Incidental Mutation 'R3056:Ltbp3'
ID 265195
Institutional Source Beutler Lab
Gene Symbol Ltbp3
Ensembl Gene ENSMUSG00000024940
Gene Name latent transforming growth factor beta binding protein 3
Synonyms Ltbp2
MMRRC Submission 040565-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.198) question?
Stock # R3056 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 5790932-5808560 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 5801434 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 659 (N659K)
Ref Sequence ENSEMBL: ENSMUSP00000080214 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081496]
AlphaFold Q61810
Predicted Effect probably benign
Transcript: ENSMUST00000081496
AA Change: N659K

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000080214
Gene: ENSMUSG00000024940
AA Change: N659K

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm4 A G 4: 144,401,268 (GRCm39) I72T probably benign Het
Abca1 A T 4: 53,127,626 (GRCm39) M131K probably benign Het
Agbl1 C T 7: 76,416,232 (GRCm39) T751M possibly damaging Het
Asb14 A G 14: 26,636,146 (GRCm39) I510V possibly damaging Het
Bard1 A G 1: 71,127,390 (GRCm39) V73A possibly damaging Het
C6 T C 15: 4,769,355 (GRCm39) I187T probably damaging Het
Catsper3 T C 13: 55,956,709 (GRCm39) S376P unknown Het
Ccdc150 A G 1: 54,328,001 (GRCm39) N361S possibly damaging Het
Cntn5 A G 9: 10,419,076 (GRCm39) L7P probably benign Het
Cplane1 T C 15: 8,280,491 (GRCm39) S2805P unknown Het
Cxcr6 A T 9: 123,639,529 (GRCm39) I177F probably damaging Het
Dnah7b A G 1: 46,307,869 (GRCm39) D3061G possibly damaging Het
Epas1 T C 17: 87,138,409 (GRCm39) F835S probably damaging Het
Fat3 C T 9: 15,871,792 (GRCm39) R3533H probably benign Het
Fxr1 A G 3: 34,103,333 (GRCm39) E221G probably damaging Het
Gpatch11 A G 17: 79,151,272 (GRCm39) T228A probably damaging Het
Greb1 G T 12: 16,738,592 (GRCm39) T1457K probably damaging Het
Ighm T A 12: 113,382,596 (GRCm39) probably benign Het
Ints12 G A 3: 132,815,126 (GRCm39) M444I possibly damaging Het
Lmx1b G A 2: 33,457,297 (GRCm39) Q168* probably null Het
Micos13 A G 17: 56,915,889 (GRCm39) F55S probably damaging Het
Mrpl20 G T 4: 155,888,329 (GRCm39) V43F possibly damaging Het
Nlgn1 T C 3: 25,487,860 (GRCm39) N825S possibly damaging Het
Or5d36 T A 2: 87,901,583 (GRCm39) T48S probably benign Het
Or5p67 A T 7: 107,922,757 (GRCm39) V42E possibly damaging Het
Or8k3b C A 2: 86,520,896 (GRCm39) C141F possibly damaging Het
Pccb C T 9: 100,912,250 (GRCm39) R79Q probably damaging Het
Peg10 G A 6: 4,755,029 (GRCm39) R270H possibly damaging Het
Pttg1ip2 A T 5: 5,507,283 (GRCm39) probably null Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Slc4a4 T C 5: 89,373,807 (GRCm39) V971A probably damaging Het
Timm29 T C 9: 21,504,887 (GRCm39) M185T probably damaging Het
Tmem92 C T 11: 94,669,873 (GRCm39) C86Y probably benign Het
Tnfrsf8 C T 4: 145,011,895 (GRCm39) probably null Het
Tnks1bp1 T A 2: 84,900,344 (GRCm39) C1433* probably null Het
Utp14b T A 1: 78,642,442 (GRCm39) D113E possibly damaging Het
Vmn2r110 T A 17: 20,803,360 (GRCm39) Y405F probably damaging Het
Wiz A G 17: 32,576,671 (GRCm39) S628P probably benign Het
Xrcc4 T C 13: 90,210,196 (GRCm39) T83A probably benign 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
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
R5702:Ltbp3 UTSW 19 5,797,849 (GRCm39) missense probably benign
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'- ATCCTTCCAGATGTGAACGAGTG -3'
(R):5'- TCGAGGGACGGTTATGATGC -3'

Sequencing Primer
(F):5'- GAACACTGGTGGCTCCTACAATTG -3'
(R):5'- ATGATGCCCGCTTTGGTC -3'
Posted On 2015-02-05