Incidental Mutation 'R0840:Lrp12'
| ID |
77137 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrp12
|
| Ensembl Gene |
ENSMUSG00000022305 |
| Gene Name |
low density lipoprotein-related protein 12 |
| Synonyms |
C820005L12Rik |
| MMRRC Submission |
039019-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
R0840 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
39733985-39807390 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 39739554 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 529
(S529P)
|
| 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: S548P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000022916
Gene: ENSMUSG00000022305
AA Change: S548P
| 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: S529P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105934
Gene: ENSMUSG00000022305
AA Change: S529P
| 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 |
0.1691 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.1%
|
| Validation Efficiency |
100% (51/51) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
C |
G |
12: 71,205,657 (GRCm39) |
Q434E |
probably benign |
Het |
| A930011G23Rik |
T |
C |
5: 99,382,547 (GRCm39) |
T234A |
probably benign |
Het |
| Acot5 |
G |
A |
12: 84,122,614 (GRCm39) |
W399* |
probably null |
Het |
| Adra1a |
A |
G |
14: 66,965,159 (GRCm39) |
E383G |
possibly damaging |
Het |
| Ahnak |
T |
A |
19: 8,982,427 (GRCm39) |
I1237N |
probably damaging |
Het |
| Bsg |
A |
G |
10: 79,545,519 (GRCm39) |
T28A |
probably damaging |
Het |
| Cacna1i |
A |
T |
15: 80,243,150 (GRCm39) |
I436F |
possibly damaging |
Het |
| Cd109 |
T |
C |
9: 78,571,612 (GRCm39) |
I417T |
probably benign |
Het |
| Cep295 |
A |
T |
9: 15,245,611 (GRCm39) |
D948E |
probably benign |
Het |
| Cfap92 |
G |
T |
6: 87,657,260 (GRCm39) |
|
noncoding transcript |
Het |
| Clcn3 |
C |
A |
8: 61,382,188 (GRCm39) |
V467F |
probably benign |
Het |
| Cntnap3 |
T |
C |
13: 64,935,724 (GRCm39) |
S380G |
possibly damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dll4 |
T |
A |
2: 119,156,966 (GRCm39) |
N79K |
probably benign |
Het |
| Ep300 |
A |
T |
15: 81,529,134 (GRCm39) |
N1558I |
unknown |
Het |
| Fblim1 |
A |
G |
4: 141,308,320 (GRCm39) |
F330L |
possibly damaging |
Het |
| Fbxo46 |
T |
A |
7: 18,871,073 (GRCm39) |
M564K |
possibly damaging |
Het |
| Fnip1 |
T |
A |
11: 54,384,007 (GRCm39) |
|
probably benign |
Het |
| Foxl2 |
A |
T |
9: 98,837,984 (GRCm39) |
K91* |
probably null |
Het |
| Gapvd1 |
C |
A |
2: 34,619,125 (GRCm39) |
V83F |
probably benign |
Het |
| Guk1 |
G |
A |
11: 59,075,921 (GRCm39) |
R146C |
probably damaging |
Het |
| Irf8 |
G |
A |
8: 121,480,220 (GRCm39) |
G153S |
probably benign |
Het |
| Kcnu1 |
T |
A |
8: 26,403,712 (GRCm39) |
M1K |
probably null |
Het |
| Krt32 |
G |
A |
11: 99,972,068 (GRCm39) |
P427S |
probably benign |
Het |
| Mettl22 |
T |
C |
16: 8,300,021 (GRCm39) |
V134A |
probably damaging |
Het |
| Morc2b |
G |
T |
17: 33,355,086 (GRCm39) |
H895Q |
probably benign |
Het |
| Nrros |
T |
C |
16: 31,962,241 (GRCm39) |
D556G |
probably damaging |
Het |
| Nrxn3 |
A |
G |
12: 90,298,567 (GRCm39) |
S1367G |
possibly damaging |
Het |
| Or10al7 |
A |
G |
17: 38,366,463 (GRCm39) |
F7S |
probably benign |
Het |
| Or56b1b |
A |
T |
7: 108,164,823 (GRCm39) |
S60T |
probably benign |
Het |
| Pcnx3 |
T |
A |
19: 5,735,729 (GRCm39) |
|
probably null |
Het |
| Pgap2 |
A |
T |
7: 101,886,655 (GRCm39) |
M226L |
probably damaging |
Het |
| Pik3c2g |
A |
G |
6: 139,841,798 (GRCm39) |
I616M |
probably damaging |
Het |
| Pisd |
A |
G |
5: 32,894,656 (GRCm39) |
I380T |
probably damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,420,745 (GRCm39) |
I2454V |
probably damaging |
Het |
| Plpp2 |
A |
G |
10: 79,363,378 (GRCm39) |
I151T |
probably benign |
Het |
| Polr3a |
G |
A |
14: 24,502,268 (GRCm39) |
T1295I |
possibly damaging |
Het |
| Pot1a |
T |
C |
6: 25,748,283 (GRCm39) |
|
probably benign |
Het |
| Prpf39 |
T |
G |
12: 65,094,980 (GRCm39) |
N219K |
probably benign |
Het |
| Rnf17 |
T |
A |
14: 56,712,904 (GRCm39) |
N790K |
probably damaging |
Het |
| Slit3 |
C |
T |
11: 35,514,263 (GRCm39) |
|
probably benign |
Het |
| Stx1a |
T |
A |
5: 135,070,088 (GRCm39) |
|
probably benign |
Het |
| Tenm3 |
C |
A |
8: 48,788,777 (GRCm39) |
V690F |
probably damaging |
Het |
| Tmcc3 |
A |
G |
10: 94,414,633 (GRCm39) |
I143V |
probably benign |
Het |
| Tmem41b |
G |
A |
7: 109,580,256 (GRCm39) |
S36F |
probably damaging |
Het |
| Trim5 |
A |
T |
7: 103,914,978 (GRCm39) |
W364R |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,617,155 (GRCm39) |
Y16403C |
probably damaging |
Het |
| Vps8 |
T |
C |
16: 21,275,071 (GRCm39) |
S210P |
probably damaging |
Het |
| Zbtb3 |
T |
A |
19: 8,780,821 (GRCm39) |
S145T |
possibly damaging |
Het |
| Zfp882 |
T |
A |
8: 72,668,530 (GRCm39) |
C452* |
probably null |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGGCAAATGTTCACTCCTCTTCAAT -3'
(R):5'- ACATCAGCCTTACATTCCCAGAGTAGA -3'
Sequencing Primer
(F):5'- CACTTAAAATGGGTTGCTATGCC -3'
(R):5'- CCTTACATTCCCAGAGTAGAAGTGG -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation