Incidental Mutation 'IGL00656:Lrp3'
ID |
13593 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lrp3
|
Ensembl Gene |
ENSMUSG00000001802 |
Gene Name |
low density lipoprotein receptor-related protein 3 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.111)
|
Stock # |
IGL00656
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
34900303-34914791 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 34905453 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114026
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001854]
[ENSMUST00000118444]
[ENSMUST00000122409]
|
AlphaFold |
E9Q1T6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000001854
|
SMART Domains |
Protein: ENSMUSP00000001854 Gene: ENSMUSG00000030495
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
37 |
N/A |
INTRINSIC |
Pfam:AA_permease_2
|
46 |
474 |
4.8e-65 |
PFAM |
Pfam:AA_permease
|
51 |
467 |
9.3e-37 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000118444
|
SMART Domains |
Protein: ENSMUSP00000113406 Gene: ENSMUSG00000001802
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
35 |
N/A |
INTRINSIC |
CUB
|
43 |
159 |
9.97e-20 |
SMART |
LDLa
|
165 |
202 |
7.21e-11 |
SMART |
LDLa
|
211 |
251 |
1.37e-11 |
SMART |
CUB
|
254 |
365 |
1.98e-3 |
SMART |
LDLa
|
367 |
414 |
1.85e-1 |
SMART |
LDLa
|
415 |
453 |
4.44e-3 |
SMART |
LDLa
|
454 |
490 |
8.74e-10 |
SMART |
transmembrane domain
|
497 |
519 |
N/A |
INTRINSIC |
low complexity region
|
584 |
606 |
N/A |
INTRINSIC |
low complexity region
|
641 |
652 |
N/A |
INTRINSIC |
low complexity region
|
674 |
684 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000122409
|
SMART Domains |
Protein: ENSMUSP00000114026 Gene: ENSMUSG00000001802
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
35 |
N/A |
INTRINSIC |
CUB
|
64 |
180 |
9.97e-20 |
SMART |
LDLa
|
186 |
223 |
7.21e-11 |
SMART |
LDLa
|
232 |
272 |
1.37e-11 |
SMART |
CUB
|
275 |
386 |
1.98e-3 |
SMART |
LDLa
|
388 |
435 |
1.85e-1 |
SMART |
LDLa
|
436 |
474 |
4.44e-3 |
SMART |
LDLa
|
475 |
511 |
8.74e-10 |
SMART |
transmembrane domain
|
518 |
540 |
N/A |
INTRINSIC |
low complexity region
|
605 |
627 |
N/A |
INTRINSIC |
low complexity region
|
662 |
673 |
N/A |
INTRINSIC |
low complexity region
|
695 |
705 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153163
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155404
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 16 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asns |
A |
T |
6: 7,680,215 (GRCm39) |
|
probably benign |
Het |
Atxn2 |
A |
G |
5: 121,933,118 (GRCm39) |
I814V |
probably benign |
Het |
Cfhr1 |
T |
C |
1: 139,475,493 (GRCm39) |
|
probably benign |
Het |
Cyp3a57 |
A |
G |
5: 145,309,359 (GRCm39) |
I232M |
possibly damaging |
Het |
Ddx27 |
T |
A |
2: 166,861,886 (GRCm39) |
D129E |
probably benign |
Het |
Dld |
A |
G |
12: 31,399,594 (GRCm39) |
|
probably null |
Het |
Ibtk |
A |
G |
9: 85,599,598 (GRCm39) |
|
probably null |
Het |
Mmp27 |
A |
C |
9: 7,581,383 (GRCm39) |
T549P |
possibly damaging |
Het |
Oas1d |
A |
G |
5: 121,057,270 (GRCm39) |
Y292C |
possibly damaging |
Het |
Pdcd11 |
A |
G |
19: 47,086,609 (GRCm39) |
D205G |
probably damaging |
Het |
Rbm39 |
A |
G |
2: 156,004,791 (GRCm39) |
V181A |
probably damaging |
Het |
Spata31e2 |
A |
G |
1: 26,721,982 (GRCm39) |
V1066A |
possibly damaging |
Het |
Strbp |
T |
C |
2: 37,493,150 (GRCm39) |
|
probably benign |
Het |
Tor1aip1 |
T |
C |
1: 155,907,213 (GRCm39) |
N187S |
probably benign |
Het |
Ubqln3 |
T |
C |
7: 103,790,984 (GRCm39) |
T369A |
probably benign |
Het |
Unc13a |
G |
A |
8: 72,095,791 (GRCm39) |
A1242V |
probably null |
Het |
|
Other mutations in Lrp3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01714:Lrp3
|
APN |
7 |
34,905,496 (GRCm39) |
splice site |
probably null |
|
IGL03033:Lrp3
|
APN |
7 |
34,902,052 (GRCm39) |
missense |
possibly damaging |
0.61 |
IGL03166:Lrp3
|
APN |
7 |
34,901,905 (GRCm39) |
missense |
probably benign |
0.00 |
Blackball
|
UTSW |
7 |
34,905,477 (GRCm39) |
missense |
probably damaging |
1.00 |
lowball
|
UTSW |
7 |
34,903,593 (GRCm39) |
missense |
probably benign |
0.00 |
PIT4434001:Lrp3
|
UTSW |
7 |
34,903,420 (GRCm39) |
missense |
probably damaging |
0.99 |
R0416:Lrp3
|
UTSW |
7 |
34,901,778 (GRCm39) |
missense |
probably benign |
|
R0733:Lrp3
|
UTSW |
7 |
34,901,545 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0907:Lrp3
|
UTSW |
7 |
34,902,718 (GRCm39) |
missense |
probably damaging |
0.99 |
R1437:Lrp3
|
UTSW |
7 |
34,912,595 (GRCm39) |
missense |
probably damaging |
1.00 |
R1591:Lrp3
|
UTSW |
7 |
34,901,790 (GRCm39) |
missense |
probably benign |
0.03 |
R1625:Lrp3
|
UTSW |
7 |
34,903,350 (GRCm39) |
missense |
probably damaging |
1.00 |
R1703:Lrp3
|
UTSW |
7 |
34,912,586 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3976:Lrp3
|
UTSW |
7 |
34,903,530 (GRCm39) |
missense |
probably benign |
0.06 |
R4196:Lrp3
|
UTSW |
7 |
34,902,835 (GRCm39) |
missense |
probably damaging |
1.00 |
R4679:Lrp3
|
UTSW |
7 |
34,903,365 (GRCm39) |
missense |
probably damaging |
1.00 |
R5686:Lrp3
|
UTSW |
7 |
34,902,910 (GRCm39) |
missense |
possibly damaging |
0.84 |
R5836:Lrp3
|
UTSW |
7 |
34,902,747 (GRCm39) |
missense |
probably damaging |
1.00 |
R6160:Lrp3
|
UTSW |
7 |
34,903,548 (GRCm39) |
missense |
possibly damaging |
0.79 |
R6342:Lrp3
|
UTSW |
7 |
34,901,731 (GRCm39) |
missense |
probably benign |
0.01 |
R6364:Lrp3
|
UTSW |
7 |
34,903,134 (GRCm39) |
missense |
probably benign |
0.03 |
R6415:Lrp3
|
UTSW |
7 |
34,903,593 (GRCm39) |
missense |
probably benign |
0.00 |
R6502:Lrp3
|
UTSW |
7 |
34,903,413 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6747:Lrp3
|
UTSW |
7 |
34,910,862 (GRCm39) |
missense |
probably benign |
|
R7205:Lrp3
|
UTSW |
7 |
34,902,051 (GRCm39) |
missense |
probably damaging |
0.99 |
R7232:Lrp3
|
UTSW |
7 |
34,905,477 (GRCm39) |
missense |
probably damaging |
1.00 |
R7522:Lrp3
|
UTSW |
7 |
34,903,755 (GRCm39) |
missense |
probably damaging |
0.99 |
R7870:Lrp3
|
UTSW |
7 |
34,910,922 (GRCm39) |
missense |
probably damaging |
0.99 |
R7963:Lrp3
|
UTSW |
7 |
34,902,404 (GRCm39) |
nonsense |
probably null |
|
R9094:Lrp3
|
UTSW |
7 |
34,903,182 (GRCm39) |
missense |
probably damaging |
1.00 |
R9242:Lrp3
|
UTSW |
7 |
34,901,934 (GRCm39) |
missense |
probably benign |
0.01 |
R9474:Lrp3
|
UTSW |
7 |
34,903,489 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Lrp3
|
UTSW |
7 |
34,902,437 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2012-12-06 |