Incidental Mutation 'IGL01953:Lrp12'
| ID |
181332 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lrp12
|
| Ensembl Gene |
ENSMUSG00000022305 |
| Gene Name |
low density lipoprotein-related protein 12 |
| Synonyms |
C820005L12Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
IGL01953
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
39733985-39807390 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 39741497 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 406
(V406D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105934
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022916]
[ENSMUST00000110305]
[ENSMUST00000228575]
|
| AlphaFold |
Q8BUJ9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022916
AA Change: V425D
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000022916
Gene: ENSMUSG00000022305
AA Change: V425D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
CUB
|
47 |
159 |
3.23e-28 |
SMART |
|
LDLa
|
167 |
202 |
1.27e-11 |
SMART |
|
LDLa
|
214 |
256 |
1.04e-7 |
SMART |
|
CUB
|
259 |
372 |
9.88e-24 |
SMART |
|
LDLa
|
374 |
412 |
2.6e-3 |
SMART |
|
LDLa
|
413 |
450 |
2.36e-6 |
SMART |
|
LDLa
|
451 |
487 |
5.1e-11 |
SMART |
|
low complexity region
|
630 |
646 |
N/A |
INTRINSIC |
|
low complexity region
|
653 |
664 |
N/A |
INTRINSIC |
|
low complexity region
|
708 |
722 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110305
AA Change: V406D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105934
Gene: ENSMUSG00000022305
AA Change: V406D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
CUB
|
28 |
140 |
3.23e-28 |
SMART |
|
LDLa
|
148 |
183 |
1.27e-11 |
SMART |
|
LDLa
|
195 |
237 |
1.04e-7 |
SMART |
|
CUB
|
240 |
353 |
9.88e-24 |
SMART |
|
LDLa
|
355 |
393 |
2.6e-3 |
SMART |
|
LDLa
|
394 |
431 |
2.36e-6 |
SMART |
|
LDLa
|
432 |
468 |
5.1e-11 |
SMART |
|
low complexity region
|
611 |
627 |
N/A |
INTRINSIC |
|
low complexity region
|
634 |
645 |
N/A |
INTRINSIC |
|
low complexity region
|
689 |
703 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228575
|
| 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 related protein family. The product of this gene is a transmembrane protein that is differentially expressed in many cancer cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anks3 |
G |
A |
16: 4,778,408 (GRCm39) |
A8V |
probably damaging |
Het |
| Atp6v0a4 |
A |
G |
6: 38,031,552 (GRCm39) |
S650P |
probably damaging |
Het |
| B3glct |
C |
A |
5: 149,669,000 (GRCm39) |
D311E |
probably benign |
Het |
| Cc2d1a |
G |
A |
8: 84,870,607 (GRCm39) |
P119S |
probably benign |
Het |
| Cdcp3 |
T |
C |
7: 130,826,709 (GRCm39) |
M261T |
probably benign |
Het |
| Chdh |
T |
C |
14: 29,757,304 (GRCm39) |
V409A |
probably benign |
Het |
| Cipc |
T |
A |
12: 86,999,538 (GRCm39) |
V4E |
possibly damaging |
Het |
| Dock2 |
G |
T |
11: 34,623,183 (GRCm39) |
T70K |
probably benign |
Het |
| Dpf1 |
T |
C |
7: 29,013,732 (GRCm39) |
V269A |
probably damaging |
Het |
| Drc7 |
A |
T |
8: 95,785,753 (GRCm39) |
Y203F |
probably damaging |
Het |
| Dsg3 |
C |
T |
18: 20,658,361 (GRCm39) |
T324I |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Iqcd |
A |
T |
5: 120,738,554 (GRCm39) |
N124I |
probably benign |
Het |
| Kdm7a |
T |
C |
6: 39,123,836 (GRCm39) |
N776S |
probably benign |
Het |
| Lama5 |
C |
T |
2: 179,832,497 (GRCm39) |
R1684H |
probably damaging |
Het |
| Lrrc74a |
T |
A |
12: 86,788,494 (GRCm39) |
L158Q |
probably damaging |
Het |
| Mef2d |
C |
T |
3: 88,063,813 (GRCm39) |
T80I |
probably damaging |
Het |
| Megf11 |
T |
C |
9: 64,597,370 (GRCm39) |
C681R |
probably damaging |
Het |
| Mex3c |
A |
G |
18: 73,723,104 (GRCm39) |
D399G |
probably damaging |
Het |
| Muc20 |
T |
C |
16: 32,614,073 (GRCm39) |
T435A |
probably benign |
Het |
| Myo5b |
T |
C |
18: 74,702,838 (GRCm39) |
Y10H |
possibly damaging |
Het |
| Or12d13 |
T |
C |
17: 37,647,766 (GRCm39) |
D119G |
probably damaging |
Het |
| Or4k40 |
A |
G |
2: 111,250,657 (GRCm39) |
L213P |
probably benign |
Het |
| Otoa |
T |
A |
7: 120,759,548 (GRCm39) |
|
probably null |
Het |
| P4ha2 |
T |
C |
11: 54,004,996 (GRCm39) |
F124S |
probably benign |
Het |
| Phkg2 |
C |
T |
7: 127,181,512 (GRCm39) |
P232S |
probably damaging |
Het |
| Piezo1 |
T |
A |
8: 123,217,923 (GRCm39) |
Q800L |
probably damaging |
Het |
| Pign |
C |
A |
1: 105,516,764 (GRCm39) |
|
probably benign |
Het |
| Pik3r5 |
A |
G |
11: 68,384,997 (GRCm39) |
D634G |
probably benign |
Het |
| Ptpn9 |
A |
G |
9: 56,964,072 (GRCm39) |
T402A |
possibly damaging |
Het |
| Relb |
A |
C |
7: 19,349,482 (GRCm39) |
|
probably null |
Het |
| Scgb1b30 |
A |
G |
7: 33,799,302 (GRCm39) |
Q78R |
probably damaging |
Het |
| Sema6a |
C |
T |
18: 47,423,187 (GRCm39) |
W273* |
probably null |
Het |
| Sestd1 |
A |
G |
2: 77,042,813 (GRCm39) |
V247A |
possibly damaging |
Het |
| Specc1 |
T |
A |
11: 62,009,122 (GRCm39) |
S293T |
probably benign |
Het |
| Sptbn2 |
A |
G |
19: 4,799,721 (GRCm39) |
D2145G |
probably benign |
Het |
| Trim43b |
T |
A |
9: 88,967,496 (GRCm39) |
D380V |
possibly damaging |
Het |
| Vmn1r236 |
A |
G |
17: 21,507,473 (GRCm39) |
Y197C |
possibly damaging |
Het |
| Vmn1r79 |
A |
G |
7: 11,910,382 (GRCm39) |
Y88C |
probably damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r61 |
G |
A |
7: 41,949,613 (GRCm39) |
V678M |
probably damaging |
Het |
| Wdfy3 |
A |
T |
5: 102,042,894 (GRCm39) |
Y1937* |
probably null |
Het |
|
| Other mutations in Lrp12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02501:Lrp12
|
APN |
15 |
39,741,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02850:Lrp12
|
APN |
15 |
39,741,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03365:Lrp12
|
APN |
15 |
39,735,917 (GRCm39) |
missense |
probably benign |
|
|
R0010:Lrp12
|
UTSW |
15 |
39,741,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0047:Lrp12
|
UTSW |
15 |
39,741,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0416:Lrp12
|
UTSW |
15 |
39,742,307 (GRCm39) |
splice site |
probably benign |
|
|
R0840:Lrp12
|
UTSW |
15 |
39,739,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1053:Lrp12
|
UTSW |
15 |
39,741,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1158:Lrp12
|
UTSW |
15 |
39,741,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1288:Lrp12
|
UTSW |
15 |
39,741,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1350:Lrp12
|
UTSW |
15 |
39,741,646 (GRCm39) |
nonsense |
probably null |
|
|
R1416:Lrp12
|
UTSW |
15 |
39,742,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1548:Lrp12
|
UTSW |
15 |
39,735,902 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1691:Lrp12
|
UTSW |
15 |
39,735,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1696:Lrp12
|
UTSW |
15 |
39,741,757 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2050:Lrp12
|
UTSW |
15 |
39,735,985 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2513:Lrp12
|
UTSW |
15 |
39,739,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3415:Lrp12
|
UTSW |
15 |
39,741,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3417:Lrp12
|
UTSW |
15 |
39,741,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4118:Lrp12
|
UTSW |
15 |
39,741,361 (GRCm39) |
nonsense |
probably null |
|
|
R4167:Lrp12
|
UTSW |
15 |
39,748,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4214:Lrp12
|
UTSW |
15 |
39,735,976 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4643:Lrp12
|
UTSW |
15 |
39,735,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5008:Lrp12
|
UTSW |
15 |
39,741,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5061:Lrp12
|
UTSW |
15 |
39,741,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5165:Lrp12
|
UTSW |
15 |
39,735,857 (GRCm39) |
missense |
probably benign |
|
|
R5910:Lrp12
|
UTSW |
15 |
39,739,439 (GRCm39) |
splice site |
probably null |
|
|
R6038:Lrp12
|
UTSW |
15 |
39,735,776 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6038:Lrp12
|
UTSW |
15 |
39,735,776 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6047:Lrp12
|
UTSW |
15 |
39,735,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6351:Lrp12
|
UTSW |
15 |
39,741,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6392:Lrp12
|
UTSW |
15 |
39,735,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7026:Lrp12
|
UTSW |
15 |
39,743,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8306:Lrp12
|
UTSW |
15 |
39,741,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8469:Lrp12
|
UTSW |
15 |
39,735,791 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8544:Lrp12
|
UTSW |
15 |
39,741,970 (GRCm39) |
nonsense |
probably null |
|
|
R9320:Lrp12
|
UTSW |
15 |
39,741,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Lrp12
|
UTSW |
15 |
39,741,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation