Incidental Mutation 'R7978:Tgfbr3'
ID |
651024 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tgfbr3
|
Ensembl Gene |
ENSMUSG00000029287 |
Gene Name |
transforming growth factor, beta receptor III |
Synonyms |
betaglycan, TBRIII, 1110036H20Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7978 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
107254436-107437495 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 107287726 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 491
(N491S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031224
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031224]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031224
AA Change: N491S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000031224 Gene: ENSMUSG00000029287 AA Change: N491S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
internal_repeat_1
|
64 |
193 |
2.48e-5 |
PROSPERO |
internal_repeat_1
|
232 |
361 |
2.48e-5 |
PROSPERO |
low complexity region
|
419 |
430 |
N/A |
INTRINSIC |
ZP
|
454 |
731 |
8.12e-65 |
SMART |
transmembrane domain
|
786 |
808 |
N/A |
INTRINSIC |
low complexity region
|
835 |
849 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes the transforming growth factor (TGF)-beta type III receptor. The encoded receptor is a membrane proteoglycan that often functions as a co-receptor with other TGF-beta receptor superfamily members. Ectodomain shedding produces soluble TGFBR3, which may inhibit TGFB signaling. Decreased expression of this receptor has been observed in various cancers. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene.[provided by RefSeq, Sep 2010] PHENOTYPE: Mice homozygous for disruptions in this gene usually die as embryos. The very few individuals that survive are poorly fertile with abnormalities of the spleen, liver, heart, and skeletal system. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
A |
T |
5: 77,036,515 (GRCm39) |
I342N |
probably damaging |
Het |
Alb |
A |
T |
5: 90,619,932 (GRCm39) |
N453I |
possibly damaging |
Het |
Aox4 |
C |
A |
1: 58,274,366 (GRCm39) |
S384Y |
probably damaging |
Het |
Ap1g1 |
C |
T |
8: 110,564,399 (GRCm39) |
R315* |
probably null |
Het |
Cachd1 |
T |
C |
4: 100,832,060 (GRCm39) |
Y741H |
probably damaging |
Het |
Cacna2d2 |
C |
G |
9: 107,395,456 (GRCm39) |
L661V |
probably benign |
Het |
Ccdc90b |
T |
A |
7: 92,216,921 (GRCm39) |
H64Q |
probably damaging |
Het |
Ccdc93 |
C |
A |
1: 121,426,960 (GRCm39) |
N582K |
possibly damaging |
Het |
Cdh20 |
A |
G |
1: 109,921,835 (GRCm39) |
|
probably benign |
Het |
Cnksr1 |
T |
C |
4: 133,963,342 (GRCm39) |
N78D |
probably damaging |
Het |
Cttnbp2nl |
A |
G |
3: 104,915,307 (GRCm39) |
V132A |
probably damaging |
Het |
Cwc25 |
G |
A |
11: 97,644,044 (GRCm39) |
Q230* |
probably null |
Het |
Dsel |
G |
A |
1: 111,787,449 (GRCm39) |
R1029* |
probably null |
Het |
Dspp |
TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG |
TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG |
5: 104,326,227 (GRCm39) |
|
probably benign |
Het |
Fam120a |
T |
C |
13: 49,055,750 (GRCm39) |
Y646C |
probably damaging |
Het |
Hltf |
T |
C |
3: 20,146,968 (GRCm39) |
W576R |
probably damaging |
Het |
Hmcn2 |
A |
G |
2: 31,279,359 (GRCm39) |
N1787S |
probably benign |
Het |
Ift122 |
A |
G |
6: 115,897,313 (GRCm39) |
E904G |
probably benign |
Het |
Igkv17-121 |
C |
T |
6: 68,013,806 (GRCm39) |
T2I |
unknown |
Het |
Ino80 |
T |
G |
2: 119,269,874 (GRCm39) |
R590S |
possibly damaging |
Het |
Intu |
T |
A |
3: 40,652,069 (GRCm39) |
I842N |
probably damaging |
Het |
Itgae |
A |
T |
11: 73,024,913 (GRCm39) |
T1015S |
probably damaging |
Het |
Kank1 |
GCGAACG |
GCG |
19: 25,388,569 (GRCm39) |
|
probably null |
Het |
Kcna10 |
A |
G |
3: 107,101,663 (GRCm39) |
E98G |
probably damaging |
Het |
Kcnb2 |
T |
A |
1: 15,780,837 (GRCm39) |
Y570N |
probably benign |
Het |
Kmt2c |
T |
C |
5: 25,564,676 (GRCm39) |
I923V |
probably benign |
Het |
Kptn |
A |
G |
7: 15,859,697 (GRCm39) |
D307G |
probably damaging |
Het |
Myo3b |
T |
C |
2: 70,083,458 (GRCm39) |
Y704H |
probably damaging |
Het |
Or12d13 |
A |
G |
17: 37,647,392 (GRCm39) |
F244L |
probably benign |
Het |
Or4c100 |
T |
A |
2: 88,356,014 (GRCm39) |
L29* |
probably null |
Het |
Or4c58 |
A |
T |
2: 89,674,611 (GRCm39) |
C235* |
probably null |
Het |
Or4f59 |
T |
C |
2: 111,872,523 (GRCm39) |
T285A |
possibly damaging |
Het |
Pmel |
G |
A |
10: 128,551,819 (GRCm39) |
V218M |
probably damaging |
Het |
Prkar2b |
T |
C |
12: 32,013,024 (GRCm39) |
H364R |
possibly damaging |
Het |
Psd4 |
T |
C |
2: 24,294,867 (GRCm39) |
F809S |
probably damaging |
Het |
Rabgap1l |
A |
G |
1: 160,078,838 (GRCm39) |
S59P |
|
Het |
Rgr |
A |
G |
14: 36,766,645 (GRCm39) |
F134L |
probably benign |
Het |
Rspry1 |
G |
T |
8: 95,349,753 (GRCm39) |
R47L |
probably damaging |
Het |
Scd3 |
G |
T |
19: 44,222,688 (GRCm39) |
E113* |
probably null |
Het |
Slc22a12 |
G |
A |
19: 6,586,938 (GRCm39) |
A476V |
possibly damaging |
Het |
Smg1 |
T |
C |
7: 117,792,878 (GRCm39) |
E560G |
unknown |
Het |
Snx3 |
A |
G |
10: 42,378,346 (GRCm39) |
D7G |
probably benign |
Het |
Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
Tbc1d12 |
A |
G |
19: 38,905,285 (GRCm39) |
M667V |
probably benign |
Het |
Tbc1d30 |
A |
T |
10: 121,142,104 (GRCm39) |
V81E |
probably damaging |
Het |
Tbc1d9 |
A |
T |
8: 83,966,583 (GRCm39) |
I395F |
probably damaging |
Het |
Tes |
C |
A |
6: 17,096,322 (GRCm39) |
N103K |
probably benign |
Het |
Tet2 |
T |
C |
3: 133,193,426 (GRCm39) |
Y336C |
possibly damaging |
Het |
Tomt |
T |
C |
7: 101,549,554 (GRCm39) |
I245V |
probably damaging |
Het |
Trbc1 |
T |
C |
6: 41,515,236 (GRCm39) |
L28P |
|
Het |
Trp63 |
T |
C |
16: 25,639,436 (GRCm39) |
V208A |
unknown |
Het |
Ttll8 |
G |
T |
15: 88,799,565 (GRCm39) |
N625K |
probably benign |
Het |
Ush2a |
T |
A |
1: 188,132,135 (GRCm39) |
W786R |
probably benign |
Het |
Vmn2r97 |
A |
T |
17: 19,167,854 (GRCm39) |
I703F |
probably damaging |
Het |
|
Other mutations in Tgfbr3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00966:Tgfbr3
|
APN |
5 |
107,290,367 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01135:Tgfbr3
|
APN |
5 |
107,362,894 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01375:Tgfbr3
|
APN |
5 |
107,284,837 (GRCm39) |
missense |
probably benign |
|
IGL01457:Tgfbr3
|
APN |
5 |
107,297,764 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01599:Tgfbr3
|
APN |
5 |
107,266,317 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01646:Tgfbr3
|
APN |
5 |
107,269,279 (GRCm39) |
splice site |
probably benign |
|
IGL01945:Tgfbr3
|
APN |
5 |
107,269,224 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03039:Tgfbr3
|
APN |
5 |
107,325,665 (GRCm39) |
splice site |
probably benign |
|
IGL03202:Tgfbr3
|
APN |
5 |
107,257,630 (GRCm39) |
splice site |
probably benign |
|
IGL03378:Tgfbr3
|
APN |
5 |
107,257,568 (GRCm39) |
missense |
probably damaging |
1.00 |
R0131:Tgfbr3
|
UTSW |
5 |
107,280,682 (GRCm39) |
missense |
probably benign |
0.00 |
R0452:Tgfbr3
|
UTSW |
5 |
107,288,289 (GRCm39) |
missense |
probably benign |
0.00 |
R0665:Tgfbr3
|
UTSW |
5 |
107,325,716 (GRCm39) |
missense |
probably benign |
0.11 |
R0667:Tgfbr3
|
UTSW |
5 |
107,325,716 (GRCm39) |
missense |
probably benign |
0.11 |
R0751:Tgfbr3
|
UTSW |
5 |
107,287,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R1373:Tgfbr3
|
UTSW |
5 |
107,362,809 (GRCm39) |
missense |
probably benign |
0.01 |
R1777:Tgfbr3
|
UTSW |
5 |
107,284,796 (GRCm39) |
missense |
probably benign |
0.31 |
R1887:Tgfbr3
|
UTSW |
5 |
107,284,874 (GRCm39) |
missense |
probably damaging |
1.00 |
R3019:Tgfbr3
|
UTSW |
5 |
107,285,412 (GRCm39) |
missense |
possibly damaging |
0.70 |
R3552:Tgfbr3
|
UTSW |
5 |
107,287,705 (GRCm39) |
missense |
probably damaging |
0.99 |
R3617:Tgfbr3
|
UTSW |
5 |
107,288,485 (GRCm39) |
missense |
possibly damaging |
0.65 |
R3901:Tgfbr3
|
UTSW |
5 |
107,362,753 (GRCm39) |
splice site |
probably benign |
|
R4830:Tgfbr3
|
UTSW |
5 |
107,257,585 (GRCm39) |
missense |
probably damaging |
1.00 |
R4939:Tgfbr3
|
UTSW |
5 |
107,278,335 (GRCm39) |
missense |
probably benign |
|
R5020:Tgfbr3
|
UTSW |
5 |
107,362,836 (GRCm39) |
missense |
probably damaging |
1.00 |
R5044:Tgfbr3
|
UTSW |
5 |
107,284,795 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5619:Tgfbr3
|
UTSW |
5 |
107,288,380 (GRCm39) |
missense |
probably benign |
0.23 |
R5752:Tgfbr3
|
UTSW |
5 |
107,287,673 (GRCm39) |
missense |
probably benign |
0.01 |
R5768:Tgfbr3
|
UTSW |
5 |
107,297,761 (GRCm39) |
missense |
probably benign |
|
R5799:Tgfbr3
|
UTSW |
5 |
107,257,474 (GRCm39) |
utr 3 prime |
probably benign |
|
R5818:Tgfbr3
|
UTSW |
5 |
107,280,869 (GRCm39) |
missense |
probably benign |
|
R5846:Tgfbr3
|
UTSW |
5 |
107,288,521 (GRCm39) |
missense |
possibly damaging |
0.51 |
R5859:Tgfbr3
|
UTSW |
5 |
107,288,381 (GRCm39) |
missense |
probably benign |
0.00 |
R6049:Tgfbr3
|
UTSW |
5 |
107,266,351 (GRCm39) |
missense |
probably damaging |
0.99 |
R6378:Tgfbr3
|
UTSW |
5 |
107,325,679 (GRCm39) |
missense |
probably benign |
0.00 |
R6696:Tgfbr3
|
UTSW |
5 |
107,284,796 (GRCm39) |
missense |
probably benign |
0.02 |
R6823:Tgfbr3
|
UTSW |
5 |
107,297,780 (GRCm39) |
missense |
probably damaging |
1.00 |
R6994:Tgfbr3
|
UTSW |
5 |
107,280,892 (GRCm39) |
missense |
probably damaging |
1.00 |
R7454:Tgfbr3
|
UTSW |
5 |
107,362,894 (GRCm39) |
missense |
probably damaging |
1.00 |
R7773:Tgfbr3
|
UTSW |
5 |
107,288,368 (GRCm39) |
missense |
probably benign |
0.00 |
R8201:Tgfbr3
|
UTSW |
5 |
107,278,431 (GRCm39) |
missense |
probably benign |
0.01 |
R8296:Tgfbr3
|
UTSW |
5 |
107,287,640 (GRCm39) |
missense |
probably damaging |
1.00 |
R8758:Tgfbr3
|
UTSW |
5 |
107,297,750 (GRCm39) |
missense |
probably damaging |
1.00 |
R9232:Tgfbr3
|
UTSW |
5 |
107,290,361 (GRCm39) |
missense |
possibly damaging |
0.56 |
R9360:Tgfbr3
|
UTSW |
5 |
107,257,550 (GRCm39) |
missense |
unknown |
|
R9784:Tgfbr3
|
UTSW |
5 |
107,297,799 (GRCm39) |
missense |
probably benign |
0.00 |
X0022:Tgfbr3
|
UTSW |
5 |
107,284,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ATTTTCAGCGGCTAACCCTC -3'
(R):5'- TGATATTCCCAGGAGAGGCTGC -3'
Sequencing Primer
(F):5'- TTTCAGCGGCTAACCCTCGATAATAC -3'
(R):5'- CAGGAGAGGCTGCCCAGATG -3'
|
Posted On |
2020-09-15 |