Incidental Mutation 'R7730:Lpl'
| ID |
595765 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lpl
|
| Ensembl Gene |
ENSMUSG00000015568 |
| Gene Name |
lipoprotein lipase |
| Synonyms |
O 1-4-5 |
| MMRRC Submission |
045786-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7730 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
69333207-69359584 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 69340100 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 32
(R32*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000015712
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015712]
[ENSMUST00000168401]
|
| AlphaFold |
P11152 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000015712
AA Change: R32*
|
| SMART Domains |
Protein: ENSMUSP00000015712
Gene: ENSMUSG00000015568
AA Change: R32*
| 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
AA Change: R32*
|
| SMART Domains |
Protein: ENSMUSP00000132259
Gene: ENSMUSG00000015568
AA Change: R32*
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
A |
11: 48,838,703 (GRCm39) |
H628L |
probably benign |
Het |
| Adam6a |
T |
A |
12: 113,507,660 (GRCm39) |
V11E |
possibly damaging |
Het |
| Amotl1 |
T |
G |
9: 14,467,059 (GRCm39) |
K660T |
possibly damaging |
Het |
| Ap4m1 |
T |
C |
5: 138,171,077 (GRCm39) |
I59T |
probably damaging |
Het |
| Brd3 |
T |
C |
2: 27,346,967 (GRCm39) |
Y389C |
probably damaging |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Card11 |
C |
A |
5: 140,871,751 (GRCm39) |
R650L |
probably damaging |
Het |
| Cercam |
G |
A |
2: 29,762,574 (GRCm39) |
|
probably null |
Het |
| Cnst |
T |
C |
1: 179,452,650 (GRCm39) |
C673R |
probably damaging |
Het |
| Dld |
G |
T |
12: 31,390,864 (GRCm39) |
T194K |
probably benign |
Het |
| Dnah12 |
T |
A |
14: 26,507,890 (GRCm39) |
W1714R |
probably damaging |
Het |
| Dsg1a |
T |
G |
18: 20,464,768 (GRCm39) |
V421G |
possibly damaging |
Het |
| Fer1l4 |
G |
T |
2: 155,890,854 (GRCm39) |
P188Q |
probably benign |
Het |
| Gpr158 |
T |
C |
2: 21,831,158 (GRCm39) |
S753P |
probably damaging |
Het |
| Hdc |
A |
T |
2: 126,436,002 (GRCm39) |
M623K |
possibly damaging |
Het |
| Herc1 |
CAACCCTGGTAAC |
CAAC |
9: 66,400,472 (GRCm39) |
|
probably benign |
Het |
| Igf2r |
A |
T |
17: 12,954,878 (GRCm39) |
F203I |
probably damaging |
Het |
| Jag2 |
A |
T |
12: 112,885,661 (GRCm39) |
I145N |
probably damaging |
Het |
| Kcnt2 |
T |
A |
1: 140,446,686 (GRCm39) |
F694I |
probably benign |
Het |
| Mcpt4 |
T |
A |
14: 56,297,428 (GRCm39) |
I243L |
probably benign |
Het |
| Mtf1 |
C |
A |
4: 124,732,412 (GRCm39) |
A490E |
possibly damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,360,791 (GRCm39) |
M4497K |
probably damaging |
Het |
| Myog |
T |
C |
1: 134,218,914 (GRCm39) |
|
probably null |
Het |
| Nav2 |
T |
C |
7: 49,222,145 (GRCm39) |
S1757P |
probably damaging |
Het |
| Or7g18 |
T |
G |
9: 18,786,709 (GRCm39) |
F26V |
probably benign |
Het |
| Osmr |
T |
A |
15: 6,853,963 (GRCm39) |
I583F |
probably damaging |
Het |
| Phf19 |
T |
A |
2: 34,785,816 (GRCm39) |
E551V |
probably damaging |
Het |
| Plxnb2 |
A |
G |
15: 89,046,533 (GRCm39) |
M870T |
probably benign |
Het |
| Psat1 |
A |
G |
19: 15,895,720 (GRCm39) |
F83L |
probably damaging |
Het |
| Reep1 |
T |
A |
6: 71,757,725 (GRCm39) |
V108D |
possibly damaging |
Het |
| Rorc |
A |
G |
3: 94,300,421 (GRCm39) |
T455A |
probably benign |
Het |
| Serinc5 |
T |
G |
13: 92,821,698 (GRCm39) |
I169S |
probably damaging |
Het |
| Serpinb6c |
T |
C |
13: 34,083,292 (GRCm39) |
M41V |
probably damaging |
Het |
| Sgsm3 |
A |
T |
15: 80,892,927 (GRCm39) |
N335Y |
probably damaging |
Het |
| Slamf7 |
C |
T |
1: 171,468,589 (GRCm39) |
R101H |
possibly damaging |
Het |
| Slc17a4 |
A |
T |
13: 24,084,503 (GRCm39) |
L427* |
probably null |
Het |
| Slc35a5 |
T |
C |
16: 44,964,246 (GRCm39) |
Q329R |
probably damaging |
Het |
| Slc45a1 |
C |
T |
4: 150,715,397 (GRCm39) |
C656Y |
probably damaging |
Het |
| Srsf6 |
T |
C |
2: 162,773,643 (GRCm39) |
I18T |
probably damaging |
Het |
| Syn3 |
T |
G |
10: 86,284,773 (GRCm39) |
H109P |
probably benign |
Het |
| Synj2 |
T |
C |
17: 6,066,562 (GRCm39) |
V580A |
probably benign |
Het |
| Tbc1d9b |
T |
C |
11: 50,026,742 (GRCm39) |
V70A |
possibly damaging |
Het |
| Tc2n |
A |
G |
12: 101,617,406 (GRCm39) |
Y402H |
probably damaging |
Het |
| Tmbim4 |
T |
C |
10: 120,059,767 (GRCm39) |
C164R |
possibly damaging |
Het |
| Tnfrsf11b |
T |
A |
15: 54,117,470 (GRCm39) |
R262* |
probably null |
Het |
| Tnip1 |
T |
C |
11: 54,828,805 (GRCm39) |
K121E |
probably benign |
Het |
| Tut1 |
T |
C |
19: 8,941,740 (GRCm39) |
|
probably null |
Het |
| Uhrf2 |
T |
A |
19: 30,052,501 (GRCm39) |
C332S |
probably damaging |
Het |
| Vmn2r101 |
A |
G |
17: 19,831,950 (GRCm39) |
I649V |
possibly damaging |
Het |
| Vwa8 |
A |
G |
14: 79,232,589 (GRCm39) |
T644A |
probably benign |
Het |
| Zfhx2 |
T |
C |
14: 55,304,357 (GRCm39) |
H1209R |
possibly damaging |
Het |
| Zfp384 |
A |
G |
6: 125,008,635 (GRCm39) |
I306V |
probably benign |
Het |
| Zfp964 |
A |
G |
8: 70,116,360 (GRCm39) |
E320G |
possibly damaging |
Het |
| Zmym2 |
A |
T |
14: 57,193,638 (GRCm39) |
Y1151F |
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 |
|
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 |
|
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'- ACACATGCATTCGGTAGTGG -3'
(R):5'- GCTCCAGAATCACTCTTACCG -3'
Sequencing Primer
(F):5'- CCAATATGGATGCTACCAAGCTGG -3'
(R):5'- AGAATCACTCTTACCGTCCATCCATG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation