Incidental Mutation 'PIT4486001:Tgfb2'
ID 556086
Institutional Source Beutler Lab
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 # PIT4486001 (G1)
Quality Score 129.008
Status Not validated
Chromosome 1
Chromosomal Location 186354989-186438186 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 186422924 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 142 (Y142N)
Ref Sequence ENSEMBL: ENSMUSP00000142149 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045288] [ENSMUST00000195201]
AlphaFold P27090
Predicted Effect probably benign
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 probably benign
Transcript: ENSMUST00000195201
AA Change: Y142N

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000142149
Gene: ENSMUSG00000039239
AA Change: Y142N

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
  • 1x: 93.0%
  • 3x: 90.5%
  • 10x: 84.1%
  • 20x: 70.1%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik T C 5: 144,980,914 (GRCm39) S108P probably damaging Het
Abhd16b A T 2: 181,135,752 (GRCm39) Q218L probably benign Het
Abhd3 T A 18: 10,645,233 (GRCm39) I354F probably benign Het
Abt1 T C 13: 23,607,851 (GRCm39) Y51C possibly damaging Het
Actl9 T A 17: 33,653,172 (GRCm39) Y411N possibly damaging Het
Ano4 A G 10: 88,828,891 (GRCm39) V516A probably damaging Het
Bptf A T 11: 106,945,614 (GRCm39) S2542T probably damaging Het
Card11 C T 5: 140,862,163 (GRCm39) V1045M probably damaging Het
Ccdc121 T A 5: 31,645,087 (GRCm39) I280K probably damaging Het
Cd300ld2 CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG 11: 114,903,257 (GRCm39) probably benign Het
Cdh3 A G 8: 107,268,122 (GRCm39) K386E possibly damaging Het
Cks1b C A 3: 89,323,621 (GRCm39) Q49H probably damaging Het
Clpb A T 7: 101,313,139 (GRCm39) D41V probably benign Het
Cyp3a11 A T 5: 145,797,302 (GRCm39) M359K probably damaging Het
Cyp3a13 A T 5: 137,908,228 (GRCm39) I207N probably benign Het
Dennd4c T A 4: 86,717,701 (GRCm39) L566* probably null Het
Dhtkd1 A T 2: 5,904,806 (GRCm39) D859E probably benign Het
Efcab6 T C 15: 83,857,514 (GRCm39) D295G probably benign Het
Fcgbp A G 7: 27,774,698 (GRCm39) T91A possibly damaging Het
Gm11569 GCAGCTGGGCCTGCAGCAGCTGGAAATGCAGCAGCTAGGACGGCAACA GCA 11: 99,689,491 (GRCm39) probably benign Het
Gsdma3 A G 11: 98,528,880 (GRCm39) K454E unknown Het
Herc1 T A 9: 66,279,671 (GRCm39) I193N probably damaging Het
Kdm5b T A 1: 134,556,423 (GRCm39) L1370Q probably damaging Het
Lrrc37 A T 11: 103,509,027 (GRCm39) H980Q unknown Het
Map4 T G 9: 109,901,682 (GRCm39) V965G probably damaging Het
Mkrn2os T C 6: 115,562,444 (GRCm39) D173G probably benign Het
Ndfip2 A G 14: 105,532,300 (GRCm39) D232G probably damaging Het
Nipal2 C T 15: 34,584,875 (GRCm39) G231D probably damaging Het
Notch3 A T 17: 32,373,737 (GRCm39) N490K probably damaging Het
Or5p68 A G 7: 107,945,529 (GRCm39) S220P possibly damaging Het
Or8g50 T A 9: 39,648,535 (GRCm39) C141* probably null Het
Prkar2a T C 9: 108,610,326 (GRCm39) L185S probably damaging Het
Ptpn9 T G 9: 56,968,287 (GRCm39) N542K probably damaging Het
Pus10 G A 11: 23,662,326 (GRCm39) probably null Het
Pyroxd2 A G 19: 42,728,828 (GRCm39) S191P probably benign Het
Rab15 T A 12: 76,848,716 (GRCm39) K122* probably null Het
Rara A G 11: 98,864,321 (GRCm39) N416S possibly damaging Het
Rims2 T C 15: 39,339,916 (GRCm39) V870A possibly damaging Het
Sec16a T C 2: 26,315,785 (GRCm39) T293A Het
Slc26a3 G A 12: 31,520,949 (GRCm39) D718N probably benign Het
Slc44a5 G A 3: 153,964,659 (GRCm39) V520I possibly damaging Het
Spata31e2 G A 1: 26,724,410 (GRCm39) P257S probably damaging Het
Tgfbi A T 13: 56,777,607 (GRCm39) I364F probably damaging Het
Tmem144 A C 3: 79,734,174 (GRCm39) D176E probably benign Het
Tns4 A T 11: 98,962,161 (GRCm39) L612Q probably damaging Het
Toe1 A G 4: 116,663,692 (GRCm39) L76S probably damaging Het
Trank1 T C 9: 111,219,175 (GRCm39) F1971L probably damaging Het
Tsen54 G T 11: 115,713,422 (GRCm39) V481F probably damaging Het
Uimc1 A G 13: 55,223,381 (GRCm39) L297P probably damaging Het
Wnt8a T C 18: 34,680,636 (GRCm39) Y334H probably damaging Het
Zfp281 A G 1: 136,554,741 (GRCm39) D573G 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
IGL03028:Tgfb2 APN 1 186,362,806 (GRCm39) critical splice donor site probably null
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
Predicted Primers PCR Primer
(F):5'- TTCTTGCACATGAGGCAGC -3'
(R):5'- AGCCAGCAAGTCCCTTTTC -3'

Sequencing Primer
(F):5'- GCGTGTCACTTCAAAGCTAG -3'
(R):5'- AGCAAGTCCCTTTTCTACTTGGAATC -3'
Posted On 2019-06-07