Incidental Mutation 'R7658:Vldlr'
| ID |
591407 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vldlr
|
| Ensembl Gene |
ENSMUSG00000024924 |
| Gene Name |
very low density lipoprotein receptor |
| Synonyms |
|
| MMRRC Submission |
045703-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.285)
|
| Stock # |
R7658 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
27193884-27231631 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 27220536 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 592
(R592H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127329
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025866]
[ENSMUST00000047645]
[ENSMUST00000165761]
[ENSMUST00000167487]
[ENSMUST00000172302]
|
| AlphaFold |
P98156 |
| Predicted Effect |
probably benign
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 |
possibly damaging
Transcript: ENSMUST00000047645
AA Change: R551H
PolyPhen 2
Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000049145
Gene: ENSMUSG00000024924
AA Change: R551H
| 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 |
possibly damaging
Transcript: ENSMUST00000165761
AA Change: R219H
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000130382
Gene: ENSMUSG00000024924
AA Change: R219H
| 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: R592H
PolyPhen 2
Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000127329
Gene: ENSMUSG00000024924
AA Change: R592H
| 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 |
possibly damaging
Transcript: ENSMUST00000172302
AA Change: R592H
PolyPhen 2
Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000126730
Gene: ENSMUSG00000024924
AA Change: R592H
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| 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: 95 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110025L11Rik |
G |
T |
16: 88,860,618 (GRCm39) |
S72Y |
unknown |
Het |
| Abca8b |
T |
A |
11: 109,826,543 (GRCm39) |
K1568N |
probably benign |
Het |
| Adcy6 |
T |
A |
15: 98,493,948 (GRCm39) |
Y865F |
probably benign |
Het |
| Adgrf3 |
A |
T |
5: 30,402,204 (GRCm39) |
V608D |
probably benign |
Het |
| Agbl1 |
G |
T |
7: 76,416,117 (GRCm39) |
A965S |
unknown |
Het |
| Agbl3 |
C |
T |
6: 34,809,443 (GRCm39) |
P690L |
probably benign |
Het |
| Akap9 |
C |
G |
5: 4,018,745 (GRCm39) |
H1109D |
probably benign |
Het |
| Amt |
A |
C |
9: 108,174,430 (GRCm39) |
H65P |
probably damaging |
Het |
| Ankrd11 |
T |
A |
8: 123,620,403 (GRCm39) |
T1150S |
probably benign |
Het |
| Arhgap15 |
A |
C |
2: 44,032,280 (GRCm39) |
H288P |
probably benign |
Het |
| Arhgap39 |
A |
T |
15: 76,621,617 (GRCm39) |
M328K |
probably benign |
Het |
| Arhgef12 |
T |
C |
9: 42,903,832 (GRCm39) |
K743R |
probably damaging |
Het |
| Atg2a |
T |
G |
19: 6,301,293 (GRCm39) |
V789G |
probably damaging |
Het |
| Ccdc54 |
T |
C |
16: 50,410,844 (GRCm39) |
T141A |
probably benign |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Cdh5 |
T |
C |
8: 104,856,033 (GRCm39) |
|
probably null |
Het |
| Cdkl3 |
T |
C |
11: 51,918,009 (GRCm39) |
V404A |
not run |
Het |
| Chrm2 |
A |
T |
6: 36,500,184 (GRCm39) |
I14F |
probably benign |
Het |
| Cnbp |
T |
C |
6: 87,822,258 (GRCm39) |
K89E |
possibly damaging |
Het |
| Cntn6 |
T |
A |
6: 104,627,444 (GRCm39) |
D92E |
probably benign |
Het |
| Col15a1 |
T |
C |
4: 47,245,591 (GRCm39) |
F114S |
possibly damaging |
Het |
| Csrnp1 |
A |
G |
9: 119,801,469 (GRCm39) |
F530S |
probably benign |
Het |
| Dcun1d3 |
C |
T |
7: 119,456,891 (GRCm39) |
V274M |
probably damaging |
Het |
| Dph2 |
T |
A |
4: 117,747,478 (GRCm39) |
H302L |
possibly damaging |
Het |
| Fam162a |
A |
T |
16: 35,866,770 (GRCm39) |
Y118* |
probably null |
Het |
| Fam186a |
A |
G |
15: 99,837,725 (GRCm39) |
Y2840H |
unknown |
Het |
| Fto |
A |
G |
8: 92,392,950 (GRCm39) |
K466E |
probably benign |
Het |
| Gal |
T |
A |
19: 3,463,309 (GRCm39) |
Y41F |
probably damaging |
Het |
| Gigyf2 |
A |
T |
1: 87,346,860 (GRCm39) |
L620F |
unknown |
Het |
| Git2 |
C |
T |
5: 114,904,550 (GRCm39) |
R123H |
probably damaging |
Het |
| Glud1 |
A |
T |
14: 34,033,114 (GRCm39) |
E87V |
probably benign |
Het |
| Gm21190 |
T |
G |
5: 15,732,923 (GRCm39) |
E94A |
possibly damaging |
Het |
| Gm5592 |
T |
C |
7: 40,938,134 (GRCm39) |
V472A |
probably benign |
Het |
| Gpc5 |
T |
A |
14: 115,665,620 (GRCm39) |
N481K |
possibly damaging |
Het |
| Gpn2 |
A |
G |
4: 133,318,687 (GRCm39) |
E304G |
probably benign |
Het |
| Gsdmc2 |
T |
C |
15: 63,696,903 (GRCm39) |
T423A |
probably damaging |
Het |
| Gucy2e |
G |
A |
11: 69,117,055 (GRCm39) |
Q789* |
probably null |
Het |
| Gxylt2 |
T |
A |
6: 100,760,104 (GRCm39) |
V213E |
probably damaging |
Het |
| Ighv1-75 |
G |
A |
12: 115,797,731 (GRCm39) |
L64F |
possibly damaging |
Het |
| Il17re |
T |
C |
6: 113,435,943 (GRCm39) |
C30R |
probably benign |
Het |
| Il7 |
G |
T |
3: 7,669,142 (GRCm39) |
D31E |
probably benign |
Het |
| Ints4 |
T |
C |
7: 97,178,460 (GRCm39) |
Y687H |
possibly damaging |
Het |
| Kdelr1 |
T |
G |
7: 45,532,401 (GRCm39) |
V202G |
probably benign |
Het |
| Khnyn |
C |
A |
14: 56,124,596 (GRCm39) |
Y283* |
probably null |
Het |
| Klf11 |
T |
C |
12: 24,703,670 (GRCm39) |
V52A |
probably damaging |
Het |
| Klhl7 |
A |
G |
5: 24,346,284 (GRCm39) |
N310S |
probably benign |
Het |
| Krt27 |
A |
T |
11: 99,240,312 (GRCm39) |
L202Q |
possibly damaging |
Het |
| Lce1d |
A |
G |
3: 92,593,354 (GRCm39) |
C20R |
unknown |
Het |
| Lim2 |
A |
T |
7: 43,083,054 (GRCm39) |
I80F |
possibly damaging |
Het |
| Lrrk2 |
T |
A |
15: 91,584,561 (GRCm39) |
F326Y |
possibly damaging |
Het |
| Lyst |
A |
T |
13: 13,905,061 (GRCm39) |
Y3246F |
possibly damaging |
Het |
| Mafb |
T |
A |
2: 160,208,355 (GRCm39) |
H81L |
possibly damaging |
Het |
| Mfsd5 |
G |
A |
15: 102,189,312 (GRCm39) |
R228H |
probably benign |
Het |
| Mmp1b |
A |
T |
9: 7,386,675 (GRCm39) |
F150I |
possibly damaging |
Het |
| Mthfd1 |
T |
A |
12: 76,317,209 (GRCm39) |
L20Q |
probably damaging |
Het |
| Mxra8 |
A |
G |
4: 155,927,420 (GRCm39) |
T402A |
probably benign |
Het |
| Ndc80 |
A |
T |
17: 71,815,658 (GRCm39) |
L376M |
probably damaging |
Het |
| Nsd1 |
A |
T |
13: 55,425,452 (GRCm39) |
R1536S |
probably damaging |
Het |
| Nup210l |
C |
A |
3: 90,119,300 (GRCm39) |
H1874Q |
probably benign |
Het |
| Nyap1 |
T |
C |
5: 137,731,236 (GRCm39) |
H776R |
probably benign |
Het |
| Patj |
C |
A |
4: 98,576,416 (GRCm39) |
H1773Q |
probably damaging |
Het |
| Pax8 |
T |
A |
2: 24,326,523 (GRCm39) |
T280S |
probably benign |
Het |
| Pcdhb19 |
A |
G |
18: 37,632,034 (GRCm39) |
T610A |
probably damaging |
Het |
| Pde2a |
A |
G |
7: 101,160,788 (GRCm39) |
D919G |
possibly damaging |
Het |
| Pdk2 |
T |
A |
11: 94,919,791 (GRCm39) |
Y240F |
probably damaging |
Het |
| Peg3 |
A |
T |
7: 6,712,609 (GRCm39) |
I871N |
probably damaging |
Het |
| Pex1 |
A |
T |
5: 3,646,244 (GRCm39) |
|
probably benign |
Het |
| Pgm2l1 |
C |
T |
7: 99,899,535 (GRCm39) |
R50W |
probably damaging |
Het |
| Phkg1 |
T |
A |
5: 129,894,764 (GRCm39) |
K262N |
probably damaging |
Het |
| Pik3r4 |
A |
G |
9: 105,521,710 (GRCm39) |
E92G |
probably damaging |
Het |
| Prmt6 |
A |
T |
3: 110,157,701 (GRCm39) |
V196E |
possibly damaging |
Het |
| Ptprn2 |
T |
G |
12: 116,685,739 (GRCm39) |
M66R |
probably benign |
Het |
| Rai14 |
C |
T |
15: 10,593,189 (GRCm39) |
G152R |
probably damaging |
Het |
| Recql5 |
A |
T |
11: 115,814,102 (GRCm39) |
S348T |
probably damaging |
Het |
| Rfk |
T |
G |
19: 17,376,046 (GRCm39) |
|
probably null |
Het |
| Ro60 |
T |
C |
1: 143,646,611 (GRCm39) |
T45A |
probably damaging |
Het |
| Selenbp1 |
A |
T |
3: 94,851,413 (GRCm39) |
M389L |
probably benign |
Het |
| Sipa1l2 |
G |
A |
8: 126,219,029 (GRCm39) |
R103C |
probably benign |
Het |
| Slc10a6 |
T |
A |
5: 103,777,056 (GRCm39) |
S15C |
probably damaging |
Het |
| Slc12a2 |
G |
T |
18: 58,065,596 (GRCm39) |
V944L |
probably benign |
Het |
| Slc16a11 |
T |
A |
11: 70,106,143 (GRCm39) |
L127Q |
possibly damaging |
Het |
| Spef1l |
T |
C |
7: 139,556,531 (GRCm39) |
N152S |
probably benign |
Het |
| St6gal1 |
A |
G |
16: 23,174,978 (GRCm39) |
Y272C |
probably damaging |
Het |
| Stab2 |
C |
A |
10: 86,816,999 (GRCm39) |
V133F |
probably benign |
Het |
| Stradb |
G |
A |
1: 59,031,885 (GRCm39) |
V266I |
probably damaging |
Het |
| Tmem150b |
A |
G |
7: 4,723,758 (GRCm39) |
W140R |
probably benign |
Het |
| Tnnt3 |
A |
T |
7: 142,065,833 (GRCm39) |
K157* |
probably null |
Het |
| Ttn |
T |
G |
2: 76,554,113 (GRCm39) |
K30863N |
probably damaging |
Het |
| Vmn1r12 |
A |
T |
6: 57,135,883 (GRCm39) |
|
probably benign |
Het |
| Vmn2r63 |
A |
C |
7: 42,574,693 (GRCm39) |
S519R |
probably damaging |
Het |
| Zbtb22 |
G |
C |
17: 34,137,471 (GRCm39) |
E539Q |
probably damaging |
Het |
| Zbtb44 |
G |
A |
9: 30,965,375 (GRCm39) |
A262T |
probably benign |
Het |
| Zfp280d |
A |
T |
9: 72,231,354 (GRCm39) |
N455I |
probably damaging |
Het |
| Zfp287 |
T |
C |
11: 62,616,089 (GRCm39) |
N201D |
probably damaging |
Het |
| Zfp988 |
T |
C |
4: 147,416,751 (GRCm39) |
L395P |
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 |
|
|
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 |
|
|
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'- GCTTAAGGGTTTCCTGATCATTC -3'
(R):5'- TGGATGACAAGCCAGTGATC -3'
Sequencing Primer
(F):5'- AGGGTTTCCTGATCATTCTTTAAGC -3'
(R):5'- CAGTGATCTGGCACCCATAATTTG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation