Incidental Mutation 'R2323:Tgfbr2'
| ID |
244812 |
| 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 |
| MMRRC Submission |
040314-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2323 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
115916763-116004431 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 115939212 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 205
(K205R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035014
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035014]
[ENSMUST00000061101]
|
| AlphaFold |
Q62312 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035014
AA Change: K205R
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000035014
Gene: ENSMUSG00000032440
AA Change: K205R
| 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: K230R
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000062333
Gene: ENSMUSG00000032440
AA Change: K230R
| 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: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
G |
T |
2: 25,335,187 (GRCm39) |
M2008I |
probably benign |
Het |
| Adgrv1 |
A |
G |
13: 81,743,298 (GRCm39) |
S68P |
probably damaging |
Het |
| Albfm1 |
T |
A |
5: 90,732,711 (GRCm39) |
Y507* |
probably null |
Het |
| Anks3 |
T |
C |
16: 4,768,634 (GRCm39) |
|
probably null |
Het |
| Asap2 |
T |
C |
12: 21,253,969 (GRCm39) |
I160T |
probably damaging |
Het |
| Asb15 |
T |
A |
6: 24,556,600 (GRCm39) |
F32I |
probably benign |
Het |
| Catip |
A |
T |
1: 74,402,437 (GRCm39) |
M103L |
probably benign |
Het |
| Cela2a |
G |
C |
4: 141,553,390 (GRCm39) |
|
probably benign |
Het |
| Crebrf |
T |
C |
17: 26,982,581 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
T |
C |
5: 124,819,064 (GRCm39) |
M450T |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,267,518 (GRCm39) |
S5165P |
possibly damaging |
Het |
| Esrp2 |
T |
A |
8: 106,860,934 (GRCm39) |
D196V |
probably benign |
Het |
| Hmox2 |
A |
T |
16: 4,583,720 (GRCm39) |
K263* |
probably null |
Het |
| Ints10 |
A |
G |
8: 69,271,997 (GRCm39) |
H566R |
probably benign |
Het |
| Ints12 |
G |
A |
3: 132,815,126 (GRCm39) |
M444I |
possibly damaging |
Het |
| Liph |
A |
G |
16: 21,802,754 (GRCm39) |
V105A |
probably damaging |
Het |
| Myo1e |
T |
A |
9: 70,286,040 (GRCm39) |
Y941* |
probably null |
Het |
| Myo7b |
T |
C |
18: 32,104,398 (GRCm39) |
E1450G |
probably damaging |
Het |
| Myt1 |
G |
T |
2: 181,448,350 (GRCm39) |
A594S |
probably damaging |
Het |
| Npas3 |
T |
A |
12: 54,115,129 (GRCm39) |
Y666N |
probably damaging |
Het |
| Npsr1 |
A |
G |
9: 24,211,732 (GRCm39) |
K240E |
probably damaging |
Het |
| Or52h7 |
T |
C |
7: 104,213,826 (GRCm39) |
F133L |
probably benign |
Het |
| Rtkn2 |
A |
G |
10: 67,837,764 (GRCm39) |
I102M |
probably damaging |
Het |
| Rundc1 |
T |
C |
11: 101,316,101 (GRCm39) |
F58L |
probably damaging |
Het |
| Snrpc |
T |
G |
17: 28,066,948 (GRCm39) |
M91R |
unknown |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Tnfrsf21 |
C |
A |
17: 43,396,420 (GRCm39) |
S568* |
probably null |
Het |
| Tulp1 |
C |
T |
17: 28,581,456 (GRCm39) |
G239D |
probably damaging |
Het |
| Vmn1r234 |
T |
C |
17: 21,449,965 (GRCm39) |
I293T |
probably benign |
Het |
| Vmn1r26 |
T |
C |
6: 57,985,842 (GRCm39) |
K116E |
probably damaging |
Het |
| Vmn2r98 |
T |
A |
17: 19,286,081 (GRCm39) |
I193K |
probably benign |
Het |
| Wnk4 |
T |
A |
11: 101,159,307 (GRCm39) |
S575T |
probably damaging |
Het |
| Zfp558 |
A |
T |
9: 18,380,573 (GRCm39) |
|
probably null |
Het |
| Zscan18 |
T |
C |
7: 12,509,386 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGCTCTGAGGTGTTCTGC -3'
(R):5'- CCAGAGCCTAATGCCTTCTC -3'
Sequencing Primer
(F):5'- GCTTCAGCTTGGCCTTGTAGAC -3'
(R):5'- AGAGCCTAATGCCTTCTCTCCTTTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation