Incidental Mutation 'R3415:Lrp12'
ID |
266785 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrp12
|
Ensembl Gene |
ENSMUSG00000022305 |
Gene Name |
low density lipoprotein-related protein 12 |
Synonyms |
C820005L12Rik |
MMRRC Submission |
040633-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.124)
|
Stock # |
R3415 (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 G
at 39741678 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 365
(F365L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022916
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022916]
[ENSMUST00000110305]
[ENSMUST00000228575]
|
AlphaFold |
Q8BUJ9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022916
AA Change: F365L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000022916 Gene: ENSMUSG00000022305 AA Change: F365L
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: F346L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000105934 Gene: ENSMUSG00000022305 AA Change: F346L
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 |
0.9240 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ccdc39 |
C |
G |
3: 33,868,646 (GRCm39) |
L813F |
probably benign |
Het |
Cdh13 |
A |
T |
8: 119,401,946 (GRCm39) |
D116V |
probably benign |
Het |
Cep170 |
G |
T |
1: 176,583,610 (GRCm39) |
P923Q |
probably damaging |
Het |
Chga |
A |
G |
12: 102,529,043 (GRCm39) |
E340G |
probably benign |
Het |
Cmip |
T |
A |
8: 118,076,116 (GRCm39) |
|
probably null |
Het |
Cnga4 |
A |
G |
7: 105,056,325 (GRCm39) |
Y309C |
probably damaging |
Het |
Crocc |
G |
A |
4: 140,773,758 (GRCm39) |
T103I |
possibly damaging |
Het |
Dph6 |
C |
T |
2: 114,348,768 (GRCm39) |
V267I |
probably benign |
Het |
Ero1a |
T |
C |
14: 45,525,323 (GRCm39) |
T401A |
possibly damaging |
Het |
Exoc6b |
C |
G |
6: 84,867,547 (GRCm39) |
L288F |
possibly damaging |
Het |
Ifi203 |
G |
A |
1: 173,756,326 (GRCm39) |
R486* |
probably null |
Het |
Igsf9b |
G |
A |
9: 27,220,774 (GRCm39) |
V47I |
possibly damaging |
Het |
Klhl42 |
G |
A |
6: 147,009,378 (GRCm39) |
V406M |
probably damaging |
Het |
Lims2 |
A |
T |
18: 32,077,208 (GRCm39) |
Y58F |
probably damaging |
Het |
Lrrc37 |
A |
T |
11: 103,505,435 (GRCm39) |
S2178T |
possibly damaging |
Het |
Mark4 |
T |
C |
7: 19,185,650 (GRCm39) |
D28G |
probably benign |
Het |
Mfsd13a |
C |
T |
19: 46,360,431 (GRCm39) |
R328C |
probably damaging |
Het |
Mmp1a |
A |
T |
9: 7,464,869 (GRCm39) |
K34N |
possibly damaging |
Het |
Or4k2 |
T |
A |
14: 50,424,069 (GRCm39) |
T202S |
possibly damaging |
Het |
P2rx5 |
G |
T |
11: 73,051,486 (GRCm39) |
V22L |
possibly damaging |
Het |
Pnma8a |
A |
G |
7: 16,694,879 (GRCm39) |
R245G |
possibly damaging |
Het |
Prpsap1 |
T |
C |
11: 116,369,410 (GRCm39) |
S179G |
probably benign |
Het |
Specc1 |
A |
G |
11: 62,009,245 (GRCm39) |
T334A |
probably benign |
Het |
Tas2r124 |
A |
T |
6: 132,732,601 (GRCm39) |
R303S |
probably benign |
Het |
Tm7sf2 |
A |
G |
19: 6,113,629 (GRCm39) |
Y301H |
probably damaging |
Het |
Unc13c |
G |
T |
9: 73,839,868 (GRCm39) |
H328N |
probably benign |
Het |
Zfp641 |
T |
C |
15: 98,188,421 (GRCm39) |
D153G |
probably benign |
Het |
Zp3 |
A |
G |
5: 136,014,514 (GRCm39) |
T278A |
probably benign |
Het |
Zscan2 |
T |
A |
7: 80,525,150 (GRCm39) |
S290R |
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 |
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 |
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'- AGGGTAGCAGACACCATTTCG -3'
(R):5'- TGGTGATCATCGGAAAGTCATC -3'
Sequencing Primer
(F):5'- GACACCATTTCGAGAACATGG -3'
(R):5'- CGGAAAGTCATCTTACGGTTCACTG -3'
|
Posted On |
2015-02-18 |