Btbd7 |
A |
T |
12: 102,778,913 (GRCm39) |
I451N |
possibly damaging |
Het |
Clasp1 |
T |
G |
1: 118,518,194 (GRCm39) |
L1080R |
probably damaging |
Het |
Clec4f |
A |
G |
6: 83,623,915 (GRCm39) |
V408A |
probably benign |
Het |
Clint1 |
T |
A |
11: 45,797,233 (GRCm39) |
M438K |
possibly damaging |
Het |
Cuzd1 |
A |
T |
7: 130,913,373 (GRCm39) |
Y415N |
probably damaging |
Het |
Ddias |
A |
G |
7: 92,509,250 (GRCm39) |
F222L |
possibly damaging |
Het |
Efcab7 |
A |
T |
4: 99,757,815 (GRCm39) |
T321S |
probably benign |
Het |
Elp3 |
A |
T |
14: 65,788,846 (GRCm39) |
D393E |
probably benign |
Het |
Fbn2 |
T |
C |
18: 58,181,124 (GRCm39) |
|
probably null |
Het |
Fcgr3 |
T |
C |
1: 170,881,688 (GRCm39) |
R146G |
possibly damaging |
Het |
Fkrp |
G |
A |
7: 16,544,719 (GRCm39) |
A381V |
probably benign |
Het |
Gatad2b |
T |
G |
3: 90,262,986 (GRCm39) |
I476S |
probably damaging |
Het |
Gm1527 |
C |
T |
3: 28,975,783 (GRCm39) |
H557Y |
probably benign |
Het |
Gm2431 |
A |
T |
7: 141,811,599 (GRCm39) |
C102S |
unknown |
Het |
Hoxd13 |
A |
G |
2: 74,500,389 (GRCm39) |
N310S |
probably benign |
Het |
Il9 |
T |
A |
13: 56,627,208 (GRCm39) |
T135S |
probably benign |
Het |
Ints4 |
A |
C |
7: 97,162,786 (GRCm39) |
N476T |
probably benign |
Het |
Kcnq4 |
A |
C |
4: 120,559,624 (GRCm39) |
D525E |
probably benign |
Het |
Kncn |
A |
T |
4: 115,743,096 (GRCm39) |
Y57F |
probably damaging |
Het |
Lrrfip2 |
A |
G |
9: 111,028,829 (GRCm39) |
T351A |
probably damaging |
Het |
Madd |
T |
C |
2: 90,997,982 (GRCm39) |
E682G |
probably benign |
Het |
Marchf7 |
A |
C |
2: 60,064,526 (GRCm39) |
R267S |
probably damaging |
Het |
Mmp16 |
T |
A |
4: 18,051,767 (GRCm39) |
L252Q |
probably damaging |
Het |
Mri1 |
A |
T |
8: 84,980,554 (GRCm39) |
V296D |
possibly damaging |
Het |
Myo3a |
A |
G |
2: 22,404,638 (GRCm39) |
T665A |
probably benign |
Het |
N4bp2 |
T |
C |
5: 65,964,225 (GRCm39) |
V758A |
probably benign |
Het |
Nbea |
T |
C |
3: 55,573,116 (GRCm39) |
D2489G |
probably damaging |
Het |
Neb |
T |
C |
2: 52,146,757 (GRCm39) |
T2836A |
probably damaging |
Het |
Nedd4l |
T |
A |
18: 65,291,010 (GRCm39) |
V203E |
probably damaging |
Het |
Nkpd1 |
C |
A |
7: 19,257,846 (GRCm39) |
Q392K |
possibly damaging |
Het |
Nploc4 |
G |
T |
11: 120,273,395 (GRCm39) |
A576E |
probably benign |
Het |
Nxph1 |
T |
A |
6: 9,247,516 (GRCm39) |
N162K |
probably damaging |
Het |
Or3a1 |
T |
C |
11: 74,225,271 (GRCm39) |
Y262C |
probably damaging |
Het |
Or7c70 |
T |
A |
10: 78,682,805 (GRCm39) |
T315S |
probably benign |
Het |
Pabpc2 |
T |
G |
18: 39,908,169 (GRCm39) |
I478S |
probably benign |
Het |
Pde7b |
G |
T |
10: 20,311,990 (GRCm39) |
H190Q |
probably damaging |
Het |
Plekha2 |
A |
T |
8: 25,532,976 (GRCm39) |
S332T |
probably benign |
Het |
Rapgef6 |
TG |
TGG |
11: 54,437,223 (GRCm39) |
|
probably null |
Het |
Rasl11a |
A |
T |
5: 146,782,052 (GRCm39) |
H9L |
probably benign |
Het |
Rer1 |
A |
T |
4: 155,159,458 (GRCm39) |
F177I |
probably damaging |
Het |
Rinl |
T |
C |
7: 28,491,669 (GRCm39) |
L74P |
probably damaging |
Het |
Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Rttn |
T |
C |
18: 88,991,655 (GRCm39) |
V78A |
probably benign |
Het |
Skint5 |
A |
T |
4: 113,703,508 (GRCm39) |
|
probably null |
Het |
Tenm2 |
A |
C |
11: 35,898,930 (GRCm39) |
Y2743D |
probably damaging |
Het |
Tmem101 |
T |
C |
11: 102,045,519 (GRCm39) |
Y110C |
probably damaging |
Het |
Trim9 |
T |
C |
12: 70,295,148 (GRCm39) |
N658S |
probably benign |
Het |
Ucp1 |
A |
T |
8: 84,017,317 (GRCm39) |
T36S |
probably benign |
Het |
Vmn2r43 |
A |
G |
7: 8,258,067 (GRCm39) |
I382T |
probably damaging |
Het |
Zfp142 |
C |
T |
1: 74,608,935 (GRCm39) |
R1620Q |
probably damaging |
Het |
Zfp386 |
T |
C |
12: 116,023,526 (GRCm39) |
S380P |
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 |
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 |
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'- GGGAAACAACTTCTCCCTCAGGTG -3'
(R):5'- GGCCCATGATAACAGAGATGGCAC -3'
Sequencing Primer
(F):5'- TCCATAAATATAAAATGGCAGGGGC -3'
(R):5'- AGCGAGTCTTCAGGTACATC -3'
|
Posted On |
2014-05-14 |