Incidental Mutation 'R6898:Tgfb2'
| ID |
538435 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tgfb2
|
| Ensembl Gene |
ENSMUSG00000039239 |
| Gene Name |
transforming growth factor, beta 2 |
| Synonyms |
Tgfb-2, Tgf-beta2 |
| MMRRC Submission |
044992-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6898 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
186354989-186438186 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 186364697 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 266
(I266F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142149
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045288]
[ENSMUST00000195201]
|
| AlphaFold |
P27090 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045288
AA Change: I238F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000043849
Gene: ENSMUSG00000039239
AA Change: I238F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TGFb_propeptide
|
20 |
284 |
1.1e-38 |
PFAM |
|
TGFB
|
317 |
414 |
1.25e-37 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000195201
AA Change: I266F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142149
Gene: ENSMUSG00000039239
AA Change: I266F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TGFb_propeptide
|
9 |
138 |
2.4e-9 |
PFAM |
|
Pfam:TGFb_propeptide
|
152 |
311 |
1.4e-23 |
PFAM |
|
TGFB
|
345 |
442 |
6.1e-40 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.5%
|
| Validation Efficiency |
100% (46/46) |
| MGI Phenotype |
FUNCTION: This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGF-beta family members. Mice lacking a functional copy of this gene display developmental defects in multiple organs and perinatal lethality. Heterozygous mutant mice exhibit aortic root aneurysm. This gene encodes multiple isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit defects of the heart, lungs, skull, limbs, spinal column, eyes, inner ears, and urogenital system, and perinatal mortality. Heterozygotes show abnormalities of the Cowpers' gland and intestinal mucosa. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd7 |
G |
T |
6: 18,868,100 (GRCm39) |
|
probably null |
Het |
| Aoc1l2 |
A |
T |
6: 48,907,975 (GRCm39) |
Y325F |
probably damaging |
Het |
| Aplnr |
A |
T |
2: 84,970,155 (GRCm39) |
|
probably benign |
Het |
| Capns2 |
T |
C |
8: 93,628,605 (GRCm39) |
S165P |
probably damaging |
Het |
| Col25a1 |
T |
C |
3: 130,378,377 (GRCm39) |
|
probably null |
Het |
| Crocc2 |
T |
C |
1: 93,143,304 (GRCm39) |
V1302A |
probably benign |
Het |
| Cul9 |
C |
A |
17: 46,821,952 (GRCm39) |
R1841M |
possibly damaging |
Het |
| Dnhd1 |
T |
C |
7: 105,336,584 (GRCm39) |
L1213P |
probably damaging |
Het |
| Dscam |
A |
T |
16: 96,631,100 (GRCm39) |
I305K |
probably benign |
Het |
| Dsp |
A |
G |
13: 38,376,193 (GRCm39) |
E1326G |
possibly damaging |
Het |
| Eif4a3l1 |
T |
A |
6: 136,305,617 (GRCm39) |
V26E |
probably benign |
Het |
| Emc9 |
A |
G |
14: 55,822,367 (GRCm39) |
|
probably null |
Het |
| Eppk1 |
A |
C |
15: 75,996,126 (GRCm39) |
S252A |
probably benign |
Het |
| Fn1 |
T |
A |
1: 71,639,572 (GRCm39) |
T1830S |
probably damaging |
Het |
| Fryl |
A |
T |
5: 73,179,485 (GRCm39) |
M2974K |
probably damaging |
Het |
| Gdpd3 |
C |
A |
7: 126,370,201 (GRCm39) |
S250* |
probably null |
Het |
| Gnl3 |
A |
T |
14: 30,735,136 (GRCm39) |
S485R |
probably benign |
Het |
| Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
| Hsd17b3 |
T |
C |
13: 64,207,339 (GRCm39) |
Y234C |
probably benign |
Het |
| Lima1 |
T |
C |
15: 99,679,148 (GRCm39) |
H271R |
possibly damaging |
Het |
| Nfu1 |
G |
A |
6: 86,994,034 (GRCm39) |
|
probably null |
Het |
| Noto |
A |
G |
6: 85,404,942 (GRCm39) |
E97G |
probably damaging |
Het |
| Ntng1 |
T |
C |
3: 109,779,534 (GRCm39) |
K348E |
probably damaging |
Het |
| Or2y13 |
G |
A |
11: 49,414,536 (GRCm39) |
|
probably benign |
Het |
| Or4a70 |
C |
T |
2: 89,324,594 (GRCm39) |
G21R |
possibly damaging |
Het |
| Osmr |
C |
A |
15: 6,845,364 (GRCm39) |
V801F |
probably damaging |
Het |
| Papln |
A |
G |
12: 83,824,234 (GRCm39) |
E554G |
probably benign |
Het |
| Pitrm1 |
T |
C |
13: 6,605,495 (GRCm39) |
L175P |
probably damaging |
Het |
| Pramel22 |
A |
T |
4: 143,382,053 (GRCm39) |
N214K |
probably damaging |
Het |
| Pramel7 |
T |
C |
2: 87,320,070 (GRCm39) |
T408A |
probably damaging |
Het |
| Serinc2 |
A |
T |
4: 130,149,235 (GRCm39) |
D322E |
probably benign |
Het |
| Setx |
T |
C |
2: 29,038,120 (GRCm39) |
V1535A |
probably benign |
Het |
| Sgce |
A |
T |
6: 4,689,666 (GRCm39) |
V389E |
probably damaging |
Het |
| Snx11 |
G |
A |
11: 96,659,888 (GRCm39) |
T267I |
probably benign |
Het |
| Spata6l |
T |
G |
19: 28,921,688 (GRCm39) |
Q146P |
probably benign |
Het |
| Specc1 |
G |
A |
11: 62,009,162 (GRCm39) |
S306N |
probably benign |
Het |
| Spocd1 |
A |
G |
4: 129,850,305 (GRCm39) |
|
probably benign |
Het |
| St7 |
T |
A |
6: 17,854,945 (GRCm39) |
V294D |
probably damaging |
Het |
| Stab1 |
C |
T |
14: 30,880,920 (GRCm39) |
R624Q |
probably benign |
Het |
| Tcf21 |
T |
C |
10: 22,695,403 (GRCm39) |
I134V |
probably benign |
Het |
| Tgfbr3l |
A |
G |
8: 4,300,365 (GRCm39) |
I209M |
possibly damaging |
Het |
| Tmcc3 |
A |
G |
10: 94,387,034 (GRCm39) |
|
probably null |
Het |
| Toe1 |
A |
G |
4: 116,664,671 (GRCm39) |
S16P |
probably damaging |
Het |
| Vps16 |
T |
C |
2: 130,279,601 (GRCm39) |
V38A |
possibly damaging |
Het |
| Wnk2 |
G |
T |
13: 49,224,557 (GRCm39) |
D1001E |
probably damaging |
Het |
|
| Other mutations in Tgfb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00959:Tgfb2
|
APN |
1 |
186,436,784 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL01304:Tgfb2
|
APN |
1 |
186,357,670 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03028:Tgfb2
|
APN |
1 |
186,362,806 (GRCm39) |
critical splice donor site |
probably null |
|
|
PIT4486001:Tgfb2
|
UTSW |
1 |
186,422,924 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2017:Tgfb2
|
UTSW |
1 |
186,362,962 (GRCm39) |
nonsense |
probably null |
|
|
R2880:Tgfb2
|
UTSW |
1 |
186,436,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4182:Tgfb2
|
UTSW |
1 |
186,361,222 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4292:Tgfb2
|
UTSW |
1 |
186,364,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4478:Tgfb2
|
UTSW |
1 |
186,364,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4801:Tgfb2
|
UTSW |
1 |
186,361,110 (GRCm39) |
nonsense |
probably null |
|
|
R4802:Tgfb2
|
UTSW |
1 |
186,361,110 (GRCm39) |
nonsense |
probably null |
|
|
R5247:Tgfb2
|
UTSW |
1 |
186,382,111 (GRCm39) |
splice site |
probably null |
|
|
R5254:Tgfb2
|
UTSW |
1 |
186,436,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5614:Tgfb2
|
UTSW |
1 |
186,357,710 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5988:Tgfb2
|
UTSW |
1 |
186,436,778 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6961:Tgfb2
|
UTSW |
1 |
186,382,032 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7098:Tgfb2
|
UTSW |
1 |
186,362,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7346:Tgfb2
|
UTSW |
1 |
186,382,077 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7729:Tgfb2
|
UTSW |
1 |
186,362,954 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8167:Tgfb2
|
UTSW |
1 |
186,422,942 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8825:Tgfb2
|
UTSW |
1 |
186,361,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8884:Tgfb2
|
UTSW |
1 |
186,364,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCCACTGCTAAGGAAATCATTGCTC -3'
(R):5'- TCTCCTTCGACGTGACAGAC -3'
Sequencing Primer
(F):5'- TCAAATAAATGAGAGTTCCCACAC -3'
(R):5'- TGACAGACGCTGTGCAG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation