Incidental Mutation 'R1752:Ltbp3'
ID 193673
Institutional Source Beutler Lab
Gene Symbol Ltbp3
Ensembl Gene ENSMUSG00000024940
Gene Name latent transforming growth factor beta binding protein 3
Synonyms Ltbp2
MMRRC Submission 039784-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.198) question?
Stock # R1752 (G1)
Quality Score 138
Status Not validated
Chromosome 19
Chromosomal Location 5790932-5808560 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 5795685 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 180 (H180Q)
Ref Sequence ENSEMBL: ENSMUSP00000080214 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081496]
AlphaFold Q61810
Predicted Effect probably benign
Transcript: ENSMUST00000081496
AA Change: H180Q

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000080214
Gene: ENSMUSG00000024940
AA Change: H180Q

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
Meta Mutation Damage Score 0.0800 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.2%
  • 20x: 92.3%
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 79,842,468 (GRCm39) V1134A probably benign Het
Accsl C T 2: 93,688,375 (GRCm39) G420S probably damaging Het
Adam29 A G 8: 56,325,309 (GRCm39) S382P probably damaging Het
Apob T C 12: 8,038,766 (GRCm39) L393P probably benign Het
Arhgef19 T G 4: 140,978,354 (GRCm39) S616A probably benign Het
Atp11a C T 8: 12,863,094 (GRCm39) T91I probably damaging Het
Ccdc88b C T 19: 6,830,690 (GRCm39) V751I probably benign Het
Ccni T C 5: 93,350,315 (GRCm39) probably benign Het
Cd2 G A 3: 101,183,511 (GRCm39) A266V probably benign Het
Cd33 T C 7: 43,181,722 (GRCm39) D146G probably benign Het
Cdh16 A G 8: 105,346,505 (GRCm39) probably null Het
Chd1 T C 17: 15,963,494 (GRCm39) probably null Het
Chd5 A T 4: 152,459,590 (GRCm39) I1109F probably damaging Het
Cir1 T C 2: 73,140,882 (GRCm39) E29G probably damaging Het
Clec5a T C 6: 40,559,187 (GRCm39) T66A probably damaging Het
Cpa2 A G 6: 30,552,023 (GRCm39) D250G probably damaging Het
Crybg2 T A 4: 133,800,961 (GRCm39) L707H probably damaging Het
Csmd3 T C 15: 47,523,669 (GRCm39) T2646A probably benign Het
Cul7 G A 17: 46,964,093 (GRCm39) R390Q probably benign Het
Cyp2c69 T A 19: 39,869,597 (GRCm39) I141F probably damaging Het
Dapk2 C G 9: 66,127,925 (GRCm39) R68G probably damaging Het
Dclk2 C T 3: 86,713,434 (GRCm39) V470I possibly damaging Het
Dixdc1 A G 9: 50,593,850 (GRCm39) V530A probably benign Het
Dock7 A G 4: 98,854,681 (GRCm39) F1528L probably damaging Het
Edn1 T A 13: 42,457,075 (GRCm39) V36E possibly damaging Het
Eng T C 2: 32,563,404 (GRCm39) V319A probably benign Het
Epb41l2 A G 10: 25,336,690 (GRCm39) K229E probably damaging Het
Fam184a T C 10: 53,550,666 (GRCm39) N698S probably benign Het
Fndc7 T C 3: 108,776,646 (GRCm39) N465S probably benign Het
Fstl4 T C 11: 53,077,622 (GRCm39) V793A probably benign Het
Gm9797 A T 10: 11,485,287 (GRCm39) noncoding transcript Het
Hsd17b4 T C 18: 50,303,834 (GRCm39) S436P probably benign Het
Itsn2 T G 12: 4,761,950 (GRCm39) probably null Het
Kank3 T C 17: 34,038,791 (GRCm39) V570A probably damaging Het
Kif13a A T 13: 46,951,885 (GRCm39) F733Y probably damaging Het
Kif16b G T 2: 142,532,586 (GRCm39) D1184E probably benign Het
Kif20a A G 18: 34,764,634 (GRCm39) D727G possibly damaging Het
Kif20b T A 19: 34,915,736 (GRCm39) S504R probably benign Het
Lrrc37 T C 11: 103,505,381 (GRCm39) T2196A possibly damaging Het
Luzp2 T C 7: 54,914,088 (GRCm39) S306P possibly damaging Het
Macf1 T C 4: 123,377,465 (GRCm39) I1490V possibly damaging Het
Manba T A 3: 135,212,706 (GRCm39) W72R probably damaging Het
Mast1 A G 8: 85,651,965 (GRCm39) V339A probably benign Het
Mnx1 A G 5: 29,682,727 (GRCm39) S183P unknown Het
Muc5b T G 7: 141,421,488 (GRCm39) L4326R possibly damaging Het
Myb T C 10: 21,032,336 (GRCm39) D15G possibly damaging Het
Ncapg2 A T 12: 116,390,338 (GRCm39) D429V probably damaging Het
Neurod6 A G 6: 55,656,511 (GRCm39) V42A probably benign Het
Nfxl1 A T 5: 72,698,218 (GRCm39) C276S probably damaging Het
Nptx2 C A 5: 144,492,171 (GRCm39) T316N probably damaging Het
Nrp2 T A 1: 62,777,600 (GRCm39) F135Y probably damaging Het
Nxpe3 A T 16: 55,686,837 (GRCm39) F57Y probably benign Het
Or4c109 C A 2: 88,817,659 (GRCm39) A296S possibly damaging Het
Or51ag1 T A 7: 103,155,765 (GRCm39) R129S probably benign Het
Osbpl11 T C 16: 33,025,205 (GRCm39) Y144H probably damaging Het
Pax5 T C 4: 44,609,729 (GRCm39) Y233C probably damaging Het
Pck1 A G 2: 172,998,906 (GRCm39) N388S probably benign Het
Plcd3 T A 11: 102,971,085 (GRCm39) Q157L probably benign Het
Pnma2 A C 14: 67,153,785 (GRCm39) M70L probably benign Het
Pogk T C 1: 166,235,997 (GRCm39) K35E probably damaging Het
Ptprb T A 10: 116,176,895 (GRCm39) V1227E probably benign Het
Pygm T A 19: 6,441,064 (GRCm39) V450E probably damaging Het
Rb1 T A 14: 73,525,064 (GRCm39) I190F probably damaging Het
Setd2 T A 9: 110,423,673 (GRCm39) Y2243N probably damaging Het
Slc11a2 A T 15: 100,303,687 (GRCm39) L182Q probably damaging Het
Slc45a3 T C 1: 131,905,259 (GRCm39) L94P probably damaging Het
Slc9a4 T C 1: 40,668,421 (GRCm39) F688S probably benign Het
Slit3 A T 11: 35,455,480 (GRCm39) I196F probably damaging Het
Sprn G A 7: 139,733,408 (GRCm39) probably benign Het
Spsb2 A G 6: 124,787,292 (GRCm39) D242G probably benign Het
Srpk2 A G 5: 23,733,017 (GRCm39) I111T probably damaging Het
St8sia4 T A 1: 95,519,537 (GRCm39) Y317F probably benign Het
Stat5a T A 11: 100,774,884 (GRCm39) *798K probably null Het
Sult1c2 C T 17: 54,271,777 (GRCm39) V137M possibly damaging Het
Synj1 T C 16: 90,735,361 (GRCm39) T1531A probably benign Het
Tasor T A 14: 27,193,885 (GRCm39) Y1028* probably null Het
Tax1bp1 A G 6: 52,698,398 (GRCm39) T37A probably damaging Het
Tet1 T A 10: 62,648,768 (GRCm39) D1888V probably damaging Het
Tln1 T C 4: 43,536,311 (GRCm39) T1994A probably damaging Het
Tmco3 A C 8: 13,341,741 (GRCm39) D5A probably benign Het
Tnk1 T A 11: 69,747,532 (GRCm39) N74I possibly damaging Het
Ttc16 A T 2: 32,662,162 (GRCm39) S120T probably damaging Het
Ttn T A 2: 76,774,448 (GRCm39) T2153S probably damaging Het
Ttn A G 2: 76,594,606 (GRCm39) V20480A probably damaging Het
Usp4 T C 9: 108,251,441 (GRCm39) Y539H probably damaging Het
Zar1 A C 5: 72,734,715 (GRCm39) V168G probably damaging Het
Zcchc9 T C 13: 91,953,899 (GRCm39) K119E possibly damaging Het
Zfp251 T C 15: 76,737,863 (GRCm39) N410S possibly damaging Het
Zfp605 A T 5: 110,271,639 (GRCm39) D10V probably damaging Het
Zyg11a A T 4: 108,062,479 (GRCm39) N107K possibly 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
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
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'- CTAATGGGAAGTCCACACAGTGAGC -3'
(R):5'- TTGGGCAATGTGTCCTGGAAGC -3'

Sequencing Primer
(F):5'- GCTCTTCCCGAAACCAGTG -3'
(R):5'- GATGGACACGCACGTTCAC -3'
Posted On 2014-05-23