Incidental Mutation 'R4301:Vldlr'
ID |
322440 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vldlr
|
Ensembl Gene |
ENSMUSG00000024924 |
Gene Name |
very low density lipoprotein receptor |
Synonyms |
|
MMRRC Submission |
041088-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.285)
|
Stock # |
R4301 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
27193884-27231631 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 27215802 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 266
(D266E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127329
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025866]
[ENSMUST00000047645]
[ENSMUST00000164746]
[ENSMUST00000165761]
[ENSMUST00000167487]
[ENSMUST00000172302]
|
AlphaFold |
P98156 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025866
AA Change: D266E
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000025866 Gene: ENSMUSG00000024924 AA Change: D266E
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 |
possibly damaging
Transcript: ENSMUST00000047645
AA Change: D225E
PolyPhen 2
Score 0.474 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000049145 Gene: ENSMUSG00000024924 AA Change: D225E
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 |
probably benign
Transcript: ENSMUST00000165761
|
SMART Domains |
Protein: ENSMUSP00000130382 Gene: ENSMUSG00000024924
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 |
possibly damaging
Transcript: ENSMUST00000167487
AA Change: D266E
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000127329 Gene: ENSMUSG00000024924 AA Change: D266E
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: D266E
PolyPhen 2
Score 0.295 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000126730 Gene: ENSMUSG00000024924 AA Change: D266E
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 |
0.1795 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (43/43) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi3bp |
T |
A |
16: 56,377,266 (GRCm39) |
V95D |
probably damaging |
Het |
Adamtsl2 |
A |
G |
2: 26,977,295 (GRCm39) |
D252G |
probably null |
Het |
Adgra3 |
T |
C |
5: 50,118,420 (GRCm39) |
R1043G |
possibly damaging |
Het |
Atxn7l1 |
A |
G |
12: 33,417,237 (GRCm39) |
D562G |
probably damaging |
Het |
Ccdc70 |
T |
C |
8: 22,463,228 (GRCm39) |
V6A |
possibly damaging |
Het |
Cdc25a |
T |
C |
9: 109,718,810 (GRCm39) |
V337A |
probably benign |
Het |
Chil4 |
G |
A |
3: 106,111,043 (GRCm39) |
P284S |
possibly damaging |
Het |
Crb1 |
A |
G |
1: 139,176,568 (GRCm39) |
S472P |
probably benign |
Het |
Fam193b |
G |
A |
13: 55,690,417 (GRCm39) |
R740* |
probably null |
Het |
Fer |
G |
T |
17: 64,385,905 (GRCm39) |
L292F |
probably damaging |
Het |
Gmppa |
G |
A |
1: 75,419,140 (GRCm39) |
R349H |
possibly damaging |
Het |
Hspa1a |
T |
C |
17: 35,189,482 (GRCm39) |
I474V |
probably benign |
Het |
Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
Lrrc30 |
A |
G |
17: 67,939,563 (GRCm39) |
S6P |
probably damaging |
Het |
Lzts3 |
A |
G |
2: 130,478,358 (GRCm39) |
S133P |
probably damaging |
Het |
Mrtfb |
T |
C |
16: 13,216,169 (GRCm39) |
Y294H |
probably damaging |
Het |
Mtmr12 |
T |
A |
15: 12,236,106 (GRCm39) |
F122I |
possibly damaging |
Het |
Mypn |
A |
G |
10: 62,954,263 (GRCm39) |
Y124H |
probably damaging |
Het |
Nfat5 |
T |
C |
8: 108,082,327 (GRCm39) |
|
probably benign |
Het |
Npr2 |
T |
C |
4: 43,641,332 (GRCm39) |
|
probably null |
Het |
Or5a3 |
T |
C |
19: 12,400,081 (GRCm39) |
L136P |
probably damaging |
Het |
Pgm2 |
G |
A |
5: 64,261,140 (GRCm39) |
W51* |
probably null |
Het |
Phip |
G |
A |
9: 82,841,766 (GRCm39) |
R48* |
probably null |
Het |
Piezo2 |
T |
C |
18: 63,217,911 (GRCm39) |
T1075A |
probably damaging |
Het |
Ppat |
G |
T |
5: 77,076,348 (GRCm39) |
|
probably benign |
Het |
Ppp2r2b |
T |
A |
18: 43,031,811 (GRCm39) |
E23D |
probably null |
Het |
Prickle1 |
T |
C |
15: 93,406,517 (GRCm39) |
I169V |
possibly damaging |
Het |
Rab37 |
T |
A |
11: 115,049,390 (GRCm39) |
D95E |
possibly damaging |
Het |
Sash1 |
A |
G |
10: 8,627,234 (GRCm39) |
V50A |
probably benign |
Het |
Siae |
C |
A |
9: 37,545,009 (GRCm39) |
Q335K |
possibly damaging |
Het |
Snx14 |
A |
T |
9: 88,292,676 (GRCm39) |
I217K |
probably damaging |
Het |
Son |
A |
G |
16: 91,455,299 (GRCm39) |
T1349A |
possibly damaging |
Het |
Sptb |
A |
G |
12: 76,659,471 (GRCm39) |
L1143S |
probably damaging |
Het |
Trim80 |
T |
C |
11: 115,335,939 (GRCm39) |
|
probably null |
Het |
Trpm3 |
T |
C |
19: 22,964,656 (GRCm39) |
S1374P |
probably benign |
Het |
Vmn2r79 |
A |
G |
7: 86,651,099 (GRCm39) |
H166R |
possibly damaging |
Het |
Zbtb10 |
A |
T |
3: 9,330,220 (GRCm39) |
Q526L |
probably damaging |
Het |
Zfr2 |
T |
C |
10: 81,078,018 (GRCm39) |
|
probably benign |
Het |
Zswim8 |
G |
A |
14: 20,763,977 (GRCm39) |
R449H |
possibly damaging |
Het |
Zzef1 |
T |
C |
11: 72,779,861 (GRCm39) |
V1878A |
probably damaging |
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 |
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 |
|
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'- AGTGATGAGCTGGACTGTGC -3'
(R):5'- TCAACACAGTCTCGGATGCC -3'
Sequencing Primer
(F):5'- AGTTCCAGTGCAGCACCTC -3'
(R):5'- ACAGTCTCGGATGCCATTGC -3'
|
Posted On |
2015-06-20 |