Incidental Mutation 'R1252:Lpl'
ID |
151802 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lpl
|
Ensembl Gene |
ENSMUSG00000015568 |
Gene Name |
lipoprotein lipase |
Synonyms |
O 1-4-5 |
MMRRC Submission |
039319-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1252 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
69333207-69359584 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 69345311 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 105
(D105G)
|
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: D105G
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000015712 Gene: ENSMUSG00000015568 AA Change: D105G
Domain | Start | End | E-Value | Type |
Pfam:Lipase
|
19 |
338 |
7.8e-133 |
PFAM |
LH2
|
341 |
465 |
2.65e-27 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000101463
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168401
AA Change: D105G
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000132259 Gene: ENSMUSG00000015568 AA Change: D105G
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: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.2%
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
Acsm2 |
C |
T |
7: 119,172,468 (GRCm39) |
H104Y |
probably benign |
Het |
Adgrb3 |
G |
A |
1: 25,167,909 (GRCm39) |
T1009M |
probably damaging |
Het |
Arfgef2 |
A |
G |
2: 166,701,877 (GRCm39) |
K755E |
probably damaging |
Het |
Atm |
A |
T |
9: 53,367,140 (GRCm39) |
D2491E |
probably damaging |
Het |
Bptf |
A |
G |
11: 106,964,077 (GRCm39) |
S1706P |
probably benign |
Het |
Capn13 |
C |
T |
17: 73,674,222 (GRCm39) |
G77D |
possibly damaging |
Het |
Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
Cdhr18 |
T |
C |
14: 13,862,444 (GRCm38) |
D370G |
probably benign |
Het |
Cep135 |
A |
G |
5: 76,741,962 (GRCm39) |
K133E |
possibly damaging |
Het |
Cyp2c67 |
A |
G |
19: 39,614,585 (GRCm39) |
M314T |
possibly damaging |
Het |
Dennd5b |
T |
C |
6: 148,945,985 (GRCm39) |
D542G |
probably damaging |
Het |
Dpys |
A |
T |
15: 39,687,636 (GRCm39) |
N387K |
probably damaging |
Het |
Erc1 |
A |
T |
6: 119,720,353 (GRCm39) |
D749E |
possibly damaging |
Het |
Gucy2e |
A |
T |
11: 69,126,485 (GRCm39) |
F298L |
probably benign |
Het |
Igsf10 |
A |
G |
3: 59,239,269 (GRCm39) |
V304A |
probably benign |
Het |
Kmt2b |
A |
T |
7: 30,279,912 (GRCm39) |
C1363S |
probably damaging |
Het |
Krt87 |
A |
G |
15: 101,385,711 (GRCm39) |
Y295H |
probably damaging |
Het |
Lmo7 |
T |
C |
14: 102,138,019 (GRCm39) |
V396A |
probably damaging |
Het |
Lrrc45 |
C |
A |
11: 120,606,297 (GRCm39) |
T135N |
probably benign |
Het |
Ltn1 |
C |
T |
16: 87,212,918 (GRCm39) |
A548T |
probably benign |
Het |
Nectin2 |
T |
G |
7: 19,451,523 (GRCm39) |
I504L |
probably benign |
Het |
Nmbr |
T |
C |
10: 14,636,187 (GRCm39) |
I52T |
probably benign |
Het |
Nop14 |
A |
T |
5: 34,807,899 (GRCm39) |
N354K |
probably benign |
Het |
Olfm1 |
A |
G |
2: 28,119,447 (GRCm39) |
I361V |
probably benign |
Het |
Or8g18 |
G |
C |
9: 39,149,547 (GRCm39) |
P58A |
probably benign |
Het |
Ovol1 |
T |
C |
19: 5,603,629 (GRCm39) |
T91A |
probably benign |
Het |
Pigz |
T |
A |
16: 31,760,808 (GRCm39) |
V3E |
possibly damaging |
Het |
Pip4k2b |
T |
C |
11: 97,635,420 (GRCm39) |
N4S |
probably benign |
Het |
Slc23a2 |
A |
T |
2: 131,904,117 (GRCm39) |
|
probably null |
Het |
Slc66a2 |
A |
G |
18: 80,334,813 (GRCm39) |
T211A |
possibly damaging |
Het |
Speg |
A |
T |
1: 75,403,739 (GRCm39) |
D2640V |
probably damaging |
Het |
Trip12 |
G |
A |
1: 84,754,071 (GRCm39) |
Q111* |
probably null |
Het |
Trub2 |
A |
G |
2: 29,672,170 (GRCm39) |
F141S |
probably damaging |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Wdfy4 |
A |
T |
14: 32,693,729 (GRCm39) |
|
probably null |
Het |
Zfp935 |
A |
G |
13: 62,602,355 (GRCm39) |
F282L |
probably damaging |
Het |
Zfp946 |
G |
T |
17: 22,672,560 (GRCm39) |
|
probably null |
Het |
Zkscan4 |
A |
G |
13: 21,668,044 (GRCm39) |
E165G |
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 |
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 |
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'- ACATTTGCCCTGGAAGTGGGAAAG -3'
(R):5'- CAGCCATGTGTCTAGCTCTAACCAAG -3'
Sequencing Primer
(F):5'- AGTTCTCAGCCTGAGCCAATG -3'
(R):5'- AGCTCTAACCAAGAGTTTTATCCC -3'
|
Posted On |
2014-01-29 |