Incidental Mutation 'IGL01975:Ldlr'
| ID |
182649 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ldlr
|
| Ensembl Gene |
ENSMUSG00000032193 |
| Gene Name |
low density lipoprotein receptor |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01975
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
21634872-21661215 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 21644993 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 174
(V174I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034713
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034713]
[ENSMUST00000213114]
|
| AlphaFold |
P35951 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034713
AA Change: V174I
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000034713
Gene: ENSMUSG00000032193
AA Change: V174I
| 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 benign
Transcript: ENSMUST00000213114
AA Change: V174I
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214359
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215917
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217111
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217613
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
C |
T |
5: 8,217,396 (GRCm39) |
C133Y |
probably damaging |
Het |
| Akap3 |
G |
T |
6: 126,850,963 (GRCm39) |
S827I |
probably damaging |
Het |
| Arhgap20 |
C |
T |
9: 51,761,097 (GRCm39) |
Q947* |
probably null |
Het |
| Csf2rb2 |
A |
G |
15: 78,173,086 (GRCm39) |
I258T |
probably benign |
Het |
| Egln2 |
T |
C |
7: 26,859,745 (GRCm39) |
I323V |
possibly damaging |
Het |
| Erlin1 |
C |
A |
19: 44,025,370 (GRCm39) |
G348V |
probably damaging |
Het |
| Fbxo38 |
C |
T |
18: 62,648,484 (GRCm39) |
A685T |
probably damaging |
Het |
| Gm10272 |
G |
A |
10: 77,542,608 (GRCm39) |
C50Y |
probably damaging |
Het |
| Gm11559 |
G |
T |
11: 99,755,682 (GRCm39) |
Q110H |
unknown |
Het |
| Gpr75 |
T |
C |
11: 30,841,835 (GRCm39) |
S247P |
probably benign |
Het |
| Grid1 |
A |
T |
14: 35,045,383 (GRCm39) |
M409L |
probably benign |
Het |
| Herc3 |
A |
C |
6: 58,893,561 (GRCm39) |
D941A |
possibly damaging |
Het |
| Ilf3 |
T |
A |
9: 21,303,675 (GRCm39) |
S166T |
probably benign |
Het |
| Kcnu1 |
A |
C |
8: 26,424,525 (GRCm39) |
E273D |
probably benign |
Het |
| Kdm8 |
A |
G |
7: 125,051,529 (GRCm39) |
S41G |
probably benign |
Het |
| Lpar5 |
T |
C |
6: 125,058,750 (GRCm39) |
L157P |
probably damaging |
Het |
| Mcrs1 |
A |
G |
15: 99,141,559 (GRCm39) |
|
probably null |
Het |
| Ndst3 |
T |
A |
3: 123,395,163 (GRCm39) |
Y489F |
possibly damaging |
Het |
| Or6c69c |
A |
G |
10: 129,911,139 (GRCm39) |
I287V |
probably damaging |
Het |
| Palmd |
A |
T |
3: 116,717,283 (GRCm39) |
S405T |
probably benign |
Het |
| Ptger1 |
T |
C |
8: 84,396,149 (GRCm39) |
|
probably benign |
Het |
| Rbp3 |
A |
T |
14: 33,680,602 (GRCm39) |
K1068M |
probably damaging |
Het |
| Rimbp2 |
T |
C |
5: 128,874,712 (GRCm39) |
D293G |
probably benign |
Het |
| Rnf20 |
T |
A |
4: 49,654,473 (GRCm39) |
D843E |
probably benign |
Het |
| Rxfp1 |
A |
G |
3: 79,567,385 (GRCm39) |
S322P |
possibly damaging |
Het |
| Slc22a8 |
T |
A |
19: 8,582,775 (GRCm39) |
I152N |
probably damaging |
Het |
| Slc6a21 |
T |
A |
7: 44,937,275 (GRCm39) |
D268E |
probably benign |
Het |
| Sstr1 |
A |
G |
12: 58,260,412 (GRCm39) |
N345S |
probably benign |
Het |
| Stx17 |
T |
C |
4: 48,180,670 (GRCm39) |
S172P |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,018,908 (GRCm39) |
|
probably benign |
Het |
| Tpte |
A |
G |
8: 22,839,353 (GRCm39) |
T467A |
probably damaging |
Het |
| Trappc12 |
A |
G |
12: 28,742,491 (GRCm39) |
|
probably null |
Het |
| Trav13-2 |
A |
T |
14: 53,872,823 (GRCm39) |
T100S |
possibly damaging |
Het |
| Trip12 |
A |
G |
1: 84,792,534 (GRCm39) |
|
probably benign |
Het |
| Wdr36 |
A |
G |
18: 32,985,541 (GRCm39) |
H486R |
probably damaging |
Het |
| Zswim5 |
T |
C |
4: 116,822,889 (GRCm39) |
I453T |
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 |
|
|
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 |
|
R5046:Ldlr
|
UTSW |
9 |
21,657,203 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation