Incidental Mutation 'R4034:Ltbp2'
ID 313637
Institutional Source Beutler Lab
Gene Symbol Ltbp2
Ensembl Gene ENSMUSG00000002020
Gene Name latent transforming growth factor beta binding protein 2
Synonyms
MMRRC Submission 040962-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.794) question?
Stock # R4034 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 84829986-84923306 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 84851248 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 836 (C836S)
Ref Sequence ENSEMBL: ENSMUSP00000127693 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002073] [ENSMUST00000110254] [ENSMUST00000163189]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000002073
AA Change: C836S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002073
Gene: ENSMUSG00000002020
AA Change: C836S

DomainStartEndE-ValueType
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: C856S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105883
Gene: ENSMUSG00000002020
AA Change: C856S

DomainStartEndE-ValueType
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: C836S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127693
Gene: ENSMUSG00000002020
AA Change: C836S

DomainStartEndE-ValueType
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 0.8731 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik2 A T 11: 48,910,108 (GRCm39) L775* probably null Het
Aarsd1 C T 11: 101,302,158 (GRCm39) V301I probably damaging Het
Arap1 A T 7: 101,049,484 (GRCm39) Y982F possibly damaging Het
Aspa T C 11: 73,199,597 (GRCm39) K227E possibly damaging Het
Ccdc168 A G 1: 44,098,026 (GRCm39) V1024A probably benign Het
Ccdc88c G A 12: 100,896,783 (GRCm39) A1389V possibly damaging Het
Cngb1 C A 8: 95,991,078 (GRCm39) C708F possibly damaging Het
Csn1s2a A G 5: 87,929,746 (GRCm39) Q115R probably benign Het
Cwf19l2 A T 9: 3,456,803 (GRCm39) H712L probably benign Het
Eml6 C A 11: 29,753,137 (GRCm39) V925L probably benign Het
Fbll1 G A 11: 35,688,505 (GRCm39) H253Y possibly damaging Het
Hmgcr C G 13: 96,787,571 (GRCm39) L852F probably damaging Het
Mroh9 A G 1: 162,908,122 (GRCm39) probably null Het
Muc5ac G A 7: 141,353,581 (GRCm39) probably null Het
Or2y1 A G 11: 49,386,287 (GRCm39) D309G possibly damaging Het
Pgm5 T A 19: 24,839,021 (GRCm39) I45F probably damaging Het
Ppl T C 16: 4,924,721 (GRCm39) T115A probably benign Het
Sgpp1 A G 12: 75,762,964 (GRCm39) Y406H probably damaging Het
Srsf4 C T 4: 131,627,413 (GRCm39) probably benign Het
St18 G A 1: 6,925,697 (GRCm39) probably null Het
Tcerg1 T A 18: 42,652,598 (GRCm39) N75K unknown Het
Tmco4 T C 4: 138,748,172 (GRCm39) Y251H probably damaging Het
Usp42 C T 5: 143,701,194 (GRCm39) S943N probably benign Het
Utp20 C T 10: 88,598,668 (GRCm39) V103I probably benign Het
Vmn1r14 G A 6: 57,211,310 (GRCm39) R252H possibly damaging Het
Wapl T C 14: 34,459,871 (GRCm39) V1013A possibly damaging Het
Zfp37 G A 4: 62,109,933 (GRCm39) T414I probably damaging Het
Zfp423 A G 8: 88,507,972 (GRCm39) C666R probably damaging Het
Other mutations in Ltbp2
AlleleSourceChrCoordTypePredicted EffectPPH 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
R1900:Ltbp2 UTSW 12 84,877,432 (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
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'- GGATCTTGTGTAGCCTGGAC -3'
(R):5'- CAGGTCCCACCAGTCTTATG -3'

Sequencing Primer
(F):5'- TGGACTCGTGACTGCATCC -3'
(R):5'- CACCAGTCTTATGAGGCTATTTTATC -3'
Posted On 2015-04-30