Incidental Mutation 'R9323:Lpl'
ID |
706324 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lpl
|
Ensembl Gene |
ENSMUSG00000015568 |
Gene Name |
lipoprotein lipase |
Synonyms |
O 1-4-5 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9323 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
69333207-69359584 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 69340196 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 64
(V64M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000015712
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015712]
[ENSMUST00000168401]
|
AlphaFold |
P11152 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000015712
AA Change: V64M
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000015712 Gene: ENSMUSG00000015568 AA Change: V64M
Domain | Start | End | E-Value | Type |
Pfam:Lipase
|
19 |
338 |
7.8e-133 |
PFAM |
LH2
|
341 |
465 |
2.65e-27 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168401
AA Change: V64M
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000132259 Gene: ENSMUSG00000015568 AA Change: V64M
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abat |
G |
A |
16: 8,420,235 (GRCm39) |
W178* |
probably null |
Het |
Alx1 |
G |
A |
10: 102,858,124 (GRCm39) |
R192* |
probably null |
Het |
Apom |
A |
G |
17: 35,350,633 (GRCm39) |
C23R |
probably damaging |
Het |
Asap2 |
A |
G |
12: 21,162,148 (GRCm39) |
N35S |
probably benign |
Het |
Atf6 |
A |
T |
1: 170,682,682 (GRCm39) |
Y43* |
probably null |
Het |
Atosa |
C |
T |
9: 74,883,415 (GRCm39) |
|
probably benign |
Het |
Bag4 |
T |
C |
8: 26,261,361 (GRCm39) |
S127G |
possibly damaging |
Het |
Bag4 |
G |
T |
8: 26,275,180 (GRCm39) |
S7* |
probably null |
Het |
Ccdc88b |
A |
G |
19: 6,826,475 (GRCm39) |
L1080P |
probably damaging |
Het |
Cdcp3 |
T |
A |
7: 130,828,401 (GRCm39) |
N285K |
probably damaging |
Het |
Cdkl2 |
A |
T |
5: 92,168,107 (GRCm39) |
D362E |
probably benign |
Het |
Cep170 |
A |
G |
1: 176,586,068 (GRCm39) |
S575P |
probably benign |
Het |
Col4a2 |
C |
T |
8: 11,493,413 (GRCm39) |
P1374L |
possibly damaging |
Het |
Cpt2 |
T |
C |
4: 107,761,556 (GRCm39) |
H617R |
probably benign |
Het |
Cyp2d22 |
A |
G |
15: 82,258,207 (GRCm39) |
S138P |
probably damaging |
Het |
Cyp2j11 |
T |
C |
4: 96,195,619 (GRCm39) |
D359G |
probably benign |
Het |
Ddb2 |
T |
C |
2: 91,042,337 (GRCm39) |
S419G |
possibly damaging |
Het |
Dmrtc2 |
A |
T |
7: 24,572,341 (GRCm39) |
I121F |
probably benign |
Het |
Dus1l |
C |
T |
11: 120,684,724 (GRCm39) |
R149H |
probably damaging |
Het |
Fam90a1a |
T |
A |
8: 22,453,640 (GRCm39) |
Y332N |
probably benign |
Het |
Fbxo47 |
A |
T |
11: 97,770,254 (GRCm39) |
V46D |
probably benign |
Het |
Grep1 |
A |
G |
17: 23,937,387 (GRCm39) |
S54P |
unknown |
Het |
Grpel1 |
T |
A |
5: 36,628,007 (GRCm39) |
V96E |
possibly damaging |
Het |
Ifi207 |
A |
T |
1: 173,555,143 (GRCm39) |
N853K |
probably damaging |
Het |
Igkv4-80 |
C |
T |
6: 68,993,751 (GRCm39) |
A47T |
probably damaging |
Het |
Il1a |
T |
A |
2: 129,149,826 (GRCm39) |
I25F |
probably benign |
Het |
Ireb2 |
T |
A |
9: 54,811,523 (GRCm39) |
|
probably null |
Het |
Itpr1 |
A |
G |
6: 108,328,979 (GRCm39) |
Y131C |
probably damaging |
Het |
Kmt2a |
T |
C |
9: 44,731,261 (GRCm39) |
|
probably benign |
Het |
Lancl1 |
T |
A |
1: 67,077,794 (GRCm39) |
|
probably benign |
Het |
Marchf10 |
T |
C |
11: 105,280,581 (GRCm39) |
H568R |
probably damaging |
Het |
Mib1 |
G |
A |
18: 10,775,685 (GRCm39) |
V546M |
probably damaging |
Het |
Mss51 |
A |
T |
14: 20,534,939 (GRCm39) |
I277N |
probably benign |
Het |
Mybpc1 |
A |
G |
10: 88,360,829 (GRCm39) |
|
probably null |
Het |
Myct1 |
A |
C |
10: 5,554,195 (GRCm39) |
I21L |
probably benign |
Het |
Myo5c |
C |
A |
9: 75,153,531 (GRCm39) |
A139E |
probably damaging |
Het |
Nlrp4e |
C |
G |
7: 23,020,755 (GRCm39) |
A414G |
probably benign |
Het |
Npy2r |
A |
T |
3: 82,447,728 (GRCm39) |
I349N |
possibly damaging |
Het |
Nrap |
T |
C |
19: 56,378,255 (GRCm39) |
I19V |
probably benign |
Het |
Or10g7 |
T |
C |
9: 39,905,360 (GRCm39) |
S85P |
possibly damaging |
Het |
Or14j2 |
A |
C |
17: 37,886,135 (GRCm39) |
Y60D |
probably damaging |
Het |
Or52n20 |
T |
C |
7: 104,320,220 (GRCm39) |
F104L |
possibly damaging |
Het |
Or5p6 |
C |
T |
7: 107,631,230 (GRCm39) |
V107I |
probably benign |
Het |
Or6c3b |
A |
T |
10: 129,527,829 (GRCm39) |
V27D |
probably benign |
Het |
Or8d23 |
T |
C |
9: 38,841,818 (GRCm39) |
V117A |
probably benign |
Het |
Pde6b |
A |
T |
5: 108,551,298 (GRCm39) |
N194I |
probably damaging |
Het |
Polg |
TCTGGATGA |
TCTGGATGACTGGATGA |
7: 79,114,779 (GRCm39) |
|
probably null |
Het |
Polg |
GA |
GACTGGAGCA |
7: 79,114,786 (GRCm39) |
|
probably null |
Het |
Ptpn9 |
T |
C |
9: 56,934,701 (GRCm39) |
M155T |
possibly damaging |
Het |
Ret |
A |
G |
6: 118,158,975 (GRCm39) |
Y146H |
probably benign |
Het |
Sdf2l1 |
T |
C |
16: 16,949,498 (GRCm39) |
H116R |
probably damaging |
Het |
Shld2 |
A |
G |
14: 33,981,596 (GRCm39) |
V514A |
probably damaging |
Het |
Slc37a1 |
T |
C |
17: 31,552,643 (GRCm39) |
I316T |
probably damaging |
Het |
Slc4a11 |
A |
C |
2: 130,528,830 (GRCm39) |
L473R |
possibly damaging |
Het |
Smg7 |
A |
G |
1: 152,731,753 (GRCm39) |
M344T |
probably benign |
Het |
Smg9 |
T |
C |
7: 24,114,465 (GRCm39) |
L268P |
probably damaging |
Het |
Tiparp |
C |
T |
3: 65,439,272 (GRCm39) |
T196I |
probably benign |
Het |
Trappc12 |
A |
G |
12: 28,742,491 (GRCm39) |
|
probably null |
Het |
Trappc9 |
A |
T |
15: 72,565,431 (GRCm39) |
N953K |
probably benign |
Het |
Trpa1 |
A |
G |
1: 14,968,564 (GRCm39) |
V428A |
probably benign |
Het |
Utp20 |
T |
C |
10: 88,583,170 (GRCm39) |
R2728G |
probably damaging |
Het |
Zfp612 |
A |
G |
8: 110,815,372 (GRCm39) |
E193G |
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 |
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 |
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'- TGGCTGCATGTGAATCTGAAAAC -3'
(R):5'- CTGTGTTGAAACAAAGGTGGGC -3'
Sequencing Primer
(F):5'- GAATCTGAAAACCTGTCGGTCCTG -3'
(R):5'- CGATTGGGGCTATCATGAACC -3'
|
Posted On |
2022-04-18 |