Incidental Mutation 'R5702:Ltbp3'
ID 451772
Institutional Source Beutler Lab
Gene Symbol Ltbp3
Ensembl Gene ENSMUSG00000024940
Gene Name latent transforming growth factor beta binding protein 3
Synonyms Ltbp2
MMRRC Submission 043182-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.198) question?
Stock # R5702 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 5790932-5808560 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 5797849 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 496 (R496L)
Ref Sequence ENSEMBL: ENSMUSP00000080214 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081496]
AlphaFold Q61810
Predicted Effect probably benign
Transcript: ENSMUST00000081496
AA Change: R496L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000080214
Gene: ENSMUSG00000024940
AA Change: R496L

DomainStartEndE-ValueType
signal peptide 1 37 N/A INTRINSIC
EGF 109 138 6.76e-3 SMART
low complexity region 140 154 N/A INTRINSIC
low complexity region 191 199 N/A INTRINSIC
low complexity region 221 233 N/A INTRINSIC
low complexity region 254 273 N/A INTRINSIC
Pfam:TB 286 323 8e-9 PFAM
EGF_CA 352 392 2.08e-12 SMART
Pfam:TB 411 451 4.8e-18 PFAM
low complexity region 526 537 N/A INTRINSIC
EGF_CA 571 612 8.71e-6 SMART
EGF_CA 613 656 2.8e-9 SMART
EGF_CA 657 699 2.48e-10 SMART
EGF_CA 700 740 4.96e-10 SMART
EGF_CA 741 781 1.69e-12 SMART
EGF_CA 782 822 1.94e-12 SMART
EGF_CA 823 862 3.27e-10 SMART
EGF_CA 863 905 3.32e-11 SMART
Pfam:TB 925 967 5.7e-16 PFAM
EGF_CA 990 1032 4.49e-8 SMART
EGF_CA 1033 1073 3.17e-8 SMART
Pfam:TB 1097 1134 1.2e-11 PFAM
EGF 1170 1203 1.53e1 SMART
EGF_CA 1204 1248 1.53e-10 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
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 forms a complex with transforming growth factor beta (TGF-beta) proteins and may be involved in their subcellular localization. Activation of this complex requires removal of the encoded binding protein. This protein also may play a structural role in the extracellular matrix. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit craniofacial malformations including an overshot mandible and ossification of synchondroses. Mutants develop osteosclerosis of long bones and osteoarthritis, and, in some cases, high corticosterone levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a G A 5: 8,787,752 (GRCm39) S1018N probably benign Het
Adat1 G T 8: 112,704,704 (GRCm39) T414K probably benign Het
Ahnak G T 19: 8,979,204 (GRCm39) V163L probably damaging Het
Atf6b T C 17: 34,869,978 (GRCm39) I288T possibly damaging Het
Blm A T 7: 80,108,675 (GRCm39) V1323E probably benign Het
Brap T A 5: 121,803,206 (GRCm39) L118Q probably damaging Het
C1qbp G A 11: 70,869,570 (GRCm39) T171I probably benign Het
Ccdc136 C A 6: 29,412,981 (GRCm39) H455Q probably damaging Het
Chd3 A T 11: 69,252,261 (GRCm39) V47D possibly damaging Het
Cnot10 A C 9: 114,458,078 (GRCm39) F143V probably damaging Het
Cnot8 T C 11: 58,004,873 (GRCm39) S191P possibly damaging Het
Coro2b G A 9: 62,333,859 (GRCm39) T345I probably damaging Het
Dennd1b T C 1: 139,061,413 (GRCm39) I365T probably damaging Het
Dnah11 C A 12: 118,077,642 (GRCm39) A1284S probably benign Het
Dock4 G A 12: 40,787,490 (GRCm39) D802N probably benign Het
Dsg1a T C 18: 20,469,922 (GRCm39) probably null Het
Elp3 C T 14: 65,815,431 (GRCm39) R187Q probably damaging Het
Ercc3 G A 18: 32,387,206 (GRCm39) R473Q probably damaging Het
F5 G A 1: 164,022,116 (GRCm39) W1530* probably null Het
Fmnl1 T C 11: 103,076,491 (GRCm39) I219T probably damaging Het
Gemin4 G A 11: 76,101,663 (GRCm39) R1033C probably benign Het
Gm2381 T A 7: 42,471,820 (GRCm39) I20F probably benign Het
Hmgcll1 A G 9: 75,991,672 (GRCm39) M129V possibly damaging Het
Mettl13 A G 1: 162,373,549 (GRCm39) V234A probably benign Het
Minar1 G A 9: 89,473,208 (GRCm39) A901V probably benign Het
Or1j4 A G 2: 36,740,946 (GRCm39) D296G probably damaging Het
Pde7a A T 3: 19,295,371 (GRCm39) C146* probably null Het
Pla2g4e T A 2: 120,018,992 (GRCm39) N202Y possibly damaging Het
Plk5 G A 10: 80,196,401 (GRCm39) probably null Het
Plscr1l1 G A 9: 92,225,741 (GRCm39) probably null Het
Ptpn7 A G 1: 135,061,582 (GRCm39) T15A probably benign Het
Rrn3 T A 16: 13,631,130 (GRCm39) Y655* probably null Het
Scarb2 C T 5: 92,599,255 (GRCm39) G355D probably damaging Het
Scd2 G A 19: 44,286,502 (GRCm39) A111T possibly damaging Het
Smim8 TTTAATGAAGAGCT TT 4: 34,771,261 (GRCm39) probably benign Het
Smurf1 T C 5: 144,838,021 (GRCm39) T57A possibly damaging Het
Spire2 C T 8: 124,073,402 (GRCm39) P94S probably benign Het
Tex2 T C 11: 106,435,221 (GRCm39) H237R possibly damaging Het
Vmn2r109 T C 17: 20,774,407 (GRCm39) D316G probably benign Het
Zfp830 T A 11: 82,655,800 (GRCm39) F201L possibly damaging Het
Zic1 A G 9: 91,246,133 (GRCm39) F313S probably damaging Het
Other mutations in Ltbp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00507:Ltbp3 APN 19 5,806,044 (GRCm39) missense probably damaging 0.99
IGL00978:Ltbp3 APN 19 5,804,047 (GRCm39) missense probably benign 0.26
IGL01517:Ltbp3 APN 19 5,807,760 (GRCm39) missense possibly damaging 0.57
IGL01529:Ltbp3 APN 19 5,797,867 (GRCm39) missense probably benign 0.06
IGL03119:Ltbp3 APN 19 5,807,471 (GRCm39) missense probably damaging 0.98
abner UTSW 19 5,795,685 (GRCm39) missense probably benign 0.09
csp UTSW 19 5,797,716 (GRCm39) missense probably damaging 1.00
lilia UTSW 19 5,797,885 (GRCm39) critical splice donor site probably null
Rapunzel UTSW 19 5,803,970 (GRCm39) nonsense probably null
PIT4305001:Ltbp3 UTSW 19 5,802,095 (GRCm39) missense probably damaging 0.99
PIT4453001:Ltbp3 UTSW 19 5,807,822 (GRCm39) missense probably damaging 0.97
PIT4480001:Ltbp3 UTSW 19 5,801,254 (GRCm39) missense possibly damaging 0.73
R0211:Ltbp3 UTSW 19 5,802,171 (GRCm39) critical splice donor site probably null
R0718:Ltbp3 UTSW 19 5,796,776 (GRCm39) splice site probably benign
R1103:Ltbp3 UTSW 19 5,797,440 (GRCm39) critical splice acceptor site probably null
R1103:Ltbp3 UTSW 19 5,797,439 (GRCm39) critical splice acceptor site probably null
R1299:Ltbp3 UTSW 19 5,795,456 (GRCm39) splice site probably benign
R1510:Ltbp3 UTSW 19 5,798,915 (GRCm39) missense probably benign 0.02
R1616:Ltbp3 UTSW 19 5,796,995 (GRCm39) missense probably damaging 1.00
R1682:Ltbp3 UTSW 19 5,801,782 (GRCm39) missense probably benign 0.02
R1752:Ltbp3 UTSW 19 5,795,685 (GRCm39) missense probably benign 0.09
R1806:Ltbp3 UTSW 19 5,803,970 (GRCm39) nonsense probably null
R1866:Ltbp3 UTSW 19 5,797,877 (GRCm39) missense probably benign 0.43
R1981:Ltbp3 UTSW 19 5,808,107 (GRCm39) missense probably benign 0.15
R2211:Ltbp3 UTSW 19 5,803,990 (GRCm39) missense possibly damaging 0.79
R2239:Ltbp3 UTSW 19 5,801,551 (GRCm39) nonsense probably null
R2261:Ltbp3 UTSW 19 5,804,050 (GRCm39) missense probably benign 0.02
R2263:Ltbp3 UTSW 19 5,804,050 (GRCm39) missense probably benign 0.02
R2380:Ltbp3 UTSW 19 5,801,551 (GRCm39) nonsense probably null
R2412:Ltbp3 UTSW 19 5,796,673 (GRCm39) missense probably benign 0.08
R2446:Ltbp3 UTSW 19 5,804,050 (GRCm39) missense probably benign 0.02
R2449:Ltbp3 UTSW 19 5,804,050 (GRCm39) missense probably benign 0.02
R3056:Ltbp3 UTSW 19 5,801,434 (GRCm39) missense probably benign 0.11
R3080:Ltbp3 UTSW 19 5,806,916 (GRCm39) frame shift probably null
R3863:Ltbp3 UTSW 19 5,804,050 (GRCm39) missense probably benign 0.02
R3864:Ltbp3 UTSW 19 5,804,050 (GRCm39) missense probably benign 0.02
R3951:Ltbp3 UTSW 19 5,806,029 (GRCm39) missense probably damaging 1.00
R3961:Ltbp3 UTSW 19 5,804,050 (GRCm39) missense probably benign 0.02
R3962:Ltbp3 UTSW 19 5,804,050 (GRCm39) missense probably benign 0.02
R3963:Ltbp3 UTSW 19 5,804,050 (GRCm39) missense probably benign 0.02
R3972:Ltbp3 UTSW 19 5,804,050 (GRCm39) missense probably benign 0.02
R4028:Ltbp3 UTSW 19 5,804,050 (GRCm39) missense probably benign 0.02
R4031:Ltbp3 UTSW 19 5,804,050 (GRCm39) missense probably benign 0.02
R4041:Ltbp3 UTSW 19 5,801,899 (GRCm39) missense possibly damaging 0.95
R4060:Ltbp3 UTSW 19 5,792,348 (GRCm39) missense probably benign 0.41
R4296:Ltbp3 UTSW 19 5,806,610 (GRCm39) critical splice acceptor site probably null
R4525:Ltbp3 UTSW 19 5,796,387 (GRCm39) missense probably benign 0.09
R4660:Ltbp3 UTSW 19 5,798,814 (GRCm39) splice site probably null
R4794:Ltbp3 UTSW 19 5,806,707 (GRCm39) missense probably damaging 1.00
R4980:Ltbp3 UTSW 19 5,803,955 (GRCm39) critical splice acceptor site probably null
R5071:Ltbp3 UTSW 19 5,806,851 (GRCm39) missense probably damaging 1.00
R5771:Ltbp3 UTSW 19 5,797,572 (GRCm39) missense probably damaging 1.00
R6021:Ltbp3 UTSW 19 5,803,708 (GRCm39) missense probably benign 0.00
R6053:Ltbp3 UTSW 19 5,802,122 (GRCm39) missense probably damaging 0.98
R6321:Ltbp3 UTSW 19 5,795,685 (GRCm39) missense probably benign 0.09
R6339:Ltbp3 UTSW 19 5,797,505 (GRCm39) missense probably damaging 1.00
R6371:Ltbp3 UTSW 19 5,795,800 (GRCm39) splice site probably null
R6709:Ltbp3 UTSW 19 5,797,885 (GRCm39) critical splice donor site probably null
R7666:Ltbp3 UTSW 19 5,797,034 (GRCm39) missense possibly damaging 0.79
R8499:Ltbp3 UTSW 19 5,798,712 (GRCm39) missense probably benign 0.01
R8937:Ltbp3 UTSW 19 5,797,512 (GRCm39) missense probably benign 0.09
R9362:Ltbp3 UTSW 19 5,803,697 (GRCm39) missense probably benign 0.01
R9645:Ltbp3 UTSW 19 5,802,099 (GRCm39) missense probably damaging 1.00
R9697:Ltbp3 UTSW 19 5,792,521 (GRCm39) missense probably benign 0.00
R9774:Ltbp3 UTSW 19 5,804,014 (GRCm39) missense probably benign 0.08
X0066:Ltbp3 UTSW 19 5,801,305 (GRCm39) missense probably benign 0.01
Z1177:Ltbp3 UTSW 19 5,797,758 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCATCTTGACCACAGCAGC -3'
(R):5'- CAGTGTTCAGGCTAGGGATTTAC -3'

Sequencing Primer
(F):5'- CAGCAGCCTTCAAGGAGATCTG -3'
(R):5'- GCAGGATATCTGATATGTGACACCC -3'
Posted On 2017-01-03