Incidental Mutation 'R4039:Tgfbr2'
ID |
313851 |
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 |
041614-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4039 (G1)
|
Quality Score |
122 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
115916763-116004431 bp(-) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
T to C
at 116004105 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 1
(M1V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000062333
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035014]
[ENSMUST00000061101]
|
AlphaFold |
Q62312 |
Predicted Effect |
probably null
Transcript: ENSMUST00000035014
AA Change: M1V
PolyPhen 2
Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000035014 Gene: ENSMUSG00000032440 AA Change: M1V
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 null
Transcript: ENSMUST00000061101
AA Change: M1V
PolyPhen 2
Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000062333 Gene: ENSMUSG00000032440 AA Change: M1V
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 |
0.9596 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
Validation Efficiency |
98% (48/49) |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933412E24Rik |
A |
T |
15: 59,888,215 (GRCm39) |
L75Q |
possibly damaging |
Het |
Cep290 |
T |
C |
10: 100,348,263 (GRCm39) |
|
probably null |
Het |
Col11a2 |
A |
G |
17: 34,264,748 (GRCm39) |
T268A |
probably benign |
Het |
Crnkl1 |
T |
A |
2: 145,774,247 (GRCm39) |
D72V |
possibly damaging |
Het |
Csn2 |
C |
T |
5: 87,845,935 (GRCm39) |
M1I |
probably null |
Het |
Dhcr24 |
T |
C |
4: 106,431,075 (GRCm39) |
F255L |
probably benign |
Het |
Epn2 |
A |
G |
11: 61,437,348 (GRCm39) |
Y75H |
probably damaging |
Het |
Galnt3 |
A |
T |
2: 65,915,671 (GRCm39) |
H563Q |
probably damaging |
Het |
Galnt9 |
T |
C |
5: 110,762,074 (GRCm39) |
V37A |
probably damaging |
Het |
Glb1l3 |
A |
C |
9: 26,740,343 (GRCm39) |
M329R |
probably damaging |
Het |
Gorab |
A |
T |
1: 163,224,635 (GRCm39) |
D55E |
possibly damaging |
Het |
Herc2 |
G |
A |
7: 55,806,159 (GRCm39) |
R2318Q |
probably damaging |
Het |
Hspa2 |
T |
C |
12: 76,452,542 (GRCm39) |
V412A |
probably damaging |
Het |
Hspb8 |
A |
G |
5: 116,547,403 (GRCm39) |
V193A |
probably benign |
Het |
Ly75 |
A |
G |
2: 60,183,339 (GRCm39) |
L481P |
probably damaging |
Het |
Lyzl1 |
T |
C |
18: 4,169,140 (GRCm39) |
L48P |
probably damaging |
Het |
Mettl27 |
C |
T |
5: 134,969,463 (GRCm39) |
Q212* |
probably null |
Het |
Mmachc |
T |
A |
4: 116,563,215 (GRCm39) |
T47S |
probably damaging |
Het |
Ncam2 |
C |
T |
16: 81,287,211 (GRCm39) |
S375L |
probably benign |
Het |
Ogfrl1 |
T |
C |
1: 23,418,045 (GRCm39) |
|
probably benign |
Het |
Parp9 |
T |
C |
16: 35,780,417 (GRCm39) |
L461P |
probably damaging |
Het |
Pcsk7 |
A |
G |
9: 45,839,305 (GRCm39) |
|
probably null |
Het |
Plekhh1 |
C |
A |
12: 79,101,957 (GRCm39) |
H342Q |
probably benign |
Het |
Prdm13 |
T |
G |
4: 21,685,774 (GRCm39) |
|
probably benign |
Het |
Prkaa2 |
T |
C |
4: 104,908,444 (GRCm39) |
N144D |
probably damaging |
Het |
Ptpn12 |
A |
T |
5: 21,207,508 (GRCm39) |
Y283* |
probably null |
Het |
Rab12 |
T |
C |
17: 66,807,396 (GRCm39) |
Y111C |
possibly damaging |
Het |
Ralgapa1 |
T |
C |
12: 55,842,486 (GRCm39) |
N61S |
probably damaging |
Het |
Rims1 |
T |
C |
1: 22,514,793 (GRCm39) |
S537G |
probably damaging |
Het |
Sash1 |
G |
T |
10: 8,605,391 (GRCm39) |
P1000T |
probably damaging |
Het |
Skint5 |
G |
T |
4: 113,743,011 (GRCm39) |
T352K |
unknown |
Het |
Slc12a5 |
A |
G |
2: 164,834,250 (GRCm39) |
E757G |
probably benign |
Het |
Sycp2 |
C |
A |
2: 178,022,720 (GRCm39) |
M470I |
possibly damaging |
Het |
Szt2 |
T |
C |
4: 118,222,149 (GRCm39) |
|
probably benign |
Het |
Tbc1d1 |
A |
G |
5: 64,473,771 (GRCm39) |
T765A |
probably damaging |
Het |
Tnfrsf11a |
A |
G |
1: 105,755,464 (GRCm39) |
|
probably null |
Het |
Trim43b |
A |
G |
9: 88,973,400 (GRCm39) |
L111P |
probably damaging |
Het |
Ttbk2 |
A |
T |
2: 120,576,276 (GRCm39) |
S900R |
probably benign |
Het |
Unc79 |
G |
A |
12: 103,041,208 (GRCm39) |
C747Y |
possibly damaging |
Het |
Vmn1r218 |
T |
C |
13: 23,320,971 (GRCm39) |
V26A |
possibly damaging |
Het |
Vmn2r115 |
A |
T |
17: 23,564,077 (GRCm39) |
Y83F |
probably benign |
Het |
Zfp536 |
A |
T |
7: 37,268,975 (GRCm39) |
L147Q |
probably damaging |
Het |
Zfp931 |
T |
A |
2: 177,709,777 (GRCm39) |
Q203L |
possibly damaging |
Het |
Zswim2 |
G |
A |
2: 83,746,338 (GRCm39) |
H367Y |
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 |
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'- TCCTGCTCTTTTGCGAGAGATC -3'
(R):5'- CCCGGGTAAAGTTGATGAGTG -3'
Sequencing Primer
(F):5'- TCGGGCCGCTACAAACTTC -3'
(R):5'- AGTGAGTCACTCGCGCG -3'
|
Posted On |
2015-04-30 |