Incidental Mutation 'R0624:Vldlr'
| ID |
58853 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vldlr
|
| Ensembl Gene |
ENSMUSG00000024924 |
| Gene Name |
very low density lipoprotein receptor |
| Synonyms |
|
| MMRRC Submission |
038813-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.285)
|
| Stock # |
R0624 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
27193884-27231631 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 27215663 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 220
(D220G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127329
(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: D220G
PolyPhen 2
Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000025866
Gene: ENSMUSG00000024924
AA Change: D220G
| 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: D179G
PolyPhen 2
Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000049145
Gene: ENSMUSG00000024924
AA Change: D179G
| 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: D220G
PolyPhen 2
Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000127329
Gene: ENSMUSG00000024924
AA Change: D220G
| 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: D220G
PolyPhen 2
Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000126730
Gene: ENSMUSG00000024924
AA Change: D220G
| 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 |
0.7990 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.2%
|
| Validation Efficiency |
98% (88/90) |
| 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: 88 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
A |
11: 110,030,446 (GRCm39) |
D767V |
probably damaging |
Het |
| Add1 |
T |
A |
5: 34,763,197 (GRCm39) |
N128K |
probably damaging |
Het |
| Ado |
A |
T |
10: 67,384,058 (GRCm39) |
D182E |
probably benign |
Het |
| Anapc4 |
T |
A |
5: 53,002,761 (GRCm39) |
|
probably benign |
Het |
| Ano10 |
A |
G |
9: 122,088,661 (GRCm39) |
|
probably benign |
Het |
| Apba2 |
A |
G |
7: 64,364,263 (GRCm39) |
|
probably null |
Het |
| Apc2 |
A |
G |
10: 80,150,417 (GRCm39) |
T1795A |
probably benign |
Het |
| Atp4a |
A |
G |
7: 30,418,424 (GRCm39) |
N571D |
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,887,344 (GRCm39) |
N891D |
probably benign |
Het |
| Bltp2 |
G |
A |
11: 78,159,283 (GRCm39) |
E494K |
probably damaging |
Het |
| Car3 |
G |
T |
3: 14,931,864 (GRCm39) |
M78I |
probably benign |
Het |
| Cc2d2a |
A |
T |
5: 43,887,371 (GRCm39) |
H1267L |
probably benign |
Het |
| Cdk18 |
A |
G |
1: 132,046,610 (GRCm39) |
L192P |
probably damaging |
Het |
| Cdk9 |
A |
T |
2: 32,599,836 (GRCm39) |
Y134N |
probably damaging |
Het |
| Ceacam5 |
A |
T |
7: 17,448,888 (GRCm39) |
T85S |
probably benign |
Het |
| Cenpe |
A |
G |
3: 134,952,347 (GRCm39) |
T1403A |
probably benign |
Het |
| Chd8 |
C |
T |
14: 52,457,214 (GRCm39) |
G918D |
possibly damaging |
Het |
| Csnk1e |
T |
A |
15: 79,304,098 (GRCm39) |
|
probably benign |
Het |
| Dctpp1 |
A |
T |
7: 126,856,365 (GRCm39) |
I119N |
probably damaging |
Het |
| Defb34 |
T |
A |
8: 19,173,784 (GRCm39) |
F6Y |
unknown |
Het |
| Dnai4 |
T |
C |
4: 102,930,054 (GRCm39) |
|
probably benign |
Het |
| Dvl1 |
C |
G |
4: 155,939,232 (GRCm39) |
N248K |
probably damaging |
Het |
| Dync1h1 |
T |
C |
12: 110,618,181 (GRCm39) |
|
probably benign |
Het |
| Dync2i1 |
T |
C |
12: 116,211,910 (GRCm39) |
D199G |
probably damaging |
Het |
| Eml5 |
T |
A |
12: 98,831,738 (GRCm39) |
R407W |
probably damaging |
Het |
| Epb41l5 |
T |
C |
1: 119,551,688 (GRCm39) |
D99G |
probably damaging |
Het |
| Fat1 |
A |
T |
8: 45,504,205 (GRCm39) |
N4566I |
possibly damaging |
Het |
| Gm21834 |
T |
C |
17: 58,049,015 (GRCm39) |
E67G |
possibly damaging |
Het |
| Gsap |
T |
A |
5: 21,458,949 (GRCm39) |
|
probably null |
Het |
| Guf1 |
T |
C |
5: 69,715,923 (GRCm39) |
I108T |
probably damaging |
Het |
| Hsd3b5 |
T |
C |
3: 98,526,720 (GRCm39) |
D242G |
probably damaging |
Het |
| Kcna7 |
A |
G |
7: 45,059,114 (GRCm39) |
D467G |
probably null |
Het |
| Lars1 |
A |
G |
18: 42,375,849 (GRCm39) |
|
probably benign |
Het |
| Lrrc56 |
A |
T |
7: 140,786,366 (GRCm39) |
D248V |
probably damaging |
Het |
| Map3k14 |
T |
A |
11: 103,133,117 (GRCm39) |
E27V |
possibly damaging |
Het |
| Med12l |
G |
A |
3: 58,945,123 (GRCm39) |
W116* |
probably null |
Het |
| Mgll |
A |
G |
6: 88,702,799 (GRCm39) |
R33G |
probably damaging |
Het |
| Mmp13 |
A |
G |
9: 7,280,221 (GRCm39) |
S384G |
possibly damaging |
Het |
| Nalcn |
C |
T |
14: 123,607,444 (GRCm39) |
C675Y |
probably benign |
Het |
| Nrxn1 |
A |
G |
17: 91,396,117 (GRCm39) |
L13P |
unknown |
Het |
| Ocstamp |
A |
G |
2: 165,239,772 (GRCm39) |
V138A |
probably damaging |
Het |
| Or12e8 |
T |
G |
2: 87,188,026 (GRCm39) |
Y79* |
probably null |
Het |
| Or2z8 |
T |
A |
8: 72,812,006 (GRCm39) |
S161T |
possibly damaging |
Het |
| Or4a68 |
A |
G |
2: 89,270,482 (GRCm39) |
V47A |
possibly damaging |
Het |
| Or4f7 |
T |
C |
2: 111,645,056 (GRCm39) |
N5S |
probably damaging |
Het |
| Or5p51 |
A |
G |
7: 107,444,323 (GRCm39) |
S206P |
possibly damaging |
Het |
| Or9i1b |
T |
G |
19: 13,896,808 (GRCm39) |
C141W |
probably damaging |
Het |
| Patj |
T |
C |
4: 98,569,472 (GRCm39) |
|
probably benign |
Het |
| Pcdhb22 |
A |
G |
18: 37,651,780 (GRCm39) |
I83V |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,719,670 (GRCm39) |
E1269G |
unknown |
Het |
| Plagl2 |
T |
C |
2: 153,077,973 (GRCm39) |
T3A |
probably benign |
Het |
| Plcb1 |
C |
T |
2: 135,136,831 (GRCm39) |
P309S |
possibly damaging |
Het |
| Pld3 |
A |
T |
7: 27,239,000 (GRCm39) |
L175Q |
possibly damaging |
Het |
| Prrx1 |
A |
G |
1: 163,075,974 (GRCm39) |
|
probably benign |
Het |
