Incidental Mutation 'IGL03403:Tgfbr2'
ID 421513
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 # IGL03403
Quality Score
Status
Chromosome 9
Chromosomal Location 115916763-116004431 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 115939370 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 177 (E177D)
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: E152D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000035014
Gene: ENSMUSG00000032440
AA Change: E152D

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 probably benign
Transcript: ENSMUST00000061101
AA Change: E177D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000062333
Gene: ENSMUSG00000032440
AA Change: E177D

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 T A 15: 11,241,574 (GRCm39) I382N probably damaging Het
Adamts5 T C 16: 85,659,902 (GRCm39) T797A probably damaging Het
Ahr A T 12: 35,554,325 (GRCm39) V598E possibly damaging Het
Akap10 A G 11: 61,806,099 (GRCm39) S210P probably benign Het
Asb5 G T 8: 55,036,582 (GRCm39) probably benign Het
AU041133 T C 10: 81,974,178 (GRCm39) V31A probably damaging Het
Bcar3 T C 3: 122,306,618 (GRCm39) V197A probably benign Het
Bptf A G 11: 106,990,559 (GRCm39) V510A possibly damaging Het
Ccar2 A T 14: 70,377,517 (GRCm39) D712E probably damaging Het
Cenpt G A 8: 106,576,297 (GRCm39) Q85* probably null Het
Ciita C A 16: 10,321,736 (GRCm39) H98N probably damaging Het
Cplane1 A C 15: 8,230,826 (GRCm39) K1034N probably damaging Het
Csn1s1 T A 5: 87,815,152 (GRCm39) M16K probably benign Het
Fah A G 7: 84,242,417 (GRCm39) I297T probably damaging Het
Fbxo25 A G 8: 13,979,423 (GRCm39) N214D probably benign Het
Frem3 A C 8: 81,337,719 (GRCm39) D4A probably benign Het
Gm3409 A G 5: 146,476,334 (GRCm39) K162E probably benign Het
Gxylt1 T C 15: 93,159,656 (GRCm39) D148G possibly damaging Het
Hoxd4 A T 2: 74,558,681 (GRCm39) E168V possibly damaging Het
Ifna6 A G 4: 88,745,695 (GRCm39) S15G possibly damaging Het
Iqck T A 7: 118,475,494 (GRCm39) H97Q probably benign Het
Kif16b T A 2: 142,553,789 (GRCm39) E1003V probably damaging Het
Lrp1b G A 2: 40,592,836 (GRCm39) P3761L probably benign Het
Mc4r C T 18: 66,992,597 (GRCm39) C172Y possibly damaging Het
Oosp1 T A 19: 11,664,744 (GRCm39) N104I probably damaging Het
Or2z9 A G 8: 72,854,341 (GRCm39) T246A probably benign Het
Pram1 A T 17: 33,861,117 (GRCm39) I513F probably damaging Het
Pramel18 T C 4: 101,767,125 (GRCm39) S125P probably benign Het
Rasef A G 4: 73,652,771 (GRCm39) S577P probably damaging Het
Rfx8 T C 1: 39,729,333 (GRCm39) D144G possibly damaging Het
Rreb1 A C 13: 38,113,550 (GRCm39) N303T possibly damaging Het
Rrn3 A T 16: 13,617,809 (GRCm39) K351* probably null Het
Sox30 A T 11: 45,908,035 (GRCm39) E734V probably damaging Het
Spns1 C T 7: 125,970,708 (GRCm39) probably null Het
Tnfaip8l3 A G 9: 53,934,741 (GRCm39) M78T possibly damaging Het
Vmn2r92 C T 17: 18,387,114 (GRCm39) T151I probably damaging Het
Wwc1 A G 11: 35,806,111 (GRCm39) Y41H possibly damaging Het
Zfp407 A T 18: 84,578,922 (GRCm39) N730K 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
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
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
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 2016-08-02