Incidental Mutation 'IGL01161:Lpl'
| ID |
53715 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lpl
|
| Ensembl Gene |
ENSMUSG00000015568 |
| Gene Name |
lipoprotein lipase |
| Synonyms |
O 1-4-5 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01161
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
69333207-69359584 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 69345277 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 94
(K94*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132259
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015712]
[ENSMUST00000168401]
|
| AlphaFold |
P11152 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000015712
AA Change: K94*
|
| SMART Domains |
Protein: ENSMUSP00000015712
Gene: ENSMUSG00000015568
AA Change: K94*
| 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 null
Transcript: ENSMUST00000168401
AA Change: K94*
|
| SMART Domains |
Protein: ENSMUSP00000132259
Gene: ENSMUSG00000015568
AA Change: K94*
| 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 |
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb2 |
T |
A |
2: 103,535,463 (GRCm39) |
D543E |
probably benign |
Het |
| Acad9 |
A |
C |
3: 36,144,274 (GRCm39) |
N583T |
possibly damaging |
Het |
| Arhgap5 |
G |
A |
12: 52,563,643 (GRCm39) |
V205M |
probably damaging |
Het |
| Arid1b |
G |
A |
17: 5,392,674 (GRCm39) |
R2068Q |
probably damaging |
Het |
| Bex3 |
T |
C |
X: 135,172,218 (GRCm39) |
F60S |
probably damaging |
Het |
| Casd1 |
C |
T |
6: 4,619,833 (GRCm39) |
P193S |
possibly damaging |
Het |
| Ceacam11 |
A |
T |
7: 17,712,435 (GRCm39) |
I295F |
possibly damaging |
Het |
| Ceacam3 |
T |
A |
7: 16,885,782 (GRCm39) |
N128K |
probably benign |
Het |
| Cyp1a2 |
C |
T |
9: 57,587,176 (GRCm39) |
E372K |
probably damaging |
Het |
| Ddb1 |
T |
G |
19: 10,583,071 (GRCm39) |
M1R |
probably null |
Het |
| Ecel1 |
T |
C |
1: 87,080,915 (GRCm39) |
D329G |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,175,017 (GRCm39) |
N1899D |
probably benign |
Het |
| Gli3 |
A |
G |
13: 15,722,983 (GRCm39) |
|
probably null |
Het |
| Gm20507 |
A |
T |
17: 33,863,727 (GRCm39) |
|
probably benign |
Het |
| Gml |
T |
G |
15: 74,685,688 (GRCm39) |
Y99S |
probably damaging |
Het |
| Gpr119 |
G |
T |
X: 47,762,125 (GRCm39) |
|
probably benign |
Het |
| Hcn1 |
T |
C |
13: 117,793,458 (GRCm39) |
Y237H |
unknown |
Het |
| Hook2 |
G |
A |
8: 85,721,560 (GRCm39) |
V273I |
probably benign |
Het |
| Il12rb2 |
T |
C |
6: 67,338,849 (GRCm39) |
|
probably benign |
Het |
| Kdm2a |
A |
G |
19: 4,369,279 (GRCm39) |
F1112S |
probably benign |
Het |
| Lrrc8a |
T |
A |
2: 30,145,822 (GRCm39) |
L212Q |
probably damaging |
Het |
| Me2 |
A |
T |
18: 73,903,887 (GRCm39) |
|
probably benign |
Het |
| Mmp11 |
A |
T |
10: 75,762,655 (GRCm39) |
M266K |
probably benign |
Het |
| Mprip |
T |
A |
11: 59,622,399 (GRCm39) |
V162E |
possibly damaging |
Het |
| Nsf |
C |
T |
11: 103,752,711 (GRCm39) |
|
probably benign |
Het |
| Or56b2 |
T |
C |
7: 104,337,588 (GRCm39) |
V122A |
probably benign |
Het |
| Pcif1 |
T |
A |
2: 164,727,708 (GRCm39) |
L167H |
probably damaging |
Het |
| Reps1 |
T |
C |
10: 17,969,643 (GRCm39) |
S249P |
probably damaging |
Het |
| Sdf4 |
T |
A |
4: 156,093,763 (GRCm39) |
M299K |
probably benign |
Het |
| Slc30a7 |
A |
G |
3: 115,747,759 (GRCm39) |
V344A |
possibly damaging |
Het |
| Svep1 |
G |
A |
4: 58,146,569 (GRCm39) |
P358S |
probably damaging |
Het |
| Syt9 |
G |
T |
7: 107,024,356 (GRCm39) |
R83L |
probably damaging |
Het |
| Tbc1d15 |
T |
C |
10: 115,038,435 (GRCm39) |
I593V |
probably benign |
Het |
| Trio |
T |
A |
15: 27,749,867 (GRCm39) |
N1134I |
probably damaging |
Het |
| Trpv3 |
A |
G |
11: 73,187,544 (GRCm39) |
|
probably benign |
Het |
| Ugp2 |
T |
A |
11: 21,273,273 (GRCm39) |
I449L |
possibly damaging |
Het |
| Usp24 |
C |
A |
4: 106,294,041 (GRCm39) |
H2595N |
probably benign |
Het |
| Vat1l |
A |
G |
8: 115,096,629 (GRCm39) |
N370S |
possibly damaging |
Het |
| Wwc1 |
C |
A |
11: 35,758,103 (GRCm39) |
D748Y |
probably damaging |
Het |
| Zfyve9 |
G |
A |
4: 108,538,261 (GRCm39) |
H1002Y |
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 |
|
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 |
|
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 |
|
| Posted On |
2013-06-28 |
Incidental Mutation