Incidental Mutation 'R5972:Lrp8'
ID |
471458 |
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 |
044155-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.477)
|
Stock # |
R5972 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
107659337-107734037 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 107726267 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 899
(Y899H)
|
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: Y858H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000030356 Gene: ENSMUSG00000028613 AA Change: Y858H
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: Y660H
|
SMART Domains |
Protein: ENSMUSP00000102342 Gene: ENSMUSG00000028613 AA Change: Y660H
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: Y773H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102343 Gene: ENSMUSG00000028613 AA Change: Y773H
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: Y858H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102344 Gene: ENSMUSG00000028613 AA Change: Y858H
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: Y656H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000118020 Gene: ENSMUSG00000028613 AA Change: Y656H
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 damaging
Transcript: ENSMUST00000143601
AA Change: Y899H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000115854 Gene: ENSMUSG00000028613 AA Change: Y899H
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: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
Validation Efficiency |
100% (51/51) |
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 |
Abcg2 |
T |
A |
6: 58,649,070 (GRCm39) |
M305K |
probably benign |
Het |
Accs |
G |
T |
2: 93,669,572 (GRCm39) |
H283N |
probably damaging |
Het |
Actl6b |
A |
T |
5: 137,564,818 (GRCm39) |
H283L |
possibly damaging |
Het |
Adgra1 |
T |
C |
7: 139,425,583 (GRCm39) |
L32P |
probably damaging |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Arfgef2 |
T |
C |
2: 166,733,756 (GRCm39) |
I1672T |
probably damaging |
Het |
Bambi |
T |
A |
18: 3,512,354 (GRCm39) |
V246E |
probably damaging |
Het |
BC048679 |
A |
G |
7: 81,145,479 (GRCm39) |
L29P |
probably damaging |
Het |
Bmal2 |
A |
G |
6: 146,711,187 (GRCm39) |
M64V |
probably damaging |
Het |
Camk4 |
T |
C |
18: 33,240,979 (GRCm39) |
L92P |
probably damaging |
Het |
Ddx11 |
C |
A |
17: 66,455,085 (GRCm39) |
Q655K |
probably benign |
Het |
Ddx52 |
A |
G |
11: 83,844,051 (GRCm39) |
|
probably null |
Het |
Entrep3 |
T |
A |
3: 89,093,115 (GRCm39) |
V213D |
probably damaging |
Het |
Eps8l3 |
T |
C |
3: 107,791,763 (GRCm39) |
|
probably null |
Het |
Erap1 |
T |
A |
13: 74,810,423 (GRCm39) |
|
probably null |
Het |
Flg |
T |
A |
3: 93,186,849 (GRCm39) |
N100K |
probably benign |
Het |
Grip2 |
A |
T |
6: 91,784,262 (GRCm39) |
V13E |
probably benign |
Het |
Iars1 |
T |
C |
13: 49,863,108 (GRCm39) |
V520A |
possibly damaging |
Het |
Impa1 |
A |
G |
3: 10,394,064 (GRCm39) |
M1T |
probably null |
Het |
Ip6k3 |
T |
C |
17: 27,368,934 (GRCm39) |
T179A |
possibly damaging |
Het |
Krt87 |
T |
A |
15: 101,385,467 (GRCm39) |
M302L |
probably benign |
Het |
Lrpprc |
A |
T |
17: 85,020,250 (GRCm39) |
I1145N |
possibly damaging |
Het |
Mapk11 |
A |
T |
15: 89,028,387 (GRCm39) |
D324E |
probably benign |
Het |
Melk |
C |
T |
4: 44,351,007 (GRCm39) |
T516I |
probably benign |
Het |
Mia2 |
C |
T |
12: 59,193,723 (GRCm39) |
H130Y |
probably damaging |
Het |
Mroh5 |
C |
T |
15: 73,662,568 (GRCm39) |
|
probably null |
Het |
Ncam1 |
T |
C |
9: 49,418,829 (GRCm39) |
T824A |
possibly damaging |
Het |
Neurog1 |
T |
C |
13: 56,399,211 (GRCm39) |
S179G |
probably damaging |
Het |
Ntrk2 |
T |
A |
13: 58,985,633 (GRCm39) |
L79Q |
probably damaging |
Het |
Patj |
T |
A |
4: 98,457,290 (GRCm39) |
M46K |
probably damaging |
Het |
Pdcd6ip |
T |
C |
9: 113,491,366 (GRCm39) |
K626E |
probably benign |
Het |
Pdss2 |
T |
A |
10: 43,174,922 (GRCm39) |
Y143N |
probably damaging |
Het |
Pkhd1l1 |
G |
A |
15: 44,408,812 (GRCm39) |
S2433N |
probably damaging |
Het |
Plekha5 |
A |
G |
6: 140,518,639 (GRCm39) |
T309A |
possibly damaging |
Het |
Prdm4 |
C |
T |
10: 85,743,365 (GRCm39) |
V297M |
probably damaging |
Het |
Rab15 |
T |
C |
12: 76,847,377 (GRCm39) |
Y148C |
probably damaging |
Het |
Ryr3 |
A |
T |
2: 112,664,409 (GRCm39) |
N1627K |
probably damaging |
Het |
Scn1a |
G |
T |
2: 66,181,454 (GRCm39) |
A23E |
possibly damaging |
Het |
Smtn |
A |
T |
11: 3,483,486 (GRCm39) |
I30N |
probably damaging |
Het |
Sympk |
A |
G |
7: 18,780,749 (GRCm39) |
K751E |
probably benign |
Het |
Usp24 |
C |
T |
4: 106,225,264 (GRCm39) |
P632L |
probably damaging |
Het |
Vmn2r106 |
A |
G |
17: 20,498,738 (GRCm39) |
I391T |
probably benign |
Het |
Vmn2r54 |
G |
A |
7: 12,349,279 (GRCm39) |
P768S |
probably damaging |
Het |
Vmn2r54 |
C |
T |
7: 12,369,874 (GRCm39) |
C63Y |
probably damaging |
Het |
Zfhx3 |
T |
G |
8: 109,677,483 (GRCm39) |
C2844W |
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 |
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'- TCAAAATGGAGCCCGGAAGC -3'
(R):5'- AAACAGTGCCTGGTATGCAG -3'
Sequencing Primer
(F):5'- CCCGGAAGCAAGGGGTTATAC -3'
(R):5'- CCTGGTATGCAGGAGGTTCC -3'
|
Posted On |
2017-03-31 |