Incidental Mutation 'R7963:Lrp3'
| ID |
650220 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrp3
|
| Ensembl Gene |
ENSMUSG00000001802 |
| Gene Name |
low density lipoprotein receptor-related protein 3 |
| Synonyms |
|
| MMRRC Submission |
046006-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R7963 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
34900303-34914791 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 34902404 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 579
(Q579*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114026
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001854]
[ENSMUST00000118444]
[ENSMUST00000122409]
[ENSMUST00000131048]
|
| AlphaFold |
E9Q1T6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001854
|
| SMART Domains |
Protein: ENSMUSP00000001854
Gene: ENSMUSG00000030495
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
37 |
N/A |
INTRINSIC |
|
Pfam:AA_permease_2
|
46 |
474 |
4.8e-65 |
PFAM |
|
Pfam:AA_permease
|
51 |
467 |
9.3e-37 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000118444
AA Change: Q558*
|
| SMART Domains |
Protein: ENSMUSP00000113406
Gene: ENSMUSG00000001802
AA Change: Q558*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
35 |
N/A |
INTRINSIC |
|
CUB
|
43 |
159 |
9.97e-20 |
SMART |
|
LDLa
|
165 |
202 |
7.21e-11 |
SMART |
|
LDLa
|
211 |
251 |
1.37e-11 |
SMART |
|
CUB
|
254 |
365 |
1.98e-3 |
SMART |
|
LDLa
|
367 |
414 |
1.85e-1 |
SMART |
|
LDLa
|
415 |
453 |
4.44e-3 |
SMART |
|
LDLa
|
454 |
490 |
8.74e-10 |
SMART |
|
transmembrane domain
|
497 |
519 |
N/A |
INTRINSIC |
|
low complexity region
|
584 |
606 |
N/A |
INTRINSIC |
|
low complexity region
|
641 |
652 |
N/A |
INTRINSIC |
|
low complexity region
|
674 |
684 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000122409
AA Change: Q579*
|
| SMART Domains |
Protein: ENSMUSP00000114026
Gene: ENSMUSG00000001802
AA Change: Q579*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
35 |
N/A |
INTRINSIC |
|
CUB
|
64 |
180 |
9.97e-20 |
SMART |
|
LDLa
|
186 |
223 |
7.21e-11 |
SMART |
|
LDLa
|
232 |
272 |
1.37e-11 |
SMART |
|
CUB
|
275 |
386 |
1.98e-3 |
SMART |
|
LDLa
|
388 |
435 |
1.85e-1 |
SMART |
|
LDLa
|
436 |
474 |
4.44e-3 |
SMART |
|
LDLa
|
475 |
511 |
8.74e-10 |
SMART |
|
transmembrane domain
|
518 |
540 |
N/A |
INTRINSIC |
|
low complexity region
|
605 |
627 |
N/A |
INTRINSIC |
|
low complexity region
|
662 |
673 |
N/A |
INTRINSIC |
|
low complexity region
|
695 |
705 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131048
|
| SMART Domains |
Protein: ENSMUSP00000118331
Gene: ENSMUSG00000030495
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
37 |
N/A |
INTRINSIC |
|
Pfam:AA_permease_2
|
46 |
346 |
8.6e-48 |
PFAM |
|
Pfam:AA_permease
|
51 |
346 |
1e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146959
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
G |
13: 77,340,673 (GRCm39) |
K101E |
probably benign |
Het |
| 4930407I10Rik |
A |
G |
15: 81,948,137 (GRCm39) |
K678R |
possibly damaging |
Het |
| Akr1b10 |
G |
C |
6: 34,364,643 (GRCm39) |
A35P |
possibly damaging |
Het |
| Arhgef10l |
T |
C |
4: 140,306,736 (GRCm39) |
E106G |
probably damaging |
Het |
| Atp9a |
T |
C |
2: 168,516,732 (GRCm39) |
Y445C |
probably damaging |
Het |
| Btbd18 |
T |
C |
2: 84,498,239 (GRCm39) |
S626P |
probably benign |
Het |
| Cdh23 |
A |
T |
10: 60,171,967 (GRCm39) |
N1738K |
probably damaging |
Het |
| Cdv3 |
T |
C |
9: 103,241,210 (GRCm39) |
D119G |
probably damaging |
Het |
| Cep295 |
A |
G |
9: 15,244,737 (GRCm39) |
F1240L |
possibly damaging |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Ctsr |
C |
A |
13: 61,310,276 (GRCm39) |
V127L |
probably damaging |
Het |
| Dlg1 |
G |
A |
16: 31,609,119 (GRCm39) |
R271Q |
probably null |
Het |
| Dnaaf11 |
A |
T |
15: 66,252,366 (GRCm39) |
D433E |
probably damaging |
Het |
| Dnajc1 |
G |
A |
2: 18,227,535 (GRCm39) |
T377I |
possibly damaging |
Het |
| F2rl3 |
T |
C |
8: 73,489,333 (GRCm39) |
Y187H |
probably damaging |
Het |
| Fgf1 |
A |
T |
18: 38,980,167 (GRCm39) |
V69E |
probably damaging |
Het |
| Garem1 |
T |
C |
18: 21,281,844 (GRCm39) |
K171E |
probably damaging |
Het |
| H3c13 |
C |
A |
3: 96,176,309 (GRCm39) |
Y100* |
probably null |
Het |
| Il2ra |
G |
A |
2: 11,679,235 (GRCm39) |
R65H |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,817,947 (GRCm39) |
I2428V |
|
Het |
| Ncoa6 |
G |
A |
2: 155,247,916 (GRCm39) |
T1796I |
probably benign |
Het |
| Ncor1 |
T |
C |
11: 62,225,359 (GRCm39) |
I747V |
probably benign |
Het |
| Nfkb2 |
C |
T |
19: 46,298,358 (GRCm39) |
T554M |
possibly damaging |
Het |
| Nrde2 |
T |
C |
12: 100,116,127 (GRCm39) |
D119G |
probably damaging |
Het |
| Odf2 |
C |
A |
2: 29,816,112 (GRCm39) |
Q720K |
probably benign |
Het |
| Or4c52 |
T |
C |
2: 89,846,003 (GRCm39) |
V243A |
possibly damaging |
Het |
| Or4k41 |
T |
A |
2: 111,279,971 (GRCm39) |
L162Q |
possibly damaging |
Het |
| Or5w1b |
C |
T |
2: 87,475,769 (GRCm39) |
E233K |
probably benign |
Het |
| Or8k33 |
T |
C |
2: 86,383,639 (GRCm39) |
I276M |
possibly damaging |
Het |
| Pcx |
T |
C |
19: 4,652,034 (GRCm39) |
V94A |
probably damaging |
Het |
| Pdxdc1 |
A |
T |
16: 13,694,030 (GRCm39) |
Y131N |
possibly damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Plod2 |
A |
G |
9: 92,487,499 (GRCm39) |
H606R |
probably benign |
Het |
| Ptp4a2 |
A |
G |
4: 129,733,237 (GRCm39) |
|
probably benign |
Het |
| Rsl1 |
A |
G |
13: 67,330,173 (GRCm39) |
E207G |
probably damaging |
Het |
| Slc28a3 |
A |
G |
13: 58,724,580 (GRCm39) |
Y225H |
probably damaging |
Het |
| Spag17 |
T |
A |
3: 99,929,954 (GRCm39) |
M551K |
probably benign |
Het |
| Ssh2 |
C |
A |
11: 77,312,182 (GRCm39) |
A231D |
possibly damaging |
Het |
| Stab2 |
A |
G |
10: 86,683,887 (GRCm39) |
|
probably null |
Het |
| Stac2 |
T |
C |
11: 97,932,403 (GRCm39) |
T197A |
probably benign |
Het |
| Syne2 |
T |
A |
12: 76,067,174 (GRCm39) |
L4291Q |
probably benign |
Het |
| Vmn2r38 |
A |
T |
7: 9,095,854 (GRCm39) |
D179E |
probably benign |
Het |
| Zfp597 |
T |
C |
16: 3,689,022 (GRCm39) |
D51G |
probably benign |
Het |
| Zfp64 |
A |
T |
2: 168,793,538 (GRCm39) |
F69L |
probably benign |
Het |
|
| Other mutations in Lrp3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00656:Lrp3
|
APN |
7 |
34,905,453 (GRCm39) |
splice site |
probably benign |
|
|
IGL01714:Lrp3
|
APN |
7 |
34,905,496 (GRCm39) |
splice site |
probably null |
|
|
IGL03033:Lrp3
|
APN |
7 |
34,902,052 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL03166:Lrp3
|
APN |
7 |
34,901,905 (GRCm39) |
missense |
probably benign |
0.00 |
|
Blackball
|
UTSW |
7 |
34,905,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
lowball
|
UTSW |
7 |
34,903,593 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4434001:Lrp3
|
UTSW |
7 |
34,903,420 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0416:Lrp3
|
UTSW |
7 |
34,901,778 (GRCm39) |
missense |
probably benign |
|
|
R0733:Lrp3
|
UTSW |
7 |
34,901,545 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0907:Lrp3
|
UTSW |
7 |
34,902,718 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1437:Lrp3
|
UTSW |
7 |
34,912,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1591:Lrp3
|
UTSW |
7 |
34,901,790 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1625:Lrp3
|
UTSW |
7 |
34,903,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1703:Lrp3
|
UTSW |
7 |
34,912,586 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3976:Lrp3
|
UTSW |
7 |
34,903,530 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4196:Lrp3
|
UTSW |
7 |
34,902,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4679:Lrp3
|
UTSW |
7 |
34,903,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5686:Lrp3
|
UTSW |
7 |
34,902,910 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5836:Lrp3
|
UTSW |
7 |
34,902,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6160:Lrp3
|
UTSW |
7 |
34,903,548 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6342:Lrp3
|
UTSW |
7 |
34,901,731 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6364:Lrp3
|
UTSW |
7 |
34,903,134 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6415:Lrp3
|
UTSW |
7 |
34,903,593 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6502:Lrp3
|
UTSW |
7 |
34,903,413 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6747:Lrp3
|
UTSW |
7 |
34,910,862 (GRCm39) |
missense |
probably benign |
|
|
R7205:Lrp3
|
UTSW |
7 |
34,902,051 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7232:Lrp3
|
UTSW |
7 |
34,905,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7522:Lrp3
|
UTSW |
7 |
34,903,755 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7870:Lrp3
|
UTSW |
7 |
34,910,922 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9094:Lrp3
|
UTSW |
7 |
34,903,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9242:Lrp3
|
UTSW |
7 |
34,901,934 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9474:Lrp3
|
UTSW |
7 |
34,903,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Lrp3
|
UTSW |
7 |
34,902,437 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCCAGGGACTAATCTGTG -3'
(R):5'- TCTTCCGTTTCCCTGGAGAAAG -3'
Sequencing Primer
(F):5'- AGGGACTAATCTGTGCTTCCAC -3'
(R):5'- AGATCTCACTACATTCCAGGCTATG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation