Incidental Mutation 'IGL01010:Tgfbr2'
ID 53751
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 # IGL01010
Quality Score
Status
Chromosome 9
Chromosomal Location 115916763-116004431 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 115959048 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 122 (L122Q)
Ref Sequence ENSEMBL: ENSMUSP00000062333 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035014] [ENSMUST00000061101]
AlphaFold Q62312
Predicted Effect possibly damaging
Transcript: ENSMUST00000035014
AA Change: L97Q

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000035014
Gene: ENSMUSG00000032440
AA Change: L97Q

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000061101
AA Change: L122Q

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000062333
Gene: ENSMUSG00000032440
AA Change: L122Q

DomainStartEndE-ValueType
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik C A 8: 73,199,059 (GRCm39) S155R probably damaging Het
Acss3 G T 10: 106,859,710 (GRCm39) probably benign Het
Ano4 G A 10: 88,796,462 (GRCm39) T680I probably benign Het
Drosha C T 15: 12,827,375 (GRCm39) probably benign Het
Ehd3 A G 17: 74,134,484 (GRCm39) D281G probably damaging Het
Exoc5 A G 14: 49,275,212 (GRCm39) L196P probably damaging Het
Gal3st1 T C 11: 3,946,914 (GRCm39) probably benign Het
Gart G A 16: 91,439,980 (GRCm39) R4* probably null Het
Gm21738 T A 14: 19,417,361 (GRCm38) T56S probably benign Het
Gm3573 T A 14: 42,009,523 (GRCm39) I141L probably benign Het
Gpr6 A G 10: 40,947,147 (GRCm39) M145T probably benign Het
Kcns3 T C 12: 11,142,427 (GRCm39) M91V probably benign Het
Mtarc2 T G 1: 184,551,513 (GRCm39) I308L probably benign Het
Mto1 A G 9: 78,368,925 (GRCm39) K529R probably benign Het
Naip2 A T 13: 100,291,446 (GRCm39) V1164D probably damaging Het
Or2ag13 T C 7: 106,473,460 (GRCm39) probably benign Het
Or8k21 A T 2: 86,145,288 (GRCm39) I114N probably damaging Het
Plekha1 T C 7: 130,503,984 (GRCm39) probably benign Het
Psg26 T C 7: 18,212,255 (GRCm39) S367G possibly damaging Het
Rps6kb1 T C 11: 86,393,592 (GRCm39) M513V probably benign Het
Slitrk3 C T 3: 72,956,606 (GRCm39) G722D probably benign Het
Stag1 A G 9: 100,827,986 (GRCm39) E1005G probably benign Het
Traf2 G A 2: 25,410,450 (GRCm39) R400* probably null Het
Trim33 C T 3: 103,254,031 (GRCm39) Q153* probably null Het
Zmynd15 T C 11: 70,356,742 (GRCm39) Y551H probably damaging Het
Znrd2 A G 19: 5,781,293 (GRCm39) S78P probably 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
IGL01656:Tgfbr2 APN 9 115,938,737 (GRCm39) missense probably damaging 1.00
IGL02496:Tgfbr2 APN 9 115,919,486 (GRCm39) missense probably benign 0.13
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 2013-06-28