| Psap |
T |
G |
10: 60,135,345 (GRCm39) |
|
probably benign |
Het |
| Ptgfr |
G |
A |
3: 151,540,839 (GRCm39) |
T223M |
probably damaging |
Het |
| Reep2 |
A |
T |
18: 34,973,824 (GRCm39) |
I6F |
probably benign |
Het |
| Rraga |
A |
G |
4: 86,494,454 (GRCm39) |
E100G |
probably benign |
Het |
| Rrm2b |
T |
C |
15: 37,931,889 (GRCm39) |
D37G |
probably benign |
Het |
| Rtl1 |
T |
C |
12: 109,559,153 (GRCm39) |
I895M |
probably damaging |
Het |
| Ryr1 |
G |
A |
7: 28,774,034 (GRCm39) |
A2445V |
probably damaging |
Het |
| Sbf1 |
C |
T |
15: 89,186,532 (GRCm39) |
D898N |
possibly damaging |
Het |
| Sh3d19 |
G |
A |
3: 86,022,213 (GRCm39) |
V548I |
possibly damaging |
Het |
| Shf |
C |
A |
2: 122,199,116 (GRCm39) |
|
probably benign |
Het |
| Sipa1l3 |
T |
C |
7: 29,086,676 (GRCm39) |
E638G |
probably damaging |
Het |
| Slc13a3 |
G |
T |
2: 165,253,807 (GRCm39) |
P449T |
probably damaging |
Het |
| Slc2a13 |
C |
T |
15: 91,234,215 (GRCm39) |
V374I |
possibly damaging |
Het |
| Slc4a7 |
T |
C |
14: 14,794,059 (GRCm38) |
|
probably null |
Het |
| Slc7a2 |
T |
A |
8: 41,361,568 (GRCm39) |
S414T |
probably benign |
Het |
| Slc9c1 |
A |
G |
16: 45,393,719 (GRCm39) |
E554G |
probably benign |
Het |
| Smad2 |
T |
C |
18: 76,433,064 (GRCm39) |
I332T |
probably damaging |
Het |
| Snrnp40 |
C |
T |
4: 130,256,451 (GRCm39) |
P59S |
probably damaging |
Het |
| Sorcs2 |
A |
T |
5: 36,222,777 (GRCm39) |
I154N |
probably damaging |
Het |
| Sort1 |
G |
A |
3: 108,255,946 (GRCm39) |
G631S |
probably damaging |
Het |
| Sox10 |
T |
C |
15: 79,043,586 (GRCm39) |
D149G |
possibly damaging |
Het |
| Spn |
C |
T |
7: 126,735,380 (GRCm39) |
V376M |
possibly damaging |
Het |
| Tacc2 |
A |
G |
7: 130,179,239 (GRCm39) |
D9G |
probably damaging |
Het |
| Tapt1 |
T |
G |
5: 44,334,448 (GRCm39) |
L514F |
possibly damaging |
Het |
| Tcf3 |
A |
G |
10: 80,249,168 (GRCm39) |
L480P |
probably damaging |
Het |
| Tenm4 |
G |
C |
7: 96,423,227 (GRCm39) |
G637A |
probably damaging |
Het |
| Tex14 |
T |
A |
11: 87,411,525 (GRCm39) |
N950K |
probably benign |
Het |
| Tgfbrap1 |
T |
G |
1: 43,098,289 (GRCm39) |
H497P |
probably benign |
Het |
| Tnfrsf18 |
A |
T |
4: 156,110,986 (GRCm39) |
Y48F |
possibly damaging |
Het |
| Tnxb |
A |
C |
17: 34,902,522 (GRCm39) |
H1002P |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,593,571 (GRCm39) |
|
probably benign |
Het |
| Ugt2b34 |
C |
G |
5: 87,041,591 (GRCm39) |
|
probably null |
Het |
| Vmn1r33 |
A |
T |
6: 66,589,121 (GRCm39) |
Y144* |
probably null |
Het |
| Xrcc4 |
T |
C |
13: 90,140,594 (GRCm39) |
E205G |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAATGGGCATCCTCCCTCTAACAG -3'
(R):5'- TTACGGCAGTTGACCTCATCGC -3'
Sequencing Primer
(F):5'- CAGGCAACATAACATGTAGTGC -3'
(R):5'- TGACCTCATCGCTGCCG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation