Incidental Mutation 'IGL02496:Tgfbr2'
ID 295852
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tgfbr2
Ensembl Gene ENSMUSG00000032440
Gene Name transforming growth factor, beta receptor II
Synonyms TbetaRII, TBR-II, TbetaR-II, 1110020H15Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02496
Quality Score
Chromosome 9
Chromosomal Location 115916763-116004431 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115919486 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 580 (E580G)
Ref Sequence ENSEMBL: ENSMUSP00000062333 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035014] [ENSMUST00000061101]
AlphaFold Q62312
Predicted Effect probably benign
Transcript: ENSMUST00000035014
AA Change: E555G

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000035014
Gene: ENSMUSG00000032440
AA Change: E555G

signal peptide 1 23 N/A INTRINSIC
Pfam:ecTbetaR2 47 165 1.8e-55 PFAM
Pfam:Pkinase 244 538 9.9e-52 PFAM
Pfam:Pkinase_Tyr 244 538 2.9e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000061101
AA Change: E580G

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000062333
Gene: ENSMUSG00000032440
AA Change: E580G

signal peptide 1 23 N/A INTRINSIC
Pfam:ecTbetaR2 74 184 4.6e-45 PFAM
transmembrane domain 189 211 N/A INTRINSIC
Pfam:Pkinase 269 563 2.7e-36 PFAM
Pfam:Pkinase_Tyr 269 563 5e-37 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Ser/Thr protein kinase family and the TGFB receptor subfamily. The encoded protein is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with another receptor protein, and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of a subset of genes related to cell proliferation. Mutations in this gene have been associated with Marfan Syndrome, Loeys-Deitz Aortic Aneurysm Syndrome, and the development of various types of tumors. Alternatively spliced transcript variants encoding different isoforms have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations die in midgestation with impaired yolk sac hematopoiesis and vasculogenesis. Selective knockouts in bone marrow cells and cranial neural crest show inflammation and cleft palate/calvarial defects, respectively. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T G 1: 71,327,712 (GRCm39) H1456P possibly damaging Het
Abcg1 C A 17: 31,324,578 (GRCm39) H274Q probably damaging Het
Adamts4 G A 1: 171,078,512 (GRCm39) R44Q probably benign Het
Amigo2 A T 15: 97,143,494 (GRCm39) C309* probably null Het
Ccdc88c A C 12: 100,919,552 (GRCm39) S446A probably benign Het
Cd9 A T 6: 125,449,458 (GRCm39) V28E probably damaging Het
Cops2 A T 2: 125,678,163 (GRCm39) probably benign Het
Csn1s1 C T 5: 87,825,453 (GRCm39) probably benign Het
Cul9 G T 17: 46,851,302 (GRCm39) R373S possibly damaging Het
D630045J12Rik G T 6: 38,126,640 (GRCm39) H1457N probably damaging Het
Dennd2b C A 7: 109,155,442 (GRCm39) R436L possibly damaging Het
Dnah9 A G 11: 65,920,189 (GRCm39) S2235P probably damaging Het
Efr3b C T 12: 4,033,391 (GRCm39) V139I probably benign Het
Fbxo10 A T 4: 45,043,883 (GRCm39) W647R probably damaging Het
Flnb T A 14: 7,930,919 (GRCm38) probably benign Het
Flnc G T 6: 29,440,684 (GRCm39) V301L probably damaging Het
Hfm1 T C 5: 107,049,627 (GRCm39) S445G probably benign Het
Hif3a A G 7: 16,773,603 (GRCm39) probably benign Het
Hsd17b4 T C 18: 50,288,220 (GRCm39) Y217H probably damaging Het
Iba57 T C 11: 59,049,772 (GRCm39) T192A probably benign Het
Igkv5-48 A T 6: 69,703,671 (GRCm39) I78N probably damaging Het
Inhbe A T 10: 127,186,797 (GRCm39) W128R probably damaging Het
Ism1 T C 2: 139,599,121 (GRCm39) C365R probably damaging Het
Kif19a A T 11: 114,670,470 (GRCm39) T127S probably damaging Het
Kmt2d C A 15: 98,755,439 (GRCm39) probably benign Het
Mmp20 A G 9: 7,654,042 (GRCm39) R321G probably damaging Het
Msl2 T C 9: 100,977,854 (GRCm39) M76T possibly damaging Het
Nme9 T C 9: 99,351,684 (GRCm39) C223R probably damaging Het
Nucb1 G T 7: 45,144,467 (GRCm39) probably benign Het
Ocrl G A X: 47,022,315 (GRCm39) D262N probably benign Het
Or13a18 A C 7: 140,190,081 (GRCm39) M1L probably benign Het
Or5b98 T A 19: 12,931,556 (GRCm39) I201N possibly damaging Het
Or6b1 A C 6: 42,815,738 (GRCm39) I308L probably benign Het
P4ha1 A G 10: 59,206,824 (GRCm39) probably null Het
Parp8 T C 13: 116,998,838 (GRCm39) probably benign Het
Pcdhb6 A G 18: 37,468,507 (GRCm39) D476G probably damaging Het
Pikfyve A G 1: 65,303,535 (GRCm39) E1685G possibly damaging Het
Plod2 T A 9: 92,489,147 (GRCm39) L714Q probably damaging Het
Plscr2 A G 9: 92,171,716 (GRCm39) I103V probably benign Het
Plscr3 C A 11: 69,738,209 (GRCm39) probably benign Het
Pmaip1 A G 18: 66,596,370 (GRCm39) R80G probably damaging Het
Ppm1d C T 11: 85,230,492 (GRCm39) P370L possibly damaging Het
Prr36 C A 8: 4,266,407 (GRCm39) E48* probably null Het
Ptgir G A 7: 16,641,409 (GRCm39) V234I possibly damaging Het
Ptk7 A T 17: 46,901,070 (GRCm39) V219E probably benign Het
Rab39b T A X: 74,618,609 (GRCm39) I74F probably damaging Het
Rasal2 A T 1: 156,977,449 (GRCm39) M1075K possibly damaging Het
Rpl37a G A 1: 72,750,885 (GRCm39) A20T probably null Het
Serpinb10 A C 1: 107,466,155 (GRCm39) probably null Het
Sipa1l1 T A 12: 82,471,868 (GRCm39) Y1283N probably damaging Het
Slc22a23 T A 13: 34,528,468 (GRCm39) I105F possibly damaging Het
Slc25a20 T A 9: 108,559,599 (GRCm39) I221N probably damaging Het
Smarcal1 A T 1: 72,659,247 (GRCm39) H691L probably damaging Het
Smo A C 6: 29,758,480 (GRCm39) T542P probably damaging Het
Spats2 T A 15: 99,071,329 (GRCm39) I51N probably damaging Het
Spon1 G T 7: 113,635,897 (GRCm39) V704L probably benign Het
Tex9 T A 9: 72,389,774 (GRCm39) Q112L probably benign Het
Top2b T A 14: 16,387,335 (GRCm38) V141E probably benign Het
Trhde A T 10: 114,636,466 (GRCm39) L247* probably null Het
Umodl1 G T 17: 31,217,628 (GRCm39) V1145F probably damaging Het
Vasp C A 7: 18,992,748 (GRCm39) probably benign Het
Vmn1r8 G T 6: 57,013,556 (GRCm39) L202F probably damaging Het
Vmn2r111 T C 17: 22,787,837 (GRCm39) T505A probably benign Het
Wdr27 A G 17: 15,112,693 (GRCm39) probably benign Het
Wfdc1 T G 8: 120,406,909 (GRCm39) V109G probably damaging Het
Zan C A 5: 137,463,056 (GRCm39) E708* probably null Het
Zbtb1 T A 12: 76,432,169 (GRCm39) F52I possibly damaging Het
Zfp236 A G 18: 82,648,117 (GRCm39) S1015P probably damaging Het
Zfp532 T C 18: 65,757,113 (GRCm39) S349P probably damaging Het
Znfx1 A T 2: 166,889,550 (GRCm39) C731S possibly damaging Het
Other mutations in Tgfbr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Tgfbr2 APN 9 115,939,257 (GRCm39) missense probably damaging 0.99
IGL00484:Tgfbr2 APN 9 115,987,357 (GRCm39) missense probably benign 0.00
IGL01010:Tgfbr2 APN 9 115,959,048 (GRCm39) missense possibly damaging 0.80
IGL01656:Tgfbr2 APN 9 115,938,737 (GRCm39) missense probably damaging 1.00
IGL02550:Tgfbr2 APN 9 115,939,197 (GRCm39) missense probably benign
IGL02563:Tgfbr2 APN 9 115,959,066 (GRCm39) missense probably benign 0.10
IGL03403:Tgfbr2 APN 9 115,939,370 (GRCm39) missense probably benign
Balm UTSW 9 115,958,898 (GRCm39) missense probably damaging 0.98
emollient UTSW 9 115,939,323 (GRCm39) missense possibly damaging 0.64
IGL02799:Tgfbr2 UTSW 9 115,939,204 (GRCm39) missense possibly damaging 0.50
R0617:Tgfbr2 UTSW 9 115,987,388 (GRCm39) missense probably benign 0.00
R1483:Tgfbr2 UTSW 9 115,938,625 (GRCm39) missense probably benign 0.04
R1776:Tgfbr2 UTSW 9 116,004,035 (GRCm39) missense possibly damaging 0.94
R1777:Tgfbr2 UTSW 9 115,938,948 (GRCm39) missense probably damaging 0.99
R1831:Tgfbr2 UTSW 9 115,919,604 (GRCm39) missense possibly damaging 0.74
R2323:Tgfbr2 UTSW 9 115,939,212 (GRCm39) missense possibly damaging 0.90
R2378:Tgfbr2 UTSW 9 115,959,018 (GRCm39) missense probably benign 0.02
R3123:Tgfbr2 UTSW 9 115,939,137 (GRCm39) missense possibly damaging 0.95
R3418:Tgfbr2 UTSW 9 115,958,901 (GRCm39) missense probably damaging 1.00
R3605:Tgfbr2 UTSW 9 115,938,960 (GRCm39) missense probably benign 0.03
R4039:Tgfbr2 UTSW 9 116,004,105 (GRCm39) start codon destroyed probably null 0.62
R4191:Tgfbr2 UTSW 9 115,939,009 (GRCm39) missense probably damaging 1.00
R4193:Tgfbr2 UTSW 9 115,939,009 (GRCm39) missense probably damaging 1.00
R4945:Tgfbr2 UTSW 9 115,960,633 (GRCm39) missense probably benign
R5431:Tgfbr2 UTSW 9 115,960,669 (GRCm39) missense probably damaging 0.99
R5714:Tgfbr2 UTSW 9 116,004,092 (GRCm39) missense probably damaging 0.98
R5964:Tgfbr2 UTSW 9 115,939,323 (GRCm39) missense possibly damaging 0.64
R6180:Tgfbr2 UTSW 9 115,939,212 (GRCm39) missense possibly damaging 0.90
R6970:Tgfbr2 UTSW 9 115,939,119 (GRCm39) missense probably damaging 0.97
R7228:Tgfbr2 UTSW 9 115,939,011 (GRCm39) missense probably damaging 1.00
R7258:Tgfbr2 UTSW 9 115,958,898 (GRCm39) missense probably damaging 0.98
R7315:Tgfbr2 UTSW 9 115,938,806 (GRCm39) missense possibly damaging 0.49
R8171:Tgfbr2 UTSW 9 115,959,074 (GRCm39) nonsense probably null
R8175:Tgfbr2 UTSW 9 115,939,023 (GRCm39) missense possibly damaging 0.92
R8417:Tgfbr2 UTSW 9 115,939,197 (GRCm39) missense probably benign
R9288:Tgfbr2 UTSW 9 115,939,149 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16