Incidental Mutation 'IGL03166:Lrp3'
| ID |
411647 |
| 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: 0.121)
|
| Stock # |
IGL03166
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
34900303-34914791 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 34901905 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 659
(L659I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114026
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001854]
[ENSMUST00000118444]
[ENSMUST00000122409]
[ENSMUST00000131048]
[ENSMUST00000167441]
|
| 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
AA Change: L638I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113406
Gene: ENSMUSG00000001802
AA Change: L638I
| 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
AA Change: L659I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000114026
Gene: ENSMUSG00000001802
AA Change: L659I
| 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 |
probably benign
Transcript: ENSMUST00000131048
|
| SMART Domains |
Protein: ENSMUSP00000118331
Gene: ENSMUSG00000030495
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
37 |
N/A |
INTRINSIC |
|
Pfam:AA_permease_2
|
46 |
346 |
8.6e-48 |
PFAM |
|
Pfam:AA_permease
|
51 |
346 |
1e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146959
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153163
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155404
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167441
|
| SMART Domains |
Protein: ENSMUSP00000129954
Gene: ENSMUSG00000030495
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
37 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
| Ankfn1 |
G |
T |
11: 89,429,264 (GRCm39) |
A40D |
probably benign |
Het |
| Arhgap20 |
T |
A |
9: 51,761,077 (GRCm39) |
I940K |
possibly damaging |
Het |
| Arhgap24 |
T |
C |
5: 103,023,552 (GRCm39) |
|
probably benign |
Het |
| Bdp1 |
T |
C |
13: 100,172,308 (GRCm39) |
T2103A |
probably benign |
Het |
| Cep350 |
A |
G |
1: 155,739,346 (GRCm39) |
S2166P |
possibly damaging |
Het |
| Dlg2 |
T |
C |
7: 91,549,938 (GRCm39) |
|
probably benign |
Het |
| Fhip2b |
A |
T |
14: 70,827,616 (GRCm39) |
C160S |
probably damaging |
Het |
| Fyco1 |
A |
T |
9: 123,657,452 (GRCm39) |
L908H |
probably benign |
Het |
| Gprc5b |
C |
A |
7: 118,583,222 (GRCm39) |
A216S |
probably benign |
Het |
| Lamc1 |
A |
G |
1: 153,208,047 (GRCm39) |
V80A |
probably benign |
Het |
| Lilra6 |
T |
C |
7: 3,915,626 (GRCm39) |
I370V |
possibly damaging |
Het |
| Lim2 |
T |
A |
7: 43,080,047 (GRCm39) |
C11* |
probably null |
Het |
| Lrp1b |
T |
A |
2: 41,001,050 (GRCm39) |
H2058L |
probably damaging |
Het |
| Lrrc8a |
T |
G |
2: 30,145,377 (GRCm39) |
S64A |
probably benign |
Het |
| Lsr |
C |
T |
7: 30,661,522 (GRCm39) |
|
probably null |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Man2c1 |
T |
A |
9: 57,046,382 (GRCm39) |
V479E |
probably damaging |
Het |
| Mtf2 |
T |
A |
5: 108,254,586 (GRCm39) |
D462E |
probably benign |
Het |
| Mx2 |
T |
C |
16: 97,347,990 (GRCm39) |
I205T |
probably damaging |
Het |
| Nos1 |
T |
A |
5: 118,052,517 (GRCm39) |
|
probably benign |
Het |
| Optc |
C |
T |
1: 133,831,530 (GRCm39) |
|
probably benign |
Het |
| Or51e2 |
T |
C |
7: 102,391,254 (GRCm39) |
N319D |
probably benign |
Het |
| Orm1 |
C |
A |
4: 63,262,831 (GRCm39) |
|
probably benign |
Het |
| Pdzd8 |
T |
C |
19: 59,288,940 (GRCm39) |
E820G |
probably damaging |
Het |
| Pkp1 |
A |
T |
1: 135,805,862 (GRCm39) |
M612K |
probably damaging |
Het |
| Pno1 |
T |
A |
11: 17,154,513 (GRCm39) |
|
probably null |
Het |
| Rbm34 |
T |
C |
8: 127,697,606 (GRCm39) |
Q35R |
probably damaging |
Het |
| Ryr3 |
A |
T |
2: 112,471,457 (GRCm39) |
Y4564* |
probably null |
Het |
| Slc34a3 |
T |
C |
2: 25,122,186 (GRCm39) |
I140V |
probably damaging |
Het |
| Slc43a1 |
T |
C |
2: 84,687,700 (GRCm39) |
I419T |
possibly damaging |
Het |
| Sltm |
C |
A |
9: 70,450,251 (GRCm39) |
A17E |
possibly damaging |
Het |
| Smpdl3b |
T |
C |
4: 132,468,842 (GRCm39) |
D125G |
probably benign |
Het |
| Snorc |
A |
C |
1: 87,402,933 (GRCm39) |
|
probably benign |
Het |
| Supt3 |
G |
T |
17: 45,234,106 (GRCm39) |
A48S |
probably damaging |
Het |
| Tlr3 |
A |
G |
8: 45,855,965 (GRCm39) |
F72L |
probably benign |
Het |
| Trim36 |
T |
C |
18: 46,345,388 (GRCm39) |
E15G |
probably benign |
Het |
| Tubb4b-ps1 |
A |
T |
5: 7,229,965 (GRCm39) |
|
probably benign |
Het |
| Vmn2r68 |
T |
C |
7: 84,871,331 (GRCm39) |
T651A |
probably benign |
Het |
| Wdr76 |
G |
T |
2: 121,364,787 (GRCm39) |
V462F |
possibly damaging |
Het |
| Wnk2 |
C |
A |
13: 49,224,520 (GRCm39) |
G1112* |
probably null |
Het |
| Zfp868 |
A |
C |
8: 70,064,965 (GRCm39) |
C123W |
probably damaging |
Het |
| Zyg11b |
T |
A |
4: 108,123,086 (GRCm39) |
M294L |
probably benign |
Het |
|
| Other mutations in Lrp3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00656:Lrp3
|
APN |
7 |
34,905,453 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation