Incidental Mutation 'IGL02563:Tgfbr2'
| ID |
298749 |
| 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 # |
IGL02563
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
115916763-116004431 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 115959066 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 116
(N116I)
|
| 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: N91I
PolyPhen 2
Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000035014
Gene: ENSMUSG00000032440
AA Change: N91I
| 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: N116I
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000062333
Gene: ENSMUSG00000032440
AA Change: N116I
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930402F06Rik |
A |
T |
2: 35,270,410 (GRCm39) |
V97E |
probably damaging |
Het |
| Abhd16a |
C |
T |
17: 35,320,221 (GRCm39) |
T362M |
probably damaging |
Het |
| Adam23 |
T |
G |
1: 63,607,136 (GRCm39) |
|
probably benign |
Het |
| Apeh |
C |
A |
9: 107,970,908 (GRCm39) |
R87L |
possibly damaging |
Het |
| Arid3a |
T |
A |
10: 79,786,717 (GRCm39) |
M490K |
probably damaging |
Het |
| Atp6v1b1 |
T |
A |
6: 83,732,433 (GRCm39) |
V251D |
probably benign |
Het |
| Cog8 |
C |
T |
8: 107,783,055 (GRCm39) |
R78Q |
possibly damaging |
Het |
| Cyld |
T |
C |
8: 89,462,522 (GRCm39) |
I701T |
probably damaging |
Het |
| Dmgdh |
A |
G |
13: 93,811,047 (GRCm39) |
|
probably benign |
Het |
| Dnm1 |
T |
C |
2: 32,205,931 (GRCm39) |
|
probably null |
Het |
| Dop1b |
T |
A |
16: 93,574,293 (GRCm39) |
V2D |
probably damaging |
Het |
| Dusp22 |
A |
T |
13: 30,889,628 (GRCm39) |
S70C |
possibly damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,035,700 (GRCm39) |
Q3415R |
possibly damaging |
Het |
| Dysf |
T |
C |
6: 84,163,498 (GRCm39) |
|
probably benign |
Het |
| Fam114a1 |
G |
A |
5: 65,163,491 (GRCm39) |
|
probably null |
Het |
| Fam20a |
T |
A |
11: 109,568,620 (GRCm39) |
Q302L |
possibly damaging |
Het |
| Fancm |
T |
A |
12: 65,139,236 (GRCm39) |
L374H |
probably damaging |
Het |
| Fcgbpl1 |
G |
A |
7: 27,857,317 (GRCm39) |
E2222K |
probably benign |
Het |
| Fgf17 |
G |
A |
14: 70,874,178 (GRCm39) |
Q204* |
probably null |
Het |
| Gap43 |
T |
C |
16: 42,112,495 (GRCm39) |
T89A |
probably benign |
Het |
| Gm5069 |
A |
G |
1: 180,155,464 (GRCm39) |
|
probably benign |
Het |
| Gm9913 |
C |
T |
2: 125,348,254 (GRCm39) |
|
probably benign |
Het |
| Gpr174 |
T |
C |
X: 106,336,854 (GRCm39) |
L222P |
probably benign |
Het |
| Grid2 |
A |
T |
6: 64,322,857 (GRCm39) |
Q619L |
possibly damaging |
Het |
| Hoxc13 |
A |
G |
15: 102,830,233 (GRCm39) |
D204G |
possibly damaging |
Het |
| Itgav |
T |
C |
2: 83,601,580 (GRCm39) |
V317A |
probably benign |
Het |
| Keg1 |
A |
T |
19: 12,696,521 (GRCm39) |
N288I |
probably damaging |
Het |
| Ksr1 |
C |
T |
11: 78,935,684 (GRCm39) |
V234I |
possibly damaging |
Het |
| Lrp1 |
T |
A |
10: 127,387,555 (GRCm39) |
D3365V |
probably damaging |
Het |
| Luc7l3 |
A |
T |
11: 94,190,894 (GRCm39) |
|
probably null |
Het |
| Mta2 |
T |
C |
19: 8,925,415 (GRCm39) |
I348T |
probably benign |
Het |
| Nphp4 |
A |
G |
4: 152,640,677 (GRCm39) |
I1015V |
probably benign |
Het |
| Nup214 |
C |
T |
2: 31,867,872 (GRCm39) |
S113F |
probably damaging |
Het |
| Or4f7 |
T |
C |
2: 111,644,162 (GRCm39) |
K303R |
probably benign |
Het |
| Pabpn1l |
T |
A |
8: 123,347,122 (GRCm39) |
T228S |
probably damaging |
Het |
| Paxx |
T |
C |
2: 25,349,674 (GRCm39) |
*206W |
probably null |
Het |
| Pcdhb10 |
A |
G |
18: 37,546,126 (GRCm39) |
T401A |
probably benign |
Het |
| Ppp1r3a |
A |
C |
6: 14,719,761 (GRCm39) |
D384E |
probably benign |
Het |
| Rif1 |
T |
C |
2: 51,967,077 (GRCm39) |
V122A |
probably damaging |
Het |
| Scn4b |
T |
C |
9: 45,057,980 (GRCm39) |
L24P |
probably damaging |
Het |
| Sec22c |
T |
C |
9: 121,513,716 (GRCm39) |
|
probably benign |
Het |
| Sh3rf2 |
A |
G |
18: 42,289,207 (GRCm39) |
D676G |
probably damaging |
Het |
| Slc20a1 |
A |
G |
2: 129,049,604 (GRCm39) |
T289A |
probably benign |
Het |
| Tekt2 |
T |
C |
4: 126,218,418 (GRCm39) |
D84G |
possibly damaging |
Het |
| Tmem196 |
A |
G |
12: 119,910,209 (GRCm39) |
M1V |
probably null |
Het |
| Tnn |
A |
G |
1: 159,942,123 (GRCm39) |
V1125A |
probably damaging |
Het |
| Vmn2r51 |
A |
T |
7: 9,834,243 (GRCm39) |
M265K |
probably benign |
Het |
| Zfp319 |
T |
C |
8: 96,050,362 (GRCm39) |
|
probably benign |
Het |
| Zfp65 |
A |
T |
13: 67,856,184 (GRCm39) |
V365E |
possibly damaging |
Het |
| Zp3 |
T |
A |
5: 136,016,464 (GRCm39) |
|
probably null |
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation