Incidental Mutation 'R2325:Lrp8'
ID |
244877 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrp8
|
Ensembl Gene |
ENSMUSG00000028613 |
Gene Name |
low density lipoprotein receptor-related protein 8, apolipoprotein e receptor |
Synonyms |
4932703M08Rik, Lr8b, apoER2 |
MMRRC Submission |
040316-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.477)
|
Stock # |
R2325 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
107659337-107734037 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 107721206 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 602
(D602V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118020
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030356]
[ENSMUST00000106732]
[ENSMUST00000106733]
[ENSMUST00000126573]
[ENSMUST00000143601]
|
AlphaFold |
Q924X6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030356
AA Change: Y804F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000030356 Gene: ENSMUSG00000028613 AA Change: Y804F
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
LDLa
|
40 |
77 |
3.24e-13 |
SMART |
EGF_like
|
79 |
117 |
3.29e1 |
SMART |
LDLa
|
79 |
118 |
2.45e-13 |
SMART |
LDLa
|
120 |
159 |
1.19e-11 |
SMART |
LDLa
|
160 |
197 |
3.52e-14 |
SMART |
LDLa
|
199 |
239 |
8.09e-14 |
SMART |
LDLa
|
250 |
288 |
4.05e-14 |
SMART |
LDLa
|
290 |
327 |
4.58e-13 |
SMART |
EGF
|
331 |
367 |
2.83e-5 |
SMART |
EGF_CA
|
368 |
407 |
9.91e-10 |
SMART |
LY
|
434 |
476 |
8.44e-4 |
SMART |
LY
|
481 |
523 |
2.29e-14 |
SMART |
LY
|
524 |
567 |
5.96e-13 |
SMART |
LY
|
568 |
610 |
4.21e-13 |
SMART |
LY
|
612 |
654 |
7.24e-3 |
SMART |
EGF
|
681 |
727 |
1.56e1 |
SMART |
low complexity region
|
729 |
745 |
N/A |
INTRINSIC |
low complexity region
|
783 |
798 |
N/A |
INTRINSIC |
transmembrane domain
|
818 |
840 |
N/A |
INTRINSIC |
low complexity region
|
863 |
869 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000106731
AA Change: Y606F
|
SMART Domains |
Protein: ENSMUSP00000102342 Gene: ENSMUSG00000028613 AA Change: Y606F
Domain | Start | End | E-Value | Type |
EGF_like
|
9 |
47 |
3.29e1 |
SMART |
LDLa
|
9 |
48 |
2.45e-13 |
SMART |
LDLa
|
50 |
89 |
1.19e-11 |
SMART |
LDLa
|
93 |
130 |
4.58e-13 |
SMART |
EGF
|
134 |
170 |
2.83e-5 |
SMART |
EGF_CA
|
171 |
210 |
9.91e-10 |
SMART |
LY
|
237 |
279 |
8.44e-4 |
SMART |
LY
|
284 |
326 |
2.29e-14 |
SMART |
LY
|
327 |
370 |
5.96e-13 |
SMART |
LY
|
371 |
413 |
4.21e-13 |
SMART |
LY
|
415 |
457 |
7.24e-3 |
SMART |
EGF
|
484 |
530 |
1.56e1 |
SMART |
low complexity region
|
532 |
548 |
N/A |
INTRINSIC |
low complexity region
|
586 |
601 |
N/A |
INTRINSIC |
transmembrane domain
|
621 |
643 |
N/A |
INTRINSIC |
low complexity region
|
666 |
672 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106732
AA Change: Y719F
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000102343 Gene: ENSMUSG00000028613 AA Change: Y719F
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
LDLa
|
40 |
77 |
3.24e-13 |
SMART |
EGF_like
|
79 |
117 |
3.29e1 |
SMART |
LDLa
|
79 |
118 |
2.45e-13 |
SMART |
LDLa
|
120 |
159 |
1.19e-11 |
SMART |
LDLa
|
164 |
201 |
4.58e-13 |
SMART |
LDLa
|
204 |
244 |
1.4e-8 |
SMART |
EGF
|
246 |
282 |
2.83e-5 |
SMART |
EGF_CA
|
283 |
322 |
9.91e-10 |
SMART |
LY
|
349 |
391 |
8.44e-4 |
SMART |
LY
|
396 |
438 |
2.29e-14 |
SMART |
LY
|
439 |
482 |
5.96e-13 |
SMART |
LY
|
483 |
525 |
4.21e-13 |
SMART |
LY
|
527 |
569 |
7.24e-3 |
SMART |
EGF
|
596 |
642 |
1.56e1 |
SMART |
low complexity region
|
644 |
660 |
N/A |
INTRINSIC |
low complexity region
|
698 |
713 |
N/A |
INTRINSIC |
transmembrane domain
|
733 |
755 |
N/A |
INTRINSIC |
low complexity region
|
778 |
784 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106733
AA Change: Y804F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000102344 Gene: ENSMUSG00000028613 AA Change: Y804F
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
LDLa
|
40 |
77 |
3.24e-13 |
SMART |
EGF_like
|
79 |
117 |
3.29e1 |
SMART |
LDLa
|
79 |
118 |
2.45e-13 |
SMART |
LDLa
|
120 |
159 |
1.19e-11 |
SMART |
LDLa
|
160 |
197 |
3.52e-14 |
SMART |
LDLa
|
199 |
239 |
8.09e-14 |
SMART |
LDLa
|
250 |
288 |
4.05e-14 |
SMART |
LDLa
|
290 |
327 |
4.58e-13 |
SMART |
EGF
|
331 |
367 |
2.83e-5 |
SMART |
EGF_CA
|
368 |
407 |
9.91e-10 |
SMART |
LY
|
434 |
476 |
8.44e-4 |
SMART |
LY
|
481 |
523 |
2.29e-14 |
SMART |
LY
|
524 |
567 |
5.96e-13 |
SMART |
LY
|
568 |
610 |
4.21e-13 |
SMART |
LY
|
612 |
654 |
7.24e-3 |
SMART |
EGF
|
681 |
727 |
1.56e1 |
SMART |
low complexity region
|
729 |
745 |
N/A |
INTRINSIC |
low complexity region
|
783 |
798 |
N/A |
INTRINSIC |
transmembrane domain
|
818 |
840 |
N/A |
INTRINSIC |
low complexity region
|
863 |
869 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123140
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126573
AA Change: D602V
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000118020 Gene: ENSMUSG00000028613 AA Change: D602V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
LDLa
|
40 |
77 |
3.24e-13 |
SMART |
EGF_like
|
79 |
117 |
3.29e1 |
SMART |
LDLa
|
79 |
118 |
2.45e-13 |
SMART |
LDLa
|
120 |
159 |
1.19e-11 |
SMART |
LDLa
|
163 |
200 |
4.58e-13 |
SMART |
EGF
|
204 |
240 |
2.83e-5 |
SMART |
EGF_CA
|
241 |
280 |
9.91e-10 |
SMART |
LY
|
307 |
349 |
8.44e-4 |
SMART |
LY
|
354 |
396 |
2.29e-14 |
SMART |
LY
|
397 |
440 |
5.96e-13 |
SMART |
LY
|
441 |
483 |
4.21e-13 |
SMART |
LY
|
485 |
527 |
7.24e-3 |
SMART |
EGF
|
554 |
600 |
1.56e1 |
SMART |
transmembrane domain
|
616 |
638 |
N/A |
INTRINSIC |
low complexity region
|
661 |
667 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143601
AA Change: Y845F
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000115854 Gene: ENSMUSG00000028613 AA Change: Y845F
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
LDLa
|
40 |
77 |
3.24e-13 |
SMART |
EGF_like
|
79 |
117 |
3.29e1 |
SMART |
LDLa
|
79 |
118 |
2.45e-13 |
SMART |
LDLa
|
120 |
159 |
1.19e-11 |
SMART |
LDLa
|
160 |
197 |
3.52e-14 |
SMART |
LDLa
|
199 |
239 |
8.09e-14 |
SMART |
LDLa
|
250 |
288 |
4.05e-14 |
SMART |
LDLa
|
290 |
327 |
4.58e-13 |
SMART |
LDLa
|
330 |
370 |
1.4e-8 |
SMART |
EGF
|
372 |
408 |
2.83e-5 |
SMART |
EGF_CA
|
409 |
448 |
9.91e-10 |
SMART |
LY
|
475 |
517 |
8.44e-4 |
SMART |
LY
|
522 |
564 |
2.29e-14 |
SMART |
LY
|
565 |
608 |
5.96e-13 |
SMART |
LY
|
609 |
651 |
4.21e-13 |
SMART |
LY
|
653 |
695 |
7.24e-3 |
SMART |
EGF
|
722 |
768 |
1.56e1 |
SMART |
low complexity region
|
770 |
786 |
N/A |
INTRINSIC |
low complexity region
|
824 |
839 |
N/A |
INTRINSIC |
transmembrane domain
|
859 |
881 |
N/A |
INTRINSIC |
low complexity region
|
904 |
910 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146552
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
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 receptor (LDLR) family. Low density lipoprotein receptors are cell surface proteins that play roles in both signal transduction and receptor-mediated endocytosis of specific ligands for lysosomal degradation. The encoded protein plays a critical role in the migration of neurons during development by mediating Reelin signaling, and also functions as a receptor for the cholesterol transport protein apolipoprotein E. Expression of this gene may be a marker for major depressive disorder. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2011] PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired granule cell migration, radial glial scaffold formation, contextual fear conditioning, and long-term potentiation. Mutant males have abnormal sperm and are sterile. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1c20 |
T |
C |
13: 4,573,295 (GRCm39) |
T7A |
probably benign |
Het |
Atoh7 |
C |
A |
10: 62,935,924 (GRCm39) |
|
probably benign |
Het |
Atp2b1 |
C |
T |
10: 98,854,757 (GRCm39) |
Q219* |
probably null |
Het |
B3galt2 |
A |
G |
1: 143,522,926 (GRCm39) |
D354G |
probably benign |
Het |
Cdh9 |
A |
G |
15: 16,778,286 (GRCm39) |
R34G |
probably benign |
Het |
Cyp4x1 |
A |
T |
4: 114,981,576 (GRCm39) |
C126S |
probably benign |
Het |
Dse |
A |
T |
10: 34,060,043 (GRCm39) |
S21T |
probably benign |
Het |
Ell2 |
T |
A |
13: 75,917,745 (GRCm39) |
H558Q |
probably damaging |
Het |
Elp1 |
A |
T |
4: 56,784,622 (GRCm39) |
M457K |
probably benign |
Het |
Esco2 |
A |
T |
14: 66,064,027 (GRCm39) |
|
probably null |
Het |
Fam170a |
A |
G |
18: 50,414,917 (GRCm39) |
K188E |
possibly damaging |
Het |
Gin1 |
A |
C |
1: 97,720,286 (GRCm39) |
Y516S |
probably damaging |
Het |
Gm8439 |
A |
G |
4: 120,446,048 (GRCm39) |
E16G |
unknown |
Het |
Gtf2b |
A |
G |
3: 142,485,851 (GRCm39) |
T176A |
probably damaging |
Het |
Kcnh6 |
C |
T |
11: 105,924,661 (GRCm39) |
S822F |
probably benign |
Het |
Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
Med12l |
A |
G |
3: 59,139,875 (GRCm39) |
T817A |
probably damaging |
Het |
Mroh9 |
A |
C |
1: 162,854,099 (GRCm39) |
|
probably null |
Het |
N4bp1 |
T |
C |
8: 87,575,088 (GRCm39) |
I736V |
probably damaging |
Het |
Nebl |
T |
C |
2: 17,397,827 (GRCm39) |
K490E |
possibly damaging |
Het |
P2ry1 |
A |
T |
3: 60,910,999 (GRCm39) |
K46M |
probably damaging |
Het |
Ppp1r37 |
A |
T |
7: 19,266,609 (GRCm39) |
L426H |
probably damaging |
Het |
Prkci |
T |
A |
3: 31,085,217 (GRCm39) |
|
probably null |
Het |
Prss35 |
G |
A |
9: 86,638,357 (GRCm39) |
G376R |
probably damaging |
Het |
Scube2 |
C |
G |
7: 109,443,161 (GRCm39) |
C226S |
probably damaging |
Het |
Slc26a5 |
T |
G |
5: 22,024,692 (GRCm39) |
Y469S |
probably damaging |
Het |
Stil |
T |
A |
4: 114,889,904 (GRCm39) |
D797E |
probably benign |
Het |
Thbs2 |
A |
T |
17: 14,910,551 (GRCm39) |
|
probably null |
Het |
Tmem132e |
C |
A |
11: 82,325,341 (GRCm39) |
L114M |
probably damaging |
Het |
Tmem161b |
C |
A |
13: 84,442,887 (GRCm39) |
T269K |
possibly damaging |
Het |
Vmn1r173 |
T |
A |
7: 23,402,537 (GRCm39) |
C257* |
probably null |
Het |
Zc3h15 |
G |
A |
2: 83,483,783 (GRCm39) |
G53S |
probably damaging |
Het |
Zfp462 |
A |
C |
4: 55,013,712 (GRCm39) |
I1893L |
probably benign |
Het |
|
Other mutations in Lrp8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01308:Lrp8
|
APN |
4 |
107,721,273 (GRCm39) |
missense |
probably benign |
0.04 |
IGL01514:Lrp8
|
APN |
4 |
107,712,881 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02058:Lrp8
|
APN |
4 |
107,727,306 (GRCm39) |
missense |
probably benign |
0.25 |
IGL02398:Lrp8
|
APN |
4 |
107,726,245 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02398:Lrp8
|
APN |
4 |
107,704,691 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02706:Lrp8
|
APN |
4 |
107,660,516 (GRCm39) |
nonsense |
probably null |
|
IGL02754:Lrp8
|
APN |
4 |
107,691,952 (GRCm39) |
splice site |
probably null |
|
IGL02967:Lrp8
|
APN |
4 |
107,718,431 (GRCm39) |
missense |
probably benign |
0.21 |
IGL03080:Lrp8
|
APN |
4 |
107,712,996 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02837:Lrp8
|
UTSW |
4 |
107,718,478 (GRCm39) |
missense |
probably benign |
0.01 |
R0312:Lrp8
|
UTSW |
4 |
107,664,052 (GRCm39) |
intron |
probably benign |
|
R0440:Lrp8
|
UTSW |
4 |
107,726,295 (GRCm39) |
missense |
probably damaging |
0.99 |
R0598:Lrp8
|
UTSW |
4 |
107,714,434 (GRCm39) |
missense |
possibly damaging |
0.73 |
R1627:Lrp8
|
UTSW |
4 |
107,711,613 (GRCm39) |
missense |
probably damaging |
0.99 |
R1967:Lrp8
|
UTSW |
4 |
107,717,168 (GRCm39) |
missense |
probably damaging |
1.00 |
R2183:Lrp8
|
UTSW |
4 |
107,660,462 (GRCm39) |
missense |
probably damaging |
1.00 |
R2208:Lrp8
|
UTSW |
4 |
107,712,987 (GRCm39) |
missense |
probably damaging |
1.00 |
R3712:Lrp8
|
UTSW |
4 |
107,705,499 (GRCm39) |
missense |
probably benign |
0.08 |
R4093:Lrp8
|
UTSW |
4 |
107,700,468 (GRCm39) |
nonsense |
probably null |
|
R4706:Lrp8
|
UTSW |
4 |
107,718,470 (GRCm39) |
missense |
probably benign |
0.00 |
R4765:Lrp8
|
UTSW |
4 |
107,711,592 (GRCm39) |
missense |
probably damaging |
1.00 |
R4840:Lrp8
|
UTSW |
4 |
107,727,234 (GRCm39) |
missense |
possibly damaging |
0.79 |
R4900:Lrp8
|
UTSW |
4 |
107,664,006 (GRCm39) |
intron |
probably benign |
|
R5033:Lrp8
|
UTSW |
4 |
107,691,952 (GRCm39) |
splice site |
probably null |
|
R5280:Lrp8
|
UTSW |
4 |
107,711,518 (GRCm39) |
missense |
probably damaging |
1.00 |
R5381:Lrp8
|
UTSW |
4 |
107,726,307 (GRCm39) |
missense |
probably damaging |
1.00 |
R5935:Lrp8
|
UTSW |
4 |
107,714,493 (GRCm39) |
missense |
probably damaging |
1.00 |
R5972:Lrp8
|
UTSW |
4 |
107,726,267 (GRCm39) |
missense |
probably damaging |
1.00 |
R6076:Lrp8
|
UTSW |
4 |
107,704,656 (GRCm39) |
missense |
possibly damaging |
0.81 |
R6343:Lrp8
|
UTSW |
4 |
107,726,353 (GRCm39) |
splice site |
probably null |
|
R6805:Lrp8
|
UTSW |
4 |
107,711,517 (GRCm39) |
missense |
probably damaging |
0.99 |
R7100:Lrp8
|
UTSW |
4 |
107,659,647 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7262:Lrp8
|
UTSW |
4 |
107,704,661 (GRCm39) |
missense |
probably benign |
|
R7717:Lrp8
|
UTSW |
4 |
107,691,940 (GRCm39) |
missense |
probably benign |
0.00 |
R7949:Lrp8
|
UTSW |
4 |
107,660,524 (GRCm39) |
missense |
probably damaging |
1.00 |
R8350:Lrp8
|
UTSW |
4 |
107,704,661 (GRCm39) |
missense |
probably benign |
|
R8371:Lrp8
|
UTSW |
4 |
107,726,268 (GRCm39) |
missense |
probably damaging |
1.00 |
R9272:Lrp8
|
UTSW |
4 |
107,717,158 (GRCm39) |
missense |
probably benign |
0.19 |
R9461:Lrp8
|
UTSW |
4 |
107,700,515 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9567:Lrp8
|
UTSW |
4 |
107,711,469 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Lrp8
|
UTSW |
4 |
107,700,529 (GRCm39) |
missense |
probably benign |
0.02 |
|
Predicted Primers |
PCR Primer
(F):5'- TAGTTTCCTGGGTGTGAAATAACC -3'
(R):5'- GTTGAAGAGAGCTGTGTGCC -3'
Sequencing Primer
(F):5'- CTGGGTGTGAAATAACCTCTGCC -3'
(R):5'- TGTGTGCCGGGCAAGAG -3'
|
Posted On |
2014-10-30 |