Incidental Mutation 'R1444:Lpl'
| ID |
158714 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lpl
|
| Ensembl Gene |
ENSMUSG00000015568 |
| Gene Name |
lipoprotein lipase |
| Synonyms |
O 1-4-5 |
| MMRRC Submission |
039499-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1444 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
69333207-69359584 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 69345399 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 134
(D134E)
|
| 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: D134E
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000015712
Gene: ENSMUSG00000015568
AA Change: D134E
| 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 damaging
Transcript: ENSMUST00000168401
AA Change: D134E
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000132259
Gene: ENSMUSG00000015568
AA Change: D134E
| 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
|
| Meta Mutation Damage Score |
0.1929 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.4%
- 20x: 86.1%
|
| Validation Efficiency |
98% (59/60) |
| 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 |
|---|
| 1700030K09Rik |
A |
T |
8: 73,205,230 (GRCm39) |
D347V |
probably damaging |
Het |
| A630010A05Rik |
T |
A |
16: 14,427,558 (GRCm39) |
F82I |
possibly damaging |
Het |
| Acad9 |
T |
A |
3: 36,132,657 (GRCm39) |
F297L |
possibly damaging |
Het |
| Adgrl3 |
A |
T |
5: 81,660,200 (GRCm39) |
Y323F |
probably damaging |
Het |
| Brca2 |
T |
A |
5: 150,465,915 (GRCm39) |
M1893K |
probably benign |
Het |
| Cactin |
A |
T |
10: 81,158,270 (GRCm39) |
|
probably null |
Het |
| Cadm4 |
A |
G |
7: 24,203,046 (GRCm39) |
*389W |
probably null |
Het |
| Calr4 |
A |
G |
4: 109,103,438 (GRCm39) |
T183A |
possibly damaging |
Het |
| Card10 |
A |
T |
15: 78,672,041 (GRCm39) |
|
probably benign |
Het |
| Cdh6 |
C |
A |
15: 13,091,924 (GRCm39) |
G14C |
probably benign |
Het |
| Cds1 |
A |
G |
5: 101,946,245 (GRCm39) |
Y148C |
probably damaging |
Het |
| Chd1l |
C |
T |
3: 97,490,047 (GRCm39) |
E503K |
probably benign |
Het |
| Cr1l |
A |
T |
1: 194,813,510 (GRCm39) |
L35Q |
probably damaging |
Het |
| Daam2 |
T |
C |
17: 49,787,779 (GRCm39) |
R445G |
possibly damaging |
Het |
| Ddn |
G |
A |
15: 98,704,485 (GRCm39) |
T269M |
probably damaging |
Het |
| Epb41 |
G |
A |
4: 131,733,382 (GRCm39) |
S176L |
probably benign |
Het |
| Ephx2 |
T |
C |
14: 66,344,769 (GRCm39) |
D167G |
probably damaging |
Het |
| Erbb4 |
G |
A |
1: 68,293,759 (GRCm39) |
R711C |
probably damaging |
Het |
| Flg2 |
T |
A |
3: 93,109,620 (GRCm39) |
H549Q |
unknown |
Het |
| Gje1 |
A |
G |
10: 14,592,380 (GRCm39) |
|
probably null |
Het |
| Heatr5b |
G |
A |
17: 79,060,622 (GRCm39) |
H2018Y |
probably benign |
Het |
| Heatr5b |
A |
T |
17: 79,062,856 (GRCm39) |
|
probably benign |
Het |
| Hectd3 |
G |
T |
4: 116,853,593 (GRCm39) |
R189L |
probably benign |
Het |
| Hsd3b6 |
T |
C |
3: 98,715,237 (GRCm39) |
T52A |
probably benign |
Het |
| Il10rb |
T |
G |
16: 91,218,675 (GRCm39) |
|
probably null |
Het |
| Kcnc2 |
T |
C |
10: 112,291,506 (GRCm39) |
|
probably benign |
Het |
| Lrit1 |
T |
C |
14: 36,783,928 (GRCm39) |
F419L |
probably benign |
Het |
| Mmp8 |
T |
C |
9: 7,567,264 (GRCm39) |
C422R |
probably benign |
Het |
| Myo18b |
A |
G |
5: 112,923,117 (GRCm39) |
|
probably null |
Het |
| Ncor1 |
T |
A |
11: 62,294,632 (GRCm39) |
I280F |
probably damaging |
Het |
| Obox2 |
A |
C |
7: 15,130,957 (GRCm39) |
Q63P |
possibly damaging |
Het |
| Or2ad1 |
C |
T |
13: 21,326,337 (GRCm39) |
V297I |
probably benign |
Het |
| Or4d2b |
T |
A |
11: 87,780,585 (GRCm39) |
I46L |
probably benign |
Het |
| Phldb2 |
T |
A |
16: 45,577,616 (GRCm39) |
|
probably benign |
Het |
| Pkd1l1 |
A |
G |
11: 8,804,386 (GRCm39) |
F1735S |
probably damaging |
Het |
| Pramel11 |
G |
T |
4: 143,623,461 (GRCm39) |
L238I |
probably benign |
Het |
| Prss30 |
T |
C |
17: 24,192,712 (GRCm39) |
Y156C |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,333,226 (GRCm39) |
S2812P |
probably damaging |
Het |
| Rttn |
A |
G |
18: 89,060,991 (GRCm39) |
D1053G |
probably benign |
Het |
| Slc6a2 |
A |
G |
8: 93,697,882 (GRCm39) |
N120S |
probably damaging |
Het |
| Snrnp200 |
T |
C |
2: 127,070,158 (GRCm39) |
|
probably benign |
Het |
| Spindoc |
G |
T |
19: 7,360,086 (GRCm39) |
D27E |
probably benign |
Het |
| Svep1 |
T |
C |
4: 58,115,754 (GRCm39) |
T980A |
possibly damaging |
Het |
| Tgfbr1 |
A |
G |
4: 47,393,259 (GRCm39) |
E46G |
probably benign |
Het |
| Tmem183a |
T |
C |
1: 134,289,284 (GRCm39) |
I49V |
probably benign |
Het |
| Tmem212 |
C |
T |
3: 27,939,244 (GRCm39) |
V81I |
possibly damaging |
Het |
| Toporsl |
T |
A |
4: 52,610,254 (GRCm39) |
I49N |
probably benign |
Het |
| Trim67 |
A |
G |
8: 125,549,932 (GRCm39) |
T521A |
probably benign |
Het |
| Vsnl1 |
T |
C |
12: 11,382,219 (GRCm39) |
|
probably null |
Het |
| Wdr87-ps |
T |
C |
7: 29,229,380 (GRCm39) |
|
noncoding transcript |
Het |
| Xrn2 |
C |
T |
2: 146,903,408 (GRCm39) |
R803W |
probably damaging |
Het |
| Zfp131 |
A |
T |
13: 120,251,784 (GRCm39) |
C9S |
probably damaging |
Het |
| Zfp750 |
C |
T |
11: 121,402,873 (GRCm39) |
S625N |
probably damaging |
Het |
| Zfp871 |
G |
T |
17: 32,993,900 (GRCm39) |
T406N |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTCCTTTTCAGGTAACGGGAATGT -3'
(R):5'- GCCCCACACAATGAGGGTGACTAT -3'
Sequencing Primer
(F):5'- CTTTTCAGGTAACGGGAATGTATGAG -3'
(R):5'- tgtgggggtgggcaaag -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation