Incidental Mutation 'R0598:Lrp8'
| ID |
55159 |
| 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 |
038787-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.477)
|
| Stock # |
R0598 (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 C
at 107714434 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 603
(I603L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102344
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030356]
[ENSMUST00000106732]
[ENSMUST00000106733]
[ENSMUST00000126573]
[ENSMUST00000143601]
|
| AlphaFold |
Q924X6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030356
AA Change: I603L
PolyPhen 2
Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000030356
Gene: ENSMUSG00000028613
AA Change: I603L
| 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: I405L
|
| SMART Domains |
Protein: ENSMUSP00000102342
Gene: ENSMUSG00000028613
AA Change: I405L
| 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 |
possibly damaging
Transcript: ENSMUST00000106732
AA Change: I518L
PolyPhen 2
Score 0.589 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000102343
Gene: ENSMUSG00000028613
AA Change: I518L
| 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 |
possibly damaging
Transcript: ENSMUST00000106733
AA Change: I603L
PolyPhen 2
Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000102344
Gene: ENSMUSG00000028613
AA Change: I603L
| 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: I476L
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000118020
Gene: ENSMUSG00000028613
AA Change: I476L
| 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 |
noncoding transcript
Transcript: ENSMUST00000135022
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143601
AA Change: I644L
PolyPhen 2
Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000115854
Gene: ENSMUSG00000028613
AA Change: I644L
| 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: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.5%
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427I04Rik |
A |
T |
4: 123,754,681 (GRCm39) |
E198D |
possibly damaging |
Het |
| Abca6 |
A |
T |
11: 110,087,980 (GRCm39) |
I1049N |
probably damaging |
Het |
| Acly |
A |
T |
11: 100,369,216 (GRCm39) |
N1014K |
probably damaging |
Het |
| Aoc1l1 |
A |
G |
6: 48,952,471 (GRCm39) |
E132G |
probably benign |
Het |
| Aph1c |
A |
T |
9: 66,740,601 (GRCm39) |
W42R |
probably damaging |
Het |
| Bptf |
G |
T |
11: 106,963,791 (GRCm39) |
T1738K |
probably damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,874,552 (GRCm39) |
I875F |
probably damaging |
Het |
| Cpt2 |
G |
T |
4: 107,764,135 (GRCm39) |
T543N |
probably damaging |
Het |
| Cstdc7 |
T |
A |
18: 42,306,436 (GRCm39) |
M1K |
probably null |
Het |
| Dnah9 |
T |
C |
11: 66,009,703 (GRCm39) |
E728G |
probably benign |
Het |
| Itgbl1 |
A |
G |
14: 124,094,848 (GRCm39) |
H167R |
possibly damaging |
Het |
| Kctd1 |
A |
G |
18: 15,140,822 (GRCm39) |
V40A |
probably damaging |
Het |
| L3mbtl4 |
T |
G |
17: 68,766,768 (GRCm39) |
D158E |
probably benign |
Het |
| Lypd8l |
G |
A |
11: 58,499,230 (GRCm39) |
S196L |
probably benign |
Het |
| Mrps9 |
C |
T |
1: 42,944,577 (GRCm39) |
T365I |
probably damaging |
Het |
| Or1a1 |
A |
T |
11: 74,086,658 (GRCm39) |
T110S |
possibly damaging |
Het |
| Or1e1 |
G |
T |
11: 73,244,729 (GRCm39) |
R50L |
probably benign |
Het |
| Or2y1d |
A |
G |
11: 49,322,230 (GRCm39) |
D309G |
probably benign |
Het |
| Padi1 |
C |
A |
4: 140,542,098 (GRCm39) |
R608L |
possibly damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,271,114 (GRCm39) |
F3146L |
probably damaging |
Het |
| Rnf145 |
T |
C |
11: 44,439,770 (GRCm39) |
S189P |
probably damaging |
Het |
| Sez6 |
G |
T |
11: 77,868,647 (GRCm39) |
D974Y |
possibly damaging |
Het |
| St3gal3 |
A |
T |
4: 117,964,829 (GRCm39) |
L11Q |
probably benign |
Het |
| Syt14 |
T |
C |
1: 192,579,622 (GRCm39) |
E554G |
probably damaging |
Het |
| Tectb |
G |
T |
19: 55,178,018 (GRCm39) |
E170* |
probably null |
Het |
| Themis2 |
A |
T |
4: 132,516,994 (GRCm39) |
C169S |
possibly damaging |
Het |
| Tmem88b |
A |
T |
4: 155,868,824 (GRCm39) |
D141E |
probably benign |
Het |
| Uaca |
T |
A |
9: 60,778,203 (GRCm39) |
Y685* |
probably null |
Het |
| Vsnl1 |
T |
C |
12: 11,436,860 (GRCm39) |
S40G |
probably benign |
Het |
| Vxn |
T |
G |
1: 9,690,067 (GRCm39) |
I98S |
probably benign |
Het |
| Wdr64 |
A |
T |
1: 175,633,465 (GRCm39) |
Q905H |
probably damaging |
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 |
|
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 |
|
R2325:Lrp8
|
UTSW |
4 |
107,721,206 (GRCm39) |
missense |
probably benign |
0.03 |
|
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'- GATCCTGACAGCTTAACATCGCCC -3'
(R):5'- TGGAGGCTGCTCTTGGAGTCTATAC -3'
Sequencing Primer
(F):5'- CATGGTCTTGAGTCAGAGTCCC -3'
(R):5'- GCTCTTGGAGTCTATACAAACCTG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation