Incidental Mutation 'R1291:Lrp1b'
ID |
150780 |
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 |
039357-MU
|
Accession Numbers |
Genbank: NM_053011.2
|
Is this an essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1291 (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 T
at 41341895 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 1074
(S1074T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129192
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052550]
[ENSMUST00000167270]
[ENSMUST00000203080]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000052550
AA Change: S1188T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000054275 Gene: ENSMUSG00000049252 AA Change: S1188T
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 benign
Transcript: ENSMUST00000167270
AA Change: S1074T
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000129192 Gene: ENSMUSG00000049252 AA Change: S1074T
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203080
AA Change: S333T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000145278 Gene: ENSMUSG00000049252 AA Change: S333T
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
LDLa
|
31 |
70 |
1.4e-13 |
SMART |
LDLa
|
71 |
109 |
3e-16 |
SMART |
LDLa
|
111 |
149 |
3.3e-15 |
SMART |
LDLa
|
150 |
189 |
8.4e-17 |
SMART |
LDLa
|
197 |
235 |
1.1e-15 |
SMART |
LDLa
|
239 |
278 |
1.6e-13 |
SMART |
LDLa
|
280 |
320 |
1.2e-9 |
SMART |
EGF
|
320 |
358 |
7.8e-6 |
SMART |
EGF
|
362 |
398 |
2.3e-2 |
SMART |
LY
|
425 |
467 |
2.4e-6 |
SMART |
LY
|
472 |
514 |
3.3e-16 |
SMART |
LY
|
515 |
559 |
4.1e-13 |
SMART |
LY
|
560 |
604 |
2.1e-11 |
SMART |
LY
|
606 |
648 |
2.7e-4 |
SMART |
EGF
|
675 |
715 |
4.6e-4 |
SMART |
LY
|
743 |
782 |
8.1e-3 |
SMART |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.0%
|
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: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf3 |
C |
A |
5: 30,199,534 |
L301F |
probably damaging |
Het |
Apba1 |
G |
T |
19: 23,917,672 |
A491S |
probably damaging |
Het |
Bmp5 |
A |
T |
9: 75,886,673 |
K355* |
probably null |
Het |
C130060K24Rik |
T |
A |
6: 65,452,900 |
Y193* |
probably null |
Het |
C330021F23Rik |
T |
C |
8: 3,583,938 |
I13T |
probably damaging |
Het |
Chdh |
C |
T |
14: 30,031,562 |
R143* |
probably null |
Het |
Evc2 |
A |
G |
5: 37,386,815 |
E636G |
probably damaging |
Het |
Hmcn1 |
T |
A |
1: 150,748,191 |
I1120F |
probably damaging |
Het |
Lama4 |
A |
T |
10: 39,048,069 |
H491L |
probably benign |
Het |
Nell1 |
T |
C |
7: 50,230,250 |
V330A |
probably benign |
Het |
Psg20 |
T |
C |
7: 18,684,674 |
D56G |
possibly damaging |
Het |
Ptk2 |
C |
T |
15: 73,210,756 |
V951I |
probably damaging |
Het |
Rtel1 |
A |
G |
2: 181,351,043 |
D632G |
probably damaging |
Het |
Smoc1 |
T |
C |
12: 81,179,591 |
F397L |
probably damaging |
Het |
Spsb3 |
G |
T |
17: 24,887,808 |
|
probably null |
Het |
Srp68 |
A |
T |
11: 116,263,281 |
L154H |
probably damaging |
Het |
Timp3 |
A |
G |
10: 86,345,838 |
Y191C |
probably damaging |
Het |
Vmn2r50 |
T |
C |
7: 10,037,477 |
T766A |
probably damaging |
Het |
Ythdc2 |
C |
T |
18: 44,855,209 |
S28F |
probably benign |
Het |
Ywhaz |
T |
C |
15: 36,772,734 |
|
probably benign |
Het |
|
Other mutations in Lrp1b |
|
Predicted Primers |
PCR Primer
(F):5'- AACGCCCAGCCTTCATAGCAGG -3'
(R):5'- ATTTCCATGCCCTCATTGAATTAGCCA -3'
Sequencing Primer
(F):5'- TTCATAGCAGGAGCACTTGAC -3'
(R):5'- TGCATCAATGTGTTAACCCAAG -3'
|
Posted On |
2014-01-29 |