Incidental Mutation 'R3417:Lrp12'
ID |
266864 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrp12
|
Ensembl Gene |
ENSMUSG00000022305 |
Gene Name |
low density lipoprotein-related protein 12 |
Synonyms |
C820005L12Rik |
MMRRC Submission |
040635-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.124)
|
Stock # |
R3417 (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 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: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
Validation Efficiency |
98% (54/55) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc5 |
A |
G |
16: 20,224,302 (GRCm39) |
|
probably benign |
Het |
Adgrl2 |
T |
C |
3: 148,564,965 (GRCm39) |
Y201C |
probably damaging |
Het |
Ankar |
A |
G |
1: 72,698,135 (GRCm39) |
|
probably null |
Het |
Ankrd17 |
G |
A |
5: 90,391,772 (GRCm39) |
T1857I |
possibly damaging |
Het |
Atp6v0d2 |
A |
G |
4: 19,888,829 (GRCm39) |
|
probably benign |
Het |
Cep170 |
G |
T |
1: 176,583,610 (GRCm39) |
P923Q |
probably damaging |
Het |
Cfc1 |
A |
T |
1: 34,575,457 (GRCm39) |
R44* |
probably null |
Het |
Col6a1 |
C |
T |
10: 76,548,203 (GRCm39) |
V618M |
unknown |
Het |
Crmp1 |
A |
T |
5: 37,426,031 (GRCm39) |
I159L |
possibly damaging |
Het |
Crocc |
G |
A |
4: 140,773,758 (GRCm39) |
T103I |
possibly damaging |
Het |
Cyp4f39 |
T |
C |
17: 32,708,716 (GRCm39) |
V421A |
possibly damaging |
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 |
Fsip2 |
G |
A |
2: 82,816,854 (GRCm39) |
V4196I |
possibly damaging |
Het |
Icosl |
A |
T |
10: 77,907,869 (GRCm39) |
N143I |
possibly damaging |
Het |
Igsf9b |
G |
A |
9: 27,220,774 (GRCm39) |
V47I |
possibly damaging |
Het |
Irag1 |
T |
C |
7: 110,476,161 (GRCm39) |
T597A |
possibly damaging |
Het |
Jrk |
A |
G |
15: 74,578,734 (GRCm39) |
Y184H |
probably damaging |
Het |
Kdm5b |
T |
C |
1: 134,515,715 (GRCm39) |
L113P |
probably damaging |
Het |
Klhl42 |
G |
A |
6: 147,009,378 (GRCm39) |
V406M |
probably damaging |
Het |
Lrrc37 |
A |
T |
11: 103,505,435 (GRCm39) |
S2178T |
possibly damaging |
Het |
Map4k5 |
A |
T |
12: 69,856,038 (GRCm39) |
V716E |
probably damaging |
Het |
Mcm9 |
T |
C |
10: 53,413,503 (GRCm39) |
T1264A |
possibly damaging |
Het |
Mia3 |
T |
A |
1: 183,143,444 (GRCm39) |
D100V |
probably damaging |
Het |
Mrgprb2 |
C |
A |
7: 48,202,281 (GRCm39) |
R148L |
probably damaging |
Het |
Mterf1a |
A |
G |
5: 3,940,795 (GRCm39) |
S358P |
probably damaging |
Het |
Myd88 |
T |
C |
9: 119,166,556 (GRCm39) |
I253V |
possibly damaging |
Het |
Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
Nqo2 |
G |
T |
13: 34,163,616 (GRCm39) |
V92L |
probably benign |
Het |
Or4k2 |
T |
A |
14: 50,424,069 (GRCm39) |
T202S |
possibly damaging |
Het |
Pcdhb15 |
A |
T |
18: 37,608,216 (GRCm39) |
N483Y |
probably damaging |
Het |
Pds5a |
A |
G |
5: 65,795,235 (GRCm39) |
F667S |
probably damaging |
Het |
Plxnb1 |
C |
A |
9: 108,929,828 (GRCm39) |
A228E |
probably damaging |
Het |
Prpsap1 |
T |
C |
11: 116,369,410 (GRCm39) |
S179G |
probably benign |
Het |
Rtl4 |
C |
T |
X: 143,902,901 (GRCm39) |
Q108* |
probably null |
Het |
Scn8a |
A |
G |
15: 100,869,549 (GRCm39) |
|
probably benign |
Het |
Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
Slc44a1 |
G |
A |
4: 53,553,549 (GRCm39) |
V519I |
probably benign |
Het |
Smg1 |
G |
C |
7: 117,748,076 (GRCm39) |
|
probably benign |
Het |
Sptlc2 |
A |
G |
12: 87,393,582 (GRCm39) |
|
probably benign |
Het |
St13 |
A |
T |
15: 81,253,651 (GRCm39) |
|
probably benign |
Het |
Strbp |
C |
G |
2: 37,480,737 (GRCm39) |
R610T |
possibly damaging |
Het |
Tas2r124 |
A |
T |
6: 132,732,601 (GRCm39) |
R303S |
probably benign |
Het |
Tex55 |
A |
C |
16: 38,649,102 (GRCm39) |
D2E |
probably benign |
Het |
Tgm3 |
G |
A |
2: 129,889,692 (GRCm39) |
V629M |
possibly damaging |
Het |
Tnr |
T |
C |
1: 159,722,612 (GRCm39) |
V1019A |
probably benign |
Het |
Ttn |
A |
T |
2: 76,615,908 (GRCm39) |
C14932* |
probably null |
Het |
Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
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 |
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'- GGAAAGTCATCTTACGGTTCACTG -3'
Sequencing Primer
(F):5'- GACACCATTTCGAGAACATGG -3'
(R):5'- CTGACTTTAAACTTGATGGTACCGG -3'
|
Posted On |
2015-02-18 |