Incidental Mutation 'R0016:Lrp2bp'
| ID |
8297 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrp2bp
|
| Ensembl Gene |
ENSMUSG00000031637 |
| Gene Name |
Lrp2 binding protein |
| Synonyms |
4930479L12Rik, MegBP, 1700113N17Rik |
| MMRRC Submission |
038311-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.236)
|
| Stock # |
R0016 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
46463639-46482515 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 46465068 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 62
(F62L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135210
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066451]
[ENSMUST00000110380]
[ENSMUST00000110381]
[ENSMUST00000145597]
|
| AlphaFold |
Q9D4C6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066451
AA Change: F83L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000067177
Gene: ENSMUSG00000031637
AA Change: F83L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
53 |
N/A |
INTRINSIC |
|
SEL1
|
110 |
145 |
4.45e-3 |
SMART |
|
SEL1
|
153 |
188 |
5.07e-7 |
SMART |
|
SEL1
|
193 |
226 |
6.3e-3 |
SMART |
|
SEL1
|
227 |
262 |
3.9e-8 |
SMART |
|
Blast:SEL1
|
263 |
293 |
1e-5 |
BLAST |
|
SEL1
|
317 |
352 |
7.57e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110380
AA Change: F62L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106009
Gene: ENSMUSG00000031637
AA Change: F62L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
32 |
N/A |
INTRINSIC |
|
SEL1
|
89 |
124 |
4.45e-3 |
SMART |
|
SEL1
|
132 |
167 |
5.07e-7 |
SMART |
|
SEL1
|
172 |
205 |
6.3e-3 |
SMART |
|
SEL1
|
206 |
241 |
3.9e-8 |
SMART |
|
Blast:SEL1
|
242 |
272 |
1e-5 |
BLAST |
|
SEL1
|
296 |
331 |
7.57e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110381
AA Change: F62L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106010
Gene: ENSMUSG00000031637
AA Change: F62L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
32 |
N/A |
INTRINSIC |
|
SEL1
|
89 |
124 |
4.45e-3 |
SMART |
|
SEL1
|
132 |
167 |
5.07e-7 |
SMART |
|
SEL1
|
172 |
205 |
6.3e-3 |
SMART |
|
SEL1
|
206 |
241 |
3.9e-8 |
SMART |
|
Blast:SEL1
|
242 |
272 |
1e-5 |
BLAST |
|
SEL1
|
296 |
331 |
7.57e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138230
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000145597
AA Change: F62L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135210
Gene: ENSMUSG00000031637
AA Change: F62L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
32 |
N/A |
INTRINSIC |
|
SEL1
|
89 |
124 |
4.45e-3 |
SMART |
|
SEL1
|
132 |
167 |
5.07e-7 |
SMART |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 81.7%
- 3x: 74.6%
- 10x: 53.6%
- 20x: 32.4%
|
| Validation Efficiency |
93% (85/91) |
| Allele List at MGI |
All alleles(3) : Targeted(3)
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
C |
1: 71,333,959 (GRCm39) |
V1181G |
probably benign |
Het |
| Adamts12 |
A |
T |
15: 11,217,915 (GRCm39) |
I291F |
probably damaging |
Het |
| Aspm |
G |
C |
1: 139,407,282 (GRCm39) |
Q2056H |
probably benign |
Het |
| C7 |
A |
T |
15: 5,076,406 (GRCm39) |
V122E |
probably benign |
Het |
| Casp12 |
A |
T |
9: 5,352,844 (GRCm39) |
Q152L |
probably null |
Het |
| Cpne8 |
A |
G |
15: 90,385,608 (GRCm39) |
|
probably benign |
Het |
| Cspg4b |
T |
C |
13: 113,502,639 (GRCm39) |
Y115H |
probably damaging |
Het |
| Cyp2j7 |
T |
A |
4: 96,090,384 (GRCm39) |
I347F |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,144,346 (GRCm39) |
|
probably benign |
Het |
| Echdc1 |
A |
T |
10: 29,198,417 (GRCm39) |
|
probably benign |
Het |
| Elovl3 |
T |
A |
19: 46,120,597 (GRCm39) |
F30Y |
probably damaging |
Het |
| Fgd3 |
C |
T |
13: 49,450,085 (GRCm39) |
D55N |
probably benign |
Het |
| Fhod1 |
T |
C |
8: 106,058,287 (GRCm39) |
E823G |
possibly damaging |
Het |
| Gapvd1 |
A |
G |
2: 34,589,925 (GRCm39) |
|
probably benign |
Het |
| Helz2 |
C |
A |
2: 180,874,552 (GRCm39) |
G1981C |
probably damaging |
Het |
| Kif27 |
A |
G |
13: 58,502,528 (GRCm39) |
V50A |
probably damaging |
Het |
| Marf1 |
G |
A |
16: 13,970,129 (GRCm39) |
H197Y |
probably damaging |
Het |
| Mon2 |
C |
T |
10: 122,871,451 (GRCm39) |
V389M |
probably damaging |
Het |
| Myh8 |
A |
G |
11: 67,189,351 (GRCm39) |
K1176E |
probably damaging |
Het |
| Nckap1l |
A |
G |
15: 103,384,063 (GRCm39) |
T554A |
probably benign |
Het |
| Oog3 |
A |
G |
4: 143,884,641 (GRCm39) |
Y432H |
probably damaging |
Het |
| Sorbs1 |
A |
G |
19: 40,303,182 (GRCm39) |
|
probably benign |
Het |
| Srgap2 |
A |
G |
1: 131,277,200 (GRCm39) |
M349T |
possibly damaging |
Het |
| Stc2 |
A |
T |
11: 31,310,177 (GRCm39) |
D286E |
probably benign |
Het |
| Stk31 |
T |
C |
6: 49,414,311 (GRCm39) |
Y482H |
probably damaging |
Het |
| Sycp2l |
A |
G |
13: 41,310,976 (GRCm39) |
|
probably benign |
Het |
| Tasor2 |
A |
C |
13: 3,635,170 (GRCm39) |
|
probably null |
Het |
| Trgv5 |
G |
A |
13: 19,376,889 (GRCm39) |
W112* |
probably null |
Het |
| Trim27 |
A |
T |
13: 21,375,399 (GRCm39) |
E310V |
probably benign |
Het |
| Uvrag |
T |
C |
7: 98,641,188 (GRCm39) |
K284R |
probably benign |
Het |
| Xylt2 |
A |
G |
11: 94,560,466 (GRCm39) |
S270P |
probably damaging |
Het |
| Zwint |
T |
C |
10: 72,493,030 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Lrp2bp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02152:Lrp2bp
|
APN |
8 |
46,476,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4280001:Lrp2bp
|
UTSW |
8 |
46,476,048 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0016:Lrp2bp
|
UTSW |
8 |
46,465,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0046:Lrp2bp
|
UTSW |
8 |
46,466,192 (GRCm39) |
nonsense |
probably null |
|
|
R0046:Lrp2bp
|
UTSW |
8 |
46,466,192 (GRCm39) |
nonsense |
probably null |
|
|
R0514:Lrp2bp
|
UTSW |
8 |
46,464,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0838:Lrp2bp
|
UTSW |
8 |
46,478,161 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1465:Lrp2bp
|
UTSW |
8 |
46,478,272 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1465:Lrp2bp
|
UTSW |
8 |
46,478,272 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1735:Lrp2bp
|
UTSW |
8 |
46,465,025 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1842:Lrp2bp
|
UTSW |
8 |
46,464,152 (GRCm39) |
missense |
probably benign |
|
|
R2191:Lrp2bp
|
UTSW |
8 |
46,466,206 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2192:Lrp2bp
|
UTSW |
8 |
46,466,206 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4716:Lrp2bp
|
UTSW |
8 |
46,466,208 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6722:Lrp2bp
|
UTSW |
8 |
46,473,600 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6789:Lrp2bp
|
UTSW |
8 |
46,466,151 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7643:Lrp2bp
|
UTSW |
8 |
46,473,564 (GRCm39) |
splice site |
probably null |
|
|
R8807:Lrp2bp
|
UTSW |
8 |
46,473,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9656:Lrp2bp
|
UTSW |
8 |
46,466,158 (GRCm39) |
missense |
probably benign |
0.30 |
|
| Protein Function and Prediction |
LRP2BP (alternatively, megalin-binding protein, MegBP) is a scaffold protein that has four ankyrin repeats that are proposed to link the cytoskeleton and the membranes of intracellular organelles (1). LRP2BP associates with megalin, a member of the LDL receptor gene family that functions in forebrain development and in vitamin D metabolism (2).
|
| Expression/Localization |
Human LRP2BP is expressed in the testis, small intestine, colon and blood leukocytes, and in human pancreatic adenocarcinoma cells (1). The LRP2BP protein localizes in both the cytoplasm and the nucleus (1).
|
| References |
1. Li, J., Ji, C., Zheng, H., Fei, X., Zheng, M., Dai, J., Gu, S., Xie, Y., and Mao, Y. (2005) Molecular Cloning and Characterization of a Novel Human Gene Containing 4 Ankyrin Repeat Domains. Cell Mol Biol Lett. 10, 185-193.
2. Petersen, H. H., Hilpert, J., Militz, D., Zandler, V., Jacobsen, C., Roebroek, A. J., and Willnow, T. E. (2003) Functional Interaction of Megalin with the Megalinbinding Protein (MegBP), a Novel Tetratrico Peptide Repeat-Containing Adaptor Molecule. J Cell Sci. 116, 453-461. |
| Posted On |
2012-11-21 |
| Science Writer |
Anne Murray |
Incidental Mutation