Incidental Mutation 'R5889:Vldlr'
| ID |
456251 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vldlr
|
| Ensembl Gene |
ENSMUSG00000024924 |
| Gene Name |
very low density lipoprotein receptor |
| Synonyms |
|
| MMRRC Submission |
044090-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.250)
|
| Stock # |
R5889 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
27193884-27231631 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 27217064 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 39
(I39N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130382
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025866]
[ENSMUST00000047645]
[ENSMUST00000164746]
[ENSMUST00000165761]
[ENSMUST00000167487]
[ENSMUST00000172302]
|
| AlphaFold |
P98156 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025866
AA Change: I370N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000025866
Gene: ENSMUSG00000024924
AA Change: I370N
| 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: I329N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000049145
Gene: ENSMUSG00000024924
AA Change: I329N
| 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 damaging
Transcript: ENSMUST00000165761
AA Change: I39N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000130382
Gene: ENSMUSG00000024924
AA Change: I39N
| 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: I370N
PolyPhen 2
Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000127329
Gene: ENSMUSG00000024924
AA Change: I370N
| 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: I370N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000126730
Gene: ENSMUSG00000024924
AA Change: I370N
| 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 |
0.1986 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.3%
|
| Validation Efficiency |
100% (63/63) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
T |
C |
2: 35,244,461 (GRCm39) |
E297G |
probably damaging |
Het |
| Astn1 |
C |
T |
1: 158,427,950 (GRCm39) |
P707L |
possibly damaging |
Het |
| Cep290 |
T |
C |
10: 100,334,936 (GRCm39) |
S319P |
possibly damaging |
Het |
| Chrna4 |
A |
C |
2: 180,670,451 (GRCm39) |
L435W |
probably damaging |
Het |
| Cilp |
C |
A |
9: 65,187,625 (GRCm39) |
A1240D |
possibly damaging |
Het |
| Col17a1 |
A |
G |
19: 47,637,511 (GRCm39) |
F1249S |
possibly damaging |
Het |
| Creb3l3 |
T |
C |
10: 80,928,367 (GRCm39) |
|
probably benign |
Het |
| Cyp4f40 |
C |
A |
17: 32,894,731 (GRCm39) |
T432N |
probably benign |
Het |
| Dsg1c |
T |
G |
18: 20,416,658 (GRCm39) |
I853R |
possibly damaging |
Het |
| Ebna1bp2 |
T |
A |
4: 118,478,620 (GRCm39) |
D34E |
probably damaging |
Het |
| Edc4 |
C |
T |
8: 106,614,654 (GRCm39) |
T112I |
possibly damaging |
Het |
| Enpep |
T |
A |
3: 129,106,227 (GRCm39) |
Y333F |
probably damaging |
Het |
| Exoc6 |
A |
G |
19: 37,570,693 (GRCm39) |
H291R |
probably damaging |
Het |
| Fbln5 |
G |
T |
12: 101,731,485 (GRCm39) |
N236K |
probably damaging |
Het |
| Fndc8 |
A |
T |
11: 82,789,555 (GRCm39) |
T238S |
probably damaging |
Het |
| Frem3 |
T |
C |
8: 81,340,917 (GRCm39) |
V1070A |
probably damaging |
Het |
| Gabra4 |
A |
T |
5: 71,729,234 (GRCm39) |
N515K |
possibly damaging |
Het |
| Gemin5 |
A |
G |
11: 58,013,181 (GRCm39) |
V1422A |
possibly damaging |
Het |
| Gm10118 |
A |
G |
10: 63,762,890 (GRCm39) |
|
probably benign |
Het |
| Grm5 |
A |
G |
7: 87,252,281 (GRCm39) |
D177G |
probably damaging |
Het |
| Gtf2h4 |
G |
A |
17: 35,981,792 (GRCm39) |
P147L |
possibly damaging |
Het |
| Hgsnat |
T |
C |
8: 26,453,395 (GRCm39) |
D265G |
probably damaging |
Het |
| Hsd17b4 |
T |
A |
18: 50,310,276 (GRCm39) |
L513Q |
probably damaging |
Het |
| Hsd17b7 |
A |
T |
1: 169,783,487 (GRCm39) |
M307K |
probably benign |
Het |
| Hspa5 |
T |
C |
2: 34,664,629 (GRCm39) |
V361A |
probably damaging |
Het |
| Iqgap2 |
A |
G |
13: 95,768,550 (GRCm39) |
V1450A |
probably benign |
Het |
| Itpr3 |
A |
G |
17: 27,334,039 (GRCm39) |
E2037G |
probably damaging |
Het |
| Itprid2 |
T |
A |
2: 79,488,072 (GRCm39) |
D718E |
probably damaging |
Het |
| Lama5 |
T |
C |
2: 179,835,467 (GRCm39) |
|
probably benign |
Het |
| Manba |
G |
T |
3: 135,230,359 (GRCm39) |
G311* |
probably null |
Het |
| Mettl24 |
T |
A |
10: 40,622,486 (GRCm39) |
V236E |
probably benign |
Het |
| Myh3 |
A |
G |
11: 66,977,201 (GRCm39) |
D310G |
probably damaging |
Het |
| Ncoa4 |
A |
T |
14: 31,888,616 (GRCm39) |
|
probably benign |
Het |
| Nop56 |
G |
T |
2: 130,117,902 (GRCm39) |
R126L |
probably damaging |
Het |
| Nos3 |
C |
A |
5: 24,573,775 (GRCm39) |
|
probably benign |
Het |
| Or13c7b |
T |
C |
4: 43,820,492 (GRCm39) |
M290V |
possibly damaging |
Het |
| Pcdhga3 |
T |
A |
18: 37,809,662 (GRCm39) |
V705D |
probably damaging |
Het |
| Prom2 |
C |
T |
2: 127,371,331 (GRCm39) |
A776T |
possibly damaging |
Het |
| Prss48 |
A |
G |
3: 85,905,492 (GRCm39) |
I127T |
probably damaging |
Het |
| Rtca |
T |
C |
3: 116,293,232 (GRCm39) |
Y193C |
possibly damaging |
Het |
| Samd9l |
T |
C |
6: 3,376,460 (GRCm39) |
Y267C |
probably damaging |
Het |
| Scube3 |
A |
G |
17: 28,379,887 (GRCm39) |
R272G |
possibly damaging |
Het |
| Sprr1a |
G |
T |
3: 92,391,951 (GRCm39) |
H17N |
probably benign |
Het |
| Stard3 |
G |
C |
11: 98,266,361 (GRCm39) |
Q120H |
probably benign |
Het |
| Supt6 |
A |
G |
11: 78,103,574 (GRCm39) |
I1377T |
probably damaging |
Het |
| Svop |
A |
T |
5: 114,203,692 (GRCm39) |
S30T |
probably benign |
Het |
| Syne2 |
T |
A |
12: 76,119,026 (GRCm39) |
L5882* |
probably null |
Het |
| Tanc2 |
G |
T |
11: 105,812,633 (GRCm39) |
R1359L |
probably benign |
Het |
| Tmc7 |
A |
C |
7: 118,165,549 (GRCm39) |
L55R |
probably benign |
Het |
| Trappc11 |
G |
A |
8: 47,972,613 (GRCm39) |
A320V |
probably benign |
Het |
| Ttll8 |
G |
C |
15: 88,818,142 (GRCm39) |
P178A |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,560,993 (GRCm39) |
E20809G |
probably damaging |
Het |
| Tubb2a |
A |
T |
13: 34,259,451 (GRCm39) |
V113E |
possibly damaging |
Het |
| Ube2d1 |
A |
T |
10: 71,095,699 (GRCm39) |
|
probably benign |
Het |
| Usp48 |
T |
C |
4: 137,343,723 (GRCm39) |
V452A |
probably benign |
Het |
| Wbp1l |
C |
T |
19: 46,642,619 (GRCm39) |
R191* |
probably null |
Het |
| Zyg11b |
C |
T |
4: 108,094,577 (GRCm39) |
W669* |
probably null |
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 |
|
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'- CAATAGCCGGAGACTGAATGTG -3'
(R):5'- GGCATTCATCAATATCTAGGAGGG -3'
Sequencing Primer
(F):5'- TCTACAGAGTGAGTTCCAGGAC -3'
(R):5'- CCAGGCTCTTTGCTTCAA -3'
|
| Posted On |
2017-02-15 |
Incidental Mutation