Incidental Mutation 'R5033:Lrp8'
ID |
389342 |
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 |
042624-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.477)
|
Stock # |
R5033 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
107659337-107734037 bp(+) (GRCm39) |
Type of Mutation |
splice site (6 bp from exon) |
DNA Base Change (assembly) |
T to C
at 107691952 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118020
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030356]
[ENSMUST00000030356]
[ENSMUST00000106732]
[ENSMUST00000106732]
[ENSMUST00000106733]
[ENSMUST00000106733]
[ENSMUST00000126573]
[ENSMUST00000126573]
[ENSMUST00000143601]
|
AlphaFold |
Q924X6 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000030352
|
Predicted Effect |
probably null
Transcript: ENSMUST00000030356
|
SMART Domains |
Protein: ENSMUSP00000030356 Gene: ENSMUSG00000028613
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 null
Transcript: ENSMUST00000030356
|
SMART Domains |
Protein: ENSMUSP00000030356 Gene: ENSMUSG00000028613
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 null
Transcript: ENSMUST00000106731
|
SMART Domains |
Protein: ENSMUSP00000102342 Gene: ENSMUSG00000028613
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 null
Transcript: ENSMUST00000106731
|
SMART Domains |
Protein: ENSMUSP00000102342 Gene: ENSMUSG00000028613
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 null
Transcript: ENSMUST00000106732
|
SMART Domains |
Protein: ENSMUSP00000102343 Gene: ENSMUSG00000028613
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 null
Transcript: ENSMUST00000106732
|
SMART Domains |
Protein: ENSMUSP00000102343 Gene: ENSMUSG00000028613
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 null
Transcript: ENSMUST00000106733
|
SMART Domains |
Protein: ENSMUSP00000102344 Gene: ENSMUSG00000028613
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 null
Transcript: ENSMUST00000106733
|
SMART Domains |
Protein: ENSMUSP00000102344 Gene: ENSMUSG00000028613
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 |
noncoding transcript
Transcript: ENSMUST00000145832
|
Predicted Effect |
probably null
Transcript: ENSMUST00000126573
|
SMART Domains |
Protein: ENSMUSP00000118020 Gene: ENSMUSG00000028613
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 null
Transcript: ENSMUST00000126573
|
SMART Domains |
Protein: ENSMUSP00000118020 Gene: ENSMUSG00000028613
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
|
SMART Domains |
Protein: ENSMUSP00000115854 Gene: ENSMUSG00000028613
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: ENSMUST00000147319
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146552
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142425
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.8%
|
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: 88 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
9930111J21Rik1 |
G |
A |
11: 48,838,533 (GRCm39) |
R685W |
probably damaging |
Het |
Arhgap10 |
A |
T |
8: 78,109,386 (GRCm39) |
L399H |
probably damaging |
Het |
Arih2 |
AGCCG |
AG |
9: 108,488,859 (GRCm39) |
|
probably benign |
Het |
Atp13a2 |
A |
G |
4: 140,728,132 (GRCm39) |
H575R |
possibly damaging |
Het |
Bbof1 |
G |
A |
12: 84,458,044 (GRCm39) |
|
probably null |
Het |
Bltp3a |
A |
G |
17: 28,105,838 (GRCm39) |
E788G |
probably damaging |
Het |
Catsperg2 |
A |
C |
7: 29,409,559 (GRCm39) |
Y545D |
possibly damaging |
Het |
Cdc42bpa |
T |
A |
1: 179,892,580 (GRCm39) |
I248N |
probably damaging |
Het |
Cdk11b |
A |
T |
4: 155,733,282 (GRCm39) |
|
probably benign |
Het |
Cfap46 |
C |
A |
7: 139,183,776 (GRCm39) |
L90F |
probably benign |
Het |
Cndp2 |
A |
G |
18: 84,688,954 (GRCm39) |
L276P |
possibly damaging |
Het |
Col3a1 |
A |
C |
1: 45,385,270 (GRCm39) |
D129A |
probably damaging |
Het |
Daam1 |
C |
A |
12: 71,993,294 (GRCm39) |
H354Q |
unknown |
Het |
Dnah5 |
T |
A |
15: 28,421,824 (GRCm39) |
F3892Y |
probably damaging |
Het |
Dnajb3 |
A |
G |
1: 88,132,745 (GRCm39) |
V219A |
possibly damaging |
Het |
Drd5 |
A |
G |
5: 38,477,544 (GRCm39) |
H179R |
probably damaging |
Het |
Dym |
A |
G |
18: 75,252,232 (GRCm39) |
N333D |
possibly damaging |
Het |
Eif2b3 |
A |
G |
4: 116,909,933 (GRCm39) |
D156G |
probably damaging |
Het |
Emc1 |
A |
G |
4: 139,099,007 (GRCm39) |
D830G |
probably damaging |
Het |
F13a1 |
A |
C |
13: 37,172,830 (GRCm39) |
I183M |
probably damaging |
Het |
Fam136b-ps |
T |
A |
15: 31,277,043 (GRCm39) |
|
probably benign |
Het |
Fdft1 |
C |
A |
14: 63,400,853 (GRCm39) |
K93N |
probably damaging |
Het |
Garre1 |
C |
T |
7: 33,945,237 (GRCm39) |
G336S |
probably benign |
Het |
Gcc2 |
A |
G |
10: 58,114,628 (GRCm39) |
D959G |
probably damaging |
Het |
Gp2 |
A |
G |
7: 119,053,514 (GRCm39) |
V149A |
probably damaging |
Het |
Gpc1 |
G |
A |
1: 92,784,751 (GRCm39) |
G308D |
probably damaging |
Het |
Hdac9 |
A |
T |
12: 34,423,906 (GRCm39) |
C587S |
probably benign |
Het |
Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
Iars2 |
A |
G |
1: 185,050,125 (GRCm39) |
V453A |
possibly damaging |
Het |
Il1r1 |
T |
G |
1: 40,332,684 (GRCm39) |
C121W |
probably damaging |
Het |
Inhca |
A |
G |
9: 103,156,613 (GRCm39) |
V149A |
probably benign |
Het |
Jazf1 |
A |
G |
6: 52,754,525 (GRCm39) |
Y184H |
probably damaging |
Het |
Kel |
A |
T |
6: 41,675,989 (GRCm39) |
Y234N |
probably damaging |
Het |
Khk |
G |
A |
5: 31,087,004 (GRCm39) |
G186D |
probably damaging |
Het |
Klf4 |
A |
T |
4: 55,530,301 (GRCm39) |
M270K |
probably benign |
Het |
Kmt2c |
G |
A |
5: 25,519,706 (GRCm39) |
L2135F |
probably benign |
Het |
Krtap15-1 |
A |
G |
16: 88,626,044 (GRCm39) |
Y37C |
probably damaging |
Het |
Lars1 |
A |
G |
18: 42,347,841 (GRCm39) |
F994S |
possibly damaging |
Het |
Ldc1 |
C |
T |
4: 130,115,408 (GRCm39) |
|
probably null |
Het |
Lrrc2 |
A |
T |
9: 110,809,987 (GRCm39) |
D341V |
probably damaging |
Het |
Map4k4 |
A |
G |
1: 40,046,662 (GRCm39) |
K646R |
probably damaging |
Het |
Mrps9 |
T |
A |
1: 42,934,491 (GRCm39) |
|
probably null |
Het |
Or10ag60 |
T |
A |
2: 87,438,055 (GRCm39) |
C108S |
probably damaging |
Het |
Or11h6 |
T |
A |
14: 50,880,619 (GRCm39) |
Y288N |
probably damaging |
Het |
Or8c20 |
C |
T |
9: 38,260,924 (GRCm39) |
H176Y |
probably damaging |
Het |
Pcnt |
A |
T |
10: 76,235,779 (GRCm39) |
C1401S |
possibly damaging |
Het |
Pdgfrb |
A |
T |
18: 61,210,740 (GRCm39) |
K749M |
probably damaging |
Het |
Pigo |
A |
T |
4: 43,019,412 (GRCm39) |
W969R |
probably null |
Het |
Pigr |
A |
T |
1: 130,772,436 (GRCm39) |
Y218F |
probably damaging |
Het |
Pih1d1 |
A |
G |
7: 44,804,278 (GRCm39) |
|
probably benign |
Het |
Pik3cg |
A |
T |
12: 32,249,195 (GRCm39) |
|
probably null |
Het |
Pik3r6 |
A |
T |
11: 68,424,294 (GRCm39) |
K300* |
probably null |
Het |
Pip5k1c |
A |
G |
10: 81,141,084 (GRCm39) |
D64G |
probably damaging |
Het |
Piwil2 |
A |
T |
14: 70,659,042 (GRCm39) |
I161K |
possibly damaging |
Het |
Pou3f1 |
A |
G |
4: 124,552,449 (GRCm39) |
E317G |
probably damaging |
Het |
Prdm8 |
C |
T |
5: 98,333,071 (GRCm39) |
Q213* |
probably null |
Het |
Prpf6 |
T |
A |
2: 181,291,899 (GRCm39) |
C739S |
possibly damaging |
Het |
Psmc3 |
T |
A |
2: 90,884,953 (GRCm39) |
S40T |
probably benign |
Het |
Psmd3 |
A |
T |
11: 98,573,650 (GRCm39) |
D32V |
probably damaging |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Rapgef6 |
A |
T |
11: 54,582,207 (GRCm39) |
H1373L |
possibly damaging |
Het |
Rnf207 |
A |
C |
4: 152,397,666 (GRCm39) |
S328A |
probably benign |
Het |
Ros1 |
C |
T |
10: 52,004,512 (GRCm39) |
|
probably null |
Het |
Ryr2 |
T |
A |
13: 11,602,140 (GRCm39) |
I4581F |
possibly damaging |
Het |
Sacm1l |
C |
T |
9: 123,415,464 (GRCm39) |
R480W |
probably damaging |
Het |
Sec16a |
A |
G |
2: 26,309,661 (GRCm39) |
V664A |
probably benign |
Het |
Selenoo |
T |
A |
15: 88,976,969 (GRCm39) |
M207K |
probably damaging |
Het |
Sh3tc2 |
G |
A |
18: 62,147,962 (GRCm39) |
|
probably null |
Het |
Slc28a2b |
T |
A |
2: 122,353,395 (GRCm39) |
|
probably null |
Het |
Slco2b1 |
G |
T |
7: 99,309,256 (GRCm39) |
Q692K |
probably benign |
Het |
Slfn4 |
A |
T |
11: 83,077,623 (GRCm39) |
D137V |
probably damaging |
Het |
Srrm2 |
G |
A |
17: 24,039,592 (GRCm39) |
A2175T |
probably damaging |
Het |
Stard9 |
T |
A |
2: 120,523,880 (GRCm39) |
C692S |
probably benign |
Het |
Sulf2 |
T |
A |
2: 165,923,542 (GRCm39) |
D559V |
probably benign |
Het |
Tbpl2 |
T |
C |
2: 23,977,170 (GRCm39) |
I283V |
probably benign |
Het |
Tmem19 |
A |
G |
10: 115,195,666 (GRCm39) |
F46S |
probably benign |
Het |
Trp63 |
T |
A |
16: 25,582,056 (GRCm39) |
Y35N |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,716,786 (GRCm39) |
|
probably benign |
Het |
Ube2z |
A |
T |
11: 95,941,148 (GRCm39) |
H331Q |
probably benign |
Het |
Ubr1 |
C |
T |
2: 120,742,478 (GRCm39) |
|
probably null |
Het |
Vmn1r235 |
A |
T |
17: 21,482,550 (GRCm39) |
I292F |
possibly damaging |
Het |
Vmn2r1 |
T |
A |
3: 64,012,501 (GRCm39) |
D787E |
probably damaging |
Het |
Vmn2r3 |
A |
G |
3: 64,167,220 (GRCm39) |
V637A |
probably benign |
Het |
Xpnpep1 |
C |
A |
19: 52,994,606 (GRCm39) |
V341L |
probably benign |
Het |
Yme1l1 |
A |
G |
2: 23,084,759 (GRCm39) |
D619G |
probably damaging |
Het |
Zfp597 |
G |
A |
16: 3,684,502 (GRCm39) |
P85S |
probably damaging |
Het |
Zscan20 |
A |
G |
4: 128,479,921 (GRCm39) |
S857P |
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 |
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 |
|
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'- GCCTCTGTCTTAGAAAAGCATTC -3'
(R):5'- CTAATTCCTGGTGCTGCAGG -3'
Sequencing Primer
(F):5'- CTCTGTCTTAGAAAAGCATTCAGTGC -3'
(R):5'- ACCTACAGGGAAGCTCAGG -3'
|
Posted On |
2016-06-06 |