Incidental Mutation 'R1277:Lrp1b'
ID |
150920 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrp1b
|
Ensembl Gene |
ENSMUSG00000049252 |
Gene Name |
low density lipoprotein-related protein 1B (deleted in tumors) |
Synonyms |
9630004P12Rik |
MMRRC Submission |
039343-MU
|
Accession Numbers |
Genbank: NM_053011.2
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1277 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
40595246-42653624 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 40725945 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 3593
(V3593A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000054275
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052550]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000052550
AA Change: V3593A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000054275 Gene: ENSMUSG00000049252 AA Change: V3593A
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
19 |
N/A |
INTRINSIC |
low complexity region
|
35 |
46 |
N/A |
INTRINSIC |
LDLa
|
62 |
102 |
2.97e-12 |
SMART |
LDLa
|
107 |
146 |
1.31e-8 |
SMART |
EGF
|
150 |
185 |
1.95e1 |
SMART |
EGF_CA
|
186 |
225 |
8.37e-8 |
SMART |
LY
|
256 |
300 |
4.06e1 |
SMART |
LY
|
304 |
348 |
1.15e-5 |
SMART |
LY
|
349 |
392 |
1.17e-11 |
SMART |
LY
|
393 |
435 |
1.12e-8 |
SMART |
LY
|
436 |
478 |
2.21e1 |
SMART |
EGF
|
505 |
548 |
2.45e0 |
SMART |
LY
|
579 |
621 |
1.32e-5 |
SMART |
LY
|
622 |
665 |
1.88e-10 |
SMART |
LY
|
668 |
717 |
1.47e-12 |
SMART |
LY
|
718 |
760 |
5.78e-11 |
SMART |
LY
|
761 |
802 |
1.45e0 |
SMART |
EGF_like
|
828 |
865 |
4.55e1 |
SMART |
LDLa
|
875 |
914 |
7.15e-15 |
SMART |
LDLa
|
916 |
955 |
5.26e-13 |
SMART |
LDLa
|
957 |
995 |
6.13e-14 |
SMART |
LDLa
|
997 |
1035 |
6.47e-13 |
SMART |
LDLa
|
1036 |
1075 |
1.76e-14 |
SMART |
LDLa
|
1083 |
1121 |
2.29e-13 |
SMART |
LDLa
|
1125 |
1164 |
3.36e-11 |
SMART |
LDLa
|
1166 |
1206 |
2.57e-7 |
SMART |
EGF
|
1206 |
1244 |
1.58e-3 |
SMART |
EGF
|
1248 |
1284 |
4.56e0 |
SMART |
LY
|
1311 |
1353 |
4.85e-4 |
SMART |
LY
|
1358 |
1400 |
6.49e-14 |
SMART |
LY
|
1401 |
1445 |
8.18e-11 |
SMART |
LY
|
1446 |
1490 |
4.25e-9 |
SMART |
LY
|
1492 |
1534 |
5.4e-2 |
SMART |
EGF
|
1561 |
1601 |
9.41e-2 |
SMART |
LY
|
1629 |
1671 |
3.03e-5 |
SMART |
LY
|
1672 |
1716 |
1.22e-9 |
SMART |
LY
|
1718 |
1756 |
1.02e-2 |
SMART |
LY
|
1757 |
1798 |
8.25e-7 |
SMART |
EGF
|
1868 |
1906 |
4.03e-1 |
SMART |
LY
|
1933 |
1975 |
1.01e-1 |
SMART |
LY
|
1976 |
2018 |
3.03e-14 |
SMART |
LY
|
2019 |
2062 |
2.16e-10 |
SMART |
LY
|
2063 |
2105 |
4.09e-11 |
SMART |
LY
|
2107 |
2149 |
9.96e0 |
SMART |
EGF
|
2177 |
2214 |
2.13e0 |
SMART |
LY
|
2292 |
2334 |
6.96e-5 |
SMART |
LY
|
2340 |
2385 |
1.07e-5 |
SMART |
LY
|
2386 |
2428 |
1.1e-11 |
SMART |
LY
|
2429 |
2470 |
4.78e-3 |
SMART |
EGF
|
2498 |
2535 |
2.03e1 |
SMART |
LDLa
|
2540 |
2580 |
1.1e-6 |
SMART |
LDLa
|
2582 |
2619 |
1.72e-8 |
SMART |
LDLa
|
2621 |
2658 |
2.45e-13 |
SMART |
LDLa
|
2669 |
2707 |
6.53e-9 |
SMART |
LDLa
|
2712 |
2749 |
7.97e-13 |
SMART |
LDLa
|
2750 |
2789 |
1.22e-8 |
SMART |
LDLa
|
2791 |
2832 |
3.07e-14 |
SMART |
LDLa
|
2835 |
2873 |
7.32e-12 |
SMART |
LDLa
|
2875 |
2917 |
1.85e-8 |
SMART |
LDLa
|
2921 |
2958 |
4.76e-11 |
SMART |
EGF_CA
|
2957 |
2998 |
1.79e-7 |
SMART |
EGF_CA
|
2999 |
3039 |
1.85e-9 |
SMART |
LY
|
3066 |
3111 |
2.58e-8 |
SMART |
LY
|
3112 |
3152 |
1.22e-9 |
SMART |
LY
|
3153 |
3196 |
8.84e-7 |
SMART |
LY
|
3197 |
3237 |
3.22e-9 |
SMART |
LY
|
3238 |
3279 |
1.04e-3 |
SMART |
EGF
|
3307 |
3345 |
7.13e-2 |
SMART |
LDLa
|
3347 |
3385 |
9.29e-14 |
SMART |
LDLa
|
3387 |
3424 |
2.25e-12 |
SMART |
LDLa
|
3426 |
3464 |
5.63e-13 |
SMART |
LDLa
|
3466 |
3504 |
1.07e-13 |
SMART |
LDLa
|
3506 |
3543 |
1.35e-15 |
SMART |
EGF_like
|
3545 |
3581 |
2.8e1 |
SMART |
LDLa
|
3545 |
3582 |
1.49e-12 |
SMART |
LDLa
|
3583 |
3620 |
4.21e-12 |
SMART |
LDLa
|
3624 |
3661 |
4.9e-13 |
SMART |
LDLa
|
3662 |
3700 |
9.58e-16 |
SMART |
LDLa
|
3704 |
3743 |
5.38e-10 |
SMART |
LDLa
|
3745 |
3784 |
1.42e-9 |
SMART |
LDLa
|
3792 |
3829 |
3.66e-12 |
SMART |
EGF
|
3835 |
3874 |
3.71e0 |
SMART |
EGF_CA
|
3875 |
3912 |
6.8e-8 |
SMART |
LY
|
3987 |
4033 |
4.24e0 |
SMART |
LY
|
4050 |
4093 |
4.46e-3 |
SMART |
LY
|
4094 |
4136 |
1.73e-9 |
SMART |
EGF
|
4206 |
4239 |
2.45e0 |
SMART |
EGF
|
4247 |
4280 |
2.48e-1 |
SMART |
EGF
|
4283 |
4316 |
1.49e-4 |
SMART |
EGF
|
4319 |
4352 |
1.69e-3 |
SMART |
EGF
|
4355 |
4388 |
1.18e1 |
SMART |
EGF_like
|
4391 |
4423 |
6.67e1 |
SMART |
EGF
|
4424 |
4458 |
1.61e0 |
SMART |
transmembrane domain
|
4476 |
4498 |
N/A |
INTRINSIC |
low complexity region
|
4499 |
4509 |
N/A |
INTRINSIC |
low complexity region
|
4512 |
4523 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.2%
- 20x: 92.2%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the low density lipoprotein (LDL) receptor family. These receptors play a wide variety of roles in normal cell function and development due to their interactions with multiple ligands. Disruption of this gene has been reported in several types of cancer. [provided by RefSeq, Jun 2016] PHENOTYPE: Homozygous null mice appear normal, are fertile, have normal brain histology and function, normal plasma cholesterol and fasting triglycerides, and do not develop tumors. [provided by MGI curators]
|
Allele List at MGI |
All alleles(9) : Targeted, knock-out(3) Targeted, other(2) Gene trapped(4)
|
Other mutations in this stock |
Total: 15 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap8l |
C |
T |
17: 32,332,483 |
R511H |
probably damaging |
Het |
Appl1 |
A |
C |
14: 26,927,856 |
V571G |
possibly damaging |
Het |
Chd6 |
A |
T |
2: 160,967,815 |
C1509S |
probably damaging |
Het |
Clk4 |
A |
G |
11: 51,267,189 |
T7A |
probably benign |
Het |
Crlf2 |
C |
T |
5: 109,557,600 |
V30I |
possibly damaging |
Het |
Itpr1 |
A |
G |
6: 108,339,621 |
H93R |
probably benign |
Het |
Nudt12 |
G |
A |
17: 59,010,136 |
P172L |
probably damaging |
Het |
Pcdhb11 |
A |
T |
18: 37,421,716 |
Y33F |
possibly damaging |
Het |
Pkd2 |
A |
G |
5: 104,502,359 |
I862V |
probably damaging |
Het |
Prl3c1 |
T |
C |
13: 27,203,572 |
L180P |
probably damaging |
Het |
Ralgps1 |
A |
G |
2: 33,174,425 |
V228A |
possibly damaging |
Het |
Rfx7 |
A |
G |
9: 72,593,312 |
E118G |
probably benign |
Het |
Slc17a8 |
T |
C |
10: 89,597,457 |
T51A |
possibly damaging |
Het |
Uhrf1bp1 |
T |
C |
17: 27,890,071 |
F1088S |
possibly damaging |
Het |
Zfp414 |
G |
T |
17: 33,630,475 |
|
probably null |
Het |
|
Other mutations in Lrp1b |
|
Predicted Primers |
|
Posted On |
2014-01-29 |