Incidental Mutation 'R3418:Tgfbr2'
ID |
266909 |
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 |
040636-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3418 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
115916763-116004431 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 115958901 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 146
(Y146C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035014
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035014]
[ENSMUST00000061101]
|
AlphaFold |
Q62312 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000035014
AA Change: Y146C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000035014 Gene: ENSMUSG00000032440 AA Change: Y146C
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: Y171C
PolyPhen 2
Score 0.728 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000062333 Gene: ENSMUSG00000032440 AA Change: Y171C
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 |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
Validation Efficiency |
98% (61/62) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5530400C23Rik |
A |
G |
6: 133,271,082 (GRCm39) |
Q42R |
probably benign |
Het |
Acaa1a |
A |
G |
9: 119,178,556 (GRCm39) |
|
probably null |
Het |
Agbl5 |
T |
C |
5: 31,062,067 (GRCm39) |
S756P |
probably damaging |
Het |
Armc9 |
T |
C |
1: 86,122,060 (GRCm39) |
L395P |
probably damaging |
Het |
Cdc16 |
C |
T |
8: 13,819,489 (GRCm39) |
Q362* |
probably null |
Het |
Cdh5 |
C |
T |
8: 104,856,002 (GRCm39) |
R312C |
probably damaging |
Het |
Cep170b |
C |
T |
12: 112,704,902 (GRCm39) |
Q887* |
probably null |
Het |
Chd9 |
T |
C |
8: 91,763,219 (GRCm39) |
I2348T |
probably damaging |
Het |
Clec9a |
A |
G |
6: 129,398,001 (GRCm39) |
|
probably benign |
Het |
Col6a3 |
T |
C |
1: 90,731,813 (GRCm39) |
D873G |
probably benign |
Het |
D130040H23Rik |
T |
C |
8: 69,755,579 (GRCm39) |
I328T |
probably benign |
Het |
Dido1 |
G |
T |
2: 180,302,728 (GRCm39) |
D1725E |
possibly damaging |
Het |
Dnajb14 |
A |
G |
3: 137,598,631 (GRCm39) |
D123G |
probably null |
Het |
Dock2 |
A |
T |
11: 34,580,587 (GRCm39) |
M661K |
probably damaging |
Het |
Esam |
C |
T |
9: 37,448,426 (GRCm39) |
|
probably null |
Het |
Fam20c |
A |
T |
5: 138,743,623 (GRCm39) |
N220Y |
probably damaging |
Het |
Fat2 |
G |
T |
11: 55,169,824 (GRCm39) |
H2978Q |
probably benign |
Het |
Fbn1 |
T |
C |
2: 125,162,846 (GRCm39) |
T2147A |
possibly damaging |
Het |
Fdft1 |
T |
C |
14: 63,394,070 (GRCm39) |
T214A |
probably damaging |
Het |
Fhl5 |
T |
C |
4: 25,211,252 (GRCm39) |
S147G |
probably benign |
Het |
Flrt2 |
A |
G |
12: 95,747,378 (GRCm39) |
Y572C |
probably damaging |
Het |
Gcat |
A |
T |
15: 78,926,297 (GRCm39) |
T56S |
possibly damaging |
Het |
Gemin5 |
A |
T |
11: 58,047,454 (GRCm39) |
|
probably null |
Het |
Gm4736 |
A |
T |
6: 132,092,640 (GRCm39) |
|
noncoding transcript |
Het |
Grin2b |
T |
C |
6: 135,820,108 (GRCm39) |
N368S |
probably benign |
Het |
Gsto1 |
T |
C |
19: 47,846,344 (GRCm39) |
F64L |
probably benign |
Het |
Gucy1a1 |
A |
G |
3: 82,013,440 (GRCm39) |
S401P |
probably damaging |
Het |
Htr1f |
G |
A |
16: 64,746,260 (GRCm39) |
P344L |
probably damaging |
Het |
Ighv7-3 |
T |
A |
12: 114,116,919 (GRCm39) |
Y81F |
probably damaging |
Het |
Jakmip3 |
C |
A |
7: 138,619,474 (GRCm39) |
|
probably benign |
Het |
Kcnj13 |
T |
C |
1: 87,314,641 (GRCm39) |
T194A |
probably benign |
Het |
Khdrbs3 |
T |
C |
15: 68,921,224 (GRCm39) |
|
probably benign |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Lyn |
A |
T |
4: 3,746,833 (GRCm39) |
I204F |
probably damaging |
Het |
Mbd6 |
C |
G |
10: 127,122,372 (GRCm39) |
R152P |
probably null |
Het |
Myof |
A |
G |
19: 37,911,426 (GRCm39) |
S1502P |
probably damaging |
Het |
Myom2 |
T |
G |
8: 15,135,294 (GRCm39) |
I499S |
probably benign |
Het |
Nos2 |
T |
A |
11: 78,850,521 (GRCm39) |
F1126L |
possibly damaging |
Het |
Or3a4 |
G |
A |
11: 73,944,814 (GRCm39) |
T257I |
probably damaging |
Het |
P2ry1 |
T |
C |
3: 60,911,133 (GRCm39) |
F91L |
probably damaging |
Het |
Pcdh15 |
C |
A |
10: 74,420,054 (GRCm39) |
D1166E |
probably benign |
Het |
Pou6f1 |
C |
A |
15: 100,478,805 (GRCm39) |
V368L |
probably benign |
Het |
Ptcd3 |
A |
T |
6: 71,860,470 (GRCm39) |
I579K |
possibly damaging |
Het |
Rbm45 |
A |
G |
2: 76,209,362 (GRCm39) |
E392G |
probably damaging |
Het |
Rnf168 |
A |
G |
16: 32,118,010 (GRCm39) |
N524D |
probably benign |
Het |
Rnf222 |
G |
T |
11: 68,783,982 (GRCm39) |
R183L |
probably damaging |
Het |
Robo1 |
C |
T |
16: 72,832,805 (GRCm39) |
T1526I |
probably benign |
Het |
Sel1l |
A |
G |
12: 91,776,776 (GRCm39) |
W689R |
probably damaging |
Het |
Serpinb13 |
T |
C |
1: 106,926,657 (GRCm39) |
S218P |
probably damaging |
Het |
Serpini1 |
A |
G |
3: 75,547,589 (GRCm39) |
Y367C |
probably damaging |
Het |
Slc13a2 |
A |
G |
11: 78,291,666 (GRCm39) |
F329S |
probably benign |
Het |
Smc2 |
T |
C |
4: 52,476,850 (GRCm39) |
|
probably benign |
Het |
Sycp2 |
A |
T |
2: 178,043,446 (GRCm39) |
|
probably benign |
Het |
Tab2 |
G |
A |
10: 7,783,245 (GRCm39) |
P679L |
probably damaging |
Het |
Tdrd1 |
T |
A |
19: 56,819,663 (GRCm39) |
N54K |
possibly damaging |
Het |
Tnfrsf11a |
A |
G |
1: 105,737,130 (GRCm39) |
D79G |
possibly damaging |
Het |
Trpa1 |
T |
C |
1: 14,944,605 (GRCm39) |
I1046M |
probably benign |
Het |
Ubn1 |
A |
G |
16: 4,892,243 (GRCm39) |
|
probably benign |
Het |
Ubp1 |
T |
C |
9: 113,780,754 (GRCm39) |
|
probably null |
Het |
Vmn2r2 |
A |
T |
3: 64,024,320 (GRCm39) |
F754I |
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 |
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 |
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'- AAATTGCTTGTCAGGGCCAG -3'
(R):5'- GACTGGTCATTCATCGTCCC -3'
Sequencing Primer
(F):5'- TTGTCAGGGCCAGGTACCAAG -3'
(R):5'- AAACCTCTGTGCCCCAGGAG -3'
|
Posted On |
2015-02-18 |