Incidental Mutation 'R6137:Lpl'
ID |
488405 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lpl
|
Ensembl Gene |
ENSMUSG00000015568 |
Gene Name |
lipoprotein lipase |
Synonyms |
O 1-4-5 |
MMRRC Submission |
044284-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6137 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
69333207-69359584 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 69345399 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 134
(D134E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132259
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015712]
[ENSMUST00000168401]
|
AlphaFold |
P11152 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000015712
AA Change: D134E
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000015712 Gene: ENSMUSG00000015568 AA Change: D134E
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 damaging
Transcript: ENSMUST00000168401
AA Change: D134E
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000132259 Gene: ENSMUSG00000015568 AA Change: D134E
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 |
0.1929 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.3%
|
Validation Efficiency |
98% (58/59) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310057M21Rik |
G |
T |
7: 130,959,342 (GRCm39) |
H165Q |
probably damaging |
Het |
Akap13 |
T |
A |
7: 75,327,164 (GRCm39) |
F721Y |
probably damaging |
Het |
Akap6 |
A |
T |
12: 53,187,137 (GRCm39) |
D1517V |
probably damaging |
Het |
Amigo3 |
T |
A |
9: 107,930,927 (GRCm39) |
S117T |
probably damaging |
Het |
Atf7ip2 |
T |
A |
16: 10,019,275 (GRCm39) |
N34K |
probably damaging |
Het |
Cacnb1 |
A |
C |
11: 97,896,608 (GRCm39) |
V351G |
probably damaging |
Het |
Casp9 |
T |
A |
4: 141,532,660 (GRCm39) |
|
probably null |
Het |
Ccdc51 |
C |
T |
9: 108,918,483 (GRCm39) |
T24I |
probably benign |
Het |
Cdh23 |
T |
A |
10: 60,270,291 (GRCm39) |
Y618F |
probably damaging |
Het |
Chd1 |
T |
A |
17: 15,978,950 (GRCm39) |
W1271R |
probably damaging |
Het |
Dars1 |
T |
C |
1: 128,296,176 (GRCm39) |
T386A |
probably benign |
Het |
Dchs1 |
T |
A |
7: 105,414,313 (GRCm39) |
D834V |
probably damaging |
Het |
Dgkd |
T |
A |
1: 87,864,103 (GRCm39) |
V933E |
possibly damaging |
Het |
Dnah17 |
A |
G |
11: 117,916,480 (GRCm39) |
F4203S |
probably damaging |
Het |
Fancm |
T |
C |
12: 65,177,156 (GRCm39) |
L2000P |
probably damaging |
Het |
Fbxo11 |
A |
T |
17: 88,316,097 (GRCm39) |
H444Q |
probably benign |
Het |
Fbxw14 |
T |
A |
9: 109,105,290 (GRCm39) |
T292S |
probably damaging |
Het |
Fer1l6 |
T |
C |
15: 58,431,055 (GRCm39) |
S237P |
probably damaging |
Het |
Frem3 |
T |
C |
8: 81,341,676 (GRCm39) |
I1323T |
probably benign |
Het |
Grin2a |
A |
G |
16: 9,471,313 (GRCm39) |
F652L |
probably benign |
Het |
Grin2b |
T |
A |
6: 135,900,456 (GRCm39) |
M142L |
possibly damaging |
Het |
Helz |
A |
G |
11: 107,509,886 (GRCm39) |
Q503R |
possibly damaging |
Het |
Ighv5-17 |
A |
G |
12: 113,822,915 (GRCm39) |
Y69H |
probably benign |
Het |
Il17ra |
A |
G |
6: 120,452,543 (GRCm39) |
N242S |
probably benign |
Het |
Immp1l |
G |
C |
2: 105,794,553 (GRCm39) |
G117A |
probably damaging |
Het |
Itm2c |
T |
C |
1: 85,822,413 (GRCm39) |
V10A |
probably benign |
Het |
Kif1b |
T |
C |
4: 149,322,883 (GRCm39) |
K679E |
possibly damaging |
Het |
Kng1 |
T |
C |
16: 22,893,395 (GRCm39) |
V256A |
possibly damaging |
Het |
Lamc2 |
T |
G |
1: 153,041,899 (GRCm39) |
R78S |
possibly damaging |
Het |
Loxl4 |
A |
G |
19: 42,587,232 (GRCm39) |
F621S |
probably damaging |
Het |
Lypd3 |
T |
C |
7: 24,339,919 (GRCm39) |
Y329H |
probably benign |
Het |
Mettl13 |
T |
C |
1: 162,363,455 (GRCm39) |
D225G |
probably benign |
Het |
Myo7b |
A |
G |
18: 32,133,027 (GRCm39) |
F441L |
probably damaging |
Het |
Nnt |
T |
A |
13: 119,472,864 (GRCm39) |
M699L |
possibly damaging |
Het |
Nr1h3 |
A |
T |
2: 91,022,196 (GRCm39) |
M144K |
probably damaging |
Het |
Or2t46 |
A |
T |
11: 58,471,894 (GRCm39) |
M75L |
probably benign |
Het |
Or5al6 |
A |
G |
2: 85,976,313 (GRCm39) |
V255A |
probably benign |
Het |
Or6z6 |
T |
C |
7: 6,491,844 (GRCm39) |
T3A |
probably benign |
Het |
Pappa2 |
A |
T |
1: 158,699,113 (GRCm39) |
Y667N |
probably damaging |
Het |
Prps1l3 |
A |
G |
12: 57,285,674 (GRCm39) |
I155V |
probably benign |
Het |
Ptgs2 |
T |
A |
1: 149,976,744 (GRCm39) |
N24K |
probably benign |
Het |
Ralgds |
A |
T |
2: 28,437,600 (GRCm39) |
M514L |
probably damaging |
Het |
Rbm47 |
G |
C |
5: 66,183,626 (GRCm39) |
R326G |
probably damaging |
Het |
Sacm1l |
T |
A |
9: 123,398,070 (GRCm39) |
V254D |
probably damaging |
Het |
Selenot |
A |
T |
3: 58,492,705 (GRCm39) |
Q64L |
probably damaging |
Het |
Sgsm2 |
G |
A |
11: 74,741,677 (GRCm39) |
R1037W |
probably damaging |
Het |
Slc22a12 |
A |
G |
19: 6,592,754 (GRCm39) |
V10A |
probably benign |
Het |
Spem2 |
G |
T |
11: 69,707,522 (GRCm39) |
S481* |
probably null |
Het |
Styk1 |
C |
T |
6: 131,287,979 (GRCm39) |
G128D |
probably damaging |
Het |
Tex54 |
A |
T |
19: 8,718,148 (GRCm39) |
D6V |
probably damaging |
Het |
Tmc6 |
A |
T |
11: 117,667,154 (GRCm39) |
L148Q |
probably damaging |
Het |
Tmem138 |
A |
C |
19: 10,552,199 (GRCm39) |
|
probably null |
Het |
Tnpo3 |
A |
G |
6: 29,555,267 (GRCm39) |
V772A |
probably benign |
Het |
Topaz1 |
T |
C |
9: 122,626,821 (GRCm39) |
F1483S |
possibly damaging |
Het |
Tuba4a |
C |
A |
1: 75,192,699 (GRCm39) |
C305F |
probably damaging |
Het |
Ubap1 |
T |
G |
4: 41,379,262 (GRCm39) |
F159V |
possibly damaging |
Het |
Vmn2r9 |
A |
G |
5: 108,996,882 (GRCm39) |
I129T |
probably benign |
Het |
Wwc2 |
A |
T |
8: 48,309,298 (GRCm39) |
M828K |
unknown |
Het |
Zfp236 |
A |
T |
18: 82,689,919 (GRCm39) |
S187T |
possibly 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 |
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'- GCACTGTCCTTTTCAGGTAAC -3'
(R):5'- TGGATCTGAACTACTCTAAGAGCC -3'
Sequencing Primer
(F):5'- TCCTTTTCAGGTAACGGGAATG -3'
(R):5'- GTAAGCCAGCCCCAGTTAAATGTTG -3'
|
Posted On |
2017-10-10 |