Incidental Mutation 'IGL01346:Vldlr'
ID |
75055 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Vldlr
|
Ensembl Gene |
ENSMUSG00000024924 |
Gene Name |
very low density lipoprotein receptor |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.285)
|
Stock # |
IGL01346
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
27193884-27231631 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 27217081 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 45
(I45L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130382
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025866]
[ENSMUST00000047645]
[ENSMUST00000164746]
[ENSMUST00000165761]
[ENSMUST00000167487]
[ENSMUST00000172302]
|
AlphaFold |
P98156 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025866
AA Change: I376L
PolyPhen 2
Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000025866 Gene: ENSMUSG00000024924 AA Change: I376L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
EGF_like
|
32 |
68 |
7.38e1 |
SMART |
LDLa
|
32 |
69 |
1.69e-16 |
SMART |
LDLa
|
71 |
110 |
5.81e-15 |
SMART |
LDLa
|
112 |
151 |
1.96e-12 |
SMART |
LDLa
|
153 |
190 |
7.15e-15 |
SMART |
LDLa
|
192 |
231 |
1.23e-13 |
SMART |
LDLa
|
238 |
275 |
1.1e-15 |
SMART |
LDLa
|
277 |
314 |
1.13e-12 |
SMART |
LDLa
|
317 |
357 |
3.86e-11 |
SMART |
EGF_CA
|
356 |
395 |
1e-5 |
SMART |
EGF_CA
|
396 |
435 |
6.1e-10 |
SMART |
Blast:LY
|
461 |
495 |
4e-15 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000047645
AA Change: I335L
PolyPhen 2
Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000049145 Gene: ENSMUSG00000024924 AA Change: I335L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
EGF_like
|
32 |
68 |
7.38e1 |
SMART |
LDLa
|
32 |
69 |
1.69e-16 |
SMART |
LDLa
|
71 |
110 |
1.25e-14 |
SMART |
LDLa
|
112 |
149 |
7.15e-15 |
SMART |
LDLa
|
151 |
190 |
1.23e-13 |
SMART |
LDLa
|
197 |
234 |
1.1e-15 |
SMART |
LDLa
|
236 |
273 |
1.13e-12 |
SMART |
LDLa
|
276 |
316 |
3.86e-11 |
SMART |
EGF_CA
|
315 |
354 |
1e-5 |
SMART |
EGF_CA
|
355 |
394 |
6.1e-10 |
SMART |
LY
|
420 |
462 |
2.16e-1 |
SMART |
LY
|
464 |
506 |
9.54e-12 |
SMART |
LY
|
507 |
550 |
2.22e-12 |
SMART |
LY
|
551 |
593 |
1.66e-11 |
SMART |
LY
|
594 |
637 |
5.97e-4 |
SMART |
EGF
|
664 |
709 |
2.16e-1 |
SMART |
transmembrane domain
|
728 |
750 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164509
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164746
|
SMART Domains |
Protein: ENSMUSP00000128193 Gene: ENSMUSG00000024924
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
LDLa
|
32 |
69 |
1.69e-16 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165761
AA Change: I45L
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000130382 Gene: ENSMUSG00000024924 AA Change: I45L
Domain | Start | End | E-Value | Type |
LDLa
|
1 |
26 |
1.58e0 |
SMART |
EGF
|
28 |
64 |
4e-5 |
SMART |
LY
|
88 |
130 |
2.16e-1 |
SMART |
LY
|
132 |
174 |
9.54e-12 |
SMART |
LY
|
175 |
218 |
2.22e-12 |
SMART |
LY
|
219 |
258 |
3.25e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167487
AA Change: I376L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000127329 Gene: ENSMUSG00000024924 AA Change: I376L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
EGF_like
|
32 |
68 |
7.38e1 |
SMART |
LDLa
|
32 |
69 |
1.69e-16 |
SMART |
LDLa
|
71 |
110 |
5.81e-15 |
SMART |
LDLa
|
112 |
151 |
1.96e-12 |
SMART |
LDLa
|
153 |
190 |
7.15e-15 |
SMART |
LDLa
|
192 |
231 |
1.23e-13 |
SMART |
LDLa
|
238 |
275 |
1.1e-15 |
SMART |
LDLa
|
277 |
314 |
1.13e-12 |
SMART |
LDLa
|
317 |
357 |
3.86e-11 |
SMART |
EGF_CA
|
356 |
395 |
1e-5 |
SMART |
EGF_CA
|
396 |
435 |
6.1e-10 |
SMART |
LY
|
461 |
503 |
2.16e-1 |
SMART |
LY
|
505 |
547 |
9.54e-12 |
SMART |
LY
|
548 |
591 |
2.22e-12 |
SMART |
LY
|
592 |
634 |
1.66e-11 |
SMART |
LY
|
635 |
678 |
5.97e-4 |
SMART |
EGF
|
705 |
750 |
2.16e-1 |
SMART |
transmembrane domain
|
797 |
819 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172302
AA Change: I376L
PolyPhen 2
Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000126730 Gene: ENSMUSG00000024924 AA Change: I376L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
EGF_like
|
32 |
68 |
7.38e1 |
SMART |
LDLa
|
32 |
69 |
1.69e-16 |
SMART |
LDLa
|
71 |
110 |
5.81e-15 |
SMART |
LDLa
|
112 |
151 |
1.96e-12 |
SMART |
LDLa
|
153 |
190 |
7.15e-15 |
SMART |
LDLa
|
192 |
231 |
1.23e-13 |
SMART |
LDLa
|
238 |
275 |
1.1e-15 |
SMART |
LDLa
|
277 |
314 |
1.13e-12 |
SMART |
LDLa
|
317 |
357 |
3.86e-11 |
SMART |
EGF_CA
|
356 |
395 |
1e-5 |
SMART |
EGF_CA
|
396 |
435 |
6.1e-10 |
SMART |
LY
|
461 |
503 |
2.16e-1 |
SMART |
LY
|
505 |
547 |
9.54e-12 |
SMART |
LY
|
548 |
591 |
2.22e-12 |
SMART |
LY
|
592 |
634 |
1.66e-11 |
SMART |
LY
|
635 |
678 |
5.97e-4 |
SMART |
EGF
|
705 |
750 |
2.16e-1 |
SMART |
transmembrane domain
|
769 |
791 |
N/A |
INTRINSIC |
|
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. This gene encodes a lipoprotein receptor that is a member of the LDLR family and plays important roles in VLDL-triglyceride metabolism and the reelin signaling pathway. Mutations in this gene cause VLDLR-associated cerebellar hypoplasia. Alternative splicing generates multiple transcript variants encoding distinct isoforms for this gene. [provided by RefSeq, Aug 2009] PHENOTYPE: Homozygous null mutants exhibit modest reductions in body weight and adiposity. In behavioral tests, mutants display deficits in contextual fear conditioning and long term potentiation. [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 |
3300002I08Rik |
A |
G |
2: 150,152,980 (GRCm39) |
V135A |
unknown |
Het |
Cnot4 |
A |
T |
6: 35,047,183 (GRCm39) |
I143N |
probably damaging |
Het |
Cnot6l |
A |
T |
5: 96,234,105 (GRCm39) |
M302K |
probably damaging |
Het |
Dmxl2 |
T |
C |
9: 54,322,759 (GRCm39) |
T1542A |
probably damaging |
Het |
Dnaaf9 |
A |
G |
2: 130,633,766 (GRCm39) |
|
probably benign |
Het |
Dnhd1 |
T |
C |
7: 105,363,116 (GRCm39) |
S3893P |
probably benign |
Het |
Duox2 |
A |
T |
2: 122,117,683 (GRCm39) |
|
probably benign |
Het |
Dusp1 |
T |
C |
17: 26,725,295 (GRCm39) |
N355D |
probably benign |
Het |
Fam76b |
T |
C |
9: 13,741,046 (GRCm39) |
C60R |
probably damaging |
Het |
Gnptab |
G |
A |
10: 88,272,041 (GRCm39) |
V944I |
possibly damaging |
Het |
Gys1 |
A |
G |
7: 45,091,961 (GRCm39) |
Y249C |
probably damaging |
Het |
Ift88 |
A |
T |
14: 57,681,862 (GRCm39) |
E215D |
probably damaging |
Het |
Kcnu1 |
T |
C |
8: 26,424,551 (GRCm39) |
|
probably benign |
Het |
Lmln |
C |
A |
16: 32,937,490 (GRCm39) |
N618K |
probably benign |
Het |
Lrrc75a |
T |
C |
11: 62,496,813 (GRCm39) |
T250A |
probably damaging |
Het |
Mpp4 |
A |
G |
1: 59,164,719 (GRCm39) |
S435P |
probably damaging |
Het |
Myo1c |
T |
A |
11: 75,563,076 (GRCm39) |
V1036E |
probably damaging |
Het |
Nlrp12 |
T |
G |
7: 3,289,316 (GRCm39) |
T399P |
probably damaging |
Het |
Or2y16 |
A |
G |
11: 49,335,595 (GRCm39) |
R306G |
probably benign |
Het |
Or4c118 |
A |
G |
2: 88,974,575 (GRCm39) |
F264S |
possibly damaging |
Het |
Parp8 |
A |
T |
13: 117,031,600 (GRCm39) |
C332S |
possibly damaging |
Het |
Pdcd11 |
G |
A |
19: 47,098,053 (GRCm39) |
V780I |
probably benign |
Het |
Plekha5 |
A |
G |
6: 140,480,292 (GRCm39) |
|
probably benign |
Het |
Ppt1 |
T |
A |
4: 122,737,848 (GRCm39) |
I62K |
probably damaging |
Het |
Proser3 |
T |
C |
7: 30,249,071 (GRCm39) |
N7S |
probably benign |
Het |
Ptk2b |
A |
G |
14: 66,414,567 (GRCm39) |
L311P |
possibly damaging |
Het |
Rasal2 |
T |
C |
1: 156,988,786 (GRCm39) |
N706S |
probably benign |
Het |
Ripk2 |
A |
G |
4: 16,132,775 (GRCm39) |
|
probably null |
Het |
Setx |
T |
A |
2: 29,034,821 (GRCm39) |
H435Q |
probably damaging |
Het |
Smurf2 |
T |
A |
11: 106,721,741 (GRCm39) |
|
probably benign |
Het |
Snx32 |
A |
G |
19: 5,547,764 (GRCm39) |
L182P |
possibly damaging |
Het |
Stpg2 |
A |
G |
3: 139,125,635 (GRCm39) |
|
probably benign |
Het |
Taar2 |
A |
G |
10: 23,816,997 (GRCm39) |
Y179C |
probably damaging |
Het |
Tenm2 |
G |
A |
11: 35,918,232 (GRCm39) |
R1843* |
probably null |
Het |
Tmco4 |
T |
C |
4: 138,748,260 (GRCm39) |
I280T |
probably damaging |
Het |
Tuba4a |
C |
A |
1: 75,193,921 (GRCm39) |
C46F |
probably damaging |
Het |
Ubr1 |
A |
G |
2: 120,703,603 (GRCm39) |
|
probably null |
Het |
Vmn2r120 |
C |
A |
17: 57,852,232 (GRCm39) |
G28V |
probably benign |
Het |
Vmn2r37 |
C |
A |
7: 9,209,680 (GRCm39) |
V611L |
probably benign |
Het |
Vmn2r67 |
A |
G |
7: 84,786,127 (GRCm39) |
L626P |
probably damaging |
Het |
Wdr19 |
C |
T |
5: 65,379,082 (GRCm39) |
|
probably benign |
Het |
Zfp595 |
T |
A |
13: 67,464,749 (GRCm39) |
K505* |
probably null |
Het |
|
Other mutations in Vldlr |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01575:Vldlr
|
APN |
19 |
27,224,031 (GRCm39) |
missense |
probably benign |
|
IGL01626:Vldlr
|
APN |
19 |
27,221,173 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02213:Vldlr
|
APN |
19 |
27,218,726 (GRCm39) |
missense |
probably benign |
0.09 |
IGL02365:Vldlr
|
APN |
19 |
27,223,025 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02488:Vldlr
|
APN |
19 |
27,215,675 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02708:Vldlr
|
APN |
19 |
27,215,485 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02947:Vldlr
|
APN |
19 |
27,217,120 (GRCm39) |
missense |
probably benign |
0.03 |
disturbed
|
UTSW |
19 |
27,216,204 (GRCm39) |
nonsense |
probably null |
|
r26
|
UTSW |
19 |
27,223,054 (GRCm39) |
missense |
probably damaging |
0.99 |
spotty
|
UTSW |
19 |
27,216,192 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4142001:Vldlr
|
UTSW |
19 |
27,212,269 (GRCm39) |
missense |
probably benign |
0.05 |
R0195:Vldlr
|
UTSW |
19 |
27,215,786 (GRCm39) |
missense |
probably damaging |
1.00 |
R0288:Vldlr
|
UTSW |
19 |
27,218,051 (GRCm39) |
splice site |
probably benign |
|
R0536:Vldlr
|
UTSW |
19 |
27,217,364 (GRCm39) |
missense |
probably damaging |
1.00 |
R0537:Vldlr
|
UTSW |
19 |
27,225,318 (GRCm39) |
missense |
probably damaging |
1.00 |
R0542:Vldlr
|
UTSW |
19 |
27,213,655 (GRCm39) |
missense |
probably benign |
0.01 |
R0594:Vldlr
|
UTSW |
19 |
27,212,219 (GRCm39) |
missense |
probably damaging |
1.00 |
R0624:Vldlr
|
UTSW |
19 |
27,215,663 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0726:Vldlr
|
UTSW |
19 |
27,215,786 (GRCm39) |
missense |
probably damaging |
1.00 |
R1017:Vldlr
|
UTSW |
19 |
27,218,733 (GRCm39) |
missense |
probably damaging |
1.00 |
R1148:Vldlr
|
UTSW |
19 |
27,218,691 (GRCm39) |
missense |
probably benign |
0.01 |
R1148:Vldlr
|
UTSW |
19 |
27,218,691 (GRCm39) |
missense |
probably benign |
0.01 |
R1443:Vldlr
|
UTSW |
19 |
27,217,121 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1493:Vldlr
|
UTSW |
19 |
27,218,691 (GRCm39) |
missense |
probably benign |
0.01 |
R1520:Vldlr
|
UTSW |
19 |
27,224,466 (GRCm39) |
missense |
possibly damaging |
0.96 |
R1520:Vldlr
|
UTSW |
19 |
27,217,943 (GRCm39) |
missense |
probably damaging |
0.99 |
R1657:Vldlr
|
UTSW |
19 |
27,223,070 (GRCm39) |
missense |
probably benign |
0.00 |
R1901:Vldlr
|
UTSW |
19 |
27,218,709 (GRCm39) |
missense |
probably damaging |
1.00 |
R2047:Vldlr
|
UTSW |
19 |
27,212,238 (GRCm39) |
missense |
probably damaging |
1.00 |
R2258:Vldlr
|
UTSW |
19 |
27,215,786 (GRCm39) |
missense |
probably damaging |
1.00 |
R2273:Vldlr
|
UTSW |
19 |
27,225,415 (GRCm39) |
missense |
probably damaging |
1.00 |
R2423:Vldlr
|
UTSW |
19 |
27,213,688 (GRCm39) |
missense |
possibly damaging |
0.49 |
R3196:Vldlr
|
UTSW |
19 |
27,220,554 (GRCm39) |
missense |
probably damaging |
0.98 |
R3752:Vldlr
|
UTSW |
19 |
27,215,731 (GRCm39) |
missense |
probably damaging |
1.00 |
R3801:Vldlr
|
UTSW |
19 |
27,195,021 (GRCm39) |
missense |
probably damaging |
0.99 |
R3835:Vldlr
|
UTSW |
19 |
27,212,214 (GRCm39) |
missense |
probably damaging |
1.00 |
R4027:Vldlr
|
UTSW |
19 |
27,215,713 (GRCm39) |
missense |
probably benign |
|
R4301:Vldlr
|
UTSW |
19 |
27,215,802 (GRCm39) |
missense |
possibly damaging |
0.80 |
R4470:Vldlr
|
UTSW |
19 |
27,212,219 (GRCm39) |
missense |
probably damaging |
0.96 |
R4541:Vldlr
|
UTSW |
19 |
27,216,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R4765:Vldlr
|
UTSW |
19 |
27,217,947 (GRCm39) |
missense |
probably damaging |
1.00 |
R4771:Vldlr
|
UTSW |
19 |
27,217,290 (GRCm39) |
missense |
probably damaging |
0.97 |
R4795:Vldlr
|
UTSW |
19 |
27,216,252 (GRCm39) |
splice site |
probably null |
|
R4839:Vldlr
|
UTSW |
19 |
27,215,465 (GRCm39) |
missense |
probably damaging |
1.00 |
R5074:Vldlr
|
UTSW |
19 |
27,215,677 (GRCm39) |
missense |
probably damaging |
1.00 |
R5134:Vldlr
|
UTSW |
19 |
27,216,212 (GRCm39) |
nonsense |
probably null |
|
R5281:Vldlr
|
UTSW |
19 |
27,221,631 (GRCm39) |
missense |
probably benign |
0.44 |
R5466:Vldlr
|
UTSW |
19 |
27,217,243 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5514:Vldlr
|
UTSW |
19 |
27,221,624 (GRCm39) |
missense |
probably damaging |
0.97 |
R5886:Vldlr
|
UTSW |
19 |
27,221,171 (GRCm39) |
missense |
probably benign |
0.03 |
R5889:Vldlr
|
UTSW |
19 |
27,217,064 (GRCm39) |
missense |
probably damaging |
1.00 |
R6110:Vldlr
|
UTSW |
19 |
27,215,477 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6343:Vldlr
|
UTSW |
19 |
27,223,049 (GRCm39) |
missense |
probably damaging |
0.99 |
R6833:Vldlr
|
UTSW |
19 |
27,217,974 (GRCm39) |
missense |
probably damaging |
1.00 |
R6838:Vldlr
|
UTSW |
19 |
27,225,370 (GRCm39) |
missense |
probably damaging |
1.00 |
R7169:Vldlr
|
UTSW |
19 |
27,221,728 (GRCm39) |
missense |
probably benign |
|
R7197:Vldlr
|
UTSW |
19 |
27,212,241 (GRCm39) |
missense |
probably benign |
0.36 |
R7304:Vldlr
|
UTSW |
19 |
27,216,004 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7403:Vldlr
|
UTSW |
19 |
27,213,674 (GRCm39) |
nonsense |
probably null |
|
R7658:Vldlr
|
UTSW |
19 |
27,220,536 (GRCm39) |
missense |
probably benign |
0.33 |
R7754:Vldlr
|
UTSW |
19 |
27,195,015 (GRCm39) |
start codon destroyed |
probably benign |
0.01 |
R8105:Vldlr
|
UTSW |
19 |
27,216,204 (GRCm39) |
nonsense |
probably null |
|
R8377:Vldlr
|
UTSW |
19 |
27,212,258 (GRCm39) |
missense |
probably damaging |
1.00 |
R8529:Vldlr
|
UTSW |
19 |
27,207,656 (GRCm39) |
missense |
probably benign |
0.03 |
R8777:Vldlr
|
UTSW |
19 |
27,217,946 (GRCm39) |
missense |
probably benign |
0.00 |
R8777-TAIL:Vldlr
|
UTSW |
19 |
27,217,946 (GRCm39) |
missense |
probably benign |
0.00 |
R9380:Vldlr
|
UTSW |
19 |
27,216,192 (GRCm39) |
missense |
possibly damaging |
0.63 |
R9400:Vldlr
|
UTSW |
19 |
27,216,175 (GRCm39) |
missense |
probably damaging |
0.99 |
R9483:Vldlr
|
UTSW |
19 |
27,224,031 (GRCm39) |
missense |
probably benign |
0.00 |
R9502:Vldlr
|
UTSW |
19 |
27,218,742 (GRCm39) |
missense |
probably damaging |
1.00 |
R9509:Vldlr
|
UTSW |
19 |
27,221,687 (GRCm39) |
missense |
probably benign |
0.44 |
R9630:Vldlr
|
UTSW |
19 |
27,207,623 (GRCm39) |
missense |
probably damaging |
1.00 |
R9767:Vldlr
|
UTSW |
19 |
27,212,274 (GRCm39) |
missense |
probably damaging |
1.00 |
R9768:Vldlr
|
UTSW |
19 |
27,218,720 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
Posted On |
2013-10-07 |