Incidental Mutation 'R8274:Lpl'
ID |
637896 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lpl
|
Ensembl Gene |
ENSMUSG00000015568 |
Gene Name |
lipoprotein lipase |
Synonyms |
O 1-4-5 |
MMRRC Submission |
067697-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8274 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
69333207-69359584 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 69345250 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 85
(T85A)
|
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: T85A
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000015712 Gene: ENSMUSG00000015568 AA Change: T85A
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: T85A
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000132259 Gene: ENSMUSG00000015568 AA Change: T85A
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: 99.6%
- 20x: 98.5%
|
Validation Efficiency |
100% (46/46) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921536K21Rik |
T |
C |
11: 3,844,964 (GRCm39) |
T42A |
possibly damaging |
Het |
Adamts6 |
T |
C |
13: 104,450,181 (GRCm39) |
V294A |
probably benign |
Het |
Ahr |
A |
C |
12: 35,560,068 (GRCm39) |
V195G |
probably benign |
Het |
Ankrd17 |
A |
T |
5: 90,430,718 (GRCm39) |
I1022N |
probably benign |
Het |
Arsk |
A |
T |
13: 76,220,303 (GRCm39) |
C264S |
probably damaging |
Het |
Astn2 |
A |
G |
4: 65,570,098 (GRCm39) |
|
probably null |
Het |
Atf7ip |
C |
A |
6: 136,537,988 (GRCm39) |
T407K |
probably benign |
Het |
Axl |
A |
G |
7: 25,463,438 (GRCm39) |
I613T |
probably damaging |
Het |
Baz2a |
T |
C |
10: 127,957,716 (GRCm39) |
M1021T |
probably benign |
Het |
Cacna2d2 |
T |
C |
9: 107,401,861 (GRCm39) |
V765A |
possibly damaging |
Het |
Chd7 |
T |
C |
4: 8,839,432 (GRCm39) |
Y1323H |
probably damaging |
Het |
Col7a1 |
G |
T |
9: 108,799,029 (GRCm39) |
G1794V |
probably damaging |
Het |
Csmd1 |
T |
C |
8: 15,960,453 (GRCm39) |
M3321V |
possibly damaging |
Het |
Dcp1b |
T |
C |
6: 119,160,612 (GRCm39) |
S65P |
probably damaging |
Het |
Depdc7 |
A |
G |
2: 104,558,551 (GRCm39) |
S157P |
probably benign |
Het |
Dnah1 |
T |
A |
14: 31,017,531 (GRCm39) |
H1500L |
probably benign |
Het |
Erbb2 |
C |
T |
11: 98,324,722 (GRCm39) |
A772V |
probably damaging |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Fat3 |
T |
A |
9: 16,288,786 (GRCm39) |
K246* |
probably null |
Het |
Fbxl9 |
T |
A |
8: 106,042,166 (GRCm39) |
I221F |
probably benign |
Het |
Gbp4 |
T |
C |
5: 105,267,338 (GRCm39) |
N527S |
probably benign |
Het |
Gpr157 |
C |
T |
4: 150,172,500 (GRCm39) |
T97M |
probably damaging |
Het |
Gpt2 |
T |
C |
8: 86,242,853 (GRCm39) |
L295P |
probably benign |
Het |
Grm8 |
T |
A |
6: 27,761,335 (GRCm39) |
K296N |
probably benign |
Het |
Gss |
T |
A |
2: 155,429,424 (GRCm39) |
I23L |
probably benign |
Het |
Hk3 |
A |
G |
13: 55,159,230 (GRCm39) |
V442A |
possibly damaging |
Het |
Hoxa3 |
C |
A |
6: 52,147,524 (GRCm39) |
R243L |
unknown |
Het |
Junb |
T |
A |
8: 85,705,058 (GRCm39) |
M1L |
possibly damaging |
Het |
Kcnh6 |
T |
C |
11: 105,910,987 (GRCm39) |
I514T |
probably damaging |
Het |
Kif11 |
C |
A |
19: 37,391,994 (GRCm39) |
T463N |
probably damaging |
Het |
Lmf2 |
C |
T |
15: 89,236,866 (GRCm39) |
G459S |
probably damaging |
Het |
Myo9b |
G |
A |
8: 71,812,480 (GRCm39) |
A2084T |
probably benign |
Het |
Oog4 |
T |
A |
4: 143,166,459 (GRCm39) |
|
probably benign |
Het |
Or7g18 |
T |
A |
9: 18,786,795 (GRCm39) |
H57Q |
probably benign |
Het |
Polr2a |
G |
A |
11: 69,638,882 (GRCm39) |
R51C |
probably damaging |
Het |
Ppip5k2 |
A |
G |
1: 97,686,941 (GRCm39) |
V94A |
possibly damaging |
Het |
Ptprk |
G |
T |
10: 28,456,408 (GRCm39) |
R1056L |
probably damaging |
Het |
Rfx2 |
C |
T |
17: 57,111,348 (GRCm39) |
A75T |
probably benign |
Het |
Scn11a |
T |
C |
9: 119,632,548 (GRCm39) |
T441A |
probably benign |
Het |
Siglec1 |
A |
G |
2: 130,925,830 (GRCm39) |
V292A |
probably benign |
Het |
Smok2a |
G |
A |
17: 13,445,781 (GRCm39) |
A453T |
probably benign |
Het |
Tmcc3 |
T |
C |
10: 94,422,738 (GRCm39) |
V427A |
probably damaging |
Het |
Tmem208 |
T |
G |
8: 106,055,257 (GRCm39) |
I106S |
probably damaging |
Het |
Tpr |
A |
G |
1: 150,299,230 (GRCm39) |
|
probably benign |
Het |
Trav9-2 |
G |
T |
14: 53,828,810 (GRCm39) |
R60L |
probably benign |
Het |
Vcan |
T |
C |
13: 89,853,089 (GRCm39) |
K624E |
probably benign |
Het |
Zfp318 |
A |
T |
17: 46,723,915 (GRCm39) |
M1973L |
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 |
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'- GATAGTCTCCAGTGTGCTGTTCC -3'
(R):5'- TCCAGTTGATGAATCTGGCCAC -3'
Sequencing Primer
(F):5'- GGTATACTCACATTTGCCCTGGAAG -3'
(R):5'- GATGAATCTGGCCACATCATTTC -3'
|
Posted On |
2020-07-28 |