Incidental Mutation 'R9380:Vldlr'
| ID |
709983 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vldlr
|
| Ensembl Gene |
ENSMUSG00000024924 |
| Gene Name |
very low density lipoprotein receptor |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.250)
|
| Stock # |
R9380 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
27193884-27231631 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 27216192 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 338
(C338S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127329
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025866]
[ENSMUST00000047645]
[ENSMUST00000164746]
[ENSMUST00000165761]
[ENSMUST00000167487]
[ENSMUST00000172302]
|
| AlphaFold |
P98156 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025866
AA Change: C338S
PolyPhen 2
Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000025866
Gene: ENSMUSG00000024924
AA Change: C338S
| 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: C297S
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000049145
Gene: ENSMUSG00000024924
AA Change: C297S
| 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 |
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: C7S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130382
Gene: ENSMUSG00000024924
AA Change: C7S
| 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: C338S
PolyPhen 2
Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000127329
Gene: ENSMUSG00000024924
AA Change: C338S
| 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: C338S
PolyPhen 2
Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000126730
Gene: ENSMUSG00000024924
AA Change: C338S
| 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: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
100% (79/79) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl3 |
T |
G |
1: 78,659,602 (GRCm39) |
C85G |
possibly damaging |
Het |
| Alox12e |
A |
T |
11: 70,206,994 (GRCm39) |
|
probably null |
Het |
| Aoc1l2 |
T |
C |
6: 48,910,064 (GRCm39) |
I667T |
probably damaging |
Het |
| Asb10 |
A |
C |
5: 24,739,103 (GRCm39) |
|
probably null |
Het |
| B3galt9 |
G |
A |
2: 34,729,029 (GRCm39) |
C276Y |
probably damaging |
Het |
| Bcl2a1d |
G |
A |
9: 88,613,935 (GRCm39) |
|
probably benign |
Het |
| Camsap3 |
A |
T |
8: 3,653,999 (GRCm39) |
K556N |
probably benign |
Het |
| Cd300lf |
T |
A |
11: 115,015,153 (GRCm39) |
T146S |
probably benign |
Het |
| Chuk |
C |
A |
19: 44,062,958 (GRCm39) |
A744S |
unknown |
Het |
| Clint1 |
A |
T |
11: 45,742,988 (GRCm39) |
M4L |
probably benign |
Het |
| Cnot4 |
T |
C |
6: 35,029,865 (GRCm39) |
I344M |
possibly damaging |
Het |
| Cpne1 |
T |
C |
2: 155,920,721 (GRCm39) |
D135G |
probably benign |
Het |
| Csgalnact2 |
C |
A |
6: 118,105,840 (GRCm39) |
L159F |
probably damaging |
Het |
| Dnai2 |
T |
C |
11: 114,635,989 (GRCm39) |
F325L |
probably benign |
Het |
| Dnal4 |
G |
A |
15: 79,647,790 (GRCm39) |
S25L |
possibly damaging |
Het |
| Ep300 |
T |
C |
15: 81,500,245 (GRCm39) |
M515T |
unknown |
Het |
| Ewsr1 |
T |
C |
11: 5,043,730 (GRCm39) |
Y18C |
possibly damaging |
Het |
| Fam25a |
T |
C |
14: 34,073,957 (GRCm39) |
T72A |
possibly damaging |
Het |
| Flii |
T |
C |
11: 60,606,297 (GRCm39) |
Y1131C |
probably benign |
Het |
| Foxj1 |
C |
T |
11: 116,222,547 (GRCm39) |
A419T |
possibly damaging |
Het |
| Fsd1l |
A |
G |
4: 53,693,991 (GRCm39) |
T323A |
possibly damaging |
Het |
| Furin |
T |
C |
7: 80,041,506 (GRCm39) |
I551V |
probably benign |
Het |
| Gbp11 |
A |
G |
5: 105,475,202 (GRCm39) |
V382A |
probably benign |
Het |
| Gfod1 |
A |
C |
13: 43,354,320 (GRCm39) |
D218E |
probably damaging |
Het |
| Glp2r |
A |
T |
11: 67,637,572 (GRCm39) |
I153N |
possibly damaging |
Het |
| Gm11214 |
G |
T |
4: 63,580,850 (GRCm39) |
P100T |
possibly damaging |
Het |
| Gne |
A |
T |
4: 44,066,807 (GRCm39) |
F69I |
probably benign |
Het |
| Hsd3b2 |
T |
C |
3: 98,619,453 (GRCm39) |
K164R |
probably damaging |
Het |
| Hspa1b |
T |
C |
17: 35,177,170 (GRCm39) |
R272G |
probably damaging |
Het |
| Hydin |
C |
A |
8: 111,290,504 (GRCm39) |
T3321N |
probably benign |
Het |
| Impg1 |
A |
T |
9: 80,289,077 (GRCm39) |
S327T |
probably benign |
Het |
| Izumo2 |
T |
C |
7: 44,364,812 (GRCm39) |
V159A |
probably benign |
Het |
| Kat6b |
T |
C |
14: 21,678,926 (GRCm39) |
S430P |
probably damaging |
Het |
| Kcnj9 |
T |
A |
1: 172,153,447 (GRCm39) |
T226S |
probably benign |
Het |
| Kl |
T |
A |
5: 150,912,342 (GRCm39) |
M697K |
possibly damaging |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Lrrk1 |
G |
A |
7: 65,928,331 (GRCm39) |
P1266S |
probably damaging |
Het |
| Med13 |
A |
T |
11: 86,177,598 (GRCm39) |
N1499K |
probably benign |
Het |
| Mybbp1a |
A |
G |
11: 72,333,668 (GRCm39) |
I182V |
probably benign |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nin |
A |
G |
12: 70,074,805 (GRCm39) |
L1859P |
|
Het |
| Nlrp4e |
C |
G |
7: 23,020,755 (GRCm39) |
A414G |
probably benign |
Het |
| Or2y10 |
A |
G |
11: 49,454,904 (GRCm39) |
D52G |
possibly damaging |
Het |
| Or4a67 |
A |
T |
2: 88,598,530 (GRCm39) |
I43N |
probably damaging |
Het |
| Or4k1 |
C |
A |
14: 50,377,770 (GRCm39) |
G109W |
probably damaging |
Het |
| Or8b50 |
A |
G |
9: 38,518,415 (GRCm39) |
Y218C |
probably damaging |
Het |
| Osbpl8 |
T |
A |
10: 111,108,980 (GRCm39) |
S421T |
probably damaging |
Het |
| Paqr7 |
A |
G |
4: 134,234,350 (GRCm39) |
N69S |
probably damaging |
Het |
| Pcare |
A |
T |
17: 72,056,351 (GRCm39) |
S1109T |
possibly damaging |
Het |
| Pdgfrb |
G |
A |
18: 61,197,920 (GRCm39) |
G231D |
probably damaging |
Het |
| Pip5k1b |
A |
G |
19: 24,356,417 (GRCm39) |
Y174H |
probably damaging |
Het |
| Pkd1 |
T |
A |
17: 24,769,262 (GRCm39) |
L9Q |
unknown |
Het |
| Psmg4 |
A |
T |
13: 34,350,080 (GRCm39) |
T71S |
probably benign |
Het |
| Ptpn23 |
A |
G |
9: 110,221,581 (GRCm39) |
I173T |
possibly damaging |
Het |
| Qser1 |
G |
A |
2: 104,619,691 (GRCm39) |
Q284* |
probably null |
Het |
| Rcc2 |
G |
T |
4: 140,429,702 (GRCm39) |
A79S |
probably benign |
Het |
| Rgl3 |
G |
T |
9: 21,888,123 (GRCm39) |
Q464K |
probably damaging |
Het |
| Rhov |
C |
A |
2: 119,100,604 (GRCm39) |
R211L |
probably benign |
Het |
| Rp1l1 |
A |
G |
14: 64,266,475 (GRCm39) |
D687G |
probably benign |
Het |
| Selenbp2 |
A |
G |
3: 94,609,654 (GRCm39) |
I291V |
probably benign |
Het |
| Sh3glb2 |
A |
T |
2: 30,238,625 (GRCm39) |
V189E |
probably damaging |
Het |
| Slc46a2 |
A |
G |
4: 59,913,867 (GRCm39) |
I352T |
probably damaging |
Het |
| Sucla2 |
T |
A |
14: 73,828,312 (GRCm39) |
N306K |
probably benign |
Het |
| Suco |
A |
G |
1: 161,646,074 (GRCm39) |
V1209A |
possibly damaging |
Het |
| Tacc2 |
T |
A |
7: 130,226,771 (GRCm39) |
L1152Q |
possibly damaging |
Het |
| Tanc1 |
A |
T |
2: 59,665,796 (GRCm39) |
K1185M |
probably damaging |
Het |
| Tas2r114 |
A |
G |
6: 131,666,381 (GRCm39) |
F216L |
probably benign |
Het |
| Tead1 |
A |
T |
7: 112,441,105 (GRCm39) |
H78L |
possibly damaging |
Het |
| Tex12 |
T |
C |
9: 50,469,586 (GRCm39) |
I64V |
possibly damaging |
Het |
| Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,650,884 (GRCm39) |
|
probably null |
Het |
| Trank1 |
A |
G |
9: 111,221,738 (GRCm39) |
E2825G |
probably benign |
Het |
| Trappc13 |
T |
A |
13: 104,280,707 (GRCm39) |
Y399F |
probably damaging |
Het |
| Trim21 |
T |
C |
7: 102,212,992 (GRCm39) |
D102G |
probably damaging |
Het |
| Trim27 |
G |
T |
13: 21,364,680 (GRCm39) |
V6L |
probably benign |
Het |
| Trim55 |
A |
G |
3: 19,728,559 (GRCm39) |
T457A |
probably benign |
Het |
| Trrap |
A |
G |
5: 144,769,981 (GRCm39) |
E2716G |
probably benign |
Het |
| Usp10 |
T |
G |
8: 120,682,943 (GRCm39) |
L712R |
probably damaging |
Het |
| Zfp946 |
A |
G |
17: 22,673,680 (GRCm39) |
I145V |
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 |
|
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 |
|
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'- GTTTGTCATGGGCTAAAATTCCAC -3'
Sequencing Primer
(F):5'- GCAAAAACGGTGAGGTTCTTTCTCC -3'
(R):5'- GGGCTAAAATTCCACTTTGAAATAC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation