Incidental Mutation 'IGL03403:Tgfbr2'
ID |
421513 |
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 # |
IGL03403
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
115916763-116004431 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 115939370 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 177
(E177D)
|
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: E152D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000035014 Gene: ENSMUSG00000032440 AA Change: E152D
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: E177D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000062333 Gene: ENSMUSG00000032440 AA Change: E177D
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts12 |
T |
A |
15: 11,241,574 (GRCm39) |
I382N |
probably damaging |
Het |
Adamts5 |
T |
C |
16: 85,659,902 (GRCm39) |
T797A |
probably damaging |
Het |
Ahr |
A |
T |
12: 35,554,325 (GRCm39) |
V598E |
possibly damaging |
Het |
Akap10 |
A |
G |
11: 61,806,099 (GRCm39) |
S210P |
probably benign |
Het |
Asb5 |
G |
T |
8: 55,036,582 (GRCm39) |
|
probably benign |
Het |
AU041133 |
T |
C |
10: 81,974,178 (GRCm39) |
V31A |
probably damaging |
Het |
Bcar3 |
T |
C |
3: 122,306,618 (GRCm39) |
V197A |
probably benign |
Het |
Bptf |
A |
G |
11: 106,990,559 (GRCm39) |
V510A |
possibly damaging |
Het |
Ccar2 |
A |
T |
14: 70,377,517 (GRCm39) |
D712E |
probably damaging |
Het |
Cenpt |
G |
A |
8: 106,576,297 (GRCm39) |
Q85* |
probably null |
Het |
Ciita |
C |
A |
16: 10,321,736 (GRCm39) |
H98N |
probably damaging |
Het |
Cplane1 |
A |
C |
15: 8,230,826 (GRCm39) |
K1034N |
probably damaging |
Het |
Csn1s1 |
T |
A |
5: 87,815,152 (GRCm39) |
M16K |
probably benign |
Het |
Fah |
A |
G |
7: 84,242,417 (GRCm39) |
I297T |
probably damaging |
Het |
Fbxo25 |
A |
G |
8: 13,979,423 (GRCm39) |
N214D |
probably benign |
Het |
Frem3 |
A |
C |
8: 81,337,719 (GRCm39) |
D4A |
probably benign |
Het |
Gm3409 |
A |
G |
5: 146,476,334 (GRCm39) |
K162E |
probably benign |
Het |
Gxylt1 |
T |
C |
15: 93,159,656 (GRCm39) |
D148G |
possibly damaging |
Het |
Hoxd4 |
A |
T |
2: 74,558,681 (GRCm39) |
E168V |
possibly damaging |
Het |
Ifna6 |
A |
G |
4: 88,745,695 (GRCm39) |
S15G |
possibly damaging |
Het |
Iqck |
T |
A |
7: 118,475,494 (GRCm39) |
H97Q |
probably benign |
Het |
Kif16b |
T |
A |
2: 142,553,789 (GRCm39) |
E1003V |
probably damaging |
Het |
Lrp1b |
G |
A |
2: 40,592,836 (GRCm39) |
P3761L |
probably benign |
Het |
Mc4r |
C |
T |
18: 66,992,597 (GRCm39) |
C172Y |
possibly damaging |
Het |
Oosp1 |
T |
A |
19: 11,664,744 (GRCm39) |
N104I |
probably damaging |
Het |
Or2z9 |
A |
G |
8: 72,854,341 (GRCm39) |
T246A |
probably benign |
Het |
Pram1 |
A |
T |
17: 33,861,117 (GRCm39) |
I513F |
probably damaging |
Het |
Pramel18 |
T |
C |
4: 101,767,125 (GRCm39) |
S125P |
probably benign |
Het |
Rasef |
A |
G |
4: 73,652,771 (GRCm39) |
S577P |
probably damaging |
Het |
Rfx8 |
T |
C |
1: 39,729,333 (GRCm39) |
D144G |
possibly damaging |
Het |
Rreb1 |
A |
C |
13: 38,113,550 (GRCm39) |
N303T |
possibly damaging |
Het |
Rrn3 |
A |
T |
16: 13,617,809 (GRCm39) |
K351* |
probably null |
Het |
Sox30 |
A |
T |
11: 45,908,035 (GRCm39) |
E734V |
probably damaging |
Het |
Spns1 |
C |
T |
7: 125,970,708 (GRCm39) |
|
probably null |
Het |
Tnfaip8l3 |
A |
G |
9: 53,934,741 (GRCm39) |
M78T |
possibly damaging |
Het |
Vmn2r92 |
C |
T |
17: 18,387,114 (GRCm39) |
T151I |
probably damaging |
Het |
Wwc1 |
A |
G |
11: 35,806,111 (GRCm39) |
Y41H |
possibly damaging |
Het |
Zfp407 |
A |
T |
18: 84,578,922 (GRCm39) |
N730K |
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 |
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 |
2016-08-02 |