Incidental Mutation 'R6961:Tgfb2'
ID 541741
Institutional Source Beutler Lab
Gene Symbol Tgfb2
Ensembl Gene ENSMUSG00000039239
Gene Name transforming growth factor, beta 2
Synonyms Tgfb-2, Tgf-beta2
MMRRC Submission 045071-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6961 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 186354989-186438186 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 186382032 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 165 (M165K)
Ref Sequence ENSEMBL: ENSMUSP00000142149 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045288] [ENSMUST00000195201]
AlphaFold P27090
Predicted Effect possibly damaging
Transcript: ENSMUST00000045288
AA Change: M137K

PolyPhen 2 Score 0.563 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000043849
Gene: ENSMUSG00000039239
AA Change: M137K

DomainStartEndE-ValueType
Pfam:TGFb_propeptide 20 284 1.1e-38 PFAM
TGFB 317 414 1.25e-37 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000195201
AA Change: M165K

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000142149
Gene: ENSMUSG00000039239
AA Change: M165K

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
Meta Mutation Damage Score 0.1691 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 96.8%
Validation Efficiency 100% (51/51)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A G 5: 77,024,148 (GRCm39) L168P probably damaging Het
Atp6v0d1 A G 8: 106,255,849 (GRCm39) L173P probably damaging Het
Baiap2l2 A G 15: 79,168,835 (GRCm39) F23L probably damaging Het
Cd200l1 T A 16: 45,264,366 (GRCm39) Y64F probably benign Het
Cdh23 G C 10: 60,485,893 (GRCm39) L41V probably benign Het
Cep120 C A 18: 53,836,277 (GRCm39) E803* probably null Het
Clcn7 C T 17: 25,376,188 (GRCm39) P560S probably damaging Het
Cldn12 A T 5: 5,557,707 (GRCm39) V240D probably damaging Het
Clec1a C T 6: 129,406,946 (GRCm39) E190K probably benign Het
Cntnap5b A G 1: 100,202,197 (GRCm39) E348G probably benign Het
Crispld1 T A 1: 17,832,365 (GRCm39) H450Q probably damaging Het
Dsc2 A T 18: 20,171,279 (GRCm39) N573K probably damaging Het
Fam186a T A 15: 99,838,082 (GRCm39) I2721F probably benign Het
Fbxl13 A G 5: 21,748,740 (GRCm39) F393S probably damaging Het
Fut1 A T 7: 45,268,963 (GRCm39) I306F probably damaging Het
Gas2l3 T C 10: 89,249,153 (GRCm39) D655G probably benign Het
Gm29106 A T 1: 118,128,128 (GRCm39) K607* probably null Het
Gm57858 T A 3: 36,104,766 (GRCm39) I32F possibly damaging Het
Hmg20a T C 9: 56,396,012 (GRCm39) V268A probably benign Het
Il2rb T A 15: 78,370,024 (GRCm39) Y205F probably damaging Het
Ints4 A G 7: 97,190,397 (GRCm39) *965W probably null Het
Itsn2 T A 12: 4,723,420 (GRCm39) C1118* probably null Het
Jakmip1 T C 5: 37,330,697 (GRCm39) L459P probably damaging Het
Klhl8 T C 5: 104,018,435 (GRCm39) T323A possibly damaging Het
Mindy3 C A 2: 12,400,989 (GRCm39) probably null Het
Myo3a A G 2: 22,250,369 (GRCm39) T79A probably benign Het
Myom2 G A 8: 15,167,741 (GRCm39) A1109T probably null Het
Napa C T 7: 15,843,034 (GRCm39) R53* probably null Het
Nudt21 A C 8: 94,755,508 (GRCm39) D133E probably benign Het
Or2y3 T A 17: 38,393,096 (GRCm39) I258F probably damaging Het
Or4c115 T A 2: 88,928,149 (GRCm39) M41L probably benign Het
Or52b1 A T 7: 104,978,913 (GRCm39) I162K probably damaging Het
Or52s19 A G 7: 103,007,789 (GRCm39) V204A possibly damaging Het
Or56a41 A T 7: 104,741,978 (GRCm39) M16K probably benign Het
Or6c7 T C 10: 129,323,331 (GRCm39) F151L probably damaging Het
Pate13 G A 9: 35,819,740 (GRCm39) M1I probably null Het
Pira13 T C 7: 3,828,124 (GRCm39) Y61C probably damaging Het
Pla2g4e G T 2: 120,004,851 (GRCm39) probably null Het
Ptbp1 T C 10: 79,695,111 (GRCm39) probably null Het
Scfd2 A C 5: 74,680,202 (GRCm39) V317G possibly damaging Het
Slc45a1 T C 4: 150,714,110 (GRCm39) M712V probably damaging Het
Smg7 A T 1: 152,717,334 (GRCm39) L919* probably null Het
Sspo T A 6: 48,440,811 (GRCm39) S1758T probably benign Het
Tie1 C T 4: 118,343,402 (GRCm39) V154M probably damaging Het
Timm17a A G 1: 135,238,816 (GRCm39) probably benign Het
Tlr5 C T 1: 182,801,076 (GRCm39) R127* probably null Het
Ttc29 A C 8: 79,003,545 (GRCm39) I254L possibly damaging Het
Unc79 T C 12: 103,079,174 (GRCm39) S1780P probably damaging Het
Vmn2r106 A T 17: 20,488,646 (GRCm39) Y584* probably null Het
Zbtb24 A G 10: 41,331,171 (GRCm39) E366G probably 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
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
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'- TATGTCTCTGCCTTGCCGAG -3'
(R):5'- TTGGAAACCAAACTCTGTAGCC -3'

Sequencing Primer
(F):5'- CCGTTTCGGTGAGAGTAACAAC -3'
(R):5'- TGGAAACCAAACTCTGTAGCCATTTC -3'
Posted On 2018-11-28