Incidental Mutation 'R1017:Vldlr'
ID |
96520 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vldlr
|
Ensembl Gene |
ENSMUSG00000024924 |
Gene Name |
very low density lipoprotein receptor |
Synonyms |
|
MMRRC Submission |
039121-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.250)
|
Stock # |
R1017 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
27193884-27231631 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 27218733 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Serine
at position 528
(Y528S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126730
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025866]
[ENSMUST00000047645]
[ENSMUST00000165761]
[ENSMUST00000167487]
[ENSMUST00000172302]
|
AlphaFold |
P98156 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025866
|
SMART Domains |
Protein: ENSMUSP00000025866 Gene: ENSMUSG00000024924
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 damaging
Transcript: ENSMUST00000047645
AA Change: Y487S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000049145 Gene: ENSMUSG00000024924 AA Change: Y487S
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 damaging
Transcript: ENSMUST00000165761
AA Change: Y155S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000130382 Gene: ENSMUSG00000024924 AA Change: Y155S
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 damaging
Transcript: ENSMUST00000167487
AA Change: Y528S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000127329 Gene: ENSMUSG00000024924 AA Change: Y528S
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 damaging
Transcript: ENSMUST00000172302
AA Change: Y528S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000126730 Gene: ENSMUSG00000024924 AA Change: Y528S
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 |
|
Meta Mutation Damage Score |
0.9713 |
Coding Region Coverage |
- 1x: 99.7%
- 3x: 98.8%
- 10x: 96.8%
- 20x: 93.4%
|
Validation Efficiency |
98% (47/48) |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acrbp |
C |
T |
6: 125,038,223 (GRCm39) |
|
probably benign |
Het |
Ahnak |
A |
T |
19: 8,987,907 (GRCm39) |
I3064F |
probably damaging |
Het |
Arhgef10l |
C |
A |
4: 140,242,617 (GRCm39) |
R884L |
probably damaging |
Het |
Baiap2l2 |
A |
G |
15: 79,145,443 (GRCm39) |
F317L |
probably benign |
Het |
Brinp2 |
A |
T |
1: 158,077,021 (GRCm39) |
I358N |
probably damaging |
Het |
Ccin |
A |
G |
4: 43,985,222 (GRCm39) |
D543G |
probably benign |
Het |
Cdh23 |
T |
A |
10: 60,167,572 (GRCm39) |
D1806V |
probably damaging |
Het |
Cdh6 |
C |
T |
15: 13,051,562 (GRCm39) |
R357Q |
probably benign |
Het |
Cpa3 |
T |
C |
3: 20,293,797 (GRCm39) |
M64V |
possibly damaging |
Het |
Ctnnb1 |
T |
A |
9: 120,779,794 (GRCm39) |
F74I |
probably damaging |
Het |
Cyp7a1 |
A |
T |
4: 6,272,307 (GRCm39) |
I302N |
probably damaging |
Het |
Dnase1l2 |
C |
T |
17: 24,661,446 (GRCm39) |
A56T |
probably benign |
Het |
Dscam |
T |
A |
16: 96,634,633 (GRCm39) |
D190V |
probably damaging |
Het |
Fer1l4 |
T |
C |
2: 155,891,398 (GRCm39) |
|
probably null |
Het |
Fscb |
T |
A |
12: 64,520,242 (GRCm39) |
D408V |
probably benign |
Het |
Gm10306 |
A |
G |
4: 94,444,957 (GRCm39) |
|
probably benign |
Het |
Gon4l |
T |
A |
3: 88,765,803 (GRCm39) |
M409K |
probably benign |
Het |
Gsx2 |
T |
C |
5: 75,237,923 (GRCm39) |
S292P |
probably damaging |
Het |
Hira |
T |
A |
16: 18,718,097 (GRCm39) |
|
probably null |
Het |
Hoxa3 |
G |
T |
6: 52,149,386 (GRCm39) |
|
probably null |
Het |
Irak3 |
T |
C |
10: 119,978,789 (GRCm39) |
E554G |
possibly damaging |
Het |
Itgb3bp |
A |
G |
4: 99,657,724 (GRCm39) |
|
probably benign |
Het |
Kifc3 |
C |
T |
8: 95,832,413 (GRCm39) |
D379N |
probably damaging |
Het |
Lama5 |
A |
G |
2: 179,837,213 (GRCm39) |
V1032A |
probably damaging |
Het |
Lmln |
T |
G |
16: 32,908,546 (GRCm39) |
I324R |
probably benign |
Het |
Ltbp4 |
A |
G |
7: 27,005,501 (GRCm39) |
S1547P |
possibly damaging |
Het |
Mdga1 |
T |
A |
17: 30,069,522 (GRCm39) |
T175S |
probably damaging |
Het |
Mrps6 |
T |
A |
16: 91,855,346 (GRCm39) |
L8* |
probably null |
Het |
Mtmr11 |
A |
C |
3: 96,071,794 (GRCm39) |
T203P |
probably damaging |
Het |
Nat8f7 |
T |
C |
6: 85,684,552 (GRCm39) |
D96G |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,889,179 (GRCm39) |
E7531G |
unknown |
Het |
Or2k2 |
A |
T |
4: 58,785,115 (GRCm39) |
S202R |
probably damaging |
Het |
Or8k25 |
A |
T |
2: 86,243,855 (GRCm39) |
D180E |
probably damaging |
Het |
Or8k27 |
A |
T |
2: 86,275,772 (GRCm39) |
L185I |
probably benign |
Het |
Osbpl6 |
A |
G |
2: 76,380,063 (GRCm39) |
Y69C |
probably damaging |
Het |
Polrmt |
C |
T |
10: 79,579,343 (GRCm39) |
W136* |
probably null |
Het |
Raver1 |
T |
C |
9: 20,990,886 (GRCm39) |
|
probably benign |
Het |
Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
Rsl1d1 |
T |
C |
16: 11,021,116 (GRCm39) |
K2E |
probably benign |
Het |
Sik3 |
C |
T |
9: 46,107,107 (GRCm39) |
T417I |
probably benign |
Het |
Spdl1 |
T |
C |
11: 34,710,117 (GRCm39) |
K388R |
possibly damaging |
Het |
Tulp1 |
T |
C |
17: 28,583,277 (GRCm39) |
R88G |
probably damaging |
Het |
Zdhhc14 |
T |
A |
17: 5,543,924 (GRCm39) |
L68H |
probably damaging |
Het |
Zfp605 |
C |
T |
5: 110,275,860 (GRCm39) |
T326I |
probably benign |
Het |
|
Other mutations in Vldlr |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01346:Vldlr
|
APN |
19 |
27,217,081 (GRCm39) |
missense |
possibly damaging |
0.93 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCAGGGTCCAATGGTGACAAC -3'
(R):5'- ACTGTCCTTGATGTCTTGAACCAGC -3'
Sequencing Primer
(F):5'- GGTCCAATGGTGACAACTTTTAAATC -3'
(R):5'- TGAGAAAAGCTCTCAACCTCTGTG -3'
|
Posted On |
2014-01-05 |