Incidental Mutation 'R2378:Tgfbr2'
| ID |
248355 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R2378 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
115916763-116004431 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 115959018 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 132
(T132I)
|
| 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: T107I
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000035014
Gene: ENSMUSG00000032440
AA Change: T107I
| 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 |
probably benign
Transcript: ENSMUST00000061101
AA Change: T132I
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000062333
Gene: ENSMUSG00000032440
AA Change: T132I
| 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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.1%
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AK157302 |
T |
C |
13: 21,679,732 (GRCm39) |
I86T |
possibly damaging |
Het |
| Akr1cl |
A |
T |
1: 65,061,147 (GRCm39) |
M124K |
probably benign |
Het |
| Asap2 |
T |
C |
12: 21,304,319 (GRCm39) |
L745P |
possibly damaging |
Het |
| B3gnt9 |
G |
A |
8: 105,981,116 (GRCm39) |
R91C |
probably damaging |
Het |
| Capg |
C |
T |
6: 72,532,474 (GRCm39) |
P13L |
probably benign |
Het |
| Eif3c |
C |
T |
7: 126,151,497 (GRCm39) |
R609H |
probably damaging |
Het |
| Ephb3 |
A |
G |
16: 21,036,993 (GRCm39) |
H152R |
probably benign |
Het |
| Gbp9 |
T |
C |
5: 105,228,042 (GRCm39) |
D580G |
probably benign |
Het |
| Iars2 |
A |
G |
1: 185,059,918 (GRCm39) |
Y97H |
probably damaging |
Het |
| Ip6k2 |
A |
G |
9: 108,673,500 (GRCm39) |
|
probably null |
Het |
| Itih2 |
T |
A |
2: 10,099,698 (GRCm39) |
D907V |
probably damaging |
Het |
| Lrrc37 |
A |
G |
11: 103,510,537 (GRCm39) |
|
probably benign |
Het |
| Msh4 |
A |
G |
3: 153,569,114 (GRCm39) |
C732R |
probably damaging |
Het |
| Mtss2 |
T |
C |
8: 111,464,981 (GRCm39) |
F474L |
probably damaging |
Het |
| Nbeal2 |
T |
C |
9: 110,459,876 (GRCm39) |
E1175G |
probably damaging |
Het |
| Pgm3 |
A |
T |
9: 86,444,720 (GRCm39) |
C272S |
probably damaging |
Het |
| R3hcc1l |
T |
A |
19: 42,551,912 (GRCm39) |
I303N |
probably damaging |
Het |
| Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
| Spsb3 |
A |
G |
17: 25,105,924 (GRCm39) |
|
probably benign |
Het |
| Tpp2 |
A |
T |
1: 44,038,925 (GRCm39) |
E223V |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,719,794 (GRCm39) |
|
probably benign |
Het |
| Vmn2r102 |
T |
G |
17: 19,914,930 (GRCm39) |
L832V |
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 |
|
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATTGCTTGTCAGGGCCAG -3'
(R):5'- TGCAGGAGAGTTTGGGACAC -3'
Sequencing Primer
(F):5'- TTGTCAGGGCCAGGTACCAAG -3'
(R):5'- CAGGAGAGTTTGGGACACTCAAG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation