Incidental Mutation 'IGL01514:Lrp8'
| ID |
89305 |
| 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 |
Lr8b, 4932703M08Rik, apoER2 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.402)
|
| Stock # |
IGL01514
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
107802261-107876840 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 107855684 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 377
(Y377H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118020
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030356]
[ENSMUST00000106732]
[ENSMUST00000106733]
[ENSMUST00000126573]
[ENSMUST00000143601]
|
| AlphaFold |
Q924X6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030356
AA Change: Y504H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030356
Gene: ENSMUSG00000028613
AA Change: Y504H
| 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: Y306H
|
| SMART Domains |
Protein: ENSMUSP00000102342
Gene: ENSMUSG00000028613
AA Change: Y306H
| 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 damaging
Transcript: ENSMUST00000106732
AA Change: Y419H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102343
Gene: ENSMUSG00000028613
AA Change: Y419H
| 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: Y504H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102344
Gene: ENSMUSG00000028613
AA Change: Y504H
| 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 damaging
Transcript: ENSMUST00000126573
AA Change: Y377H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118020
Gene: ENSMUSG00000028613
AA Change: Y377H
| 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 damaging
Transcript: ENSMUST00000143601
AA Change: Y545H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115854
Gene: ENSMUSG00000028613
AA Change: Y545H
| 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
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Accs |
A |
G |
2: 93,839,242 |
|
probably benign |
Het |
| Actl7b |
T |
C |
4: 56,740,677 |
Y227C |
probably damaging |
Het |
| Adam26a |
A |
T |
8: 43,568,448 |
H668Q |
probably benign |
Het |
| Alcam |
A |
T |
16: 52,274,290 |
|
probably benign |
Het |
| Aldh3a2 |
C |
T |
11: 61,253,798 |
|
probably benign |
Het |
| Atp11b |
G |
T |
3: 35,836,981 |
G801V |
probably damaging |
Het |
| C3 |
G |
A |
17: 57,215,866 |
T1006I |
probably benign |
Het |
| Cacna2d4 |
T |
C |
6: 119,282,173 |
|
probably benign |
Het |
| Cldn34b3 |
A |
T |
X: 76,267,074 |
I83F |
probably damaging |
Het |
| Clec2g |
G |
A |
6: 128,948,773 |
M48I |
probably benign |
Het |
| Coch |
A |
G |
12: 51,603,353 |
D375G |
probably damaging |
Het |
| Erbb2 |
C |
T |
11: 98,432,919 |
T653I |
possibly damaging |
Het |
| Etv3 |
A |
G |
3: 87,535,718 |
H203R |
possibly damaging |
Het |
| Fat4 |
A |
G |
3: 38,949,534 |
R1801G |
possibly damaging |
Het |
| Gars |
T |
A |
6: 55,065,520 |
S413T |
probably benign |
Het |
| Gnat1 |
G |
A |
9: 107,676,301 |
R253C |
possibly damaging |
Het |
| Hook3 |
A |
T |
8: 26,088,189 |
L91I |
possibly damaging |
Het |
| Lztr1 |
G |
A |
16: 17,522,391 |
|
probably null |
Het |
| Malt1 |
A |
G |
18: 65,476,400 |
D825G |
possibly damaging |
Het |
| Nlrp9b |
T |
C |
7: 20,045,934 |
|
probably null |
Het |
| Olfr1396 |
A |
T |
11: 49,113,576 |
I50N |
probably damaging |
Het |
| Olfr54 |
C |
T |
11: 51,027,589 |
R196* |
probably null |
Het |
| Orc1 |
A |
G |
4: 108,602,052 |
R473G |
probably damaging |
Het |
| Pard6g |
G |
A |
18: 80,117,446 |
R258H |
probably damaging |
Het |
| Pkdrej |
T |
C |
15: 85,818,063 |
D1224G |
possibly damaging |
Het |
| Polr1e |
A |
G |
4: 45,018,723 |
T18A |
probably benign |
Het |
| Pycrl |
T |
C |
15: 75,917,004 |
T240A |
probably damaging |
Het |
| Ralgapa1 |
C |
A |
12: 55,719,657 |
G1284V |
probably damaging |
Het |
| Rcl1 |
T |
C |
19: 29,143,298 |
|
probably benign |
Het |
| Sec24c |
C |
T |
14: 20,682,771 |
T134I |
possibly damaging |
Het |
| Sis |
A |
G |
3: 72,935,920 |
|
probably benign |
Het |
| Susd5 |
A |
C |
9: 114,068,879 |
|
probably benign |
Het |
| Tlk1 |
T |
C |
2: 70,752,266 |
N173S |
probably benign |
Het |
| Uroc1 |
T |
C |
6: 90,363,100 |
|
probably benign |
Het |
|
| Other mutations in Lrp8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01308:Lrp8
|
APN |
4 |
107864076 |
missense |
probably benign |
0.04 |
|
IGL02058:Lrp8
|
APN |
4 |
107870109 |
missense |
probably benign |
0.25 |
|
IGL02398:Lrp8
|
APN |
4 |
107847494 |
missense |
probably damaging |
0.97 |
|
IGL02398:Lrp8
|
APN |
4 |
107869048 |
missense |
probably damaging |
1.00 |
|
IGL02706:Lrp8
|
APN |
4 |
107803319 |
nonsense |
probably null |
|
|
IGL02754:Lrp8
|
APN |
4 |
107834755 |
splice site |
probably null |
|
|
IGL02967:Lrp8
|
APN |
4 |
107861234 |
missense |
probably benign |
0.21 |
|
IGL03080:Lrp8
|
APN |
4 |
107855799 |
missense |
probably damaging |
1.00 |
|
IGL02837:Lrp8
|
UTSW |
4 |
107861281 |
missense |
probably benign |
0.01 |
|
R0312:Lrp8
|
UTSW |
4 |
107806855 |
intron |
probably benign |
|
|
R0440:Lrp8
|
UTSW |
4 |
107869098 |
missense |
probably damaging |
0.99 |
|
R0598:Lrp8
|
UTSW |
4 |
107857237 |
missense |
possibly damaging |
0.73 |
|
R1627:Lrp8
|
UTSW |
4 |
107854416 |
missense |
probably damaging |
0.99 |
|
R1967:Lrp8
|
UTSW |
4 |
107859971 |
missense |
probably damaging |
1.00 |
|
R2183:Lrp8
|
UTSW |
4 |
107803265 |
missense |
probably damaging |
1.00 |
|
R2208:Lrp8
|
UTSW |
4 |
107855790 |
missense |
probably damaging |
1.00 |
|
R2325:Lrp8
|
UTSW |
4 |
107864009 |
missense |
probably benign |
0.03 |
|
R3712:Lrp8
|
UTSW |
4 |
107848302 |
missense |
probably benign |
0.08 |
|
R4093:Lrp8
|
UTSW |
4 |
107843271 |
nonsense |
probably null |
|
|
R4706:Lrp8
|
UTSW |
4 |
107861273 |
missense |
probably benign |
0.00 |
|
R4765:Lrp8
|
UTSW |
4 |
107854395 |
missense |
probably damaging |
1.00 |
|
R4840:Lrp8
|
UTSW |
4 |
107870037 |
missense |
possibly damaging |
0.79 |
|
R4900:Lrp8
|
UTSW |
4 |
107806809 |
intron |
probably benign |
|
|
R5033:Lrp8
|
UTSW |
4 |
107834755 |
splice site |
probably null |
|
|
R5280:Lrp8
|
UTSW |
4 |
107854321 |
missense |
probably damaging |
1.00 |
|
R5381:Lrp8
|
UTSW |
4 |
107869110 |
missense |
probably damaging |
1.00 |
|
R5935:Lrp8
|
UTSW |
4 |
107857296 |
missense |
probably damaging |
1.00 |
|
R5972:Lrp8
|
UTSW |
4 |
107869070 |
missense |
probably damaging |
1.00 |
|
R6076:Lrp8
|
UTSW |
4 |
107847459 |
missense |
possibly damaging |
0.81 |
|
R6343:Lrp8
|
UTSW |
4 |
107869156 |
splice site |
probably null |
|
|
R6805:Lrp8
|
UTSW |
4 |
107854320 |
missense |
probably damaging |
0.99 |
|
R7100:Lrp8
|
UTSW |
4 |
107802450 |
missense |
possibly damaging |
0.93 |
|
R7262:Lrp8
|
UTSW |
4 |
107847464 |
missense |
probably benign |
|
|
R7717:Lrp8
|
UTSW |
4 |
107834743 |
missense |
probably benign |
0.00 |
|
R7949:Lrp8
|
UTSW |
4 |
107803327 |
missense |
probably damaging |
1.00 |
|
R8350:Lrp8
|
UTSW |
4 |
107847464 |
missense |
probably benign |
|
|
R8371:Lrp8
|
UTSW |
4 |
107869071 |
missense |
probably damaging |
1.00 |
|
R9272:Lrp8
|
UTSW |
4 |
107859961 |
missense |
probably benign |
0.19 |
|
R9461:Lrp8
|
UTSW |
4 |
107843318 |
missense |
possibly damaging |
0.93 |
|
R9567:Lrp8
|
UTSW |
4 |
107854272 |
missense |
probably damaging |
0.99 |
|
Z1177:Lrp8
|
UTSW |
4 |
107843332 |
missense |
probably benign |
0.02 |
|
| Posted On |
2013-12-03 |
Incidental Mutation