Incidental Mutation 'R1900:Ltbp2'
| ID |
214225 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ltbp2
|
| Ensembl Gene |
ENSMUSG00000002020 |
| Gene Name |
latent transforming growth factor beta binding protein 2 |
| Synonyms |
|
| MMRRC Submission |
039920-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.739)
|
| Stock # |
R1900 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
84829986-84923306 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 84877432 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 378
(S378T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127693
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002073]
[ENSMUST00000110254]
[ENSMUST00000163189]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000002073
AA Change: S378T
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000002073
Gene: ENSMUSG00000002020
AA Change: S378T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
99 |
108 |
N/A |
INTRINSIC |
|
EGF
|
184 |
213 |
6.55e-1 |
SMART |
|
low complexity region
|
255 |
275 |
N/A |
INTRINSIC |
|
EGF
|
384 |
413 |
8.19e-2 |
SMART |
|
low complexity region
|
515 |
526 |
N/A |
INTRINSIC |
|
Pfam:TB
|
546 |
582 |
3.8e-9 |
PFAM |
|
EGF_CA
|
606 |
646 |
8.05e-10 |
SMART |
|
Pfam:TB
|
666 |
707 |
3.4e-17 |
PFAM |
|
EGF_CA
|
832 |
874 |
7.18e-7 |
SMART |
|
EGF_CA
|
875 |
917 |
1.75e-10 |
SMART |
|
EGF_CA
|
918 |
957 |
1.53e-10 |
SMART |
|
EGF_CA
|
958 |
997 |
3.51e-10 |
SMART |
|
EGF_CA
|
998 |
1038 |
8.3e-12 |
SMART |
|
EGF_CA
|
1039 |
1080 |
4.56e-9 |
SMART |
|
EGF_CA
|
1081 |
1122 |
4.56e-9 |
SMART |
|
EGF_CA
|
1123 |
1163 |
8.76e-11 |
SMART |
|
EGF_CA
|
1164 |
1205 |
4.38e-11 |
SMART |
|
EGF_CA
|
1206 |
1246 |
1.75e-10 |
SMART |
|
EGF_CA
|
1247 |
1290 |
2.24e-8 |
SMART |
|
EGF_CA
|
1291 |
1332 |
6.01e-9 |
SMART |
|
EGF
|
1336 |
1375 |
1.95e1 |
SMART |
|
Pfam:TB
|
1410 |
1450 |
1.4e-13 |
PFAM |
|
EGF_CA
|
1473 |
1515 |
2.31e-10 |
SMART |
|
EGF_CA
|
1516 |
1555 |
7.93e-9 |
SMART |
|
Pfam:TB
|
1582 |
1623 |
1e-13 |
PFAM |
|
low complexity region
|
1691 |
1704 |
N/A |
INTRINSIC |
|
EGF
|
1724 |
1761 |
4e-5 |
SMART |
|
EGF_CA
|
1762 |
1806 |
1.91e-11 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110254
AA Change: S398T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105883
Gene: ENSMUSG00000002020
AA Change: S398T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
119 |
128 |
N/A |
INTRINSIC |
|
EGF
|
204 |
233 |
6.55e-1 |
SMART |
|
low complexity region
|
275 |
295 |
N/A |
INTRINSIC |
|
EGF
|
404 |
433 |
8.19e-2 |
SMART |
|
low complexity region
|
535 |
546 |
N/A |
INTRINSIC |
|
Pfam:TB
|
565 |
602 |
4e-8 |
PFAM |
|
EGF_CA
|
626 |
666 |
8.05e-10 |
SMART |
|
Pfam:TB
|
685 |
727 |
3.7e-16 |
PFAM |
|
EGF_CA
|
852 |
894 |
7.18e-7 |
SMART |
|
EGF_CA
|
895 |
934 |
1.53e-10 |
SMART |
|
EGF_CA
|
935 |
974 |
3.51e-10 |
SMART |
|
EGF_CA
|
975 |
1015 |
8.3e-12 |
SMART |
|
EGF_CA
|
1016 |
1057 |
4.56e-9 |
SMART |
|
EGF_CA
|
1058 |
1099 |
4.56e-9 |
SMART |
|
EGF_CA
|
1100 |
1140 |
8.76e-11 |
SMART |
|
EGF_CA
|
1141 |
1182 |
4.38e-11 |
SMART |
|
EGF_CA
|
1183 |
1223 |
1.75e-10 |
SMART |
|
EGF_CA
|
1224 |
1267 |
2.24e-8 |
SMART |
|
EGF_CA
|
1268 |
1309 |
6.01e-9 |
SMART |
|
EGF
|
1313 |
1352 |
1.95e1 |
SMART |
|
Pfam:TB
|
1387 |
1427 |
1.4e-11 |
PFAM |
|
EGF_CA
|
1450 |
1492 |
2.31e-10 |
SMART |
|
EGF_CA
|
1493 |
1532 |
7.93e-9 |
SMART |
|
Pfam:TB
|
1558 |
1600 |
4.6e-13 |
PFAM |
|
low complexity region
|
1668 |
1681 |
N/A |
INTRINSIC |
|
EGF
|
1701 |
1738 |
4e-5 |
SMART |
|
EGF_CA
|
1739 |
1783 |
1.91e-11 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163189
AA Change: S378T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000127693
Gene: ENSMUSG00000002020
AA Change: S378T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
99 |
108 |
N/A |
INTRINSIC |
|
EGF
|
184 |
213 |
6.55e-1 |
SMART |
|
low complexity region
|
255 |
275 |
N/A |
INTRINSIC |
|
EGF
|
384 |
413 |
8.19e-2 |
SMART |
|
low complexity region
|
515 |
526 |
N/A |
INTRINSIC |
|
Pfam:TB
|
545 |
582 |
4e-8 |
PFAM |
|
EGF_CA
|
606 |
646 |
8.05e-10 |
SMART |
|
Pfam:TB
|
665 |
707 |
3.8e-16 |
PFAM |
|
EGF_CA
|
832 |
874 |
7.18e-7 |
SMART |
|
EGF_CA
|
875 |
914 |
1.53e-10 |
SMART |
|
EGF_CA
|
915 |
954 |
3.51e-10 |
SMART |
|
EGF_CA
|
955 |
995 |
8.3e-12 |
SMART |
|
EGF_CA
|
996 |
1037 |
4.56e-9 |
SMART |
|
EGF_CA
|
1038 |
1079 |
4.56e-9 |
SMART |
|
EGF_CA
|
1080 |
1120 |
8.76e-11 |
SMART |
|
EGF_CA
|
1121 |
1162 |
4.38e-11 |
SMART |
|
EGF_CA
|
1163 |
1203 |
1.75e-10 |
SMART |
|
EGF_CA
|
1204 |
1247 |
2.24e-8 |
SMART |
|
EGF_CA
|
1248 |
1289 |
6.01e-9 |
SMART |
|
EGF
|
1293 |
1332 |
1.95e1 |
SMART |
|
Pfam:TB
|
1367 |
1407 |
1.5e-11 |
PFAM |
|
EGF_CA
|
1430 |
1472 |
2.31e-10 |
SMART |
|
EGF_CA
|
1473 |
1512 |
7.93e-9 |
SMART |
|
Pfam:TB
|
1538 |
1580 |
4.7e-13 |
PFAM |
|
low complexity region
|
1648 |
1661 |
N/A |
INTRINSIC |
|
EGF
|
1681 |
1718 |
4e-5 |
SMART |
|
EGF_CA
|
1719 |
1763 |
1.91e-11 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168699
|
| Meta Mutation Damage Score |
0.0944 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.5%
- 20x: 93.0%
|
| Validation Efficiency |
96% (100/104) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of latent transforming growth factor (TGF)-beta binding proteins (LTBP), which are extracellular matrix proteins with multi-domain structure. This protein is the largest member of the LTBP family possessing unique regions and with most similarity to the fibrillins. It has thus been suggested that it may have multiple functions: as a member of the TGF-beta latent complex, as a structural component of microfibrils, and a role in cell adhesion. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit early embryonic lethality prior to E6.5. Mice homozygous for a different null allele are viable, fertile, and developmentally normal but develop lens dislocations due to ciliary zonule fragmentation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 104 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6330409D20Rik |
T |
C |
2: 32,630,559 (GRCm39) |
|
probably benign |
Het |
| Ago4 |
T |
C |
4: 126,410,729 (GRCm39) |
I221V |
probably benign |
Het |
| Ankfy1 |
C |
T |
11: 72,645,233 (GRCm39) |
Q771* |
probably null |
Het |
| Ankrd50 |
T |
C |
3: 38,509,536 (GRCm39) |
T944A |
probably damaging |
Het |
| Armh4 |
T |
C |
14: 50,008,040 (GRCm39) |
T478A |
probably damaging |
Het |
| AU040320 |
A |
C |
4: 126,747,073 (GRCm39) |
|
probably null |
Het |
| Axdnd1 |
A |
G |
1: 156,208,344 (GRCm39) |
|
probably null |
Het |
| Cdadc1 |
A |
T |
14: 59,823,981 (GRCm39) |
D170E |
probably damaging |
Het |
| Cep164 |
C |
A |
9: 45,721,123 (GRCm39) |
R93L |
probably damaging |
Het |
| Cep250 |
T |
C |
2: 155,827,294 (GRCm39) |
|
probably null |
Het |
| Cfdp1 |
G |
A |
8: 112,495,361 (GRCm39) |
R286* |
probably null |
Het |
| Chrdl2 |
A |
G |
7: 99,682,871 (GRCm39) |
I377V |
possibly damaging |
Het |
| Cntrob |
A |
T |
11: 69,198,880 (GRCm39) |
S623T |
probably benign |
Het |
| Col6a5 |
C |
T |
9: 105,808,412 (GRCm39) |
G879S |
unknown |
Het |
| Cyp2c38 |
T |
A |
19: 39,426,756 (GRCm39) |
I182F |
probably benign |
Het |
| Dennd4a |
T |
C |
9: 64,804,618 (GRCm39) |
V1319A |
probably damaging |
Het |
| Dysf |
T |
G |
6: 84,016,549 (GRCm39) |
V70G |
probably damaging |
Het |
| Edn3 |
A |
G |
2: 174,603,398 (GRCm39) |
T49A |
possibly damaging |
Het |
| Elac1 |
C |
G |
18: 73,872,316 (GRCm39) |
L226F |
probably damaging |
Het |
| Eps8l3 |
A |
G |
3: 107,798,268 (GRCm39) |
D445G |
probably benign |
Het |
| Fgf11 |
G |
T |
11: 69,692,279 (GRCm39) |
T58K |
probably benign |
Het |
| Fstl5 |
T |
A |
3: 76,615,467 (GRCm39) |
W843R |
probably damaging |
Het |
| Fyb2 |
A |
G |
4: 104,802,652 (GRCm39) |
R185G |
probably benign |
Het |
| Gal3st2c |
G |
A |
1: 93,936,766 (GRCm39) |
R237H |
probably damaging |
Het |
| Galnt15 |
G |
T |
14: 31,771,822 (GRCm39) |
R289L |
probably damaging |
Het |
| Garin4 |
T |
A |
1: 190,896,631 (GRCm39) |
K4M |
possibly damaging |
Het |
| Gdf5 |
T |
A |
2: 155,784,001 (GRCm39) |
D317V |
probably damaging |
Het |
| Gm7808 |
A |
G |
9: 19,839,410 (GRCm39) |
|
probably benign |
Het |
| Hcn3 |
T |
C |
3: 89,055,570 (GRCm39) |
E559G |
probably benign |
Het |
| Hdlbp |
A |
T |
1: 93,349,959 (GRCm39) |
|
probably benign |
Het |
| Hhip |
T |
C |
8: 80,701,675 (GRCm39) |
T620A |
probably benign |
Het |
| Hs3st3a1 |
T |
C |
11: 64,411,268 (GRCm39) |
S269P |
probably damaging |
Het |
| Il17ra |
A |
T |
6: 120,454,355 (GRCm39) |
|
probably null |
Het |
| Kif2a |
T |
C |
13: 107,113,503 (GRCm39) |
N417S |
possibly damaging |
Het |
| Klhl41 |
T |
A |
2: 69,504,963 (GRCm39) |
|
probably benign |
Het |
| L3mbtl4 |
G |
T |
17: 68,766,800 (GRCm39) |
C169F |
probably damaging |
Het |
| Lap3 |
T |
C |
5: 45,669,252 (GRCm39) |
F467S |
probably damaging |
Het |
| Lpar6 |
A |
T |
14: 73,476,579 (GRCm39) |
Y180F |
probably benign |
Het |
| Lrig3 |
T |
C |
10: 125,838,262 (GRCm39) |
|
probably benign |
Het |
| Ltf |
T |
C |
9: 110,851,913 (GRCm39) |
F117L |
possibly damaging |
Het |
| Med16 |
T |
C |
10: 79,734,765 (GRCm39) |
E533G |
probably damaging |
Het |
| Meltf |
T |
C |
16: 31,700,787 (GRCm39) |
|
probably null |
Het |
| Mphosph10 |
C |
T |
7: 64,030,776 (GRCm39) |
E488K |
possibly damaging |
Het |
| Mroh1 |
A |
G |
15: 76,317,585 (GRCm39) |
T812A |
probably benign |
Het |
| Mto1 |
T |
C |
9: 78,368,799 (GRCm39) |
|
probably benign |
Het |
| Ndst1 |
A |
T |
18: 60,845,793 (GRCm39) |
|
probably null |
Het |
| Ndst4 |
T |
A |
3: 125,491,544 (GRCm39) |
|
probably null |
Het |
| Nhlh1 |
A |
T |
1: 171,881,608 (GRCm39) |
I86N |
probably damaging |
Het |
| Nme9 |
A |
C |
9: 99,341,827 (GRCm39) |
D59A |
probably damaging |
Het |
| Nox4 |
A |
T |
7: 87,010,004 (GRCm39) |
R402* |
probably null |
Het |
| Npr1 |
T |
C |
3: 90,369,495 (GRCm39) |
D410G |
probably damaging |
Het |
| Nrip1 |
T |
A |
16: 76,088,927 (GRCm39) |
T877S |
probably benign |
Het |
| Nsd2 |
A |
G |
5: 34,003,513 (GRCm39) |
N221S |
probably benign |
Het |
| Ophn1 |
A |
T |
X: 97,769,665 (GRCm39) |
Y181* |
probably null |
Het |
| Or13a28 |
A |
T |
7: 140,218,505 (GRCm39) |
D297V |
probably damaging |
Het |
| Or1e17 |
C |
A |
11: 73,831,486 (GRCm39) |
P138Q |
possibly damaging |
Het |
| Or4c123 |
T |
C |
2: 89,127,014 (GRCm39) |
N200S |
probably damaging |
Het |
| Or51ac3 |
A |
T |
7: 103,213,814 (GRCm39) |
L224* |
probably null |
Het |
| Or51f5 |
A |
T |
7: 102,424,538 (GRCm39) |
H269L |
probably benign |
Het |
| Or5b109 |
T |
A |
19: 13,212,277 (GRCm39) |
I221K |
possibly damaging |
Het |
| Or8c10 |
A |
T |
9: 38,279,360 (GRCm39) |
I173L |
probably benign |
Het |
| Parp1 |
A |
G |
1: 180,424,904 (GRCm39) |
K819R |
probably damaging |
Het |
| Parp9 |
T |
C |
16: 35,792,591 (GRCm39) |
S829P |
probably benign |
Het |
| Pde6c |
T |
A |
19: 38,150,388 (GRCm39) |
F511Y |
probably damaging |
Het |
| Per3 |
G |
T |
4: 151,125,883 (GRCm39) |
H145Q |
probably damaging |
Het |
| Pglyrp1 |
C |
T |
7: 18,624,151 (GRCm39) |
R145W |
probably damaging |
Het |
| Piezo1 |
T |
C |
8: 123,209,384 (GRCm39) |
|
probably benign |
Het |
| Plb1 |
T |
C |
5: 32,444,191 (GRCm39) |
I312T |
probably benign |
Het |
| Plin3 |
T |
A |
17: 56,586,824 (GRCm39) |
T408S |
possibly damaging |
Het |
| Polr2a |
A |
T |
11: 69,634,772 (GRCm39) |
I636N |
probably damaging |
Het |
| Pramel51 |
A |
C |
12: 88,144,030 (GRCm39) |
L261R |
probably benign |
Het |
| Prb1b |
A |
T |
6: 132,291,661 (GRCm39) |
L11Q |
unknown |
Het |
| Prex2 |
G |
T |
1: 11,232,590 (GRCm39) |
E886* |
probably null |
Het |
| Proca1 |
A |
T |
11: 78,095,847 (GRCm39) |
I73F |
probably damaging |
Het |
| Ptpn6 |
A |
G |
6: 124,705,896 (GRCm39) |
S83P |
probably benign |
Het |
| Rtp1 |
G |
T |
16: 23,248,049 (GRCm39) |
V41L |
probably benign |
Het |
| Scn4a |
A |
G |
11: 106,218,359 (GRCm39) |
I1035T |
probably damaging |
Het |
| Sell |
A |
T |
1: 163,892,907 (GRCm39) |
Y41F |
probably damaging |
Het |
| Serping1 |
C |
T |
2: 84,601,793 (GRCm39) |
V226M |
probably damaging |
Het |
| Sf3b1 |
A |
T |
1: 55,037,347 (GRCm39) |
D856E |
possibly damaging |
Het |
| Sfmbt1 |
T |
A |
14: 30,524,524 (GRCm39) |
Y503N |
probably damaging |
Het |
| Slc16a1 |
T |
A |
3: 104,560,880 (GRCm39) |
V395D |
probably damaging |
Het |
| Slc22a7 |
A |
T |
17: 46,749,157 (GRCm39) |
D53E |
probably benign |
Het |
| Slc35b3 |
A |
G |
13: 39,144,587 (GRCm39) |
|
probably null |
Het |
| Slc6a1 |
T |
C |
6: 114,288,815 (GRCm39) |
M274T |
possibly damaging |
Het |
| Slco1a5 |
A |
G |
6: 142,187,789 (GRCm39) |
S517P |
probably benign |
Het |
| Smo |
A |
G |
6: 29,736,055 (GRCm39) |
R16G |
unknown |
Het |
| Srebf1 |
A |
G |
11: 60,094,312 (GRCm39) |
L601P |
probably damaging |
Het |
| Sspo |
A |
G |
6: 48,436,284 (GRCm39) |
I1086M |
probably benign |
Het |
| Tas2r106 |
A |
T |
6: 131,655,373 (GRCm39) |
N159K |
probably damaging |
Het |
| Thsd1 |
G |
A |
8: 22,742,334 (GRCm39) |
|
probably benign |
Het |
| Tmeff1 |
T |
C |
4: 48,658,938 (GRCm39) |
|
probably benign |
Het |
| Tmem140 |
G |
A |
6: 34,849,838 (GRCm39) |
C118Y |
possibly damaging |
Het |
| Tmem168 |
A |
G |
6: 13,583,070 (GRCm39) |
C220R |
probably benign |
Het |
| Tox2 |
A |
T |
2: 163,118,087 (GRCm39) |
N129Y |
probably damaging |
Het |
| Trappc12 |
C |
T |
12: 28,796,984 (GRCm39) |
E183K |
probably damaging |
Het |
| Unc50 |
A |
G |
1: 37,477,880 (GRCm39) |
Y254C |
probably damaging |
Het |
| Unk |
T |
G |
11: 115,949,907 (GRCm39) |
D691E |
probably benign |
Het |
| Uox |
T |
A |
3: 146,316,134 (GRCm39) |
V23D |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,853,176 (GRCm39) |
C2313R |
probably benign |
Het |
| Zfp804b |
T |
A |
5: 6,819,283 (GRCm39) |
H1260L |
probably damaging |
Het |
| Zfyve26 |
A |
G |
12: 79,311,125 (GRCm39) |
L147P |
probably damaging |
Het |
| Zmynd10 |
A |
T |
9: 107,427,236 (GRCm39) |
Q288L |
probably benign |
Het |
| Zzef1 |
T |
A |
11: 72,739,540 (GRCm39) |
D662E |
probably damaging |
Het |
|
| Other mutations in Ltbp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00471:Ltbp2
|
APN |
12 |
84,837,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00938:Ltbp2
|
APN |
12 |
84,878,573 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01397:Ltbp2
|
APN |
12 |
84,837,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01570:Ltbp2
|
APN |
12 |
84,840,807 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01631:Ltbp2
|
APN |
12 |
84,855,920 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01662:Ltbp2
|
APN |
12 |
84,856,020 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01728:Ltbp2
|
APN |
12 |
84,837,783 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01839:Ltbp2
|
APN |
12 |
84,840,432 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL01946:Ltbp2
|
APN |
12 |
84,877,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01977:Ltbp2
|
APN |
12 |
84,876,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02220:Ltbp2
|
APN |
12 |
84,876,083 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02340:Ltbp2
|
APN |
12 |
84,839,729 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02430:Ltbp2
|
APN |
12 |
84,846,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02492:Ltbp2
|
APN |
12 |
84,856,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02517:Ltbp2
|
APN |
12 |
84,832,091 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL02794:Ltbp2
|
APN |
12 |
84,838,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
deft
|
UTSW |
12 |
84,900,686 (GRCm39) |
missense |
probably damaging |
0.98 |
|
masterful
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
practiced
|
UTSW |
12 |
84,856,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0045:Ltbp2
|
UTSW |
12 |
84,860,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0045:Ltbp2
|
UTSW |
12 |
84,856,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0091:Ltbp2
|
UTSW |
12 |
84,840,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0094:Ltbp2
|
UTSW |
12 |
84,846,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0166:Ltbp2
|
UTSW |
12 |
84,833,132 (GRCm39) |
missense |
probably benign |
0.28 |
|
R0265:Ltbp2
|
UTSW |
12 |
84,832,743 (GRCm39) |
splice site |
probably null |
|
|
R0394:Ltbp2
|
UTSW |
12 |
84,853,198 (GRCm39) |
splice site |
probably benign |
|
|
R0535:Ltbp2
|
UTSW |
12 |
84,837,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0535:Ltbp2
|
UTSW |
12 |
84,831,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1465:Ltbp2
|
UTSW |
12 |
84,860,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1465:Ltbp2
|
UTSW |
12 |
84,860,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1513:Ltbp2
|
UTSW |
12 |
84,838,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1858:Ltbp2
|
UTSW |
12 |
84,877,555 (GRCm39) |
nonsense |
probably null |
|
|
R1880:Ltbp2
|
UTSW |
12 |
84,876,045 (GRCm39) |
missense |
probably benign |
0.45 |
|
R1894:Ltbp2
|
UTSW |
12 |
84,834,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1903:Ltbp2
|
UTSW |
12 |
84,876,879 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1912:Ltbp2
|
UTSW |
12 |
84,832,637 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1993:Ltbp2
|
UTSW |
12 |
84,855,220 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1995:Ltbp2
|
UTSW |
12 |
84,855,220 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2069:Ltbp2
|
UTSW |
12 |
84,840,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2126:Ltbp2
|
UTSW |
12 |
84,832,483 (GRCm39) |
splice site |
probably null |
|
|
R2139:Ltbp2
|
UTSW |
12 |
84,862,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2341:Ltbp2
|
UTSW |
12 |
84,855,937 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2511:Ltbp2
|
UTSW |
12 |
84,851,183 (GRCm39) |
splice site |
probably null |
|
|
R3737:Ltbp2
|
UTSW |
12 |
84,851,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3738:Ltbp2
|
UTSW |
12 |
84,851,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3739:Ltbp2
|
UTSW |
12 |
84,851,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3889:Ltbp2
|
UTSW |
12 |
84,831,681 (GRCm39) |
unclassified |
probably benign |
|
|
R4034:Ltbp2
|
UTSW |
12 |
84,851,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4542:Ltbp2
|
UTSW |
12 |
84,878,593 (GRCm39) |
nonsense |
probably null |
|
|
R4621:Ltbp2
|
UTSW |
12 |
84,856,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4623:Ltbp2
|
UTSW |
12 |
84,856,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4831:Ltbp2
|
UTSW |
12 |
84,840,414 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5080:Ltbp2
|
UTSW |
12 |
84,850,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5116:Ltbp2
|
UTSW |
12 |
84,856,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5351:Ltbp2
|
UTSW |
12 |
84,837,132 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5445:Ltbp2
|
UTSW |
12 |
84,856,428 (GRCm39) |
missense |
probably null |
1.00 |
|
R5608:Ltbp2
|
UTSW |
12 |
84,834,238 (GRCm39) |
splice site |
probably null |
|
|
R5784:Ltbp2
|
UTSW |
12 |
84,915,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5838:Ltbp2
|
UTSW |
12 |
84,835,875 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5859:Ltbp2
|
UTSW |
12 |
84,840,837 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6004:Ltbp2
|
UTSW |
12 |
84,922,923 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6028:Ltbp2
|
UTSW |
12 |
84,831,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6347:Ltbp2
|
UTSW |
12 |
84,900,686 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6615:Ltbp2
|
UTSW |
12 |
84,860,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6636:Ltbp2
|
UTSW |
12 |
84,922,612 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6637:Ltbp2
|
UTSW |
12 |
84,922,612 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6755:Ltbp2
|
UTSW |
12 |
84,841,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6759:Ltbp2
|
UTSW |
12 |
84,834,184 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6806:Ltbp2
|
UTSW |
12 |
84,856,012 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6968:Ltbp2
|
UTSW |
12 |
84,835,857 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7084:Ltbp2
|
UTSW |
12 |
84,915,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7250:Ltbp2
|
UTSW |
12 |
84,834,166 (GRCm39) |
nonsense |
probably null |
|
|
R7374:Ltbp2
|
UTSW |
12 |
84,876,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7501:Ltbp2
|
UTSW |
12 |
84,877,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7523:Ltbp2
|
UTSW |
12 |
84,837,808 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7754:Ltbp2
|
UTSW |
12 |
84,860,012 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7827:Ltbp2
|
UTSW |
12 |
84,836,655 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8042:Ltbp2
|
UTSW |
12 |
84,838,673 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8110:Ltbp2
|
UTSW |
12 |
84,850,676 (GRCm39) |
nonsense |
probably null |
|
|
R8411:Ltbp2
|
UTSW |
12 |
84,833,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8688:Ltbp2
|
UTSW |
12 |
84,850,578 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8711:Ltbp2
|
UTSW |
12 |
84,900,515 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8712:Ltbp2
|
UTSW |
12 |
84,853,124 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8893:Ltbp2
|
UTSW |
12 |
84,875,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8978:Ltbp2
|
UTSW |
12 |
84,834,164 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9016:Ltbp2
|
UTSW |
12 |
84,856,467 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9123:Ltbp2
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9129:Ltbp2
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9132:Ltbp2
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9144:Ltbp2
|
UTSW |
12 |
84,856,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9150:Ltbp2
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9152:Ltbp2
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9156:Ltbp2
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9157:Ltbp2
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9158:Ltbp2
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9159:Ltbp2
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9160:Ltbp2
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9199:Ltbp2
|
UTSW |
12 |
84,832,750 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9212:Ltbp2
|
UTSW |
12 |
84,839,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9275:Ltbp2
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9276:Ltbp2
|
UTSW |
12 |
84,876,885 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9276:Ltbp2
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9278:Ltbp2
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9279:Ltbp2
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9280:Ltbp2
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9281:Ltbp2
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9312:Ltbp2
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9313:Ltbp2
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9331:Ltbp2
|
UTSW |
12 |
84,922,965 (GRCm39) |
missense |
probably benign |
|
|
R9355:Ltbp2
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9375:Ltbp2
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9377:Ltbp2
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9378:Ltbp2
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9450:Ltbp2
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9457:Ltbp2
|
UTSW |
12 |
84,835,927 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9486:Ltbp2
|
UTSW |
12 |
84,878,648 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9505:Ltbp2
|
UTSW |
12 |
84,900,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9512:Ltbp2
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9581:Ltbp2
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9582:Ltbp2
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9645:Ltbp2
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9747:Ltbp2
|
UTSW |
12 |
84,915,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9792:Ltbp2
|
UTSW |
12 |
84,876,128 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9795:Ltbp2
|
UTSW |
12 |
84,876,128 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0017:Ltbp2
|
UTSW |
12 |
84,875,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0026:Ltbp2
|
UTSW |
12 |
84,876,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Ltbp2
|
UTSW |
12 |
84,922,627 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Ltbp2
|
UTSW |
12 |
84,876,090 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCCCTAGCATAAAGGTGAGC -3'
(R):5'- TCCAGGACCCAAGTTCTCTC -3'
Sequencing Primer
(F):5'- GTGACTTGCTTGGAATCACACAGC -3'
(R):5'- TCTCTCTGCAGGGCTGAAC -3'
|
| Posted On |
2014-07-14 |
Incidental Mutation