Incidental Mutation 'R2183:Lrp8'
| ID |
237282 |
| 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 |
040185-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.477)
|
| Stock # |
R2183 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
107659337-107734037 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 107660462 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 41
(C41R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115854
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030356]
[ENSMUST00000106732]
[ENSMUST00000106733]
[ENSMUST00000126573]
[ENSMUST00000143601]
|
| AlphaFold |
Q924X6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030356
AA Change: C41R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030356
Gene: ENSMUSG00000028613
AA Change: C41R
| 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: ENSMUST00000097930
|
| SMART Domains |
Protein: ENSMUSP00000095543
Gene: ENSMUSG00000073779
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
61 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
119 |
128 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106732
AA Change: C41R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102343
Gene: ENSMUSG00000028613
AA Change: C41R
| 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: C41R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102344
Gene: ENSMUSG00000028613
AA Change: C41R
| 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: ENSMUST00000125464
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126573
AA Change: C41R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118020
Gene: ENSMUSG00000028613
AA Change: C41R
| 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: ENSMUST00000138289
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000143601
AA Change: C41R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115854
Gene: ENSMUSG00000028613
AA Change: C41R
| 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: ENSMUST00000188737
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146552
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147319
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atf7 |
T |
C |
15: 102,454,908 (GRCm39) |
T287A |
possibly damaging |
Het |
| Atg9b |
C |
T |
5: 24,595,491 (GRCm39) |
A263T |
probably benign |
Het |
| Cc2d1a |
A |
T |
8: 84,867,028 (GRCm39) |
H371Q |
probably damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,875,581 (GRCm39) |
N537S |
possibly damaging |
Het |
| Cdc6 |
A |
T |
11: 98,799,524 (GRCm39) |
K17* |
probably null |
Het |
| Cemip2 |
G |
A |
19: 21,801,157 (GRCm39) |
R758Q |
possibly damaging |
Het |
| Cenpk |
T |
C |
13: 104,370,671 (GRCm39) |
M64T |
probably damaging |
Het |
| Dhx57 |
T |
A |
17: 80,582,760 (GRCm39) |
T282S |
probably benign |
Het |
| Frem1 |
G |
A |
4: 82,909,732 (GRCm39) |
T757I |
probably benign |
Het |
| Gcsh |
A |
T |
8: 117,715,885 (GRCm39) |
V66E |
probably damaging |
Het |
| Gdpd1 |
T |
C |
11: 86,926,102 (GRCm39) |
N281S |
probably damaging |
Het |
| Hs1bp3 |
T |
C |
12: 8,371,610 (GRCm39) |
V97A |
possibly damaging |
Het |
| Ipo11 |
T |
C |
13: 107,061,595 (GRCm39) |
T22A |
probably benign |
Het |
| Irag1 |
A |
T |
7: 110,498,189 (GRCm39) |
L402Q |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,098,004 (GRCm39) |
N1795D |
probably damaging |
Het |
| Larp4 |
T |
C |
15: 99,909,778 (GRCm39) |
V627A |
probably benign |
Het |
| Mroh2b |
T |
A |
15: 4,947,707 (GRCm39) |
|
probably null |
Het |
| Nebl |
T |
C |
2: 17,409,027 (GRCm39) |
D357G |
probably damaging |
Het |
| Nrg2 |
T |
C |
18: 36,329,804 (GRCm39) |
K137R |
probably benign |
Het |
| Or14c43 |
T |
A |
7: 86,115,594 (GRCm39) |
V325E |
probably benign |
Het |
| Or1j14 |
C |
T |
2: 36,417,723 (GRCm39) |
Q100* |
probably null |
Het |
| Or5t7 |
A |
T |
2: 86,507,380 (GRCm39) |
M99K |
probably benign |
Het |
| Phc1 |
C |
A |
6: 122,300,284 (GRCm39) |
V487L |
probably damaging |
Het |
| Piezo2 |
A |
G |
18: 63,239,345 (GRCm39) |
V745A |
probably damaging |
Het |
| Proca1 |
A |
T |
11: 78,094,975 (GRCm39) |
H83L |
possibly damaging |
Het |
| Prpf4 |
G |
A |
4: 62,330,046 (GRCm39) |
V107I |
probably damaging |
Het |
| Ptprz1 |
G |
A |
6: 23,002,284 (GRCm39) |
R1458Q |
probably benign |
Het |
| Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
| Rbsn |
C |
A |
6: 92,166,618 (GRCm39) |
L675F |
probably benign |
Het |
| Recql5 |
T |
C |
11: 115,787,613 (GRCm39) |
S514G |
probably benign |
Het |
| Scai |
G |
A |
2: 38,970,138 (GRCm39) |
T542I |
probably benign |
Het |
| Sftpa1 |
G |
T |
14: 40,854,823 (GRCm39) |
D73Y |
probably damaging |
Het |
| Sgms2 |
A |
C |
3: 131,129,934 (GRCm39) |
|
probably null |
Het |
| Spart |
A |
G |
3: 55,024,554 (GRCm39) |
I50V |
probably benign |
Het |
| Spata7 |
A |
T |
12: 98,603,871 (GRCm39) |
K47N |
probably damaging |
Het |
| Tbx18 |
T |
A |
9: 87,587,789 (GRCm39) |
T443S |
probably damaging |
Het |
| Tmem130 |
T |
C |
5: 144,692,242 (GRCm39) |
D54G |
possibly damaging |
Het |
| Tnip2 |
TCTCCT |
TCT |
5: 34,656,957 (GRCm39) |
|
probably benign |
Het |
| Trp53rkb |
G |
T |
2: 166,635,877 (GRCm39) |
V73L |
possibly damaging |
Het |
| Wwc2 |
A |
T |
8: 48,295,961 (GRCm39) |
L1103H |
unknown |
Het |
| Yes1 |
T |
A |
5: 32,802,370 (GRCm39) |
V95E |
probably damaging |
Het |
| Zfp971 |
T |
A |
2: 177,675,533 (GRCm39) |
H377Q |
probably damaging |
Het |
| Zzef1 |
C |
T |
11: 72,777,544 (GRCm39) |
R1792* |
probably null |
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 |
|
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'- GCATCCTGTCCTTTCTCGGAATTAAG -3'
(R):5'- GGGCTAGTAGCTTCAGCAAG -3'
Sequencing Primer
(F):5'- CGGAATTAAGGTGCTTGGAGATCC -3'
(R):5'- AGCAGTCGTTGTCCTCA -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation