Incidental Mutation 'R5134:Vldlr'
| ID |
396090 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vldlr
|
| Ensembl Gene |
ENSMUSG00000024924 |
| Gene Name |
very low density lipoprotein receptor |
| Synonyms |
|
| MMRRC Submission |
042722-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.285)
|
| Stock # |
R5134 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
27193884-27231631 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 27216212 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 344
(C344*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126730
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025866]
[ENSMUST00000047645]
[ENSMUST00000164746]
[ENSMUST00000165761]
[ENSMUST00000167487]
[ENSMUST00000172302]
|
| AlphaFold |
P98156 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000025866
AA Change: C344*
|
| SMART Domains |
Protein: ENSMUSP00000025866
Gene: ENSMUSG00000024924
AA Change: C344*
| 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 null
Transcript: ENSMUST00000047645
AA Change: C303*
|
| SMART Domains |
Protein: ENSMUSP00000049145
Gene: ENSMUSG00000024924
AA Change: C303*
| 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 null
Transcript: ENSMUST00000165761
AA Change: C13*
|
| SMART Domains |
Protein: ENSMUSP00000130382
Gene: ENSMUSG00000024924
AA Change: C13*
| 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 null
Transcript: ENSMUST00000167487
AA Change: C344*
|
| SMART Domains |
Protein: ENSMUSP00000127329
Gene: ENSMUSG00000024924
AA Change: C344*
| 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 null
Transcript: ENSMUST00000172302
AA Change: C344*
|
| SMART Domains |
Protein: ENSMUSP00000126730
Gene: ENSMUSG00000024924
AA Change: C344*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.5%
|
| Validation Efficiency |
96% (100/104) |
| 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: 89 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adarb1 |
T |
A |
10: 77,161,679 (GRCm39) |
|
probably benign |
Het |
| Adrb3 |
A |
C |
8: 27,717,798 (GRCm39) |
M217R |
probably damaging |
Het |
| Ank2 |
A |
T |
3: 126,757,094 (GRCm39) |
N1054K |
possibly damaging |
Het |
| Aox4 |
A |
T |
1: 58,275,835 (GRCm39) |
D389V |
probably benign |
Het |
| Aph1a |
G |
T |
3: 95,802,843 (GRCm39) |
G148W |
probably damaging |
Het |
| Arsj |
A |
G |
3: 126,231,803 (GRCm39) |
D183G |
probably benign |
Het |
| Atg2b |
A |
G |
12: 105,641,209 (GRCm39) |
S76P |
probably damaging |
Het |
| Atxn7l1 |
C |
A |
12: 33,422,875 (GRCm39) |
N815K |
probably damaging |
Het |
| Cd3d |
A |
T |
9: 44,896,296 (GRCm39) |
E28D |
probably damaging |
Het |
| Cir1 |
G |
A |
2: 73,114,847 (GRCm39) |
R404* |
probably null |
Het |
| Cops8 |
A |
G |
1: 90,538,724 (GRCm39) |
D51G |
probably damaging |
Het |
| Csgalnact1 |
T |
C |
8: 68,913,623 (GRCm39) |
E194G |
probably benign |
Het |
| Cstf2t |
T |
A |
19: 31,061,494 (GRCm39) |
D343E |
probably damaging |
Het |
| Ddx23 |
A |
T |
15: 98,548,651 (GRCm39) |
D352E |
possibly damaging |
Het |
| Dhx34 |
G |
T |
7: 15,952,175 (GRCm39) |
A150D |
possibly damaging |
Het |
| Dnal4 |
A |
T |
15: 79,647,766 (GRCm39) |
V32E |
possibly damaging |
Het |
| Dvl3 |
G |
T |
16: 20,343,357 (GRCm39) |
|
probably benign |
Het |
| Ehmt1 |
G |
T |
2: 24,767,509 (GRCm39) |
P135T |
probably damaging |
Het |
| Enpp2 |
C |
T |
15: 54,762,726 (GRCm39) |
R174H |
probably damaging |
Het |
| Eps15 |
G |
A |
4: 109,223,727 (GRCm39) |
|
probably benign |
Het |
| F10 |
T |
C |
8: 13,105,698 (GRCm39) |
V421A |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fer1l6 |
A |
T |
15: 58,512,003 (GRCm39) |
D1490V |
probably damaging |
Het |
| Fsd1l |
A |
G |
4: 53,647,766 (GRCm39) |
K70E |
probably benign |
Het |
| Galnt12 |
G |
A |
4: 47,113,818 (GRCm39) |
A79T |
probably damaging |
Het |
| Galnt17 |
A |
T |
5: 130,992,873 (GRCm39) |
M347K |
probably damaging |
Het |
| Glyatl3 |
A |
G |
17: 41,215,921 (GRCm39) |
V195A |
probably benign |
Het |
| Gm10770 |
A |
T |
2: 150,021,480 (GRCm39) |
|
probably null |
Het |
| Gm5578 |
A |
T |
6: 112,583,046 (GRCm39) |
|
noncoding transcript |
Het |
| Grn |
C |
A |
11: 102,321,380 (GRCm39) |
|
probably benign |
Het |
| Gsk3b |
G |
A |
16: 38,060,882 (GRCm39) |
R418H |
probably damaging |
Het |
| Hspa12b |
A |
G |
2: 130,981,428 (GRCm39) |
E221G |
possibly damaging |
Het |
| Ighv1-50 |
T |
G |
12: 115,083,653 (GRCm39) |
Q22H |
probably benign |
Het |
| Ipcef1 |
A |
G |
10: 6,869,950 (GRCm39) |
I150T |
probably benign |
Het |
| Ipp |
T |
A |
4: 116,372,654 (GRCm39) |
F228I |
possibly damaging |
Het |
| Itgb7 |
A |
G |
15: 102,125,842 (GRCm39) |
C596R |
probably damaging |
Het |
| Kif27 |
T |
C |
13: 58,438,904 (GRCm39) |
D1219G |
possibly damaging |
Het |
| Lats1 |
T |
A |
10: 7,567,575 (GRCm39) |
D115E |
probably benign |
Het |
| Lpcat3 |
A |
G |
6: 124,679,493 (GRCm39) |
N331S |
probably benign |
Het |
| Lrpprc |
A |
T |
17: 85,058,684 (GRCm39) |
N725K |
probably benign |
Het |
| Lss |
T |
G |
10: 76,382,070 (GRCm39) |
|
probably benign |
Het |
| Mfsd6 |
T |
C |
1: 52,747,515 (GRCm39) |
Y450C |
possibly damaging |
Het |
| Mmp21 |
A |
T |
7: 133,280,742 (GRCm39) |
V76E |
probably benign |
Het |
| Mtmr11 |
A |
T |
3: 96,077,223 (GRCm39) |
Y527F |
probably damaging |
Het |
| Nat10 |
A |
T |
2: 103,573,638 (GRCm39) |
F327I |
probably benign |
Het |
| Nfkbiz |
A |
T |
16: 55,638,863 (GRCm39) |
M199K |
probably damaging |
Het |
| Nuak1 |
A |
G |
10: 84,210,214 (GRCm39) |
Y625H |
probably benign |
Het |
| Odf1 |
A |
G |
15: 38,226,393 (GRCm39) |
T98A |
possibly damaging |
Het |
| Oprl1 |
T |
A |
2: 181,360,403 (GRCm39) |
I153N |
probably damaging |
Het |
| Or10g3b |
T |
C |
14: 52,587,248 (GRCm39) |
N85S |
probably benign |
Het |
| Or1j4 |
A |
T |
2: 36,740,488 (GRCm39) |
L143F |
probably benign |
Het |
| Or4x13 |
T |
A |
2: 90,231,107 (GRCm39) |
M34K |
probably benign |
Het |
| Osbpl8 |
T |
A |
10: 111,124,554 (GRCm39) |
D705E |
probably benign |
Het |
| Otud4 |
G |
A |
8: 80,382,318 (GRCm39) |
V176I |
probably damaging |
Het |
| Paics |
T |
C |
5: 77,104,669 (GRCm39) |
|
probably benign |
Het |
| Pax5 |
A |
G |
4: 44,710,407 (GRCm39) |
M1T |
probably null |
Het |
| Pck1 |
A |
T |
2: 172,995,282 (GRCm39) |
N34I |
probably benign |
Het |
| Pde8b |
T |
C |
13: 95,223,250 (GRCm39) |
I335V |
probably benign |
Het |
| Piezo2 |
A |
G |
18: 63,207,691 (GRCm39) |
V1440A |
probably damaging |
Het |
| Prr23a4 |
T |
C |
9: 98,785,793 (GRCm39) |
S153P |
probably benign |
Het |
| Ptpre |
T |
A |
7: 135,253,821 (GRCm39) |
F83Y |
probably damaging |
Het |
| Pwwp3a |
T |
C |
10: 80,068,702 (GRCm39) |
L282P |
probably benign |
Het |
| Rassf6 |
T |
A |
5: 90,752,225 (GRCm39) |
|
probably null |
Het |
| Rilp |
A |
T |
11: 75,403,534 (GRCm39) |
L325F |
probably damaging |
Het |
| Rpf1 |
A |
G |
3: 146,212,293 (GRCm39) |
L349S |
probably damaging |
Het |
| Rprd2 |
G |
C |
3: 95,672,632 (GRCm39) |
R924G |
probably benign |
Het |
| Rps6kc1 |
T |
A |
1: 190,505,845 (GRCm39) |
D1039V |
probably damaging |
Het |
| Rufy3 |
G |
A |
5: 88,793,426 (GRCm39) |
V579I |
probably benign |
Het |
| Serpinc1 |
A |
G |
1: 160,825,140 (GRCm39) |
|
probably null |
Het |
| Siae |
T |
G |
9: 37,557,816 (GRCm39) |
I541S |
possibly damaging |
Het |
| St14 |
T |
G |
9: 31,006,879 (GRCm39) |
D649A |
probably benign |
Het |
| Stab2 |
A |
G |
10: 86,707,674 (GRCm39) |
|
probably null |
Het |
| Sun3 |
T |
C |
11: 8,988,287 (GRCm39) |
T12A |
probably benign |
Het |
| Tdrd6 |
A |
G |
17: 43,937,101 (GRCm39) |
Y1316H |
probably damaging |
Het |
| Thbs3 |
CAGAAG |
CAG |
3: 89,130,409 (GRCm39) |
|
probably benign |
Het |
| Tmem161b |
C |
A |
13: 84,442,887 (GRCm39) |
T269K |
possibly damaging |
Het |
| Trav14-3 |
T |
A |
14: 54,000,701 (GRCm39) |
S17T |
unknown |
Het |
| Trmu |
T |
A |
15: 85,780,556 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
A |
2: 76,537,586 (GRCm39) |
T26454S |
possibly damaging |
Het |
| Ubr3 |
T |
C |
2: 69,850,790 (GRCm39) |
|
probably benign |
Het |
| Unc5b |
A |
T |
10: 60,610,879 (GRCm39) |
V376E |
probably benign |
Het |
| Usp3 |
T |
C |
9: 66,449,814 (GRCm39) |
S166G |
possibly damaging |
Het |
| Vmn1r17 |
A |
G |
6: 57,337,828 (GRCm39) |
V130A |
probably benign |
Het |
| Wdfy3 |
A |
C |
5: 102,091,969 (GRCm39) |
Y457D |
probably damaging |
Het |
| Zbtb2 |
T |
C |
10: 4,319,267 (GRCm39) |
Y253C |
possibly damaging |
Het |
| Zfp687 |
A |
C |
3: 94,917,697 (GRCm39) |
F692V |
probably damaging |
Het |
| Zfp758 |
A |
G |
17: 22,594,386 (GRCm39) |
K291E |
probably damaging |
Het |
| Zfp799 |
A |
T |
17: 33,039,415 (GRCm39) |
C284S |
probably damaging |
Het |
| Zp1 |
C |
A |
19: 10,897,926 (GRCm39) |
C5F |
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 |
|
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 |
|
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'- GGCTCTGATGAAGTCAACTGC -3'
(R):5'- TGTCATGGGCTAAAATTCCACTTTG -3'
Sequencing Primer
(F):5'- GCAAAAACGGTGAGGTTCTTTCTCC -3'
(R):5'- GGGCTAAAATTCCACTTTGAAATAC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation