Incidental Mutation 'IGL02813:Lrp1b'
ID |
360686 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lrp1b
|
Ensembl Gene |
ENSMUSG00000049252 |
Gene Name |
low density lipoprotein-related protein 1B (deleted in tumors) |
Synonyms |
9630004P12Rik |
Accession Numbers |
Genbank: NM_053011.2
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02813
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
40595246-42653624 bp(-) (GRCm38) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
T to C
at 40679217 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052550]
[ENSMUST00000052550]
[ENSMUST00000052550]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000052550
|
SMART Domains |
Protein: ENSMUSP00000054275 Gene: ENSMUSG00000049252
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 |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000052550
|
SMART Domains |
Protein: ENSMUSP00000054275 Gene: ENSMUSG00000049252
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 |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000052550
|
SMART Domains |
Protein: ENSMUSP00000054275 Gene: ENSMUSG00000049252
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134032
|
Predicted Effect |
probably null
Transcript: ENSMUST00000142546
|
SMART Domains |
Protein: ENSMUSP00000117212 Gene: ENSMUSG00000049252
Domain | Start | End | E-Value | Type |
LDLa
|
2 |
30 |
1.76e-2 |
SMART |
EGF
|
36 |
75 |
3.71e0 |
SMART |
EGF_CA
|
76 |
113 |
6.8e-8 |
SMART |
LY
|
188 |
234 |
4.24e0 |
SMART |
LY
|
251 |
294 |
4.46e-3 |
SMART |
LY
|
295 |
337 |
1.73e-9 |
SMART |
EGF
|
407 |
440 |
2.45e0 |
SMART |
EGF
|
448 |
481 |
2.48e-1 |
SMART |
EGF
|
484 |
517 |
1.49e-4 |
SMART |
EGF
|
520 |
553 |
1.69e-3 |
SMART |
EGF
|
556 |
589 |
1.18e1 |
SMART |
EGF_like
|
592 |
624 |
6.67e1 |
SMART |
EGF
|
625 |
659 |
1.61e0 |
SMART |
transmembrane domain
|
677 |
699 |
N/A |
INTRINSIC |
low complexity region
|
700 |
710 |
N/A |
INTRINSIC |
low complexity region
|
713 |
724 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000142546
|
SMART Domains |
Protein: ENSMUSP00000117212 Gene: ENSMUSG00000049252
Domain | Start | End | E-Value | Type |
LDLa
|
2 |
30 |
1.76e-2 |
SMART |
EGF
|
36 |
75 |
3.71e0 |
SMART |
EGF_CA
|
76 |
113 |
6.8e-8 |
SMART |
LY
|
188 |
234 |
4.24e0 |
SMART |
LY
|
251 |
294 |
4.46e-3 |
SMART |
LY
|
295 |
337 |
1.73e-9 |
SMART |
EGF
|
407 |
440 |
2.45e0 |
SMART |
EGF
|
448 |
481 |
2.48e-1 |
SMART |
EGF
|
484 |
517 |
1.49e-4 |
SMART |
EGF
|
520 |
553 |
1.69e-3 |
SMART |
EGF
|
556 |
589 |
1.18e1 |
SMART |
EGF_like
|
592 |
624 |
6.67e1 |
SMART |
EGF
|
625 |
659 |
1.61e0 |
SMART |
transmembrane domain
|
677 |
699 |
N/A |
INTRINSIC |
low complexity region
|
700 |
710 |
N/A |
INTRINSIC |
low complexity region
|
713 |
724 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000142546
|
SMART Domains |
Protein: ENSMUSP00000117212 Gene: ENSMUSG00000049252
Domain | Start | End | E-Value | Type |
LDLa
|
2 |
30 |
1.76e-2 |
SMART |
EGF
|
36 |
75 |
3.71e0 |
SMART |
EGF_CA
|
76 |
113 |
6.8e-8 |
SMART |
LY
|
188 |
234 |
4.24e0 |
SMART |
LY
|
251 |
294 |
4.46e-3 |
SMART |
LY
|
295 |
337 |
1.73e-9 |
SMART |
EGF
|
407 |
440 |
2.45e0 |
SMART |
EGF
|
448 |
481 |
2.48e-1 |
SMART |
EGF
|
484 |
517 |
1.49e-4 |
SMART |
EGF
|
520 |
553 |
1.69e-3 |
SMART |
EGF
|
556 |
589 |
1.18e1 |
SMART |
EGF_like
|
592 |
624 |
6.67e1 |
SMART |
EGF
|
625 |
659 |
1.61e0 |
SMART |
transmembrane domain
|
677 |
699 |
N/A |
INTRINSIC |
low complexity region
|
700 |
710 |
N/A |
INTRINSIC |
low complexity region
|
713 |
724 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy1 |
C |
A |
11: 7,146,591 |
Q660K |
possibly damaging |
Het |
Arhgap5 |
A |
C |
12: 52,516,965 |
T240P |
probably benign |
Het |
Arhgef7 |
C |
T |
8: 11,800,767 |
|
probably benign |
Het |
Cttnbp2 |
C |
A |
6: 18,367,538 |
V1594F |
possibly damaging |
Het |
Cyp2a22 |
G |
T |
7: 26,936,434 |
Q235K |
probably benign |
Het |
E330009J07Rik |
C |
T |
6: 40,418,539 |
V212I |
probably benign |
Het |
Ecm1 |
G |
A |
3: 95,736,786 |
P169S |
probably damaging |
Het |
Emilin3 |
G |
A |
2: 160,908,729 |
Q320* |
probably null |
Het |
Ern1 |
T |
C |
11: 106,423,425 |
D183G |
probably damaging |
Het |
Gpat2 |
T |
C |
2: 127,434,455 |
V635A |
possibly damaging |
Het |
Gria1 |
A |
G |
11: 57,283,584 |
N564S |
probably damaging |
Het |
Grtp1 |
A |
C |
8: 13,186,945 |
I173S |
possibly damaging |
Het |
Hsd17b4 |
A |
G |
18: 50,128,348 |
|
probably benign |
Het |
Mark4 |
A |
T |
7: 19,447,256 |
|
probably null |
Het |
Mphosph9 |
T |
C |
5: 124,315,628 |
D207G |
probably benign |
Het |
Mrgprd |
A |
G |
7: 145,321,514 |
M41V |
probably benign |
Het |
Myo1g |
T |
C |
11: 6,518,743 |
*66W |
probably null |
Het |
Neto2 |
C |
A |
8: 85,690,886 |
D30Y |
probably benign |
Het |
Nlrp6 |
A |
T |
7: 140,923,420 |
I450F |
possibly damaging |
Het |
Nup155 |
T |
A |
15: 8,130,121 |
|
probably benign |
Het |
Olfr1205 |
A |
G |
2: 88,831,151 |
I11M |
probably benign |
Het |
Pcdhb10 |
T |
G |
18: 37,413,762 |
S630R |
possibly damaging |
Het |
Rwdd4a |
T |
C |
8: 47,537,361 |
|
probably null |
Het |
Slc12a7 |
T |
A |
13: 73,813,676 |
|
probably benign |
Het |
Slc22a20 |
C |
T |
19: 5,984,858 |
V192I |
probably benign |
Het |
Slc9a2 |
T |
A |
1: 40,742,669 |
S353T |
probably damaging |
Het |
Srgap3 |
A |
G |
6: 112,731,480 |
F753L |
probably damaging |
Het |
Tcea1 |
C |
T |
1: 4,886,756 |
T93I |
probably benign |
Het |
Tctex1d1 |
A |
G |
4: 102,992,572 |
N64S |
probably damaging |
Het |
Tecpr2 |
A |
T |
12: 110,933,192 |
S665C |
probably damaging |
Het |
Tor4a |
C |
A |
2: 25,194,749 |
E381* |
probably null |
Het |
Vdr |
A |
G |
15: 97,869,681 |
Y143H |
probably benign |
Het |
Vmn2r91 |
A |
C |
17: 18,136,086 |
T672P |
possibly damaging |
Het |
Wdr41 |
A |
G |
13: 94,995,245 |
|
probably null |
Het |
|
Other mutations in Lrp1b |
|
Posted On |
2015-12-18 |