Incidental Mutation 'IGL03365:Lrp12'
ID |
420067 |
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 # |
IGL03365
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
39733985-39807390 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 39735917 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 672
(S672T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105934
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022916]
[ENSMUST00000110305]
|
AlphaFold |
Q8BUJ9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022916
AA Change: S691T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000022916 Gene: ENSMUSG00000022305 AA Change: S691T
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 benign
Transcript: ENSMUST00000110305
AA Change: S672T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000105934 Gene: ENSMUSG00000022305 AA Change: S672T
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 |
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1500035N22Rik |
T |
G |
5: 25,202,809 (GRCm39) |
|
probably benign |
Het |
Adam6a |
T |
A |
12: 113,507,765 (GRCm39) |
I46N |
possibly damaging |
Het |
Adipor1 |
A |
G |
1: 134,359,380 (GRCm39) |
D371G |
possibly damaging |
Het |
Akr1c21 |
C |
T |
13: 4,633,851 (GRCm39) |
P307S |
probably benign |
Het |
Aoc1l3 |
A |
G |
6: 48,965,531 (GRCm39) |
D513G |
probably damaging |
Het |
Asxl1 |
T |
A |
2: 153,243,674 (GRCm39) |
I1408N |
probably damaging |
Het |
Avil |
T |
C |
10: 126,846,852 (GRCm39) |
V472A |
probably damaging |
Het |
Bpifa6 |
C |
A |
2: 153,831,204 (GRCm39) |
Q257K |
possibly damaging |
Het |
Cacna2d4 |
G |
T |
6: 119,248,225 (GRCm39) |
V380L |
probably benign |
Het |
Clip1 |
A |
C |
5: 123,721,649 (GRCm39) |
S1111A |
probably damaging |
Het |
Dennd4c |
A |
G |
4: 86,725,663 (GRCm39) |
|
probably null |
Het |
Dock8 |
C |
T |
19: 25,077,048 (GRCm39) |
P506L |
possibly damaging |
Het |
Ecsit |
A |
C |
9: 21,987,822 (GRCm39) |
H72Q |
probably damaging |
Het |
Eif1b |
T |
A |
9: 120,323,186 (GRCm39) |
D15E |
probably benign |
Het |
Enpp1 |
A |
G |
10: 24,544,923 (GRCm39) |
Y319H |
probably damaging |
Het |
Fat3 |
T |
C |
9: 15,907,765 (GRCm39) |
N2746D |
probably damaging |
Het |
Fgf20 |
G |
T |
8: 40,732,932 (GRCm39) |
L115I |
possibly damaging |
Het |
Hip1r |
C |
T |
5: 124,138,230 (GRCm39) |
R775W |
probably damaging |
Het |
Hycc1 |
A |
T |
5: 24,188,158 (GRCm39) |
Y245N |
probably benign |
Het |
Morf4l2 |
A |
G |
X: 135,634,464 (GRCm39) |
Y255H |
probably benign |
Het |
Mri1 |
A |
G |
8: 84,978,262 (GRCm39) |
V343A |
possibly damaging |
Het |
Mybphl |
T |
A |
3: 108,272,314 (GRCm39) |
M1K |
probably null |
Het |
Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
Ofd1 |
C |
A |
X: 165,175,512 (GRCm39) |
V951F |
probably damaging |
Het |
Or4k51 |
G |
T |
2: 111,584,772 (GRCm39) |
M59I |
possibly damaging |
Het |
Or51r1 |
G |
T |
7: 102,227,836 (GRCm39) |
V45F |
probably benign |
Het |
Or6c208 |
T |
A |
10: 129,224,108 (GRCm39) |
V202D |
possibly damaging |
Het |
Parp12 |
G |
A |
6: 39,079,581 (GRCm39) |
R310W |
probably damaging |
Het |
Pcdh11x |
T |
A |
X: 119,425,935 (GRCm39) |
D1019E |
probably benign |
Het |
Ppp1r9a |
T |
A |
6: 5,110,993 (GRCm39) |
|
probably benign |
Het |
Ptprz1 |
T |
A |
6: 23,030,581 (GRCm39) |
|
probably benign |
Het |
Qser1 |
T |
A |
2: 104,617,344 (GRCm39) |
N1156I |
probably damaging |
Het |
Rgs3 |
T |
A |
4: 62,607,912 (GRCm39) |
D59E |
probably benign |
Het |
Rims2 |
T |
C |
15: 39,339,937 (GRCm39) |
F917S |
probably damaging |
Het |
Sap30bp |
G |
A |
11: 115,855,078 (GRCm39) |
V263M |
possibly damaging |
Het |
Scart2 |
T |
A |
7: 139,876,682 (GRCm39) |
V691E |
probably damaging |
Het |
Scfd2 |
G |
T |
5: 74,691,596 (GRCm39) |
H229N |
possibly damaging |
Het |
Sspo |
T |
C |
6: 48,436,349 (GRCm39) |
V1233A |
possibly damaging |
Het |
Stam |
T |
A |
2: 14,151,201 (GRCm39) |
Y519* |
probably null |
Het |
Synj2 |
A |
G |
17: 6,069,679 (GRCm39) |
T602A |
probably damaging |
Het |
Tas2r126 |
C |
T |
6: 42,412,391 (GRCm39) |
A308V |
probably benign |
Het |
Tm4sf20 |
T |
C |
1: 82,745,948 (GRCm39) |
|
probably benign |
Het |
Ttc23 |
G |
A |
7: 67,312,085 (GRCm39) |
|
probably benign |
Het |
Vmn1r90 |
T |
C |
7: 14,295,229 (GRCm39) |
I290V |
probably damaging |
Het |
Xirp1 |
A |
C |
9: 119,847,605 (GRCm39) |
L426W |
probably damaging |
Het |
Zgrf1 |
T |
G |
3: 127,392,423 (GRCm39) |
F430L |
possibly damaging |
Het |
|
Other mutations in Lrp12 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01953:Lrp12
|
APN |
15 |
39,741,497 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
2016-08-02 |