Incidental Mutation 'IGL02398:Lrp8'
ID |
291749 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lrp8
|
Ensembl Gene |
ENSMUSG00000028613 |
Gene Name |
low density lipoprotein receptor-related protein 8, apolipoprotein e receptor |
Synonyms |
4932703M08Rik, Lr8b, apoER2 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.477)
|
Stock # |
IGL02398
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
107659337-107734037 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 107704691 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Phenylalanine
at position 304
(V304F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102344
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030356]
[ENSMUST00000106732]
[ENSMUST00000106733]
[ENSMUST00000126573]
[ENSMUST00000143601]
|
AlphaFold |
Q924X6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030356
AA Change: V304F
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000030356 Gene: ENSMUSG00000028613 AA Change: V304F
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: V106F
|
SMART Domains |
Protein: ENSMUSP00000102342 Gene: ENSMUSG00000028613 AA Change: V106F
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: V178F
PolyPhen 2
Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000102343 Gene: ENSMUSG00000028613 AA Change: V178F
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 damaging
Transcript: ENSMUST00000106733
AA Change: V304F
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000102344 Gene: ENSMUSG00000028613 AA Change: V304F
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 |
possibly damaging
Transcript: ENSMUST00000126573
AA Change: V177F
PolyPhen 2
Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000118020 Gene: ENSMUSG00000028613 AA Change: V177F
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 |
possibly damaging
Transcript: ENSMUST00000143601
AA Change: V304F
PolyPhen 2
Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000115854 Gene: ENSMUSG00000028613 AA Change: V304F
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: ENSMUST00000135022
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135591
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146552
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147319
|
Coding Region Coverage |
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgre1 |
T |
A |
17: 57,709,824 (GRCm39) |
C160* |
probably null |
Het |
Alkbh8 |
C |
T |
9: 3,345,870 (GRCm39) |
P197S |
possibly damaging |
Het |
Ankef1 |
A |
C |
2: 136,397,702 (GRCm39) |
N761T |
probably damaging |
Het |
Ankrd7 |
A |
G |
6: 18,866,696 (GRCm39) |
Y72C |
probably damaging |
Het |
Cfap36 |
T |
G |
11: 29,172,833 (GRCm39) |
M231L |
probably benign |
Het |
Cog7 |
A |
G |
7: 121,563,432 (GRCm39) |
C227R |
probably damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Cspg4 |
A |
T |
9: 56,793,970 (GRCm39) |
E568D |
probably benign |
Het |
Cwc27 |
G |
A |
13: 104,940,762 (GRCm39) |
T199I |
possibly damaging |
Het |
Cyp26a1 |
A |
G |
19: 37,688,467 (GRCm39) |
I330V |
probably benign |
Het |
Dcaf7 |
T |
C |
11: 105,944,579 (GRCm39) |
V254A |
probably benign |
Het |
Dhrs7 |
G |
A |
12: 72,711,466 (GRCm39) |
R24C |
probably damaging |
Het |
Ehmt2 |
T |
A |
17: 35,127,455 (GRCm39) |
C838S |
probably damaging |
Het |
Fn1 |
A |
T |
1: 71,657,829 (GRCm39) |
|
probably null |
Het |
Gjb3 |
T |
A |
4: 127,219,855 (GRCm39) |
S226C |
probably benign |
Het |
Gm14496 |
A |
G |
2: 181,637,963 (GRCm39) |
I346V |
probably benign |
Het |
Gm8050 |
T |
C |
14: 17,930,894 (GRCm39) |
E172G |
probably damaging |
Het |
Higd1a |
G |
A |
9: 121,681,590 (GRCm39) |
R22W |
probably damaging |
Het |
Hmcn1 |
A |
G |
1: 150,678,648 (GRCm39) |
L491S |
possibly damaging |
Het |
Igsf9b |
T |
C |
9: 27,244,426 (GRCm39) |
S794P |
possibly damaging |
Het |
Irgm2 |
A |
T |
11: 58,110,755 (GRCm39) |
I161F |
probably damaging |
Het |
Lrrc9 |
A |
T |
12: 72,513,677 (GRCm39) |
M513L |
probably benign |
Het |
Myo18b |
A |
T |
5: 112,978,178 (GRCm39) |
V1248E |
possibly damaging |
Het |
Myo1b |
A |
T |
1: 51,797,050 (GRCm39) |
N945K |
probably damaging |
Het |
Nipbl |
A |
G |
15: 8,356,574 (GRCm39) |
L1604P |
probably damaging |
Het |
Oas1f |
A |
T |
5: 120,989,568 (GRCm39) |
Y169F |
probably benign |
Het |
Ogfod3 |
G |
A |
11: 121,093,851 (GRCm39) |
T53I |
probably benign |
Het |
Or2a56 |
A |
T |
6: 42,933,046 (GRCm39) |
I205F |
probably benign |
Het |
Or52r1c |
G |
A |
7: 102,735,313 (GRCm39) |
C191Y |
probably damaging |
Het |
Or8k22 |
A |
T |
2: 86,162,868 (GRCm39) |
Y277* |
probably null |
Het |
Parp8 |
A |
G |
13: 117,047,399 (GRCm39) |
|
probably null |
Het |
Pde4dip |
T |
C |
3: 97,674,097 (GRCm39) |
Y273C |
probably benign |
Het |
Pgbd5 |
C |
T |
8: 125,111,257 (GRCm39) |
A54T |
probably damaging |
Het |
Pglyrp4 |
G |
A |
3: 90,646,424 (GRCm39) |
|
probably benign |
Het |
Piezo1 |
A |
T |
8: 123,213,302 (GRCm39) |
S1819R |
probably benign |
Het |
Polr1a |
T |
C |
6: 71,913,540 (GRCm39) |
|
probably benign |
Het |
Polr1b |
A |
G |
2: 128,944,886 (GRCm39) |
I61V |
probably benign |
Het |
Prlhr |
G |
T |
19: 60,455,753 (GRCm39) |
A271E |
probably damaging |
Het |
Rad23b |
C |
T |
4: 55,350,360 (GRCm39) |
|
probably benign |
Het |
Rad51ap1 |
A |
T |
6: 126,905,114 (GRCm39) |
S132R |
probably damaging |
Het |
Ros1 |
T |
A |
10: 52,020,980 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
T |
C |
2: 112,677,767 (GRCm39) |
D1327G |
probably benign |
Het |
Slit1 |
A |
C |
19: 41,590,676 (GRCm39) |
V1332G |
probably damaging |
Het |
Spin2h |
A |
G |
X: 32,162,153 (GRCm39) |
D224G |
probably damaging |
Het |
Tmem178b |
A |
G |
6: 40,184,461 (GRCm39) |
M120V |
probably damaging |
Het |
Trim25 |
T |
C |
11: 88,890,630 (GRCm39) |
C106R |
probably damaging |
Het |
Trim35 |
A |
G |
14: 66,546,697 (GRCm39) |
Y488C |
probably damaging |
Het |
Tsc2 |
A |
T |
17: 24,840,703 (GRCm39) |
H326Q |
probably damaging |
Het |
Yap1 |
A |
T |
9: 7,950,536 (GRCm39) |
I315K |
probably benign |
Het |
Zfp654 |
A |
G |
16: 64,606,381 (GRCm39) |
V607A |
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 |
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 |
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 |
|
Posted On |
2015-04-16 |