Incidental Mutation 'IGL02754:Lrp8'
| ID | 306368 |
|---|
| 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 | |
|---|
| Is this an essential gene? |
Possibly essential (E-score: 0.651)
|
|---|
| Stock # | IGL02754
|
|---|
| Quality Score | |
|---|
| Status |
|
|---|
| Chromosome | 4 |
|---|
| Chromosomal Location | 107802261-107876840 bp(+) (GRCm38) |
|---|
| Type of Mutation | splice site (6 bp from exon) |
|---|
| DNA Base Change (assembly) |
T to C
at 107834755 bp
|
|---|
| 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]
|
|---|
| 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000142425
|
|---|
| 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: ENSMUST00000145832
|
|---|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AW551984 |
T |
A |
9: 39,596,626 |
R405* |
probably null |
Het |
| AW551984 |
C |
T |
9: 39,593,328 |
|
probably null |
Het |
| BC100530 |
G |
A |
16: 36,359,537 |
P73S |
probably benign |
Het |
| Bdp1 |
T |
C |
13: 100,060,973 |
E968G |
possibly damaging |
Het |
| Ccdc68 |
T |
C |
18: 69,943,864 |
|
probably null |
Het |
| Ccdc87 |
T |
A |
19: 4,839,861 |
L127H |
probably damaging |
Het |
| Cdk5r1 |
G |
T |
11: 80,477,743 |
A79S |
probably benign |
Het |
| Cdyl |
A |
T |
13: 35,683,742 |
|
probably benign |
Het |
| Cfdp1 |
A |
G |
8: 111,854,134 |
|
probably benign |
Het |
| Chil1 |
A |
T |
1: 134,183,601 |
I62F |
probably damaging |
Het |
| Cnot1 |
A |
T |
8: 95,755,078 |
I789K |
probably benign |
Het |
| Cobl |
T |
C |
11: 12,254,371 |
K695R |
probably damaging |
Het |
| Cobl |
C |
A |
11: 12,254,370 |
K752N |
probably damaging |
Het |
| Dcaf6 |
T |
C |
1: 165,338,346 |
|
probably null |
Het |
| Ece2 |
A |
T |
16: 20,632,648 |
I197F |
probably damaging |
Het |
| Eif2b5 |
T |
G |
16: 20,502,786 |
V363G |
possibly damaging |
Het |
| Gca |
T |
C |
2: 62,672,358 |
S37P |
probably benign |
Het |
| Ghsr |
A |
C |
3: 27,372,496 |
I234L |
probably damaging |
Het |
| Grin3b |
A |
T |
10: 79,972,889 |
I158F |
possibly damaging |
Het |
| Gtf2h2 |
A |
T |
13: 100,481,239 |
D178E |
probably damaging |
Het |
| Herc2 |
A |
G |
7: 56,097,498 |
E461G |
probably damaging |
Het |
| Hsph1 |
T |
A |
5: 149,623,592 |
N531I |
possibly damaging |
Het |
| Insl6 |
G |
T |
19: 29,325,129 |
Q63K |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,702,794 |
N3771S |
probably benign |
Het |
| Lvrn |
C |
T |
18: 46,890,904 |
Q773* |
probably null |
Het |
| Mterf1b |
T |
C |
5: 4,196,478 |
F40L |
possibly damaging |
Het |
| Nrg1 |
G |
A |
8: 31,826,363 |
|
probably benign |
Het |
| Olfr1337 |
T |
A |
4: 118,781,920 |
I222F |
possibly damaging |
Het |
| Olfr351 |
T |
A |
2: 36,860,220 |
I43F |
probably damaging |
Het |
| Olfr507 |
T |
C |
7: 108,622,673 |
I287T |
possibly damaging |
Het |
| Pax5 |
C |
T |
4: 44,570,059 |
V319I |
probably damaging |
Het |
| Plcz1 |
T |
A |
6: 140,010,581 |
T321S |
probably benign |
Het |
| Plekha6 |
A |
G |
1: 133,284,938 |
E660G |
probably damaging |
Het |
| Prep |
T |
C |
10: 45,067,332 |
M1T |
probably null |
Het |
| Prickle1 |
C |
T |
15: 93,501,153 |
S598N |
possibly damaging |
Het |
| Prtn3 |
A |
G |
10: 79,881,098 |
Q99R |
probably benign |
Het |
| Rad50 |
A |
G |
11: 53,702,056 |
V89A |
probably damaging |
Het |
| Ret |
T |
C |
6: 118,176,252 |
Y485C |
probably benign |
Het |
| Setd2 |
T |
A |
9: 110,550,056 |
F980I |
possibly damaging |
Het |
| Slc44a4 |
A |
G |
17: 34,921,303 |
Y228C |
probably damaging |
Het |
| Tex10 |
C |
T |
4: 48,435,028 |
C779Y |
possibly damaging |
Het |
| Tfdp2 |
T |
G |
9: 96,317,539 |
S285A |
probably benign |
Het |
| Thsd4 |
T |
A |
9: 59,989,097 |
|
probably benign |
Het |
| Tmem106a |
A |
C |
11: 101,590,393 |
E242D |
probably benign |
Het |
| Ttc22 |
T |
C |
4: 106,638,472 |
V341A |
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,410,784 |
S1151T |
probably damaging |
Het |
| Ubr4 |
G |
A |
4: 139,393,159 |
|
probably null |
Het |
| Vmn1r206 |
A |
T |
13: 22,620,890 |
L49* |
probably null |
Het |
| Vmn1r233 |
A |
T |
17: 20,994,625 |
F21Y |
probably benign |
Het |
| Vmn1r233 |
A |
T |
17: 20,994,624 |
F21L |
probably benign |
Het |
| Vmn2r15 |
A |
T |
5: 109,293,268 |
C241* |
probably null |
Het |
| Zmym6 |
T |
A |
4: 127,109,971 |
|
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 |
|
IGL01514:Lrp8
|
APN |
4 |
107855684 |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
|---|
| Posted On | 2015-04-16 |
|---|
