Incidental Mutation 'R7717:Lrp8'
| ID |
594964 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.477)
|
| Stock # |
R7717 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
107659337-107734037 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 107691940 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 115
(T115A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102343
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030356]
[ENSMUST00000106732]
[ENSMUST00000106733]
[ENSMUST00000126573]
[ENSMUST00000143601]
|
| AlphaFold |
Q924X6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030356
AA Change: T115A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000030356
Gene: ENSMUSG00000028613
AA Change: T115A
| 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 |
probably benign
Transcript: ENSMUST00000106731
AA Change: T44A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000102342
Gene: ENSMUSG00000028613
AA Change: T44A
| 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: T115A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000102343
Gene: ENSMUSG00000028613
AA Change: T115A
| 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: T115A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000102344
Gene: ENSMUSG00000028613
AA Change: T115A
| 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 |
probably benign
Transcript: ENSMUST00000126573
AA Change: T115A
PolyPhen 2
Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000118020
Gene: ENSMUSG00000028613
AA Change: T115A
| 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: T115A
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000115854
Gene: ENSMUSG00000028613
AA Change: T115A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf5 |
T |
C |
17: 43,761,644 (GRCm39) |
L1113P |
probably damaging |
Het |
| Aldh3b3 |
T |
C |
19: 4,013,970 (GRCm39) |
L57P |
probably damaging |
Het |
| Asb15 |
A |
G |
6: 24,559,251 (GRCm39) |
D132G |
probably benign |
Het |
| Cep290 |
C |
T |
10: 100,328,543 (GRCm39) |
R111W |
probably benign |
Het |
| Cfap44 |
A |
G |
16: 44,250,298 (GRCm39) |
D792G |
probably damaging |
Het |
| Col20a1 |
C |
T |
2: 180,649,408 (GRCm39) |
R1029W |
probably damaging |
Het |
| Csf3r |
A |
G |
4: 125,931,403 (GRCm39) |
Y462C |
probably damaging |
Het |
| Cthrc1 |
T |
C |
15: 38,940,511 (GRCm39) |
V38A |
probably benign |
Het |
| Cxcr2 |
T |
C |
1: 74,197,998 (GRCm39) |
V164A |
probably benign |
Het |
| Efr3b |
A |
G |
12: 4,034,574 (GRCm39) |
S199P |
probably damaging |
Het |
| Elavl4 |
A |
G |
4: 110,063,663 (GRCm39) |
C342R |
probably damaging |
Het |
| Gemin5 |
A |
T |
11: 58,042,356 (GRCm39) |
|
probably null |
Het |
| Gm14190 |
A |
T |
11: 99,581,476 (GRCm39) |
C31S |
unknown |
Het |
| Golt1b |
T |
A |
6: 142,339,769 (GRCm39) |
V78D |
probably damaging |
Het |
| Gsdmc3 |
T |
A |
15: 63,741,061 (GRCm39) |
D29V |
probably damaging |
Het |
| Itih1 |
T |
A |
14: 30,653,142 (GRCm39) |
D766V |
probably damaging |
Het |
| Larp1b |
C |
T |
3: 40,926,879 (GRCm39) |
S251F |
probably damaging |
Het |
| Lrrc37a |
A |
G |
11: 103,395,126 (GRCm39) |
S100P |
probably benign |
Het |
| Lss |
T |
C |
10: 76,381,286 (GRCm39) |
V424A |
possibly damaging |
Het |
| Ltbp1 |
T |
C |
17: 75,597,073 (GRCm39) |
V568A |
possibly damaging |
Het |
| Myo10 |
A |
T |
15: 25,732,056 (GRCm39) |
T311S |
probably benign |
Het |
| Nsd3 |
T |
C |
8: 26,172,578 (GRCm39) |
V779A |
probably benign |
Het |
| Or10ak12 |
A |
T |
4: 118,666,130 (GRCm39) |
S310R |
probably damaging |
Het |
| Or11h23 |
T |
A |
14: 50,948,219 (GRCm39) |
L144Q |
probably damaging |
Het |
| Or2ag16 |
A |
G |
7: 106,351,843 (GRCm39) |
W251R |
possibly damaging |
Het |
| Or2n1e |
C |
A |
17: 38,586,471 (GRCm39) |
Q270K |
probably damaging |
Het |
| Or51v8 |
T |
C |
7: 103,320,152 (GRCm39) |
T29A |
probably benign |
Het |
| Or5b21 |
A |
T |
19: 12,839,159 (GRCm39) |
I7F |
probably benign |
Het |
| Pak1 |
T |
A |
7: 97,535,555 (GRCm39) |
D215E |
probably benign |
Het |
| Pde7b |
A |
G |
10: 20,282,937 (GRCm39) |
F355L |
probably benign |
Het |
| Phaf1 |
C |
A |
8: 105,978,236 (GRCm39) |
Q397K |
probably benign |
Het |
| Pi4ka |
A |
G |
16: 17,194,787 (GRCm39) |
S204P |
|
Het |
| Pirb |
T |
C |
7: 3,720,782 (GRCm39) |
K239E |
not run |
Het |
| Pirb |
C |
T |
7: 3,720,800 (GRCm39) |
G233R |
not run |
Het |
| Pnp |
G |
A |
14: 51,188,460 (GRCm39) |
M211I |
probably benign |
Het |
| Pot1a |
A |
T |
6: 25,758,822 (GRCm39) |
L319Q |
probably benign |
Het |
| Rspry1 |
G |
T |
8: 95,349,750 (GRCm39) |
C46F |
probably damaging |
Het |
| Sanbr |
A |
C |
11: 23,556,757 (GRCm39) |
C408G |
probably benign |
Het |
| Sec11c |
C |
T |
18: 65,945,783 (GRCm39) |
T82M |
possibly damaging |
Het |
| Secisbp2 |
T |
C |
13: 51,827,134 (GRCm39) |
V414A |
probably benign |
Het |
| Tenm2 |
A |
G |
11: 36,755,762 (GRCm39) |
F79L |
probably damaging |
Het |
| Vmn2r2 |
A |
G |
3: 64,042,019 (GRCm39) |
V232A |
possibly damaging |
Het |
| Zbtb17 |
T |
C |
4: 141,193,394 (GRCm39) |
S593P |
probably damaging |
Het |
| Zfp143 |
T |
G |
7: 109,685,427 (GRCm39) |
C419G |
possibly damaging |
Het |
| Zfp804b |
T |
C |
5: 6,821,293 (GRCm39) |
N590S |
possibly 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 |
|
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 |
|
|
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'- CTCTGTCTTAGAAAAGCATTCAGTGC -3'
(R):5'- TCTAATTCCTGGTGCTGCAGG -3'
Sequencing Primer
(F):5'- ATTCAGTGCTCACCCTTATGC -3'
(R):5'- ACCTACAGGGAAGCTCAGG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation