Incidental Mutation 'R5343:Lpl'
| ID |
422448 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lpl
|
| Ensembl Gene |
ENSMUSG00000015568 |
| Gene Name |
lipoprotein lipase |
| Synonyms |
O 1-4-5 |
| MMRRC Submission |
042922-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5343 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
69333207-69359584 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 69348389 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 206
(V206E)
|
| 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: V206E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000015712
Gene: ENSMUSG00000015568
AA Change: V206E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipase
|
19 |
338 |
7.8e-133 |
PFAM |
|
LH2
|
341 |
465 |
2.65e-27 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168401
AA Change: V206E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132259
Gene: ENSMUSG00000015568
AA Change: V206E
| 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: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.4%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310039H08Rik |
C |
A |
17: 47,083,962 (GRCm39) |
A75E |
probably damaging |
Het |
| Adck5 |
G |
A |
15: 76,479,780 (GRCm39) |
R560H |
probably damaging |
Het |
| Ahctf1 |
A |
T |
1: 179,598,199 (GRCm39) |
Y964* |
probably null |
Het |
| Alg8 |
T |
C |
7: 97,036,126 (GRCm39) |
I339T |
possibly damaging |
Het |
| Alox5 |
T |
C |
6: 116,390,468 (GRCm39) |
D503G |
possibly damaging |
Het |
| Camk4 |
A |
G |
18: 33,211,122 (GRCm39) |
T76A |
probably damaging |
Het |
| Cdh3 |
T |
C |
8: 107,279,568 (GRCm39) |
V728A |
probably benign |
Het |
| Chd4 |
T |
A |
6: 125,097,326 (GRCm39) |
N1326K |
probably damaging |
Het |
| Cnn1 |
A |
T |
9: 22,016,706 (GRCm39) |
Y48F |
probably benign |
Het |
| Dnah6 |
T |
A |
6: 73,189,599 (GRCm39) |
E16D |
probably benign |
Het |
| Ezh2 |
A |
G |
6: 47,553,549 (GRCm39) |
L56S |
probably damaging |
Het |
| F13b |
T |
C |
1: 139,438,282 (GRCm39) |
V299A |
possibly damaging |
Het |
| Hydin |
T |
C |
8: 111,212,051 (GRCm39) |
S1279P |
probably benign |
Het |
| Ift172 |
T |
C |
5: 31,421,156 (GRCm39) |
M981V |
probably benign |
Het |
| Inava |
G |
T |
1: 136,153,180 (GRCm39) |
H237Q |
probably benign |
Het |
| Mre11a |
A |
G |
9: 14,723,130 (GRCm39) |
D368G |
probably damaging |
Het |
| Mreg |
G |
A |
1: 72,200,117 (GRCm39) |
P191L |
probably damaging |
Het |
| Mtif2 |
G |
T |
11: 29,486,964 (GRCm39) |
A134S |
probably damaging |
Het |
| Mxd4 |
T |
C |
5: 34,335,074 (GRCm39) |
S114G |
probably benign |
Het |
| Myo1b |
T |
C |
1: 51,817,696 (GRCm39) |
Q522R |
probably benign |
Het |
| Ncapd3 |
GGCTGCTGCTGCTGCTGCTGCTG |
GGCTGCTGCTGCTGCTGCTG |
9: 26,999,349 (GRCm39) |
|
probably benign |
Het |
| Ninl |
T |
C |
2: 150,813,110 (GRCm39) |
E182G |
probably benign |
Het |
| Notch3 |
T |
C |
17: 32,362,257 (GRCm39) |
N1456S |
probably benign |
Het |
| Npr1 |
G |
T |
3: 90,365,515 (GRCm39) |
N648K |
possibly damaging |
Het |
| Oas3 |
A |
G |
5: 120,894,303 (GRCm39) |
S1016P |
possibly damaging |
Het |
| Or10a3 |
C |
T |
7: 108,480,205 (GRCm39) |
V203M |
possibly damaging |
Het |
| Or9i14 |
T |
C |
19: 13,792,324 (GRCm39) |
N210S |
probably damaging |
Het |
| Palld |
A |
G |
8: 62,002,849 (GRCm39) |
|
probably benign |
Het |
| Patj |
T |
G |
4: 98,564,430 (GRCm39) |
I1021S |
probably damaging |
Het |
| Pfpl |
T |
A |
19: 12,406,052 (GRCm39) |
L101Q |
probably damaging |
Het |
| Pilrb2 |
T |
A |
5: 137,869,228 (GRCm39) |
E124V |
possibly damaging |
Het |
| Pomk |
A |
G |
8: 26,473,044 (GRCm39) |
F303S |
probably benign |
Het |
| Rap1gap2 |
A |
T |
11: 74,332,611 (GRCm39) |
S65T |
probably damaging |
Het |
| Sema3a |
G |
A |
5: 13,523,373 (GRCm39) |
C114Y |
probably damaging |
Het |
| Sfi1 |
A |
ATCTTCCCAAAGCCAGTGC |
11: 3,103,384 (GRCm39) |
|
probably benign |
Het |
| Spry4 |
A |
T |
18: 38,723,028 (GRCm39) |
V245E |
probably damaging |
Het |
| Srrt |
T |
C |
5: 137,295,427 (GRCm39) |
Y271C |
probably damaging |
Het |
| Tas2r136 |
A |
G |
6: 132,755,043 (GRCm39) |
V28A |
probably benign |
Het |
| Tenm2 |
A |
G |
11: 35,960,330 (GRCm39) |
V998A |
probably benign |
Het |
| Trim37 |
A |
G |
11: 87,028,429 (GRCm39) |
E46G |
probably damaging |
Het |
| Ubiad1 |
A |
G |
4: 148,520,892 (GRCm39) |
V244A |
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 |
|
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'- ACTCTTAGTCACTGAAAGATCCAACTC -3'
(R):5'- TGTAGCTTACTCACCTCCGAG -3'
Sequencing Primer
(F):5'- CCAACTCTGAGACTATAAGCTGGTAG -3'
(R):5'- GAGTCCTCTCTCTGCAATCACACG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation