Incidental Mutation 'R4167:Lrp12'
| ID |
320633 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrp12
|
| Ensembl Gene |
ENSMUSG00000022305 |
| Gene Name |
low density lipoprotein-related protein 12 |
| Synonyms |
C820005L12Rik |
| MMRRC Submission |
041008-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
R4167 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
39733985-39807390 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 39748409 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 70
(T70A)
|
| 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: T89A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022916
Gene: ENSMUSG00000022305
AA Change: T89A
| 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: T70A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105934
Gene: ENSMUSG00000022305
AA Change: T70A
| 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
|
| Meta Mutation Damage Score |
0.1841 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
94% (31/33) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Casp6 |
A |
G |
3: 129,706,993 (GRCm39) |
H201R |
probably damaging |
Het |
| Cd200r3 |
T |
A |
16: 44,774,552 (GRCm39) |
D188E |
probably benign |
Het |
| Cdh16 |
A |
G |
8: 105,344,362 (GRCm39) |
L59P |
probably benign |
Het |
| Dcp2 |
T |
A |
18: 44,529,034 (GRCm39) |
Y50N |
probably damaging |
Het |
| Elk3 |
A |
G |
10: 93,101,197 (GRCm39) |
|
probably null |
Het |
| Fam78b |
T |
C |
1: 166,829,301 (GRCm39) |
V51A |
possibly damaging |
Het |
| Gabrb2 |
A |
T |
11: 42,312,155 (GRCm39) |
|
probably benign |
Het |
| Glyctk |
G |
T |
9: 106,034,961 (GRCm39) |
A35E |
probably benign |
Het |
| Kat14 |
A |
G |
2: 144,236,030 (GRCm39) |
E254G |
probably damaging |
Het |
| Kcng1 |
T |
A |
2: 168,104,617 (GRCm39) |
S410C |
probably damaging |
Het |
| Krt74 |
A |
G |
15: 101,667,304 (GRCm39) |
|
noncoding transcript |
Het |
| Man2c1 |
A |
G |
9: 57,045,310 (GRCm39) |
D473G |
probably benign |
Het |
| Mindy4 |
G |
A |
6: 55,201,331 (GRCm39) |
G339S |
possibly damaging |
Het |
| Naip1 |
C |
T |
13: 100,580,794 (GRCm39) |
G151D |
probably benign |
Het |
| Ndufaf7 |
G |
A |
17: 79,252,415 (GRCm39) |
V275I |
probably benign |
Het |
| Nppb |
T |
A |
4: 148,071,431 (GRCm39) |
L121* |
probably null |
Het |
| Oog2 |
A |
T |
4: 143,922,782 (GRCm39) |
Q349L |
probably benign |
Het |
| Or5d39 |
T |
C |
2: 87,980,189 (GRCm39) |
H58R |
probably damaging |
Het |
| Or5v1b |
T |
C |
17: 37,840,897 (GRCm39) |
S10P |
possibly damaging |
Het |
| Pcdhgb8 |
T |
G |
18: 37,895,596 (GRCm39) |
V222G |
possibly damaging |
Het |
| Plcd3 |
A |
T |
11: 102,969,290 (GRCm39) |
C226S |
probably damaging |
Het |
| Plxdc2 |
A |
G |
2: 16,570,196 (GRCm39) |
E125G |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,332,069 (GRCm39) |
E2426G |
probably damaging |
Het |
| Rraga |
T |
C |
4: 86,494,304 (GRCm39) |
V50A |
possibly damaging |
Het |
| Scmh1 |
T |
C |
4: 120,386,473 (GRCm39) |
|
probably benign |
Het |
| Slc9a9 |
A |
G |
9: 95,110,952 (GRCm39) |
Y590C |
probably damaging |
Het |
| Snx20 |
C |
T |
8: 89,354,013 (GRCm39) |
R239Q |
probably benign |
Het |
| Vmn2r59 |
A |
G |
7: 41,670,732 (GRCm39) |
|
probably benign |
Het |
| Zfp128 |
A |
G |
7: 12,624,289 (GRCm39) |
D219G |
probably benign |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGCTGAAAGAACACTGACTAG -3'
(R):5'- CTGCTGAACCAGGTCTTACTG -3'
Sequencing Primer
(F):5'- TGCTGAAAGAACACTGACTAGATCAC -3'
(R):5'- AACCAGGTCTTACTGCATGTG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation