Incidental Mutation 'R4182:Tgfb2'
| ID |
319761 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tgfb2
|
| Ensembl Gene |
ENSMUSG00000039239 |
| Gene Name |
transforming growth factor, beta 2 |
| Synonyms |
Tgfb-2, Tgf-beta2 |
| MMRRC Submission |
041018-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4182 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
186354989-186438186 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 186361222 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 315
(D315V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043849
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045288]
[ENSMUST00000195201]
|
| AlphaFold |
P27090 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045288
AA Change: D315V
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000043849
Gene: ENSMUSG00000039239
AA Change: D315V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TGFb_propeptide
|
20 |
284 |
1.1e-38 |
PFAM |
|
TGFB
|
317 |
414 |
1.25e-37 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191766
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194593
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194960
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000195201
AA Change: D343V
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000142149
Gene: ENSMUSG00000039239
AA Change: D343V
| 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 |
|
| Meta Mutation Damage Score |
0.4970 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
98% (43/44) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap12 |
T |
C |
18: 6,111,734 (GRCm39) |
D210G |
probably damaging |
Het |
| Baz2b |
A |
T |
2: 59,928,801 (GRCm39) |
|
probably benign |
Het |
| Bcl9 |
A |
G |
3: 97,120,999 (GRCm39) |
|
probably null |
Het |
| Cfap20 |
A |
T |
8: 96,151,284 (GRCm39) |
I19N |
probably damaging |
Het |
| Clnk |
T |
A |
5: 38,905,193 (GRCm39) |
|
probably benign |
Het |
| Col18a1 |
C |
T |
10: 76,894,675 (GRCm39) |
|
probably null |
Het |
| Cux2 |
C |
T |
5: 122,006,555 (GRCm39) |
G905D |
probably damaging |
Het |
| Ddx1 |
A |
T |
12: 13,281,504 (GRCm39) |
L353* |
probably null |
Het |
| Ddx59 |
T |
A |
1: 136,367,599 (GRCm39) |
S569T |
probably benign |
Het |
| Des |
C |
G |
1: 75,339,228 (GRCm39) |
A251G |
probably benign |
Het |
| Dnajc21 |
T |
C |
15: 10,460,019 (GRCm39) |
|
probably null |
Het |
| Fam217a |
T |
C |
13: 35,094,239 (GRCm39) |
T416A |
possibly damaging |
Het |
| Gbp9 |
T |
A |
5: 105,231,461 (GRCm39) |
Q375L |
probably benign |
Het |
| Grsf1 |
G |
A |
5: 88,812,015 (GRCm39) |
P271S |
probably benign |
Het |
| H2-T24 |
A |
T |
17: 36,326,376 (GRCm39) |
N174K |
possibly damaging |
Het |
| Heatr3 |
T |
C |
8: 88,897,630 (GRCm39) |
|
probably benign |
Het |
| Lurap1l |
G |
A |
4: 80,872,095 (GRCm39) |
S196N |
probably benign |
Het |
| Naaa |
C |
T |
5: 92,420,413 (GRCm39) |
|
probably null |
Het |
| Nbea |
A |
G |
3: 55,915,848 (GRCm39) |
C875R |
probably damaging |
Het |
| Nme1 |
G |
A |
11: 93,851,630 (GRCm39) |
T87I |
probably benign |
Het |
| Nphp3 |
T |
C |
9: 103,915,663 (GRCm39) |
S124P |
probably benign |
Het |
| Nrap |
C |
T |
19: 56,338,759 (GRCm39) |
V907M |
probably damaging |
Het |
| Or1o2 |
T |
G |
17: 37,542,739 (GRCm39) |
H174P |
possibly damaging |
Het |
| Or4f59 |
G |
T |
2: 111,872,873 (GRCm39) |
P168Q |
probably damaging |
Het |
| Pcdhga8 |
A |
G |
18: 37,860,336 (GRCm39) |
N464S |
probably damaging |
Het |
| Pdcd6ip |
T |
C |
9: 113,529,078 (GRCm39) |
I75V |
probably benign |
Het |
| Ralgapa2 |
G |
A |
2: 146,277,914 (GRCm39) |
P416S |
probably damaging |
Het |
| Saal1 |
A |
G |
7: 46,360,076 (GRCm39) |
|
probably benign |
Het |
| Susd5 |
A |
G |
9: 113,925,053 (GRCm39) |
E312G |
probably benign |
Het |
| Tll1 |
C |
T |
8: 64,494,545 (GRCm39) |
D737N |
probably damaging |
Het |
| Tmem115 |
A |
G |
9: 107,412,482 (GRCm39) |
T269A |
probably damaging |
Het |
| Ttc39b |
T |
C |
4: 83,155,538 (GRCm39) |
D490G |
probably damaging |
Het |
| Vmn1r72 |
C |
T |
7: 11,403,995 (GRCm39) |
R151K |
probably benign |
Het |
| Vmn2r74 |
A |
T |
7: 85,606,395 (GRCm39) |
F317Y |
possibly damaging |
Het |
| Vmn2r79 |
A |
G |
7: 86,651,099 (GRCm39) |
H166R |
possibly damaging |
Het |
| Zfp560 |
A |
G |
9: 20,258,744 (GRCm39) |
I706T |
probably benign |
Het |
| Zfp982 |
A |
G |
4: 147,597,150 (GRCm39) |
K169R |
probably benign |
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 |
|
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 |
|
R6898:Tgfb2
|
UTSW |
1 |
186,364,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TTACAGCAACTGTTGAGTTTGG -3'
(R):5'- AGGGACTCACAGTGTCTCAC -3'
Sequencing Primer
(F):5'- ATGGCCATCATCACTGACTTAGG -3'
(R):5'- GTGTCTCACTGTTGACATTACATGAG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation