Incidental Mutation 'R1053:Lrp12'
| ID |
94144 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrp12
|
| Ensembl Gene |
ENSMUSG00000022305 |
| Gene Name |
low density lipoprotein-related protein 12 |
| Synonyms |
C820005L12Rik |
| MMRRC Submission |
039143-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
R1053 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
39733985-39807390 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 39741377 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Cysteine
at position 446
(F446C)
|
| 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: F465C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022916
Gene: ENSMUSG00000022305
AA Change: F465C
| 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: F446C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105934
Gene: ENSMUSG00000022305
AA Change: F446C
| 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 |
0.4994 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.8%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam25 |
A |
T |
8: 41,207,768 (GRCm39) |
N345Y |
probably benign |
Het |
| Ampd3 |
G |
A |
7: 110,387,887 (GRCm39) |
G107S |
probably damaging |
Het |
| Bcas3 |
T |
A |
11: 85,448,236 (GRCm39) |
I632N |
probably benign |
Het |
| Cald1 |
G |
T |
6: 34,732,577 (GRCm39) |
R83L |
probably damaging |
Het |
| Cds2 |
T |
A |
2: 132,147,180 (GRCm39) |
L420Q |
probably damaging |
Het |
| Col6a1 |
A |
T |
10: 76,556,800 (GRCm39) |
Y266N |
probably damaging |
Het |
| Ctps1 |
A |
G |
4: 120,400,919 (GRCm39) |
|
probably null |
Het |
| Enam |
A |
G |
5: 88,651,878 (GRCm39) |
N1129S |
possibly damaging |
Het |
| Erc1 |
T |
C |
6: 119,773,887 (GRCm39) |
E356G |
probably damaging |
Het |
| Fbxl4 |
T |
A |
4: 22,427,166 (GRCm39) |
V469E |
probably benign |
Het |
| G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
| Gm11568 |
A |
G |
11: 99,748,887 (GRCm39) |
T31A |
unknown |
Het |
| Grm2 |
T |
G |
9: 106,525,356 (GRCm39) |
Y453S |
probably damaging |
Het |
| Htt |
A |
G |
5: 35,008,561 (GRCm39) |
|
probably null |
Het |
| Jakmip1 |
A |
G |
5: 37,291,593 (GRCm39) |
I681V |
possibly damaging |
Het |
| Lair1 |
A |
G |
7: 4,031,784 (GRCm39) |
S108P |
probably damaging |
Het |
| Ncoa6 |
C |
T |
2: 155,275,960 (GRCm39) |
R95Q |
probably damaging |
Het |
| Nup210 |
T |
C |
6: 91,005,793 (GRCm39) |
T614A |
probably benign |
Het |
| Or1b1 |
T |
C |
2: 36,995,476 (GRCm39) |
Y62C |
probably damaging |
Het |
| Or52p2 |
A |
T |
7: 102,237,166 (GRCm39) |
Y261* |
probably null |
Het |
| Or8b12 |
T |
C |
9: 37,658,131 (GRCm39) |
S234P |
probably damaging |
Het |
| Ppp1r12a |
T |
C |
10: 108,098,212 (GRCm39) |
S311P |
probably damaging |
Het |
| Rsph3a |
C |
A |
17: 8,164,736 (GRCm39) |
P32Q |
probably benign |
Het |
| Sorl1 |
T |
C |
9: 41,902,752 (GRCm39) |
T1602A |
probably benign |
Het |
| Svil |
C |
G |
18: 5,056,690 (GRCm39) |
P521R |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,652,509 (GRCm39) |
Y1580C |
probably damaging |
Het |
| Vwce |
T |
C |
19: 10,641,463 (GRCm39) |
F730L |
probably benign |
Het |
| Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
| Zc2hc1c |
A |
G |
12: 85,343,330 (GRCm39) |
D489G |
probably 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCACCCCAATGCAATGACGAG -3'
(R):5'- CGCTACTTACCAAGTCGATGGCTTC -3'
Sequencing Primer
(F):5'- GCAGCAGGCCACAGATG -3'
(R):5'- GGTACTGGCATTGCCCAAAC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation