Incidental Mutation 'R1415:Lrp1b'
ID |
159764 |
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 |
039471-MU
|
Accession Numbers |
Genbank: NM_053011.2
|
Is this an essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1415 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
40595246-42653624 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 40629664 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 137
(Y137C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145066
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052550]
[ENSMUST00000185258]
[ENSMUST00000203015]
|
AlphaFold |
no structure available at present |
Predicted Effect |
unknown
Transcript: ENSMUST00000052550
AA Change: Y4397C
|
SMART Domains |
Protein: ENSMUSP00000054275 Gene: ENSMUSG00000049252 AA Change: Y4397C
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 |
unknown
Transcript: ENSMUST00000142546
AA Change: Y628C
|
SMART Domains |
Protein: ENSMUSP00000117212 Gene: ENSMUSG00000049252 AA Change: Y628C
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 benign
Transcript: ENSMUST00000185258
|
SMART Domains |
Protein: ENSMUSP00000139874 Gene: ENSMUSG00000049252
Domain | Start | End | E-Value | Type |
transmembrane domain
|
35 |
57 |
N/A |
INTRINSIC |
low complexity region
|
59 |
69 |
N/A |
INTRINSIC |
low complexity region
|
72 |
83 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000203015
AA Change: Y137C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000145066 Gene: ENSMUSG00000049252 AA Change: Y137C
Domain | Start | End | E-Value | Type |
Pfam:hEGF
|
12 |
24 |
1.6e-3 |
PFAM |
EGF
|
28 |
61 |
8.3e-6 |
SMART |
EGF
|
64 |
97 |
5.8e-2 |
SMART |
EGF_like
|
100 |
132 |
3.3e-1 |
SMART |
EGF
|
133 |
167 |
6.4e-3 |
SMART |
EGF
|
172 |
205 |
1.9e-4 |
SMART |
transmembrane domain
|
223 |
245 |
N/A |
INTRINSIC |
low complexity region
|
246 |
256 |
N/A |
INTRINSIC |
low complexity region
|
259 |
270 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.6%
|
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
T |
C |
5: 114,165,921 |
V135A |
probably benign |
Het |
Adam21 |
C |
T |
12: 81,559,547 |
W480* |
probably null |
Het |
Ccdc71 |
T |
A |
9: 108,463,208 |
Y73* |
probably null |
Het |
Cfap44 |
T |
A |
16: 44,481,389 |
I1830N |
probably damaging |
Het |
Dnajb11 |
T |
C |
16: 22,870,621 |
V264A |
probably benign |
Het |
Fam135b |
T |
C |
15: 71,456,928 |
E1174G |
probably damaging |
Het |
Fam83e |
G |
A |
7: 45,726,711 |
E283K |
probably damaging |
Het |
Gigyf1 |
A |
G |
5: 137,519,216 |
|
probably null |
Het |
Gm38394 |
C |
T |
1: 133,657,818 |
V594M |
possibly damaging |
Het |
Letm1 |
A |
T |
5: 33,769,562 |
N130K |
probably benign |
Het |
Map3k2 |
A |
G |
18: 32,228,277 |
I597V |
possibly damaging |
Het |
Nek1 |
A |
G |
8: 61,089,686 |
E770G |
probably benign |
Het |
Olfr462 |
A |
C |
11: 87,889,647 |
V83G |
possibly damaging |
Het |
Olfr667 |
A |
G |
7: 104,916,336 |
I320T |
probably benign |
Het |
Pank2 |
T |
A |
2: 131,282,718 |
Y68* |
probably null |
Het |
Prl2c2 |
G |
C |
13: 13,002,201 |
T47R |
probably damaging |
Het |
Secisbp2l |
C |
A |
2: 125,740,365 |
G1057V |
probably benign |
Het |
Slc30a2 |
C |
T |
4: 134,349,349 |
T265M |
probably damaging |
Het |
Smarca2 |
A |
G |
19: 26,710,684 |
E1239G |
probably null |
Het |
Snx30 |
C |
T |
4: 59,879,261 |
R167C |
probably damaging |
Het |
Tmem26 |
T |
C |
10: 68,778,661 |
F302S |
possibly damaging |
Het |
Tpgs2 |
A |
G |
18: 25,168,553 |
L19S |
probably damaging |
Het |
Trp53bp1 |
T |
G |
2: 121,236,184 |
E687A |
probably damaging |
Het |
Ttc27 |
C |
T |
17: 74,739,672 |
H243Y |
probably benign |
Het |
Wdfy4 |
A |
T |
14: 33,041,180 |
V2318D |
possibly damaging |
Het |
Wdr59 |
G |
A |
8: 111,498,596 |
P141S |
probably damaging |
Het |
Zfp787 |
C |
A |
7: 6,132,695 |
G186C |
probably damaging |
Het |
|
Other mutations in Lrp1b |
|
Predicted Primers |
PCR Primer
(F):5'- ACACACTCACTTAGGAGTATTGCCCC -3'
(R):5'- TTGTCCTGTGGCTTATAACTCACACTG -3'
Sequencing Primer
(F):5'- TTAGGAGTATTGCCCCTCCAAAAG -3'
(R):5'- CCTCCTAGCATGTAGGTGATAGAC -3'
|
Posted On |
2014-03-14 |