Incidental Mutation 'IGL00959:Tgfb2'
ID26716
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tgfb2
Ensembl Gene ENSMUSG00000039239
Gene Nametransforming growth factor, beta 2
SynonymsTgfb-2, Tgf-beta2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00959
Quality Score
Status
Chromosome1
Chromosomal Location186622792-186705989 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 186704587 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 63 (V63A)
Ref Sequence ENSEMBL: ENSMUSP00000142149 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045288] [ENSMUST00000195201]
Predicted Effect probably benign
Transcript: ENSMUST00000045288
AA Change: V63A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000043849
Gene: ENSMUSG00000039239
AA Change: V63A

DomainStartEndE-ValueType
Pfam:TGFb_propeptide 20 284 1.1e-38 PFAM
TGFB 317 414 1.25e-37 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189481
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193640
Predicted Effect probably benign
Transcript: ENSMUST00000195201
AA Change: V63A

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000142149
Gene: ENSMUSG00000039239
AA Change: V63A

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox12b A T 11: 69,166,243 H430L probably damaging Het
Aox4 G T 1: 58,239,174 V443F probably damaging Het
Bmpr2 A T 1: 59,815,315 I108F possibly damaging Het
Cflar G A 1: 58,729,162 probably null Het
Chchd3 A G 6: 32,968,253 V106A probably benign Het
Chl1 G T 6: 103,709,250 probably null Het
Clvs2 C T 10: 33,528,463 M252I probably benign Het
Cntnap5a T A 1: 116,184,327 L449Q probably benign Het
Col6a2 T A 10: 76,614,534 I188F probably damaging Het
Cyp2c55 A G 19: 39,038,143 D398G probably benign Het
Dennd1b T C 1: 139,143,888 probably benign Het
Dopey1 T A 9: 86,487,431 Y106N probably damaging Het
Dpy19l1 A T 9: 24,423,197 probably null Het
Extl3 C T 14: 65,076,912 V274I probably benign Het
Fras1 G A 5: 96,781,281 R3848H probably damaging Het
Gm11437 A C 11: 84,148,622 probably benign Het
Gss T A 2: 155,581,951 D2V probably damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Ilvbl G A 10: 78,583,905 D548N probably damaging Het
Jmjd6 A T 11: 116,842,376 D115E possibly damaging Het
Kidins220 T A 12: 25,051,133 S1110R possibly damaging Het
Kmt2c T A 5: 25,276,229 I4784F probably damaging Het
Mrpl52 T C 14: 54,427,037 V11A possibly damaging Het
Myo3b A G 2: 70,314,292 Y1036C probably damaging Het
Olfr769 T A 10: 129,112,024 M134L probably benign Het
Omp T C 7: 98,145,150 D90G probably damaging Het
Osmr T C 15: 6,824,605 I541V probably benign Het
Ppp1r32 A T 19: 10,477,523 probably null Het
Ppp2r1a A T 17: 20,961,578 probably benign Het
Ptpn13 T A 5: 103,517,571 probably null Het
Rock2 C A 12: 16,978,055 N1429K probably benign Het
Slc25a20 T G 9: 108,681,999 M188R possibly damaging Het
Slc28a1 T C 7: 81,169,068 probably benign Het
Sult2a6 T C 7: 14,254,709 Y42C probably damaging Het
Ugt2b38 A T 5: 87,411,823 N403K probably damaging Het
Vmn2r29 A G 7: 7,241,856 W340R probably benign Het
Wnt5a C T 14: 28,522,909 T351M probably damaging Het
Other mutations in Tgfb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01304:Tgfb2 APN 1 186625473 missense probably damaging 0.99
IGL03028:Tgfb2 APN 1 186630609 critical splice donor site probably null
concise UTSW 1 186625513 missense probably benign 0.21
PIT4486001:Tgfb2 UTSW 1 186690727 missense probably benign 0.04
R2017:Tgfb2 UTSW 1 186630765 nonsense probably null
R2880:Tgfb2 UTSW 1 186704555 missense probably damaging 1.00
R4182:Tgfb2 UTSW 1 186629025 missense possibly damaging 0.95
R4292:Tgfb2 UTSW 1 186632538 missense probably damaging 1.00
R4478:Tgfb2 UTSW 1 186632499 missense probably damaging 1.00
R4801:Tgfb2 UTSW 1 186628913 nonsense probably null
R4802:Tgfb2 UTSW 1 186628913 nonsense probably null
R5247:Tgfb2 UTSW 1 186649914 intron probably null
R5254:Tgfb2 UTSW 1 186704483 missense probably damaging 1.00
R5614:Tgfb2 UTSW 1 186625513 missense probably benign 0.21
R5988:Tgfb2 UTSW 1 186704581 missense probably benign 0.05
R6898:Tgfb2 UTSW 1 186632500 missense probably damaging 1.00
R6961:Tgfb2 UTSW 1 186649835 missense possibly damaging 0.67
R7098:Tgfb2 UTSW 1 186630637 missense probably damaging 1.00
R7346:Tgfb2 UTSW 1 186649880 missense probably benign 0.00
R7729:Tgfb2 UTSW 1 186630757 missense possibly damaging 0.94
Posted On2013-04-17