Incidental Mutation 'IGL01747:Lrp1b'
ID |
153050 |
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
|
Is this an essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01747
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
40595246-42653624 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 40860685 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 2956
(I2956L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129192
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052550]
[ENSMUST00000167270]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000052550
AA Change: I3070L
PolyPhen 2
Score 0.224 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000054275 Gene: ENSMUSG00000049252 AA Change: I3070L
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 damaging
Transcript: ENSMUST00000167270
AA Change: I2956L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000129192 Gene: ENSMUSG00000049252 AA Change: I2956L
Domain | Start | End | E-Value | Type |
EGF
|
5 |
40 |
1.95e1 |
SMART |
EGF_CA
|
41 |
80 |
8.37e-8 |
SMART |
LY
|
111 |
155 |
4.06e1 |
SMART |
LY
|
159 |
203 |
1.15e-5 |
SMART |
LY
|
204 |
247 |
1.17e-11 |
SMART |
LY
|
248 |
290 |
1.12e-8 |
SMART |
LY
|
291 |
333 |
2.21e1 |
SMART |
EGF
|
360 |
403 |
2.45e0 |
SMART |
LY
|
434 |
476 |
1.32e-5 |
SMART |
LY
|
477 |
520 |
1.88e-10 |
SMART |
LY
|
523 |
572 |
1.47e-12 |
SMART |
LY
|
573 |
615 |
5.78e-11 |
SMART |
LY
|
616 |
657 |
1.45e0 |
SMART |
EGF_like
|
683 |
720 |
4.55e1 |
SMART |
LDLa
|
730 |
769 |
7.15e-15 |
SMART |
LDLa
|
771 |
810 |
5.26e-13 |
SMART |
LDLa
|
812 |
850 |
6.13e-14 |
SMART |
LDLa
|
852 |
890 |
6.47e-13 |
SMART |
LDLa
|
891 |
930 |
1.76e-14 |
SMART |
LDLa
|
938 |
976 |
2.29e-13 |
SMART |
LDLa
|
980 |
1019 |
3.36e-11 |
SMART |
LDLa
|
1021 |
1061 |
2.57e-7 |
SMART |
EGF
|
1061 |
1099 |
1.58e-3 |
SMART |
EGF
|
1103 |
1139 |
4.56e0 |
SMART |
LY
|
1166 |
1208 |
4.85e-4 |
SMART |
LY
|
1213 |
1255 |
6.49e-14 |
SMART |
LY
|
1256 |
1300 |
8.18e-11 |
SMART |
LY
|
1301 |
1345 |
4.25e-9 |
SMART |
LY
|
1347 |
1389 |
5.4e-2 |
SMART |
EGF
|
1416 |
1456 |
9.41e-2 |
SMART |
LY
|
1484 |
1526 |
3.03e-5 |
SMART |
LY
|
1527 |
1571 |
1.22e-9 |
SMART |
LY
|
1573 |
1611 |
1.02e-2 |
SMART |
LY
|
1612 |
1653 |
8.25e-7 |
SMART |
EGF
|
1723 |
1761 |
4.03e-1 |
SMART |
LY
|
1788 |
1830 |
1.01e-1 |
SMART |
LY
|
1831 |
1873 |
3.03e-14 |
SMART |
LY
|
1874 |
1917 |
2.16e-10 |
SMART |
LY
|
1918 |
1960 |
4.09e-11 |
SMART |
LY
|
1962 |
2004 |
9.96e0 |
SMART |
EGF
|
2032 |
2069 |
2.13e0 |
SMART |
LY
|
2147 |
2189 |
6.96e-5 |
SMART |
LY
|
2195 |
2240 |
1.07e-5 |
SMART |
LY
|
2241 |
2283 |
1.1e-11 |
SMART |
LY
|
2284 |
2325 |
4.78e-3 |
SMART |
EGF
|
2353 |
2390 |
2.03e1 |
SMART |
LDLa
|
2395 |
2435 |
1.1e-6 |
SMART |
LDLa
|
2437 |
2474 |
1.72e-8 |
SMART |
LDLa
|
2476 |
2513 |
2.45e-13 |
SMART |
LDLa
|
2524 |
2562 |
6.53e-9 |
SMART |
LDLa
|
2567 |
2604 |
7.97e-13 |
SMART |
LDLa
|
2605 |
2644 |
1.22e-8 |
SMART |
LDLa
|
2646 |
2687 |
3.07e-14 |
SMART |
LDLa
|
2690 |
2728 |
7.32e-12 |
SMART |
LDLa
|
2730 |
2772 |
1.85e-8 |
SMART |
LDLa
|
2776 |
2813 |
4.76e-11 |
SMART |
EGF_CA
|
2812 |
2853 |
1.79e-7 |
SMART |
EGF_CA
|
2854 |
2894 |
1.85e-9 |
SMART |
LY
|
2921 |
2966 |
2.58e-8 |
SMART |
LY
|
2967 |
3007 |
1.22e-9 |
SMART |
LY
|
3008 |
3051 |
8.84e-7 |
SMART |
LY
|
3052 |
3092 |
3.22e-9 |
SMART |
LY
|
3093 |
3134 |
1.04e-3 |
SMART |
EGF
|
3162 |
3200 |
7.13e-2 |
SMART |
LDLa
|
3202 |
3240 |
9.29e-14 |
SMART |
LDLa
|
3242 |
3279 |
2.25e-12 |
SMART |
LDLa
|
3281 |
3319 |
5.63e-13 |
SMART |
LDLa
|
3321 |
3357 |
5.86e-11 |
SMART |
|
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: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833439L19Rik |
A |
G |
13: 54,556,525 |
|
probably null |
Het |
Abca14 |
A |
G |
7: 120,278,087 |
N986S |
probably benign |
Het |
Adamts17 |
G |
A |
7: 67,052,011 |
G702D |
probably damaging |
Het |
Aox3 |
G |
A |
1: 58,159,658 |
V671M |
probably damaging |
Het |
Asnsd1 |
A |
T |
1: 53,348,095 |
Y124* |
probably null |
Het |
Astn2 |
A |
T |
4: 65,794,618 |
M595K |
probably benign |
Het |
Col2a1 |
T |
C |
15: 97,991,392 |
|
probably benign |
Het |
Dhrs2 |
A |
T |
14: 55,234,663 |
I4L |
probably benign |
Het |
Fbxo4 |
A |
T |
15: 3,965,755 |
L369* |
probably null |
Het |
Gpbp1 |
G |
A |
13: 111,453,050 |
R129C |
probably damaging |
Het |
Myo16 |
C |
T |
8: 10,604,877 |
T1843I |
probably damaging |
Het |
Olfr1087 |
T |
C |
2: 86,690,701 |
I91M |
possibly damaging |
Het |
Olfr342 |
T |
C |
2: 36,527,832 |
L140P |
probably damaging |
Het |
Pcdhb2 |
T |
G |
18: 37,296,303 |
V86G |
probably damaging |
Het |
Pskh1 |
T |
C |
8: 105,913,204 |
M172T |
probably damaging |
Het |
Slc38a10 |
T |
C |
11: 120,134,774 |
|
probably benign |
Het |
Spry2 |
C |
T |
14: 105,893,054 |
D233N |
probably damaging |
Het |
Tmem163 |
T |
A |
1: 127,668,720 |
R84W |
probably damaging |
Het |
Trappc11 |
T |
C |
8: 47,519,621 |
I306V |
probably benign |
Het |
Virma |
T |
C |
4: 11,526,877 |
L1092P |
probably damaging |
Het |
Vmn2r98 |
A |
G |
17: 19,066,440 |
Y400C |
probably damaging |
Het |
|
Other mutations in Lrp1b |
|
Posted On |
2014-02-04 |