Incidental Mutation 'R5046:Ldlr'
| ID |
394377 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ldlr
|
| Ensembl Gene |
ENSMUSG00000032193 |
| Gene Name |
low density lipoprotein receptor |
| Synonyms |
|
| MMRRC Submission |
042636-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5046 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
21634872-21661215 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 21657203 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149431
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034713]
[ENSMUST00000213114]
|
| AlphaFold |
P35951 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000034713
|
| SMART Domains |
Protein: ENSMUSP00000034713
Gene: ENSMUSG00000032193
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
23 |
N/A |
INTRINSIC |
|
LDLa
|
26 |
65 |
1.89e-14 |
SMART |
|
LDLa
|
67 |
106 |
9.81e-13 |
SMART |
|
EGF_like
|
108 |
144 |
6.81e1 |
SMART |
|
LDLa
|
108 |
145 |
3.77e-14 |
SMART |
|
LDLa
|
147 |
186 |
6.67e-15 |
SMART |
|
LDLa
|
197 |
234 |
1.16e-14 |
SMART |
|
LDLa
|
236 |
273 |
3.24e-13 |
SMART |
|
LDLa
|
276 |
316 |
1e-9 |
SMART |
|
EGF
|
318 |
354 |
3.2e-4 |
SMART |
|
EGF_CA
|
355 |
394 |
4.09e-11 |
SMART |
|
LY
|
420 |
462 |
1.11e-3 |
SMART |
|
LY
|
466 |
508 |
4.7e-11 |
SMART |
|
LY
|
509 |
552 |
5.23e-9 |
SMART |
|
LY
|
553 |
595 |
7.86e-13 |
SMART |
|
LY
|
596 |
639 |
3.25e-5 |
SMART |
|
EGF
|
666 |
713 |
7.64e-2 |
SMART |
|
low complexity region
|
799 |
811 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000213114
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214549
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217111
|
| Meta Mutation Damage Score |
0.9489 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
| Validation Efficiency |
100% (52/52) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. Low density lipoprotein (LDL) is normally bound at the cell membrane and taken into the cell ending up in lysosomes where the protein is degraded and the cholesterol is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010]
PHENOTYPE: Homozygous targeted mutants exhibit 2X higher total plasma cholesterol and 7-9X higher IDL and LDL levels on a normal diet compared to controls. On a high cholesterol diet, mutant effects dramatically increase and mice develop xanthomatosis and atherosclerosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm4 |
C |
A |
7: 119,302,597 (GRCm39) |
H241N |
probably damaging |
Het |
| Arhgap32 |
G |
A |
9: 32,168,095 (GRCm39) |
A693T |
probably damaging |
Het |
| B4galnt3 |
G |
T |
6: 120,191,759 (GRCm39) |
A658D |
probably damaging |
Het |
| Car12 |
G |
A |
9: 66,653,895 (GRCm39) |
E84K |
probably benign |
Het |
| Crocc2 |
T |
A |
1: 93,133,624 (GRCm39) |
S969T |
probably damaging |
Het |
| Crym |
A |
G |
7: 119,794,667 (GRCm39) |
V184A |
possibly damaging |
Het |
| Cryzl2 |
T |
C |
1: 157,292,583 (GRCm39) |
C122R |
probably damaging |
Het |
| Defb30 |
T |
C |
14: 63,273,463 (GRCm39) |
E49G |
probably benign |
Het |
| Dnah3 |
A |
G |
7: 119,550,803 (GRCm39) |
L3161P |
probably damaging |
Het |
| Dnajc5g |
A |
G |
5: 31,267,036 (GRCm39) |
N104S |
probably benign |
Het |
| Fcgr1 |
T |
G |
3: 96,194,302 (GRCm39) |
K195T |
probably damaging |
Het |
| Gal |
C |
T |
19: 3,461,167 (GRCm39) |
R89H |
probably damaging |
Het |
| Gcfc2 |
C |
T |
6: 81,925,316 (GRCm39) |
A577V |
probably benign |
Het |
| Gm5116 |
A |
C |
7: 32,195,379 (GRCm39) |
|
noncoding transcript |
Het |
| Golga3 |
A |
T |
5: 110,340,806 (GRCm39) |
Q540L |
probably damaging |
Het |
| Hectd1 |
T |
C |
12: 51,797,171 (GRCm39) |
E2184G |
probably damaging |
Het |
| Hspa12a |
T |
C |
19: 58,787,977 (GRCm39) |
D615G |
probably damaging |
Het |
| Igkv14-130 |
A |
T |
6: 67,768,465 (GRCm39) |
Y107F |
probably damaging |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Lrrc37a |
A |
T |
11: 103,389,066 (GRCm39) |
S2120T |
unknown |
Het |
| Mtfmt |
G |
T |
9: 65,346,897 (GRCm39) |
V164F |
probably damaging |
Het |
| Nampt |
T |
C |
12: 32,883,037 (GRCm39) |
V74A |
probably damaging |
Het |
| Ndufc2 |
G |
T |
7: 97,056,871 (GRCm39) |
R120L |
probably damaging |
Het |
| Neo1 |
A |
T |
9: 58,801,194 (GRCm39) |
V1156D |
possibly damaging |
Het |
| Nlrp1b |
G |
A |
11: 71,050,898 (GRCm39) |
P1065S |
possibly damaging |
Het |
| Nop9 |
A |
G |
14: 55,983,397 (GRCm39) |
H56R |
possibly damaging |
Het |
| Or4k41 |
A |
T |
2: 111,279,934 (GRCm39) |
T150S |
probably benign |
Het |
| Or6c75 |
A |
T |
10: 129,337,178 (GRCm39) |
M142L |
possibly damaging |
Het |
| Pign |
A |
T |
1: 105,449,798 (GRCm39) |
N909K |
possibly damaging |
Het |
| Prex1 |
A |
G |
2: 166,414,883 (GRCm39) |
V304A |
probably benign |
Het |
| Racgap1 |
G |
A |
15: 99,526,643 (GRCm39) |
R307W |
probably damaging |
Het |
| Rap1gds1 |
C |
A |
3: 138,661,181 (GRCm39) |
E399* |
probably null |
Het |
| Rwdd4a |
G |
A |
8: 47,995,837 (GRCm39) |
|
probably null |
Het |
| Sanbr |
A |
C |
11: 23,570,354 (GRCm39) |
M182R |
probably benign |
Het |
| Scp2 |
T |
C |
4: 107,928,488 (GRCm39) |
T401A |
probably benign |
Het |
| Sdha |
A |
G |
13: 74,475,452 (GRCm39) |
F526S |
probably damaging |
Het |
| Shroom1 |
T |
A |
11: 53,354,872 (GRCm39) |
L264Q |
probably benign |
Het |
| Sorl1 |
T |
C |
9: 41,907,590 (GRCm39) |
T1466A |
probably benign |
Het |
| Trpm2 |
C |
T |
10: 77,801,852 (GRCm39) |
C71Y |
probably damaging |
Het |
| Ugt2b34 |
G |
A |
5: 87,052,246 (GRCm39) |
S250L |
probably benign |
Het |
| Vmn2r88 |
A |
G |
14: 51,650,638 (GRCm39) |
D117G |
probably benign |
Het |
| Wdr73 |
A |
T |
7: 80,542,173 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ldlr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00501:Ldlr
|
APN |
9 |
21,646,657 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01975:Ldlr
|
APN |
9 |
21,644,993 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02043:Ldlr
|
APN |
9 |
21,644,795 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02524:Ldlr
|
APN |
9 |
21,644,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03049:Ldlr
|
APN |
9 |
21,657,115 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03113:Ldlr
|
APN |
9 |
21,651,124 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0240:Ldlr
|
UTSW |
9 |
21,649,295 (GRCm39) |
splice site |
probably benign |
|
|
R0586:Ldlr
|
UTSW |
9 |
21,651,040 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1398:Ldlr
|
UTSW |
9 |
21,650,838 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1587:Ldlr
|
UTSW |
9 |
21,649,209 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2198:Ldlr
|
UTSW |
9 |
21,643,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3730:Ldlr
|
UTSW |
9 |
21,643,097 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4422:Ldlr
|
UTSW |
9 |
21,649,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5044:Ldlr
|
UTSW |
9 |
21,646,538 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6186:Ldlr
|
UTSW |
9 |
21,635,055 (GRCm39) |
start gained |
probably benign |
|
|
R6195:Ldlr
|
UTSW |
9 |
21,643,077 (GRCm39) |
nonsense |
probably null |
|
|
R6523:Ldlr
|
UTSW |
9 |
21,648,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6682:Ldlr
|
UTSW |
9 |
21,643,671 (GRCm39) |
missense |
probably benign |
|
|
R7256:Ldlr
|
UTSW |
9 |
21,657,040 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7384:Ldlr
|
UTSW |
9 |
21,651,090 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7823:Ldlr
|
UTSW |
9 |
21,653,602 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8065:Ldlr
|
UTSW |
9 |
21,649,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8223:Ldlr
|
UTSW |
9 |
21,658,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8732:Ldlr
|
UTSW |
9 |
21,650,985 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8931:Ldlr
|
UTSW |
9 |
21,643,108 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8954:Ldlr
|
UTSW |
9 |
21,650,828 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9315:Ldlr
|
UTSW |
9 |
21,644,782 (GRCm39) |
splice site |
probably benign |
|
|
R9489:Ldlr
|
UTSW |
9 |
21,646,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9517:Ldlr
|
UTSW |
9 |
21,655,240 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9605:Ldlr
|
UTSW |
9 |
21,646,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9709:Ldlr
|
UTSW |
9 |
21,657,135 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0024:Ldlr
|
UTSW |
9 |
21,651,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ldlr
|
UTSW |
9 |
21,651,126 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCGACACTGTACTGACCAC -3'
(R):5'- TTTGCACAGAAACTGTACCCAC -3'
Sequencing Primer
(F):5'- ACTGTACTGACCACCCAGGG -3'
(R):5'- TGCCAAGCTTGCTAACCTGAG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation