Incidental Mutation 'IGL03028:Tgfb2'
ID 408312
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tgfb2
Ensembl Gene ENSMUSG00000039239
Gene Name transforming growth factor, beta 2
Synonyms Tgfb-2, Tgf-beta2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03028
Quality Score
Status
Chromosome 1
Chromosomal Location 186354989-186438186 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 186362806 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142149 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045288] [ENSMUST00000195201]
AlphaFold P27090
Predicted Effect probably null
Transcript: ENSMUST00000045288
SMART Domains Protein: ENSMUSP00000043849
Gene: ENSMUSG00000039239

DomainStartEndE-ValueType
Pfam:TGFb_propeptide 20 284 1.1e-38 PFAM
TGFB 317 414 1.25e-37 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191766
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194593
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194960
Predicted Effect probably null
Transcript: ENSMUST00000195201
SMART Domains Protein: ENSMUSP00000142149
Gene: ENSMUSG00000039239

DomainStartEndE-ValueType
Pfam:TGFb_propeptide 9 138 2.4e-9 PFAM
Pfam:TGFb_propeptide 152 311 1.4e-23 PFAM
TGFB 345 442 6.1e-40 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGF-beta family members. Mice lacking a functional copy of this gene display developmental defects in multiple organs and perinatal lethality. Heterozygous mutant mice exhibit aortic root aneurysm. This gene encodes multiple isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit defects of the heart, lungs, skull, limbs, spinal column, eyes, inner ears, and urogenital system, and perinatal mortality. Heterozygotes show abnormalities of the Cowpers' gland and intestinal mucosa. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat1 A C 9: 53,506,062 (GRCm39) V86G probably benign Het
Adgra3 A T 5: 50,174,194 (GRCm39) W115R probably benign Het
Ahr G A 12: 35,554,709 (GRCm39) A470V probably benign Het
Aoah A T 13: 21,000,752 (GRCm39) Q62L possibly damaging Het
Arhgef12 A T 9: 42,937,524 (GRCm39) D100E possibly damaging Het
Asic1 A G 15: 99,570,038 (GRCm39) N120D probably benign Het
Atp2b2 A G 6: 113,736,103 (GRCm39) L988P probably damaging Het
Atxn2 T A 5: 121,948,972 (GRCm39) H789Q probably damaging Het
Clk1 G T 1: 58,460,261 (GRCm39) S123* probably null Het
Col10a1 C T 10: 34,271,012 (GRCm39) A328V probably benign Het
Col26a1 G T 5: 136,771,972 (GRCm39) D415E possibly damaging Het
Ctla2a A G 13: 61,083,273 (GRCm39) probably benign Het
Cwf19l2 A G 9: 3,430,622 (GRCm39) E318G probably benign Het
Dnajc16 C T 4: 141,495,043 (GRCm39) W523* probably null Het
Ehhadh T C 16: 21,581,144 (GRCm39) E616G probably damaging Het
F5 A T 1: 164,020,569 (GRCm39) K1015* probably null Het
Fam78a A G 2: 31,972,894 (GRCm39) W9R possibly damaging Het
Frs2 A T 10: 116,909,838 (GRCm39) M508K possibly damaging Het
Gm3164 A T 14: 4,440,111 (GRCm38) M200L probably benign Het
Gm44511 T C 6: 128,757,358 (GRCm39) S179G probably damaging Het
Gpr25 G A 1: 136,188,550 (GRCm39) S21L probably benign Het
Hsdl2 A G 4: 59,594,471 (GRCm39) D34G probably damaging Het
Kcnt1 A G 2: 25,799,215 (GRCm39) probably null Het
Kl A G 5: 150,915,015 (GRCm39) Y914C probably damaging Het
Map3k3 T G 11: 106,001,577 (GRCm39) V45G probably damaging Het
Mppe1 A C 18: 67,360,755 (GRCm39) C261W probably damaging Het
Nin T C 12: 70,082,044 (GRCm39) T1640A probably benign Het
Or51a8 T A 7: 102,550,036 (GRCm39) I154N possibly damaging Het
Or51ac3 A G 7: 103,213,796 (GRCm39) probably null Het
Or5c1 C T 2: 37,221,968 (GRCm39) L70F probably damaging Het
Or5p59 T A 7: 107,703,380 (GRCm39) M288K probably damaging Het
Or7g26 A T 9: 19,230,664 (GRCm39) Y284F probably damaging Het
Oxr1 A G 15: 41,680,559 (GRCm39) N166D probably damaging Het
Pank4 T A 4: 155,054,442 (GRCm39) probably benign Het
Pgd A G 4: 149,246,084 (GRCm39) probably null Het
Pitrm1 C T 13: 6,624,429 (GRCm39) H831Y probably benign Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Rad51 A C 2: 118,946,795 (GRCm39) M1L possibly damaging Het
Recql5 G T 11: 115,785,257 (GRCm39) S746R possibly damaging Het
Rhbdl3 C T 11: 80,214,287 (GRCm39) Q133* probably null Het
Rpp40 A T 13: 36,088,494 (GRCm39) L59Q probably damaging Het
Rtca C A 3: 116,286,741 (GRCm39) probably benign Het
Rtkn C T 6: 83,124,853 (GRCm39) Q108* probably null Het
Shoc1 A C 4: 59,094,274 (GRCm39) I150S possibly damaging Het
Sirt6 C T 10: 81,463,375 (GRCm39) probably benign Het
Slc9a4 G A 1: 40,649,537 (GRCm39) V517M probably benign Het
Smarca2 G T 19: 26,655,712 (GRCm39) probably benign Het
Snx33 A T 9: 56,833,735 (GRCm39) D111E probably benign Het
Tgfb1 T C 7: 25,403,621 (GRCm39) I311T probably damaging Het
Tmem232 T C 17: 65,563,384 (GRCm39) T670A probably benign Het
Tnfsf4 T C 1: 161,223,213 (GRCm39) F21L possibly damaging Het
Ubr5 T C 15: 38,047,837 (GRCm39) T47A probably benign Het
Unc79 T C 12: 103,139,785 (GRCm39) V2515A possibly damaging Het
Utp6 T C 11: 79,844,450 (GRCm39) K192E probably damaging Het
Vmn2r102 T C 17: 19,914,328 (GRCm39) F631S possibly damaging Het
Zfp516 A C 18: 82,974,038 (GRCm39) I79L possibly damaging Het
Other mutations in Tgfb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00959:Tgfb2 APN 1 186,436,784 (GRCm39) missense probably benign 0.39
IGL01304:Tgfb2 APN 1 186,357,670 (GRCm39) missense probably damaging 0.99
PIT4486001:Tgfb2 UTSW 1 186,422,924 (GRCm39) missense probably benign 0.04
R2017:Tgfb2 UTSW 1 186,362,962 (GRCm39) nonsense probably null
R2880:Tgfb2 UTSW 1 186,436,752 (GRCm39) missense probably damaging 1.00
R4182:Tgfb2 UTSW 1 186,361,222 (GRCm39) missense possibly damaging 0.95
R4292:Tgfb2 UTSW 1 186,364,735 (GRCm39) missense probably damaging 1.00
R4478:Tgfb2 UTSW 1 186,364,696 (GRCm39) missense probably damaging 1.00
R4801:Tgfb2 UTSW 1 186,361,110 (GRCm39) nonsense probably null
R4802:Tgfb2 UTSW 1 186,361,110 (GRCm39) nonsense probably null
R5247:Tgfb2 UTSW 1 186,382,111 (GRCm39) splice site probably null
R5254:Tgfb2 UTSW 1 186,436,680 (GRCm39) missense probably damaging 1.00
R5614:Tgfb2 UTSW 1 186,357,710 (GRCm39) missense probably benign 0.21
R5988:Tgfb2 UTSW 1 186,436,778 (GRCm39) missense probably benign 0.05
R6898:Tgfb2 UTSW 1 186,364,697 (GRCm39) missense probably damaging 1.00
R6961:Tgfb2 UTSW 1 186,382,032 (GRCm39) missense possibly damaging 0.67
R7098:Tgfb2 UTSW 1 186,362,834 (GRCm39) missense probably damaging 1.00
R7346:Tgfb2 UTSW 1 186,382,077 (GRCm39) missense probably benign 0.00
R7729:Tgfb2 UTSW 1 186,362,954 (GRCm39) missense possibly damaging 0.94
R8167:Tgfb2 UTSW 1 186,422,942 (GRCm39) missense possibly damaging 0.94
R8825:Tgfb2 UTSW 1 186,361,136 (GRCm39) missense probably damaging 1.00
R8884:Tgfb2 UTSW 1 186,364,907 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02