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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |