Incidental Mutation 'R8469:Lrp12'
| ID |
656965 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrp12
|
| Ensembl Gene |
ENSMUSG00000022305 |
| Gene Name |
low density lipoprotein-related protein 12 |
| Synonyms |
C820005L12Rik |
| MMRRC Submission |
067913-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R8469 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
39733985-39807390 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 39735791 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 733
(T733A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022916
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022916]
[ENSMUST00000110305]
|
| AlphaFold |
Q8BUJ9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022916
AA Change: T733A
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000022916
Gene: ENSMUSG00000022305
AA Change: T733A
| 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 benign
Transcript: ENSMUST00000110305
AA Change: T714A
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000105934
Gene: ENSMUSG00000022305
AA Change: T714A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (41/42) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
A |
G |
16: 90,852,797 (GRCm39) |
F113S |
probably damaging |
Het |
| Abcd4 |
A |
G |
12: 84,659,190 (GRCm39) |
Y189H |
probably damaging |
Het |
| Actn1 |
T |
C |
12: 80,240,457 (GRCm39) |
D210G |
possibly damaging |
Het |
| Adam28 |
C |
T |
14: 68,844,029 (GRCm39) |
V774I |
probably benign |
Het |
| Anapc1 |
A |
T |
2: 128,500,264 (GRCm39) |
|
probably null |
Het |
| Atg2b |
A |
T |
12: 105,604,170 (GRCm39) |
I1577N |
probably benign |
Het |
| Bod1l |
A |
G |
5: 41,978,834 (GRCm39) |
S827P |
possibly damaging |
Het |
| Carmil1 |
A |
T |
13: 24,296,011 (GRCm39) |
C377S |
probably damaging |
Het |
| Cplx4 |
T |
C |
18: 66,090,083 (GRCm39) |
E112G |
possibly damaging |
Het |
| Cyp4f39 |
C |
A |
17: 32,711,340 (GRCm39) |
R496S |
probably damaging |
Het |
| Dmgdh |
G |
A |
13: 93,843,175 (GRCm39) |
R337Q |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,813,895 (GRCm39) |
F345S |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,268,109 (GRCm39) |
R2844G |
probably damaging |
Het |
| Fam186a |
T |
A |
15: 99,845,186 (GRCm39) |
I353L |
unknown |
Het |
| Fam78a |
A |
G |
2: 31,959,345 (GRCm39) |
V255A |
possibly damaging |
Het |
| Ino80 |
T |
A |
2: 119,210,074 (GRCm39) |
I1406L |
probably benign |
Het |
| Itga11 |
T |
C |
9: 62,678,680 (GRCm39) |
F949S |
probably benign |
Het |
| Jmjd7 |
G |
A |
2: 119,860,643 (GRCm39) |
A57T |
possibly damaging |
Het |
| Krt1c |
T |
C |
15: 101,724,804 (GRCm39) |
T269A |
probably benign |
Het |
| Lgi4 |
A |
T |
7: 30,767,065 (GRCm39) |
D364V |
probably damaging |
Het |
| Marchf7 |
T |
A |
2: 60,064,670 (GRCm39) |
N315K |
probably benign |
Het |
| Methig1 |
A |
G |
15: 100,251,130 (GRCm39) |
I14V |
probably benign |
Het |
| Mtmr3 |
A |
T |
11: 4,481,223 (GRCm39) |
M1K |
probably null |
Het |
| Nras |
A |
G |
3: 102,966,217 (GRCm39) |
|
probably benign |
Het |
| Nsd1 |
A |
G |
13: 55,425,366 (GRCm39) |
T1508A |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 59,019,063 (GRCm39) |
T917A |
probably damaging |
Het |
| Pard6g |
T |
C |
18: 80,090,347 (GRCm39) |
V21A |
possibly damaging |
Het |
| Pcdha5 |
T |
A |
18: 37,094,798 (GRCm39) |
W436R |
probably benign |
Het |
| Pde4d |
T |
C |
13: 108,996,722 (GRCm39) |
V8A |
probably benign |
Het |
| Pou4f3 |
C |
T |
18: 42,528,339 (GRCm39) |
T94M |
probably benign |
Het |
| Prdm6 |
G |
T |
18: 53,597,758 (GRCm39) |
|
probably benign |
Het |
| Ralgapa1 |
T |
C |
12: 55,786,198 (GRCm39) |
R674G |
probably damaging |
Het |
| Rcc1 |
A |
G |
4: 132,061,445 (GRCm39) |
S368P |
probably damaging |
Het |
| Rcn2 |
T |
A |
9: 55,952,485 (GRCm39) |
V110E |
probably benign |
Het |
| Reep4 |
T |
A |
14: 70,783,180 (GRCm39) |
|
probably null |
Het |
| Rrbp1 |
T |
C |
2: 143,831,661 (GRCm39) |
I169V |
probably damaging |
Het |
| Slc2a6 |
T |
C |
2: 26,914,347 (GRCm39) |
S257G |
probably benign |
Het |
| Spag9 |
A |
G |
11: 93,982,627 (GRCm39) |
R612G |
probably damaging |
Het |
| Ssh2 |
A |
G |
11: 77,340,434 (GRCm39) |
T529A |
probably benign |
Het |
| Triobp |
A |
G |
15: 78,851,219 (GRCm39) |
S458G |
probably benign |
Het |
| Zfp729a |
G |
T |
13: 67,769,481 (GRCm39) |
H249Q |
probably damaging |
Het |
| Zfp940 |
A |
G |
7: 29,544,572 (GRCm39) |
I445T |
possibly 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 |
|
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 |
|
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'- ATTGGCATCAATGTCCGAAGC -3'
(R):5'- GTCCGATGACACTGACACAG -3'
Sequencing Primer
(F):5'- GCTCCGTCTGAAACTGGAATTAGC -3'
(R):5'- GTCCGATGACACTGACACAGAAAATG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation