Incidental Mutation 'R2200:Bmp8b'
| ID |
238600 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bmp8b
|
| Ensembl Gene |
ENSMUSG00000002384 |
| Gene Name |
bone morphogenetic protein 8b |
| Synonyms |
Op3 |
| MMRRC Submission |
040202-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.174)
|
| Stock # |
R2200 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
122998101-123019887 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 123016815 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 339
(M339L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002457
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002457]
[ENSMUST00000030404]
|
| AlphaFold |
P55105 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000002457
AA Change: M339L
PolyPhen 2
Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000002457
Gene: ENSMUSG00000002384
AA Change: M339L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:TGFb_propeptide
|
26 |
248 |
2.7e-62 |
PFAM |
|
TGFB
|
298 |
399 |
2.83e-59 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030404
|
| SMART Domains |
Protein: ENSMUSP00000030404
Gene: ENSMUSG00000028651
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
7 |
80 |
1.36e-25 |
SMART |
|
low complexity region
|
111 |
131 |
N/A |
INTRINSIC |
|
Pfam:Pro_isomerase
|
143 |
299 |
1.6e-47 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126558
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136466
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151850
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| 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 each subunit of the disulfide-linked homodimer. The encoded protein may play a role in the generation of primordial germ cells, and has been shown to stimulate thermogenesis in brown adipose tissue. Male mice lacking a functional copy of this gene exhibit variable degrees of germ-cell deficiency. Homozygous knockout mice of both sexes exhibit impaired thermogenesis and reduced metabolic rate, resulting in weight gain. This gene may have arose from a gene duplication event and its gene duplicate is also present on chromosome 4. [provided by RefSeq, Jul 2016]
PHENOTYPE: Incidence of lethality among homozygous null mutants is variable depending on genetic background and due to allantoic and embryonic abnormalities. Heterozygous and surviving homozygous males exhibit varying degrees of germ cell deficiency and infertility, also background dependent. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acer1 |
T |
C |
17: 57,265,423 (GRCm39) |
I135M |
probably benign |
Het |
| Ano7 |
A |
G |
1: 93,308,158 (GRCm39) |
E63G |
possibly damaging |
Het |
| Asah1 |
A |
G |
8: 41,796,765 (GRCm39) |
|
probably null |
Het |
| B3gat2 |
C |
T |
1: 23,801,873 (GRCm39) |
P53L |
probably benign |
Het |
| Bpifb9b |
C |
A |
2: 154,155,574 (GRCm39) |
Q358K |
probably benign |
Het |
| Cbs |
T |
C |
17: 31,843,238 (GRCm39) |
D231G |
probably damaging |
Het |
| Chd6 |
A |
G |
2: 160,825,673 (GRCm39) |
Y1144H |
probably damaging |
Het |
| Clca3a2 |
T |
A |
3: 144,519,685 (GRCm39) |
I230L |
probably benign |
Het |
| Clec2d |
A |
T |
6: 129,161,831 (GRCm39) |
T155S |
possibly damaging |
Het |
| Cpxm1 |
G |
T |
2: 130,235,117 (GRCm39) |
F567L |
probably damaging |
Het |
| Cyp4f16 |
G |
T |
17: 32,756,078 (GRCm39) |
A36S |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 117,993,235 (GRCm39) |
|
probably benign |
Het |
| Eml5 |
T |
C |
12: 98,791,676 (GRCm39) |
D1280G |
probably damaging |
Het |
| Ergic1 |
C |
A |
17: 26,860,566 (GRCm39) |
A218D |
possibly damaging |
Het |
| Eva1a |
A |
G |
6: 82,068,894 (GRCm39) |
R74G |
probably benign |
Het |
| Fhip1a |
A |
G |
3: 85,637,628 (GRCm39) |
S224P |
probably damaging |
Het |
| Fus |
T |
A |
7: 127,576,400 (GRCm39) |
N273K |
probably damaging |
Het |
| Ipo13 |
A |
C |
4: 117,762,100 (GRCm39) |
|
probably null |
Het |
| Itgb3 |
T |
A |
11: 104,531,812 (GRCm39) |
|
probably null |
Het |
| Lrif1 |
T |
A |
3: 106,641,874 (GRCm39) |
S63R |
probably damaging |
Het |
| Lrig3 |
A |
G |
10: 125,832,478 (GRCm39) |
|
probably null |
Het |
| Lrp1b |
A |
T |
2: 41,174,177 (GRCm39) |
N1547K |
probably benign |
Het |
| Mme |
A |
T |
3: 63,287,713 (GRCm39) |
N738I |
possibly damaging |
Het |
| Morc2a |
A |
G |
11: 3,633,919 (GRCm39) |
N677S |
probably benign |
Het |
| Mrpl35 |
A |
C |
6: 71,794,723 (GRCm39) |
L82V |
probably benign |
Het |
| Mybpc1 |
A |
T |
10: 88,391,557 (GRCm39) |
N313K |
probably damaging |
Het |
| Podn |
T |
C |
4: 107,879,787 (GRCm39) |
D66G |
probably damaging |
Het |
| Ptpru |
A |
T |
4: 131,548,124 (GRCm39) |
N52K |
probably damaging |
Het |
| Pyroxd1 |
G |
T |
6: 142,304,808 (GRCm39) |
R345L |
probably benign |
Het |
| Qser1 |
A |
G |
2: 104,619,358 (GRCm39) |
S485P |
probably damaging |
Het |
| Rbm46 |
A |
T |
3: 82,771,351 (GRCm39) |
D421E |
probably benign |
Het |
| Rgs10 |
T |
C |
7: 127,990,761 (GRCm39) |
E109G |
probably damaging |
Het |
| Samd8 |
C |
T |
14: 21,825,388 (GRCm39) |
P178S |
probably benign |
Het |
| Scaf11 |
T |
C |
15: 96,318,404 (GRCm39) |
K387E |
probably damaging |
Het |
| Sccpdh |
G |
T |
1: 179,498,171 (GRCm39) |
V72F |
possibly damaging |
Het |
| Sec22a |
A |
T |
16: 35,134,527 (GRCm39) |
V285E |
probably damaging |
Het |
| Slc19a3 |
A |
G |
1: 83,000,664 (GRCm39) |
S118P |
probably damaging |
Het |
| Sun1 |
C |
A |
5: 139,216,974 (GRCm39) |
R338S |
probably benign |
Het |
| Taf1c |
A |
G |
8: 120,325,417 (GRCm39) |
F815S |
probably benign |
Het |
| Zcchc14 |
A |
T |
8: 122,332,167 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Bmp8b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00733:Bmp8b
|
APN |
4 |
123,018,202 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0334:Bmp8b
|
UTSW |
4 |
123,008,553 (GRCm39) |
splice site |
probably null |
|
|
R0441:Bmp8b
|
UTSW |
4 |
123,018,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0472:Bmp8b
|
UTSW |
4 |
123,015,692 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0609:Bmp8b
|
UTSW |
4 |
123,015,692 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0732:Bmp8b
|
UTSW |
4 |
122,999,199 (GRCm39) |
missense |
unknown |
|
|
R1221:Bmp8b
|
UTSW |
4 |
123,008,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3847:Bmp8b
|
UTSW |
4 |
123,009,961 (GRCm39) |
unclassified |
probably benign |
|
|
R4003:Bmp8b
|
UTSW |
4 |
123,015,671 (GRCm39) |
unclassified |
probably benign |
|
|
R4777:Bmp8b
|
UTSW |
4 |
123,015,793 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4834:Bmp8b
|
UTSW |
4 |
123,016,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4911:Bmp8b
|
UTSW |
4 |
123,009,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5207:Bmp8b
|
UTSW |
4 |
123,009,714 (GRCm39) |
unclassified |
probably benign |
|
|
R5509:Bmp8b
|
UTSW |
4 |
123,008,369 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5549:Bmp8b
|
UTSW |
4 |
123,018,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5795:Bmp8b
|
UTSW |
4 |
123,015,761 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R6142:Bmp8b
|
UTSW |
4 |
123,009,043 (GRCm39) |
missense |
probably benign |
|
|
R7549:Bmp8b
|
UTSW |
4 |
122,999,448 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7712:Bmp8b
|
UTSW |
4 |
123,018,257 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8245:Bmp8b
|
UTSW |
4 |
123,008,532 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9788:Bmp8b
|
UTSW |
4 |
122,999,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACACAGCCTCAGGTCATCC -3'
(R):5'- GATACACAGGACACATGTTGGG -3'
Sequencing Primer
(F):5'- CTCAGGTCATCCGGTGATAGG -3'
(R):5'- TGTTCAGACACCCATGTGAG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation