Incidental Mutation 'R1901:Vldlr'
| ID |
212277 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vldlr
|
| Ensembl Gene |
ENSMUSG00000024924 |
| Gene Name |
very low density lipoprotein receptor |
| Synonyms |
|
| MMRRC Submission |
039921-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.285)
|
| Stock # |
R1901 (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 27218709 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 147
(V147A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130382
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025866]
[ENSMUST00000047645]
[ENSMUST00000165761]
[ENSMUST00000167487]
[ENSMUST00000172302]
|
| AlphaFold |
P98156 |
| Predicted Effect |
silent
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: V479A
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000049145
Gene: ENSMUSG00000024924
AA Change: V479A
| 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: V147A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000130382
Gene: ENSMUSG00000024924
AA Change: V147A
| 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: V520A
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000127329
Gene: ENSMUSG00000024924
AA Change: V520A
| 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: V520A
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000126730
Gene: ENSMUSG00000024924
AA Change: V520A
| 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: 97.3%
- 3x: 96.8%
- 10x: 95.2%
- 20x: 92.5%
|
| 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: 94 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
A |
G |
7: 119,945,322 (GRCm39) |
E466G |
probably damaging |
Het |
| Acacb |
A |
T |
5: 114,303,795 (GRCm39) |
R73* |
probably null |
Het |
| Acta1 |
A |
T |
8: 124,619,900 (GRCm39) |
S147T |
probably benign |
Het |
| Adh1 |
G |
A |
3: 137,994,558 (GRCm39) |
V293I |
probably benign |
Het |
| Aldh3b3 |
T |
C |
19: 4,015,130 (GRCm39) |
Y170H |
probably damaging |
Het |
| Ank3 |
A |
T |
10: 69,658,167 (GRCm39) |
T198S |
probably damaging |
Het |
| Ankrd12 |
A |
T |
17: 66,293,698 (GRCm39) |
N578K |
possibly damaging |
Het |
| Ano2 |
A |
T |
6: 125,849,647 (GRCm39) |
E126D |
probably damaging |
Het |
| Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
| Arhgef7 |
C |
A |
8: 11,858,713 (GRCm39) |
|
probably null |
Het |
| Cfap44 |
A |
C |
16: 44,242,737 (GRCm39) |
T714P |
probably benign |
Het |
| Cnot1 |
T |
C |
8: 96,469,749 (GRCm39) |
I1369V |
possibly damaging |
Het |
| Col19a1 |
A |
T |
1: 24,576,078 (GRCm39) |
I88K |
unknown |
Het |
| Col1a1 |
G |
A |
11: 94,837,458 (GRCm39) |
|
probably null |
Het |
| Col5a1 |
A |
G |
2: 27,850,456 (GRCm39) |
T518A |
unknown |
Het |
| Cul7 |
T |
C |
17: 46,966,666 (GRCm39) |
L365P |
probably damaging |
Het |
| Dlec1 |
T |
C |
9: 118,931,712 (GRCm39) |
S44P |
probably damaging |
Het |
| Dock9 |
T |
C |
14: 121,862,565 (GRCm39) |
|
probably null |
Het |
| Fbxl9 |
T |
C |
8: 106,039,707 (GRCm39) |
N556S |
probably damaging |
Het |
| Flrt2 |
C |
A |
12: 95,745,904 (GRCm39) |
P81T |
probably damaging |
Het |
| Flrt2 |
C |
T |
12: 95,745,905 (GRCm39) |
P81L |
probably damaging |
Het |
| Ginm1 |
A |
G |
10: 7,650,980 (GRCm39) |
|
probably null |
Het |
| Glis3 |
T |
C |
19: 28,508,985 (GRCm39) |
N333S |
probably damaging |
Het |
| Glo1 |
T |
G |
17: 30,815,382 (GRCm39) |
E144D |
probably benign |
Het |
| Golga1 |
A |
T |
2: 38,937,792 (GRCm39) |
|
probably null |
Het |
| H2-Aa |
A |
G |
17: 34,502,207 (GRCm39) |
I155T |
possibly damaging |
Het |
| Haus5 |
A |
G |
7: 30,356,670 (GRCm39) |
S479P |
probably damaging |
Het |
| Il10ra |
A |
T |
9: 45,167,654 (GRCm39) |
V299D |
probably benign |
Het |
| Il17re |
T |
C |
6: 113,446,665 (GRCm39) |
V472A |
probably damaging |
Het |
| Il22ra1 |
A |
T |
4: 135,478,219 (GRCm39) |
Q430L |
probably damaging |
Het |
| Il23r |
A |
C |
6: 67,400,718 (GRCm39) |
D537E |
probably benign |
Het |
| Inppl1 |
T |
C |
7: 101,472,584 (GRCm39) |
E1237G |
possibly damaging |
Het |
| Ip6k1 |
G |
A |
9: 107,918,195 (GRCm39) |
E77K |
possibly damaging |
Het |
| Klhl35 |
T |
C |
7: 99,119,427 (GRCm39) |
L304P |
probably damaging |
Het |
| Krt78 |
A |
T |
15: 101,855,398 (GRCm39) |
C804* |
probably null |
Het |
| Med15 |
G |
T |
16: 17,491,018 (GRCm39) |
|
probably benign |
Het |
| Mettl25 |
A |
G |
10: 105,661,948 (GRCm39) |
S341P |
probably damaging |
Het |
| Mroh1 |
A |
G |
15: 76,320,249 (GRCm39) |
T1008A |
probably benign |
Het |
| Mug1 |
A |
G |
6: 121,858,780 (GRCm39) |
D1166G |
probably benign |
Het |
| Mug2 |
C |
A |
6: 122,048,801 (GRCm39) |
H856N |
probably benign |
Het |
| Naca |
T |
A |
10: 127,879,590 (GRCm39) |
|
probably benign |
Het |
| Nagk |
G |
T |
6: 83,776,336 (GRCm39) |
V184F |
probably damaging |
Het |
| Nav1 |
T |
G |
1: 135,400,148 (GRCm39) |
N474T |
probably benign |
Het |
| Ncor2 |
T |
A |
5: 125,102,489 (GRCm39) |
H2089L |
probably benign |
Het |
| Nek6 |
A |
G |
2: 38,472,458 (GRCm39) |
I261V |
probably damaging |
Het |
| Neurod2 |
G |
A |
11: 98,218,558 (GRCm39) |
T202M |
probably damaging |
Het |
| Nlgn2 |
A |
G |
11: 69,716,726 (GRCm39) |
V605A |
probably damaging |
Het |
| Nlrp5 |
A |
C |
7: 23,123,335 (GRCm39) |
E732A |
possibly damaging |
Het |
| Nt5dc1 |
A |
T |
10: 34,189,667 (GRCm39) |
V340D |
probably damaging |
Het |
| Ntn4 |
A |
G |
10: 93,543,234 (GRCm39) |
D320G |
possibly damaging |
Het |
| Or10al3 |
T |
A |
17: 38,012,312 (GRCm39) |
H250Q |
probably damaging |
Het |
| Or10x1 |
A |
T |
1: 174,196,734 (GRCm39) |
I84L |
probably benign |
Het |
| Or52l1 |
A |
G |
7: 104,830,079 (GRCm39) |
I162T |
possibly damaging |
Het |
| Or52z15 |
T |
C |
7: 103,332,750 (GRCm39) |
I265T |
probably damaging |
Het |
| Or5ac25 |
A |
T |
16: 59,182,526 (GRCm39) |
D18E |
probably benign |
Het |
| Osbpl5 |
T |
C |
7: 143,256,918 (GRCm39) |
D404G |
possibly damaging |
Het |
| Pcdhb12 |
T |
A |
18: 37,570,683 (GRCm39) |
W610R |
possibly damaging |
Het |
| Pias2 |
T |
A |
18: 77,185,139 (GRCm39) |
C66* |
probably null |
Het |
| Plec |
T |
A |
15: 76,059,751 (GRCm39) |
E3417D |
probably damaging |
Het |
| Plekhm3 |
CCTGCTGCTGCTGCTGCTGCTGCTGC |
CCTGCTGCTGCTGCTGCTGCTGC |
1: 64,976,940 (GRCm39) |
|
probably benign |
Het |
| Ppp1r12a |
T |
A |
10: 108,034,752 (GRCm39) |
I99N |
probably damaging |
Het |
| Prpf8 |
T |
G |
11: 75,395,570 (GRCm39) |
V1899G |
probably damaging |
Het |
| Prr13 |
C |
A |
15: 102,369,133 (GRCm39) |
|
probably benign |
Het |
| Ptchd4 |
A |
T |
17: 42,814,507 (GRCm39) |
I803L |
probably benign |
Het |
| R3hdm2 |
T |
C |
10: 127,334,337 (GRCm39) |
I947T |
possibly damaging |
Het |
| Raet1d |
A |
G |
10: 22,247,350 (GRCm39) |
D142G |
probably damaging |
Het |
| Rbbp8nl |
C |
T |
2: 179,925,106 (GRCm39) |
R33Q |
probably damaging |
Het |
| Robo1 |
A |
G |
16: 72,757,092 (GRCm39) |
Q351R |
probably null |
Het |
| Rptn |
A |
T |
3: 93,304,017 (GRCm39) |
H450L |
possibly damaging |
Het |
| Scn11a |
T |
A |
9: 119,608,102 (GRCm39) |
K1010* |
probably null |
Het |
| Slc16a10 |
G |
A |
10: 39,932,602 (GRCm39) |
Q33* |
probably null |
Het |
| Slc31a1 |
C |
T |
4: 62,303,842 (GRCm39) |
|
probably benign |
Het |
| Slc34a1 |
A |
T |
13: 55,548,963 (GRCm39) |
K138* |
probably null |
Het |
| Slc6a18 |
T |
A |
13: 73,818,162 (GRCm39) |
E285V |
probably benign |
Het |
| Slco6c1 |
T |
A |
1: 97,000,707 (GRCm39) |
T515S |
probably damaging |
Het |
| Snrnp40 |
T |
A |
4: 130,279,768 (GRCm39) |
S295T |
probably damaging |
Het |
| Snx4 |
A |
T |
16: 33,104,808 (GRCm39) |
Y252F |
possibly damaging |
Het |
| Spata18 |
T |
A |
5: 73,828,482 (GRCm39) |
F348I |
probably damaging |
Het |
| Spef2 |
G |
T |
15: 9,607,463 (GRCm39) |
R1319S |
probably damaging |
Het |
| Tas2r125 |
T |
C |
6: 132,887,139 (GRCm39) |
F176L |
probably benign |
Het |
| Tcp10b |
A |
G |
17: 13,300,513 (GRCm39) |
K399E |
possibly damaging |
Het |
| Tcstv3 |
A |
G |
13: 120,779,260 (GRCm39) |
H53R |
probably damaging |
Het |
| Tnrc6c |
A |
G |
11: 117,613,831 (GRCm39) |
K823R |
probably damaging |
Het |
| Trim31 |
A |
G |
17: 37,212,692 (GRCm39) |
E221G |
probably benign |
Het |
| Trim47 |
T |
A |
11: 115,998,605 (GRCm39) |
Q338L |
probably damaging |
Het |
| Tubgcp6 |
C |
A |
15: 89,000,444 (GRCm39) |
R307L |
possibly damaging |
Het |
| Usp9y |
A |
G |
Y: 1,303,371 (GRCm39) |
|
probably null |
Het |
| Utp20 |
G |
T |
10: 88,588,888 (GRCm39) |
T2427K |
probably benign |
Het |
| Vmn1r115 |
C |
T |
7: 20,578,198 (GRCm39) |
R238H |
probably benign |
Het |
| Vmn1r175 |
C |
A |
7: 23,508,218 (GRCm39) |
R136S |
probably benign |
Het |
| Vmn1r53 |
A |
G |
6: 90,201,268 (GRCm39) |
S19P |
possibly damaging |
Het |
| Vwa5b2 |
G |
T |
16: 20,423,582 (GRCm39) |
S1165I |
possibly damaging |
Het |
| Zfp362 |
G |
T |
4: 128,684,069 (GRCm39) |
P13T |
probably damaging |
Het |
| Zfp825 |
A |
G |
13: 74,629,064 (GRCm39) |
C151R |
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 |
|
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'- GCTGAATAATTTCTGTGCTGAGC -3'
(R):5'- TCAACCTCTGTGGCTTGCAC -3'
Sequencing Primer
(F):5'- CCTAGAGTCTTTTCAGAGTAAAGTCC -3'
(R):5'- TCTGTGGCTTGCACCCAAAAAG -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation