Incidental Mutation 'R6342:Lrp3'
| ID |
513917 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrp3
|
| Ensembl Gene |
ENSMUSG00000001802 |
| Gene Name |
low density lipoprotein receptor-related protein 3 |
| Synonyms |
|
| MMRRC Submission |
044496-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
R6342 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
34900303-34914791 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 34901731 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 696
(D696N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113406
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001854]
[ENSMUST00000118444]
[ENSMUST00000122409]
[ENSMUST00000131048]
[ENSMUST00000167441]
|
| 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 benign
Transcript: ENSMUST00000118444
AA Change: D696N
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000113406
Gene: ENSMUSG00000001802
AA Change: D696N
| 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 benign
Transcript: ENSMUST00000122409
AA Change: D717N
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000114026
Gene: ENSMUSG00000001802
AA Change: D717N
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153163
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155404
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167441
|
| SMART Domains |
Protein: ENSMUSP00000129954
Gene: ENSMUSG00000030495
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
37 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0599 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
| Validation Efficiency |
97% (31/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anxa9 |
T |
C |
3: 95,204,101 (GRCm39) |
*346W |
probably null |
Het |
| Ap4b1 |
T |
C |
3: 103,720,684 (GRCm39) |
V118A |
possibly damaging |
Het |
| Atrnl1 |
T |
C |
19: 57,626,942 (GRCm39) |
S183P |
probably damaging |
Het |
| Cadm3 |
T |
C |
1: 173,168,675 (GRCm39) |
T298A |
possibly damaging |
Het |
| Crtc1 |
A |
C |
8: 70,892,207 (GRCm39) |
M1R |
probably null |
Het |
| Dalrd3 |
A |
T |
9: 108,448,322 (GRCm39) |
K291* |
probably null |
Het |
| Dhrs9 |
C |
T |
2: 69,223,531 (GRCm39) |
T93M |
probably benign |
Het |
| Dnmt1 |
G |
T |
9: 20,821,089 (GRCm39) |
S1267* |
probably null |
Het |
| Dsg1b |
T |
C |
18: 20,523,300 (GRCm39) |
I109T |
probably damaging |
Het |
| Epha3 |
C |
A |
16: 63,403,863 (GRCm39) |
R745L |
probably damaging |
Het |
| Evi2 |
A |
G |
11: 79,406,784 (GRCm39) |
S264P |
probably benign |
Het |
| Grin2a |
A |
T |
16: 9,397,198 (GRCm39) |
L963Q |
probably damaging |
Het |
| Klhdc7a |
T |
A |
4: 139,694,370 (GRCm39) |
R192S |
probably benign |
Het |
| Kynu |
G |
T |
2: 43,571,463 (GRCm39) |
D460Y |
probably benign |
Het |
| Lrfn2 |
G |
A |
17: 49,404,028 (GRCm39) |
G717D |
probably benign |
Het |
| Ogfrl1 |
T |
G |
1: 23,408,944 (GRCm39) |
K427N |
probably benign |
Het |
| Or51a5 |
T |
C |
7: 102,771,563 (GRCm39) |
T143A |
probably damaging |
Het |
| Rad17 |
A |
T |
13: 100,755,644 (GRCm39) |
I579N |
probably damaging |
Het |
| Rif1 |
T |
A |
2: 52,009,168 (GRCm39) |
Y2316N |
probably damaging |
Het |
| Ros1 |
T |
A |
10: 52,031,351 (GRCm39) |
D430V |
probably damaging |
Het |
| Rp9 |
A |
T |
9: 22,361,154 (GRCm39) |
H44Q |
probably damaging |
Het |
| Rtl1 |
T |
C |
12: 109,558,735 (GRCm39) |
T1035A |
possibly damaging |
Het |
| Slc2a5 |
A |
C |
4: 150,223,983 (GRCm39) |
D225A |
possibly damaging |
Het |
| Tlx3 |
A |
T |
11: 33,152,567 (GRCm39) |
V176E |
possibly damaging |
Het |
| Trpv3 |
G |
A |
11: 73,174,689 (GRCm39) |
G352D |
probably damaging |
Het |
| Ubr4 |
C |
A |
4: 139,156,850 (GRCm39) |
H2292N |
possibly damaging |
Het |
| Wee2 |
A |
G |
6: 40,421,189 (GRCm39) |
H93R |
probably benign |
Het |
| Xirp2 |
T |
G |
2: 67,341,994 (GRCm39) |
L1412V |
possibly damaging |
Het |
| Zfat |
T |
C |
15: 68,052,831 (GRCm39) |
H321R |
probably damaging |
Het |
| Zfp623 |
C |
A |
15: 75,819,837 (GRCm39) |
C264* |
probably null |
Het |
| Zfp687 |
G |
C |
3: 94,919,188 (GRCm39) |
P195A |
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 |
|
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 |
|
R7963:Lrp3
|
UTSW |
7 |
34,902,404 (GRCm39) |
nonsense |
probably null |
|
|
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'- AAGGGCCTCATCATCACTAGC -3'
(R):5'- TGCTACAGAACCTTCGCAC -3'
Sequencing Primer
(F):5'- CATCATCACTAGCCTCCAATATTG -3'
(R):5'- TGGAACAGGCTCTTCCACC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation