Incidental Mutation 'R5987:Lrp5'
| ID |
481776 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrp5
|
| Ensembl Gene |
ENSMUSG00000024913 |
| Gene Name |
low density lipoprotein receptor-related protein 5 |
| Synonyms |
LRP7, LR3 |
| MMRRC Submission |
044167-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.924)
|
| Stock # |
R5987 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
3634828-3736564 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 3678299 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 519
(G519R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025856
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025856]
[ENSMUST00000176867]
[ENSMUST00000177330]
|
| AlphaFold |
Q91VN0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025856
AA Change: G519R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025856
Gene: ENSMUSG00000024913
AA Change: G519R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
LY
|
54 |
96 |
1.26e0 |
SMART |
|
LY
|
99 |
141 |
2.11e-13 |
SMART |
|
LY
|
142 |
185 |
1.32e-14 |
SMART |
|
LY
|
186 |
228 |
1.6e-13 |
SMART |
|
LY
|
229 |
270 |
4e-5 |
SMART |
|
EGF
|
297 |
336 |
1.01e-1 |
SMART |
|
LY
|
364 |
406 |
5.15e-8 |
SMART |
|
LY
|
407 |
449 |
4.12e-16 |
SMART |
|
LY
|
450 |
493 |
7.68e-16 |
SMART |
|
LY
|
494 |
536 |
6.24e-16 |
SMART |
|
LY
|
537 |
577 |
3.73e-5 |
SMART |
|
EGF
|
603 |
640 |
2.48e-1 |
SMART |
|
LY
|
666 |
708 |
5.92e-8 |
SMART |
|
LY
|
709 |
751 |
5.65e-14 |
SMART |
|
LY
|
752 |
795 |
3.81e-11 |
SMART |
|
LY
|
796 |
837 |
3.54e-6 |
SMART |
|
LY
|
838 |
877 |
1.33e-1 |
SMART |
|
EGF
|
904 |
941 |
1.22e0 |
SMART |
|
LY
|
968 |
1009 |
4.39e-2 |
SMART |
|
LY
|
1015 |
1057 |
1.81e0 |
SMART |
|
LY
|
1058 |
1102 |
9.47e-7 |
SMART |
|
LY
|
1103 |
1145 |
6.91e-9 |
SMART |
|
LY
|
1146 |
1186 |
1.53e0 |
SMART |
|
EGF
|
1215 |
1253 |
2.85e-1 |
SMART |
|
LDLa
|
1257 |
1296 |
1.23e-13 |
SMART |
|
LDLa
|
1297 |
1333 |
3.26e-9 |
SMART |
|
LDLa
|
1334 |
1371 |
1.31e-13 |
SMART |
|
transmembrane domain
|
1384 |
1406 |
N/A |
INTRINSIC |
|
low complexity region
|
1494 |
1503 |
N/A |
INTRINSIC |
|
low complexity region
|
1571 |
1578 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176867
AA Change: G519R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135654
Gene: ENSMUSG00000024913
AA Change: G519R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
LY
|
54 |
96 |
1.26e0 |
SMART |
|
LY
|
99 |
141 |
2.11e-13 |
SMART |
|
LY
|
142 |
185 |
1.32e-14 |
SMART |
|
LY
|
186 |
228 |
1.6e-13 |
SMART |
|
LY
|
229 |
270 |
4e-5 |
SMART |
|
EGF
|
297 |
336 |
1.01e-1 |
SMART |
|
LY
|
364 |
406 |
5.15e-8 |
SMART |
|
LY
|
407 |
449 |
4.12e-16 |
SMART |
|
LY
|
450 |
493 |
7.68e-16 |
SMART |
|
LY
|
494 |
536 |
6.24e-16 |
SMART |
|
LY
|
537 |
577 |
3.73e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177330
|
| SMART Domains |
Protein: ENSMUSP00000134983
Gene: ENSMUSG00000024913
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
LY
|
54 |
96 |
1.26e0 |
SMART |
|
LY
|
99 |
141 |
2.11e-13 |
SMART |
|
LY
|
142 |
185 |
1.32e-14 |
SMART |
|
LY
|
186 |
228 |
1.6e-13 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 91.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane low-density lipoprotein receptor that binds and internalizes ligands in the process of receptor-mediated endocytosis. This protein also acts as a co-receptor with Frizzled protein family members for transducing signals by Wnt proteins and was originally cloned on the basis of its association with type 1 diabetes mellitus in humans. This protein plays a key role in skeletal homeostasis and many bone density related diseases are caused by mutations in this gene. Mutations in this gene also cause familial exudative vitreoretinopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
PHENOTYPE: Homozygous mutants show variable bone loss, decreased osteoblast proliferation, impaired glucose tolerance, increased plasma cholesterol on high-fat diet and persistent embryonic eye vascularization, depending on allelic combination and strain background. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 93 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
C |
1: 71,297,257 (GRCm39) |
L2411R |
probably damaging |
Het |
| Als2 |
A |
G |
1: 59,245,746 (GRCm39) |
W577R |
probably damaging |
Het |
| Aox1 |
C |
A |
1: 58,346,518 (GRCm39) |
R551S |
probably benign |
Het |
| Areg |
A |
T |
5: 91,294,577 (GRCm39) |
H245L |
possibly damaging |
Het |
| Arhgap35 |
T |
C |
7: 16,297,392 (GRCm39) |
T558A |
possibly damaging |
Het |
| Arhgef28 |
A |
T |
13: 98,073,368 (GRCm39) |
C1322* |
probably null |
Het |
| Arhgef38 |
T |
C |
3: 132,912,719 (GRCm39) |
R107G |
possibly damaging |
Het |
| Atf7ip |
T |
A |
6: 136,548,500 (GRCm39) |
F695L |
probably damaging |
Het |
| AW209491 |
C |
T |
13: 14,812,365 (GRCm39) |
A406V |
probably benign |
Het |
| Bche |
T |
G |
3: 73,556,011 (GRCm39) |
Q549P |
possibly damaging |
Het |
| Blnk |
A |
G |
19: 40,917,733 (GRCm39) |
F417L |
possibly damaging |
Het |
| Bloc1s1 |
T |
G |
10: 128,759,255 (GRCm39) |
K17T |
probably damaging |
Het |
| C330018D20Rik |
G |
T |
18: 57,090,968 (GRCm39) |
T65K |
probably damaging |
Het |
| Ccdc168 |
A |
T |
1: 44,096,417 (GRCm39) |
N1560K |
probably benign |
Het |
| Cers1 |
T |
A |
8: 70,774,228 (GRCm39) |
S162T |
possibly damaging |
Het |
| Cgn |
T |
C |
3: 94,686,832 (GRCm39) |
K157E |
probably benign |
Het |
| Cldn7 |
G |
A |
11: 69,858,494 (GRCm39) |
R196Q |
probably benign |
Het |
| Clrn2 |
C |
A |
5: 45,611,369 (GRCm39) |
Q73K |
probably benign |
Het |
| Cmss1 |
A |
G |
16: 57,122,608 (GRCm39) |
V262A |
probably benign |
Het |
| Cpb2 |
T |
A |
14: 75,498,128 (GRCm39) |
V97E |
probably damaging |
Het |
| Ctnnd2 |
G |
A |
15: 30,683,387 (GRCm39) |
V463I |
probably benign |
Het |
| Cyp7a1 |
A |
T |
4: 6,268,476 (GRCm39) |
S416R |
probably benign |
Het |
| Dip2b |
C |
T |
15: 100,087,960 (GRCm39) |
R965C |
probably damaging |
Het |
| Dkk3 |
T |
C |
7: 111,749,865 (GRCm39) |
T102A |
probably benign |
Het |
| Dmap1 |
C |
A |
4: 117,538,039 (GRCm39) |
|
probably null |
Het |
| Dnah12 |
C |
A |
14: 26,608,828 (GRCm39) |
D3872E |
possibly damaging |
Het |
| Dnah7b |
A |
G |
1: 46,158,558 (GRCm39) |
|
probably null |
Het |
| Dnai1 |
C |
T |
4: 41,632,391 (GRCm39) |
T575I |
probably benign |
Het |
| Dsg1a |
T |
A |
18: 20,464,599 (GRCm39) |
Y365N |
probably damaging |
Het |
| Dusp11 |
T |
A |
6: 85,936,215 (GRCm39) |
K18* |
probably null |
Het |
| E2f2 |
A |
T |
4: 135,900,245 (GRCm39) |
T52S |
probably benign |
Het |
| Elavl4 |
A |
G |
4: 110,147,841 (GRCm39) |
L13S |
probably benign |
Het |
| Epor |
T |
C |
9: 21,873,572 (GRCm39) |
D59G |
possibly damaging |
Het |
| Eral1 |
A |
G |
11: 77,971,059 (GRCm39) |
C43R |
possibly damaging |
Het |
| Fam135b |
A |
G |
15: 71,362,697 (GRCm39) |
V228A |
probably benign |
Het |
| Gba1 |
T |
C |
3: 89,113,129 (GRCm39) |
S187P |
probably damaging |
Het |
| Gcc2 |
G |
T |
10: 58,091,669 (GRCm39) |
|
probably benign |
Het |
| Gdap2 |
C |
A |
3: 100,109,572 (GRCm39) |
|
probably benign |
Het |
| Gm10271 |
A |
T |
10: 116,808,497 (GRCm39) |
F6L |
probably damaging |
Het |
| Gm10801 |
C |
CGTG |
2: 98,494,152 (GRCm39) |
|
probably null |
Het |
| Gpr160 |
T |
C |
3: 30,950,612 (GRCm39) |
L228P |
probably benign |
Het |
| Gsdmc2 |
A |
C |
15: 63,702,715 (GRCm39) |
V184G |
probably benign |
Het |
| Gtf2e2 |
A |
T |
8: 34,266,080 (GRCm39) |
K252M |
probably damaging |
Het |
| Gtf2e2 |
G |
T |
8: 34,266,081 (GRCm39) |
K252N |
probably benign |
Het |
| Gys1 |
T |
C |
7: 45,087,529 (GRCm39) |
Y102H |
probably benign |
Het |
| H4c2 |
A |
G |
13: 23,941,209 (GRCm39) |
D69G |
probably damaging |
Het |
| Ifit3b |
A |
C |
19: 34,589,598 (GRCm39) |
D258A |
probably damaging |
Het |
| Itpr3 |
T |
A |
17: 27,323,575 (GRCm39) |
M1200K |
probably damaging |
Het |
| Kcng4 |
A |
T |
8: 120,353,098 (GRCm39) |
F271I |
probably damaging |
Het |
| Klhdc2 |
C |
T |
12: 69,350,387 (GRCm39) |
S144L |
possibly damaging |
Het |
| Lhcgr |
A |
G |
17: 89,063,006 (GRCm39) |
F222S |
probably damaging |
Het |
| Magel2 |
T |
C |
7: 62,028,515 (GRCm39) |
V473A |
probably benign |
Het |
| Map1a |
T |
C |
2: 121,134,776 (GRCm39) |
V1864A |
possibly damaging |
Het |
| Mast4 |
T |
A |
13: 102,895,242 (GRCm39) |
Q760H |
probably damaging |
Het |
| Mertk |
A |
G |
2: 128,613,294 (GRCm39) |
N437D |
probably benign |
Het |
| Mettl18 |
G |
A |
1: 163,824,344 (GRCm39) |
V222I |
probably benign |
Het |
| Mical2 |
C |
T |
7: 111,934,155 (GRCm39) |
T782M |
probably benign |
Het |
| Mocos |
T |
A |
18: 24,819,750 (GRCm39) |
V664E |
probably damaging |
Het |
| Neb |
G |
T |
2: 52,185,306 (GRCm39) |
N975K |
probably benign |
Het |
| Nectin3 |
A |
T |
16: 46,284,508 (GRCm39) |
S59T |
probably benign |
Het |
| Nelfb |
A |
T |
2: 25,093,900 (GRCm39) |
M11K |
probably damaging |
Het |
| Nrp1 |
A |
G |
8: 129,202,650 (GRCm39) |
N545S |
probably damaging |
Het |
| Or10ak11 |
T |
C |
4: 118,687,478 (GRCm39) |
D53G |
probably damaging |
Het |
| Or2g1 |
T |
A |
17: 38,107,248 (GRCm39) |
N304K |
probably benign |
Het |
| Or51b4 |
T |
A |
7: 103,530,907 (GRCm39) |
D181V |
probably damaging |
Het |
| Or5b117 |
A |
T |
19: 13,431,324 (GRCm39) |
S186T |
possibly damaging |
Het |
| Or5p67 |
T |
A |
7: 107,922,254 (GRCm39) |
T210S |
probably benign |
Het |
| Or6c70 |
A |
T |
10: 129,710,390 (GRCm39) |
F79I |
probably damaging |
Het |
| Or8g53 |
T |
C |
9: 39,683,836 (GRCm39) |
T87A |
probably benign |
Het |
| P3h1 |
A |
G |
4: 119,103,862 (GRCm39) |
H587R |
probably damaging |
Het |
| Paqr4 |
A |
G |
17: 23,958,832 (GRCm39) |
|
probably null |
Het |
| Pde12 |
A |
G |
14: 26,390,253 (GRCm39) |
V152A |
probably benign |
Het |
| Ppip5k1 |
C |
A |
2: 121,180,972 (GRCm39) |
E45* |
probably null |
Het |
| Ptch2 |
C |
T |
4: 116,967,254 (GRCm39) |
A677V |
probably benign |
Het |
| Rgs12 |
A |
G |
5: 35,177,689 (GRCm39) |
N93S |
probably damaging |
Het |
| Rif1 |
C |
G |
2: 51,985,856 (GRCm39) |
L614V |
probably damaging |
Het |
| Rnf32 |
T |
C |
5: 29,408,145 (GRCm39) |
S125P |
probably damaging |
Het |
| Robo4 |
A |
G |
9: 37,322,696 (GRCm39) |
I850V |
probably damaging |
Het |
| Scap |
T |
A |
9: 110,210,219 (GRCm39) |
I876N |
probably damaging |
Het |
| Sin3a |
A |
G |
9: 57,034,484 (GRCm39) |
D1219G |
possibly damaging |
Het |
| Skint5 |
T |
C |
4: 113,743,005 (GRCm39) |
E354G |
unknown |
Het |
| Spart |
A |
G |
3: 55,033,962 (GRCm39) |
D396G |
probably benign |
Het |
| Spindoc |
G |
A |
19: 7,351,024 (GRCm39) |
S311L |
probably benign |
Het |
| Spta1 |
G |
T |
1: 174,050,894 (GRCm39) |
R1791L |
probably damaging |
Het |
| Tbck |
T |
C |
3: 132,507,278 (GRCm39) |
I750T |
possibly damaging |
Het |
| Tmem191 |
T |
C |
16: 17,094,334 (GRCm39) |
|
probably null |
Het |
| Trgv1 |
A |
T |
13: 19,524,474 (GRCm39) |
Y66F |
probably benign |
Het |
| Vmn2r125 |
A |
G |
4: 156,702,292 (GRCm39) |
Y26C |
probably damaging |
Het |
| Zbtb17 |
T |
C |
4: 141,192,128 (GRCm39) |
C358R |
possibly damaging |
Het |
| Zfp180 |
G |
A |
7: 23,804,859 (GRCm39) |
G426E |
probably damaging |
Het |
| Zfp445 |
A |
G |
9: 122,682,951 (GRCm39) |
V330A |
probably benign |
Het |
| Zfp595 |
A |
G |
13: 67,465,688 (GRCm39) |
C192R |
probably damaging |
Het |
| Zkscan4 |
A |
G |
13: 21,668,623 (GRCm39) |
H387R |
probably damaging |
Het |
|
| Other mutations in Lrp5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00834:Lrp5
|
APN |
19 |
3,699,404 (GRCm39) |
missense |
probably benign |
|
|
IGL00902:Lrp5
|
APN |
19 |
3,650,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02032:Lrp5
|
APN |
19 |
3,665,886 (GRCm39) |
splice site |
probably benign |
|
|
IGL02331:Lrp5
|
APN |
19 |
3,641,816 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL02401:Lrp5
|
APN |
19 |
3,643,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02471:Lrp5
|
APN |
19 |
3,652,408 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL02572:Lrp5
|
APN |
19 |
3,664,283 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02637:Lrp5
|
APN |
19 |
3,680,269 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02696:Lrp5
|
APN |
19 |
3,652,253 (GRCm39) |
missense |
probably benign |
|
|
IGL02742:Lrp5
|
APN |
19 |
3,654,022 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02804:Lrp5
|
APN |
19 |
3,650,777 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL03089:Lrp5
|
APN |
19 |
3,670,314 (GRCm39) |
splice site |
probably null |
|
|
IGL03243:Lrp5
|
APN |
19 |
3,680,159 (GRCm39) |
missense |
probably benign |
0.12 |
|
Contrarian
|
UTSW |
19 |
3,709,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Contrarian2
|
UTSW |
19 |
3,702,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
lucent
|
UTSW |
19 |
3,736,353 (GRCm39) |
critical splice donor site |
probably null |
|
|
Microtome
|
UTSW |
19 |
3,672,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
r18
|
UTSW |
19 |
0 () |
small insertion |
|
|
|
Spicule
|
UTSW |
19 |
3,662,197 (GRCm39) |
critical splice donor site |
probably null |
|
|
Stirrup
|
UTSW |
19 |
3,650,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4494001:Lrp5
|
UTSW |
19 |
3,660,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0219:Lrp5
|
UTSW |
19 |
3,647,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0526:Lrp5
|
UTSW |
19 |
3,678,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0597:Lrp5
|
UTSW |
19 |
3,650,777 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0883:Lrp5
|
UTSW |
19 |
3,655,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1086:Lrp5
|
UTSW |
19 |
3,699,476 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1417:Lrp5
|
UTSW |
19 |
3,636,425 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1468:Lrp5
|
UTSW |
19 |
3,670,191 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1468:Lrp5
|
UTSW |
19 |
3,670,191 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1533:Lrp5
|
UTSW |
19 |
3,664,234 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1538:Lrp5
|
UTSW |
19 |
3,697,585 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1856:Lrp5
|
UTSW |
19 |
3,647,346 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1930:Lrp5
|
UTSW |
19 |
3,660,131 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1931:Lrp5
|
UTSW |
19 |
3,660,131 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1932:Lrp5
|
UTSW |
19 |
3,660,131 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1951:Lrp5
|
UTSW |
19 |
3,670,298 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2016:Lrp5
|
UTSW |
19 |
3,660,056 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2131:Lrp5
|
UTSW |
19 |
3,672,708 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2153:Lrp5
|
UTSW |
19 |
3,664,339 (GRCm39) |
missense |
probably benign |
0.22 |
|
R2403:Lrp5
|
UTSW |
19 |
3,647,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3158:Lrp5
|
UTSW |
19 |
3,665,849 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3771:Lrp5
|
UTSW |
19 |
3,662,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3772:Lrp5
|
UTSW |
19 |
3,662,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3773:Lrp5
|
UTSW |
19 |
3,662,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3825:Lrp5
|
UTSW |
19 |
3,655,290 (GRCm39) |
nonsense |
probably null |
|
|
R3887:Lrp5
|
UTSW |
19 |
3,662,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3888:Lrp5
|
UTSW |
19 |
3,662,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3893:Lrp5
|
UTSW |
19 |
3,662,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3917:Lrp5
|
UTSW |
19 |
3,662,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4279:Lrp5
|
UTSW |
19 |
3,641,778 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4714:Lrp5
|
UTSW |
19 |
3,709,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4825:Lrp5
|
UTSW |
19 |
3,664,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5102:Lrp5
|
UTSW |
19 |
3,709,304 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5138:Lrp5
|
UTSW |
19 |
3,678,319 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5497:Lrp5
|
UTSW |
19 |
3,652,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5632:Lrp5
|
UTSW |
19 |
3,672,512 (GRCm39) |
missense |
probably benign |
|
|
R5887:Lrp5
|
UTSW |
19 |
3,654,094 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5950:Lrp5
|
UTSW |
19 |
3,652,333 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6080:Lrp5
|
UTSW |
19 |
3,678,316 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6181:Lrp5
|
UTSW |
19 |
3,678,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6236:Lrp5
|
UTSW |
19 |
3,680,483 (GRCm39) |
splice site |
probably null |
|
|
R6332:Lrp5
|
UTSW |
19 |
3,709,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6511:Lrp5
|
UTSW |
19 |
3,702,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6641:Lrp5
|
UTSW |
19 |
3,702,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6791:Lrp5
|
UTSW |
19 |
3,650,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6865:Lrp5
|
UTSW |
19 |
3,670,013 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6906:Lrp5
|
UTSW |
19 |
3,672,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6922:Lrp5
|
UTSW |
19 |
3,655,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7091:Lrp5
|
UTSW |
19 |
3,680,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7303:Lrp5
|
UTSW |
19 |
3,641,774 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7368:Lrp5
|
UTSW |
19 |
3,670,085 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7381:Lrp5
|
UTSW |
19 |
3,643,588 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7385:Lrp5
|
UTSW |
19 |
3,662,197 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7392:Lrp5
|
UTSW |
19 |
3,660,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7448:Lrp5
|
UTSW |
19 |
3,699,439 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7585:Lrp5
|
UTSW |
19 |
3,654,094 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7662:Lrp5
|
UTSW |
19 |
3,736,353 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7984:Lrp5
|
UTSW |
19 |
3,662,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8056:Lrp5
|
UTSW |
19 |
3,647,337 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8391:Lrp5
|
UTSW |
19 |
3,654,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8881:Lrp5
|
UTSW |
19 |
3,641,015 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8885:Lrp5
|
UTSW |
19 |
3,702,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9051:Lrp5
|
UTSW |
19 |
3,680,156 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9263:Lrp5
|
UTSW |
19 |
3,654,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9376:Lrp5
|
UTSW |
19 |
3,670,286 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9400:Lrp5
|
UTSW |
19 |
3,635,272 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9536:Lrp5
|
UTSW |
19 |
3,672,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9600:Lrp5
|
UTSW |
19 |
3,641,712 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Lrp5
|
UTSW |
19 |
3,678,345 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCACAGCCACTCAGTGATAC -3'
(R):5'- GGGCAGAACAGACACTATCATG -3'
Sequencing Primer
(F):5'- GTGATACCCACAGCAAACATGGG -3'
(R):5'- AGACACTATCATGACCGTTTGC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation