Incidental Mutation 'R9395:Lpl'
| ID |
710788 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lpl
|
| Ensembl Gene |
ENSMUSG00000015568 |
| Gene Name |
lipoprotein lipase |
| Synonyms |
O 1-4-5 |
| MMRRC Submission |
068965-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9395 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
69333207-69359584 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 69353952 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 431
(I431N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000015712
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015712]
[ENSMUST00000168401]
|
| AlphaFold |
P11152 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000015712
AA Change: I431N
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000015712
Gene: ENSMUSG00000015568
AA Change: I431N
| 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: I431N
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000132259
Gene: ENSMUSG00000015568
AA Change: I431N
| 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: 98.8%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh7 |
A |
T |
3: 137,927,477 (GRCm39) |
I8F |
probably damaging |
Het |
| Ak1 |
A |
G |
2: 32,523,708 (GRCm39) |
D207G |
probably damaging |
Het |
| Arhgef28 |
TAA |
TA |
13: 98,103,692 (GRCm39) |
|
probably null |
Het |
| Cacna2d1 |
T |
C |
5: 16,140,013 (GRCm39) |
M1T |
probably null |
Het |
| Cgnl1 |
T |
C |
9: 71,539,954 (GRCm39) |
M1097V |
probably benign |
Het |
| Chrm2 |
G |
A |
6: 36,501,196 (GRCm39) |
G351D |
possibly damaging |
Het |
| Cntnap2 |
C |
A |
6: 45,978,244 (GRCm39) |
R300S |
probably damaging |
Het |
| Cpa5 |
T |
C |
6: 30,631,280 (GRCm39) |
L398P |
probably damaging |
Het |
| Csl |
T |
A |
10: 99,595,020 (GRCm39) |
N15I |
probably damaging |
Het |
| Csrp3 |
A |
T |
7: 48,489,231 (GRCm39) |
V17D |
probably damaging |
Het |
| Cyb5d1 |
T |
C |
11: 69,284,531 (GRCm39) |
N207S |
probably benign |
Het |
| Ecel1 |
A |
T |
1: 87,082,350 (GRCm39) |
I121N |
probably damaging |
Het |
| Elapor2 |
T |
C |
5: 9,477,822 (GRCm39) |
S407P |
probably benign |
Het |
| Gad2 |
T |
C |
2: 22,514,879 (GRCm39) |
L119P |
probably damaging |
Het |
| Gpr139 |
A |
T |
7: 118,743,811 (GRCm39) |
M258K |
probably benign |
Het |
| Hhipl1 |
A |
G |
12: 108,285,009 (GRCm39) |
Y454C |
probably damaging |
Het |
| Ifitm10 |
A |
T |
7: 141,924,704 (GRCm39) |
V45D |
probably damaging |
Het |
| Myh14 |
A |
T |
7: 44,274,584 (GRCm39) |
W1235R |
possibly damaging |
Het |
| Nacc2 |
A |
G |
2: 25,950,128 (GRCm39) |
V536A |
probably damaging |
Het |
| Nalf2 |
C |
T |
X: 98,889,097 (GRCm39) |
R321W |
probably damaging |
Het |
| Neu4 |
T |
A |
1: 93,950,218 (GRCm39) |
L59Q |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,946,871 (GRCm39) |
I4088F |
probably damaging |
Het |
| Or8b37 |
T |
C |
9: 37,959,136 (GRCm39) |
V206A |
probably damaging |
Het |
| Otof |
G |
A |
5: 30,532,976 (GRCm39) |
R1589C |
probably damaging |
Het |
| Pla2g3 |
C |
T |
11: 3,440,952 (GRCm39) |
Q306* |
probably null |
Het |
| Pramel12 |
A |
G |
4: 143,145,605 (GRCm39) |
E358G |
probably benign |
Het |
| Prl6a1 |
A |
T |
13: 27,499,400 (GRCm39) |
H56L |
possibly damaging |
Het |
| Rev3l |
T |
C |
10: 39,735,219 (GRCm39) |
|
probably null |
Het |
| Rims2 |
T |
A |
15: 39,155,664 (GRCm39) |
F115Y |
probably damaging |
Het |
| Spcs2 |
T |
C |
7: 99,488,924 (GRCm39) |
T221A |
probably benign |
Het |
| Stmn1 |
C |
T |
4: 134,200,146 (GRCm39) |
A73V |
probably damaging |
Het |
| Syne1 |
T |
A |
10: 5,261,728 (GRCm39) |
K2250I |
probably damaging |
Het |
| Tcf7l2 |
C |
T |
19: 55,920,200 (GRCm39) |
Q578* |
probably null |
Het |
| Tgtp2 |
A |
T |
11: 48,950,083 (GRCm39) |
M163K |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,542,006 (GRCm39) |
N33660S |
probably benign |
Het |
| Txndc11 |
A |
G |
16: 10,902,683 (GRCm39) |
F655L |
probably benign |
Het |
| Ubtf |
G |
A |
11: 102,205,026 (GRCm39) |
T86I |
probably damaging |
Het |
| Vmn2r89 |
T |
A |
14: 51,693,783 (GRCm39) |
W378R |
probably damaging |
Het |
| Zic1 |
T |
A |
9: 91,247,070 (GRCm39) |
M1L |
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 |
|
R9323:Lpl
|
UTSW |
8 |
69,340,196 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9568:Lpl
|
UTSW |
8 |
69,340,235 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAATTTTCACCCAGGCC -3'
(R):5'- GGACCATGAAATACCTAGCTCC -3'
Sequencing Primer
(F):5'- AATTTTCACCCAGGCCCGAGG -3'
(R):5'- TTCCCAAGTGTGCAAGTG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation