Incidental Mutation 'R4765:Vldlr'
| ID |
366108 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vldlr
|
| Ensembl Gene |
ENSMUSG00000024924 |
| Gene Name |
very low density lipoprotein receptor |
| Synonyms |
|
| MMRRC Submission |
042406-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.250)
|
| Stock # |
R4765 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
27193884-27231631 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 27217947 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 465
(V465A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126730
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025866]
[ENSMUST00000047645]
[ENSMUST00000165761]
[ENSMUST00000167487]
[ENSMUST00000172302]
|
| AlphaFold |
P98156 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025866
AA Change: V465A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000025866
Gene: ENSMUSG00000024924
AA Change: V465A
| 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: V424A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000049145
Gene: ENSMUSG00000024924
AA Change: V424A
| 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: V92A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000130382
Gene: ENSMUSG00000024924
AA Change: V92A
| 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: V465A
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000127329
Gene: ENSMUSG00000024924
AA Change: V465A
| 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: V465A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126730
Gene: ENSMUSG00000024924
AA Change: V465A
| 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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.0%
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
C |
T |
11: 58,771,987 (GRCm39) |
R490C |
probably benign |
Het |
| Abcb11 |
A |
T |
2: 69,076,211 (GRCm39) |
F1166I |
probably damaging |
Het |
| Acta2 |
T |
C |
19: 34,223,552 (GRCm39) |
D181G |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,255,038 (GRCm39) |
I6195T |
probably damaging |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Ankfy1 |
T |
G |
11: 72,603,117 (GRCm39) |
S49A |
probably benign |
Het |
| Azi2 |
A |
T |
9: 117,890,539 (GRCm39) |
|
probably benign |
Het |
| Bend3 |
A |
T |
10: 43,386,746 (GRCm39) |
S380C |
probably damaging |
Het |
| Bicc1 |
T |
C |
10: 70,776,423 (GRCm39) |
T759A |
probably damaging |
Het |
| Cdh10 |
G |
T |
15: 19,013,364 (GRCm39) |
V655L |
probably damaging |
Het |
| Cdkn2aip |
C |
A |
8: 48,166,582 (GRCm39) |
W75L |
probably damaging |
Het |
| Cenpj |
G |
A |
14: 56,787,002 (GRCm39) |
R192* |
probably null |
Het |
| Cflar |
T |
C |
1: 58,771,480 (GRCm39) |
S203P |
probably damaging |
Het |
| Chd6 |
A |
T |
2: 160,808,164 (GRCm39) |
C1683* |
probably null |
Het |
| Cpsf2 |
A |
G |
12: 101,963,699 (GRCm39) |
Y476C |
probably damaging |
Het |
| Cyp4a12a |
A |
G |
4: 115,183,388 (GRCm39) |
D169G |
possibly damaging |
Het |
| D430041D05Rik |
T |
A |
2: 104,044,441 (GRCm39) |
R1536S |
probably damaging |
Het |
| Depdc5 |
A |
C |
5: 33,094,979 (GRCm39) |
D752A |
probably damaging |
Het |
| Dnah9 |
C |
T |
11: 65,818,552 (GRCm39) |
G78D |
probably damaging |
Het |
| Drc1 |
G |
T |
5: 30,506,075 (GRCm39) |
Q249H |
probably benign |
Het |
| Drg1 |
T |
C |
11: 3,200,280 (GRCm39) |
I364V |
probably benign |
Het |
| Dtymk |
T |
C |
1: 93,720,631 (GRCm39) |
H130R |
probably damaging |
Het |
| Elac2 |
T |
G |
11: 64,883,048 (GRCm39) |
F140V |
probably damaging |
Het |
| Enpp2 |
A |
G |
15: 54,739,068 (GRCm39) |
V353A |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,172,013 (GRCm39) |
D2900G |
probably damaging |
Het |
| Fermt2 |
G |
T |
14: 45,699,693 (GRCm39) |
T536K |
probably benign |
Het |
| Foxj2 |
G |
T |
6: 122,810,230 (GRCm39) |
Q196H |
probably benign |
Het |
| Gadl1 |
A |
G |
9: 115,795,381 (GRCm39) |
K328R |
probably null |
Het |
| Gata6 |
A |
G |
18: 11,054,394 (GRCm39) |
T108A |
probably benign |
Het |
| Gm16503 |
G |
T |
4: 147,625,554 (GRCm39) |
G16V |
unknown |
Het |
| Gpr37 |
T |
G |
6: 25,669,107 (GRCm39) |
E579A |
probably damaging |
Het |
| Gps2 |
T |
C |
11: 69,807,187 (GRCm39) |
|
probably benign |
Het |
| Hcn4 |
A |
T |
9: 58,765,260 (GRCm39) |
I581F |
unknown |
Het |
| Hfm1 |
T |
A |
5: 106,990,405 (GRCm39) |
Y1335F |
probably benign |
Het |
| Igsf10 |
A |
T |
3: 59,237,126 (GRCm39) |
S1018R |
probably benign |
Het |
| Katnal2 |
C |
T |
18: 77,065,239 (GRCm39) |
|
probably null |
Het |
| Kctd8 |
T |
C |
5: 69,498,191 (GRCm39) |
K152E |
possibly damaging |
Het |
| Lrp8 |
T |
C |
4: 107,711,592 (GRCm39) |
C459R |
probably damaging |
Het |
| Ly6l |
A |
T |
15: 75,321,543 (GRCm39) |
I48L |
probably benign |
Het |
| Megf10 |
A |
T |
18: 57,420,866 (GRCm39) |
I835F |
possibly damaging |
Het |
| Mei1 |
A |
T |
15: 81,996,686 (GRCm39) |
I946F |
possibly damaging |
Het |
| Mrtfb |
C |
A |
16: 13,230,458 (GRCm39) |
P1048T |
probably damaging |
Het |
| Myo7b |
G |
C |
18: 32,094,953 (GRCm39) |
L1881V |
probably benign |
Het |
| Nfkbiz |
T |
C |
16: 55,639,387 (GRCm39) |
|
probably null |
Het |
| Or4b13 |
T |
A |
2: 90,082,807 (GRCm39) |
Y175F |
probably damaging |
Het |
| Or5b24 |
T |
C |
19: 12,912,440 (GRCm39) |
C113R |
possibly damaging |
Het |
| Pcdhgc5 |
T |
C |
18: 37,955,122 (GRCm39) |
S799P |
probably benign |
Het |
| Plk4 |
A |
G |
3: 40,756,457 (GRCm39) |
E97G |
probably damaging |
Het |
| Pole2 |
A |
T |
12: 69,268,826 (GRCm39) |
H114Q |
possibly damaging |
Het |
| Rad9a |
C |
A |
19: 4,250,488 (GRCm39) |
V109L |
probably benign |
Het |
| Scn8a |
A |
G |
15: 100,938,352 (GRCm39) |
H1917R |
probably benign |
Het |
| Scyl2 |
C |
T |
10: 89,495,160 (GRCm39) |
V304I |
probably damaging |
Het |
| Serpina3f |
G |
C |
12: 104,185,690 (GRCm39) |
E298D |
probably benign |
Het |
| Shoc2 |
A |
G |
19: 53,976,734 (GRCm39) |
E208G |
probably benign |
Het |
| Sin3a |
G |
A |
9: 57,004,087 (GRCm39) |
V280I |
probably benign |
Het |
| Slc26a2 |
A |
T |
18: 61,332,558 (GRCm39) |
I291N |
probably damaging |
Het |
| Slc4a7 |
T |
G |
14: 14,762,414 (GRCm38) |
D600E |
probably damaging |
Het |
| Slc5a6 |
A |
T |
5: 31,195,427 (GRCm39) |
F430L |
possibly damaging |
Het |
| Snx19 |
A |
C |
9: 30,351,453 (GRCm39) |
Q840H |
probably damaging |
Het |
| Spast |
C |
A |
17: 74,676,211 (GRCm39) |
D340E |
probably damaging |
Het |
| Sprr4 |
G |
A |
3: 92,407,716 (GRCm39) |
P29S |
unknown |
Het |
| Stk11ip |
T |
G |
1: 75,503,799 (GRCm39) |
L239R |
probably damaging |
Het |
| Thoc6 |
A |
G |
17: 23,889,862 (GRCm39) |
L20P |
probably damaging |
Het |
| Tnfrsf8 |
A |
T |
4: 145,023,447 (GRCm39) |
S129T |
probably benign |
Het |
| Tnrc6c |
A |
G |
11: 117,633,753 (GRCm39) |
I1284V |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,602,851 (GRCm39) |
Y16711C |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,541,331 (GRCm39) |
L33885P |
probably damaging |
Het |
| Ubn2 |
T |
A |
6: 38,456,075 (GRCm39) |
C501S |
probably damaging |
Het |
| Ubr1 |
A |
T |
2: 120,793,923 (GRCm39) |
L87* |
probably null |
Het |
| Uhmk1 |
T |
C |
1: 170,027,470 (GRCm39) |
Y320C |
probably damaging |
Het |
| Vmn1r1 |
C |
T |
1: 181,985,471 (GRCm39) |
A65T |
probably benign |
Het |
| Vmn2r25 |
C |
T |
6: 123,800,182 (GRCm39) |
C720Y |
probably damaging |
Het |
| Xrra1 |
T |
C |
7: 99,555,775 (GRCm39) |
Y381H |
probably benign |
Het |
| Zfhx4 |
T |
C |
3: 5,465,212 (GRCm39) |
L1790P |
probably benign |
Het |
| Zscan4d |
T |
A |
7: 10,896,594 (GRCm39) |
M259L |
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 |
|
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 |
|
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'- GGAGGGGTGCCTGGAAATC -3'
(R):5'- AGAAGACCCATGCATACTCCAAT -3'
Sequencing Primer
(F):5'- TCCAGGCTGGATACTACTGAG -3'
(R):5'- TCCTTTCCACAGACCTAATGACAGTG -3'
|
| Posted On |
2015-12-21 |
Incidental Mutation