Incidental Mutation 'R8417:Tgfbr2'
| ID |
653004 |
| 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 |
067771-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8417 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
115916763-116004431 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 115939197 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 235
(M235K)
|
| 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: M210K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000035014
Gene: ENSMUSG00000032440
AA Change: M210K
| 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: M235K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000062333
Gene: ENSMUSG00000032440
AA Change: M235K
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AB124611 |
T |
C |
9: 21,440,381 (GRCm39) |
|
probably null |
Het |
| Adamtsl1 |
G |
A |
4: 86,074,926 (GRCm39) |
D98N |
possibly damaging |
Het |
| Adgrb3 |
T |
C |
1: 25,527,134 (GRCm39) |
T601A |
probably benign |
Het |
| Ankrd33 |
C |
A |
15: 101,017,330 (GRCm39) |
Q248K |
probably benign |
Het |
| Bsn |
G |
A |
9: 107,988,651 (GRCm39) |
A2367V |
probably benign |
Het |
| Casp12 |
G |
T |
9: 5,352,263 (GRCm39) |
C155F |
probably benign |
Het |
| Ccn6 |
T |
A |
10: 39,027,207 (GRCm39) |
R342* |
probably null |
Het |
| Clpp |
T |
C |
17: 57,297,661 (GRCm39) |
V81A |
probably benign |
Het |
| Cyp3a59 |
A |
T |
5: 146,027,495 (GRCm39) |
I89F |
possibly damaging |
Het |
| Fam227b |
C |
A |
2: 125,962,982 (GRCm39) |
W178L |
probably damaging |
Het |
| Fcna |
C |
A |
2: 25,514,863 (GRCm39) |
R332L |
probably damaging |
Het |
| Gdf3 |
T |
G |
6: 122,583,566 (GRCm39) |
H267P |
probably damaging |
Het |
| Gm5592 |
A |
G |
7: 40,937,975 (GRCm39) |
D419G |
probably benign |
Het |
| Gm6882 |
A |
G |
7: 21,161,220 (GRCm39) |
V216A |
probably damaging |
Het |
| Gsdma3 |
A |
G |
11: 98,520,603 (GRCm39) |
N78S |
probably benign |
Het |
| Hsd3b9 |
G |
A |
3: 98,363,731 (GRCm39) |
T38I |
probably benign |
Het |
| Hydin |
T |
C |
8: 111,296,024 (GRCm39) |
I3579T |
probably benign |
Het |
| Ighmbp2 |
T |
C |
19: 3,311,590 (GRCm39) |
I942V |
probably damaging |
Het |
| Lamc1 |
A |
G |
1: 153,106,515 (GRCm39) |
Y1266H |
probably damaging |
Het |
| Lgi3 |
T |
C |
14: 70,772,246 (GRCm39) |
Y264H |
probably benign |
Het |
| Lmod2 |
G |
A |
6: 24,603,384 (GRCm39) |
E120K |
possibly damaging |
Het |
| Mbl2 |
G |
T |
19: 30,216,884 (GRCm39) |
C232F |
probably damaging |
Het |
| Morc1 |
T |
C |
16: 48,281,103 (GRCm39) |
V214A |
probably damaging |
Het |
| Nlrp4b |
T |
A |
7: 10,459,880 (GRCm39) |
C827* |
probably null |
Het |
| Or12k5 |
T |
A |
2: 36,894,658 (GRCm39) |
T323S |
probably benign |
Het |
| Or5t7 |
A |
G |
2: 86,507,149 (GRCm39) |
F176S |
probably damaging |
Het |
| Pbrm1 |
T |
A |
14: 30,749,419 (GRCm39) |
H72Q |
possibly damaging |
Het |
| Plekhm2 |
T |
C |
4: 141,355,136 (GRCm39) |
I944V |
probably benign |
Het |
| Prdm8 |
A |
T |
5: 98,332,390 (GRCm39) |
D97V |
probably damaging |
Het |
| Preb |
G |
A |
5: 31,117,461 (GRCm39) |
|
probably benign |
Het |
| Prkcd |
T |
C |
14: 30,331,208 (GRCm39) |
K56E |
probably benign |
Het |
| Slit3 |
A |
T |
11: 35,501,438 (GRCm39) |
I391F |
probably damaging |
Het |
| Spata19 |
A |
G |
9: 27,309,266 (GRCm39) |
S91G |
probably benign |
Het |
| Stag3 |
A |
G |
5: 138,306,850 (GRCm39) |
T1134A |
probably benign |
Het |
| Tmtc2 |
A |
T |
10: 105,249,097 (GRCm39) |
I212N |
probably damaging |
Het |
| Tnfrsf26 |
C |
T |
7: 143,168,639 (GRCm39) |
R133K |
probably benign |
Het |
| Trim43c |
C |
A |
9: 88,725,191 (GRCm39) |
Q238K |
probably benign |
Het |
| Vcan |
T |
C |
13: 89,836,862 (GRCm39) |
D2894G |
probably benign |
Het |
| Zeb2 |
C |
T |
2: 44,913,008 (GRCm39) |
S105N |
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 |
|
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 |
|
R9288:Tgfbr2
|
UTSW |
9 |
115,939,149 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGCTCTGAGGTGTTCTGC -3'
(R):5'- CTCCAGAGCCTAATGCCTTC -3'
Sequencing Primer
(F):5'- GCTTCAGCTTGGCCTTGTAGAC -3'
(R):5'- GTCTTCTCTCCACATCAGAATACAC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation