Mutagenetix > Incidental Mutation

Incidental Mutation 'R0472:Bmp8b'

46813

Institutional Source

Beutler Lab

Gene Symbol

Bmp8b

Ensembl Gene

ENSMUSG00000002384

Gene Name

bone morphogenetic protein 8b

Synonyms

Op3

MMRRC Submission

038672-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.180) question?

Stock #

R0472 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122998101-123019887 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 123015692 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 226 (D226E)

Ref Sequence

ENSEMBL: ENSMUSP00000002457 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002457] [ENSMUST00000102648]

AlphaFold

P55105

Predicted Effect

probably benign
Transcript: ENSMUST00000002457
AA Change: D226E

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000002457
Gene: ENSMUSG00000002384
AA Change: D226E

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: ENSMUST00000102648

SMART Domains

Protein: ENSMUSP00000099708
Gene: ENSMUSG00000076438

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
CoA_trans	43	272	2.02e-79	SMART
CoA_trans	301	499	5.07e-71	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151850

Meta Mutation Damage Score

0.1475

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

97% (65/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700128F08Rik	A	G	9: 8,222,123 (GRCm39)		noncoding transcript	Het
AI182371	T	C	2: 34,975,218 (GRCm39)	N337S	probably benign	Het
Aldh3b1	C	T	19: 3,964,024 (GRCm39)	R426H	probably damaging	Het
Arap2	A	G	5: 62,864,002 (GRCm39)	F541L	probably damaging	Het
Asap2	G	T	12: 21,263,186 (GRCm39)	R267L	possibly damaging	Het
Ass1	A	T	2: 31,404,831 (GRCm39)	N371Y	probably damaging	Het
C1ra	T	A	6: 124,494,403 (GRCm39)	D283E	possibly damaging	Het
Cacul1	G	T	19: 60,531,464 (GRCm39)	H268Q	probably damaging	Het
Cd9	T	C	6: 125,449,396 (GRCm39)	N49D	probably benign	Het
Cdc42bpa	A	G	1: 179,867,744 (GRCm39)	H193R	probably damaging	Het
Cep290	G	A	10: 100,387,317 (GRCm39)	G1935E	probably benign	Het
Cep350	A	T	1: 155,790,469 (GRCm39)	I1362N	probably damaging	Het
Chchd7	A	T	4: 3,943,416 (GRCm39)	N61I	possibly damaging	Het
Clca3a1	A	T	3: 144,733,106 (GRCm39)	L134Q	probably damaging	Het
Clec2j	T	C	6: 128,633,565 (GRCm39)		noncoding transcript	Het
Clvs1	G	A	4: 9,281,801 (GRCm39)	A82T	probably damaging	Het
Csn1s1	A	T	5: 87,825,486 (GRCm39)	Y231F	possibly damaging	Het
Cyp2c55	A	T	19: 39,019,823 (GRCm39)	T254S	probably benign	Het
Decr1	A	G	4: 15,919,849 (GRCm39)	S290P	probably damaging	Het
Dnai2	T	A	11: 114,636,015 (GRCm39)		probably benign	Het
Dock4	C	A	12: 40,888,437 (GRCm39)		probably benign	Het
Dst	T	C	1: 34,306,041 (GRCm39)		probably null	Het
Elmo2	A	G	2: 165,140,250 (GRCm39)	I315T	probably damaging	Het
Fcho2	A	G	13: 98,884,775 (GRCm39)	F431L	probably benign	Het
Fez2	A	G	17: 78,692,261 (GRCm39)		probably benign	Het
Gas2l3	C	T	10: 89,262,339 (GRCm39)	A128T	probably damaging	Het
Hpse2	T	C	19: 43,001,602 (GRCm39)	I222M	probably damaging	Het
Katnip	A	G	7: 125,472,139 (GRCm39)	N1548S	probably damaging	Het
Kcna2	A	G	3: 107,012,832 (GRCm39)	D471G	probably benign	Het
Kcnj13	T	A	1: 87,314,568 (GRCm39)	Y218F	probably benign	Het
Kif1a	T	C	1: 92,946,719 (GRCm39)	H1763R	probably damaging	Het
Krt1c	C	T	15: 101,721,688 (GRCm39)	R451H	probably damaging	Het
Lama2	A	G	10: 26,866,863 (GRCm39)	V2877A	probably damaging	Het
Lrrc2	A	T	9: 110,791,685 (GRCm39)	M80L	probably benign	Het
Naip6	A	G	13: 100,438,768 (GRCm39)	V343A	probably benign	Het
Nedd4l	T	C	18: 65,341,532 (GRCm39)	Y753H	probably damaging	Het
Nif3l1	A	C	1: 58,486,987 (GRCm39)	S58R	probably damaging	Het
Or51h7	A	T	7: 102,591,258 (GRCm39)	C175*	probably null	Het
Or5w20	T	A	2: 87,726,837 (GRCm39)	V98E	possibly damaging	Het
Or9r3	G	A	10: 129,948,449 (GRCm39)	S70F	probably damaging	Het
Osbpl11	C	A	16: 33,054,814 (GRCm39)	Y632*	probably null	Het
Pask	A	T	1: 93,248,639 (GRCm39)	D920E	probably benign	Het
Pclo	T	C	5: 14,731,608 (GRCm39)	V3370A	unknown	Het
Ptpn21	G	A	12: 98,670,499 (GRCm39)		probably benign	Het
Rph3al	T	C	11: 75,799,795 (GRCm39)	I55V	probably benign	Het
Rsad2	T	G	12: 26,504,167 (GRCm39)	I121L	possibly damaging	Het
Sergef	T	G	7: 46,283,170 (GRCm39)		probably benign	Het
Sp110	C	T	1: 85,516,841 (GRCm39)	E219K	possibly damaging	Het
Tas2r104	T	C	6: 131,662,434 (GRCm39)	I92V	probably benign	Het
Tasor2	A	G	13: 3,638,364 (GRCm39)	S456P	possibly damaging	Het
Tbc1d23	T	A	16: 56,993,469 (GRCm39)	I566F	possibly damaging	Het
Tbc1d9b	A	G	11: 50,059,055 (GRCm39)		probably null	Het
Tie1	T	A	4: 118,333,344 (GRCm39)	I841L	possibly damaging	Het
Tpo	A	G	12: 30,150,485 (GRCm39)	V465A	probably benign	Het
Ttll3	A	T	6: 113,386,300 (GRCm39)	Q711L	probably damaging	Het
Ttn	C	T	2: 76,783,385 (GRCm39)	R869H	probably benign	Het
Uggt2	A	G	14: 119,332,748 (GRCm39)	V62A	probably damaging	Het
Usp34	T	C	11: 23,334,509 (GRCm39)		probably benign	Het
Vmn1r17	C	A	6: 57,338,304 (GRCm39)	M20I	probably benign	Het
Vmn1r71	G	C	7: 10,482,019 (GRCm39)	S223C	possibly damaging	Het
Vmn2r120	C	T	17: 57,831,518 (GRCm39)	V424I	probably benign	Het
Vps13b	T	C	15: 35,417,779 (GRCm39)		probably null	Het
Wdfy3	C	A	5: 102,105,309 (GRCm39)	A173S	probably benign	Het
Wdr59	T	C	8: 112,213,629 (GRCm39)		probably null	Het
Ythdc2	A	T	18: 44,997,424 (GRCm39)	M994L	probably benign	Het
Zfp808	T	A	13: 62,320,120 (GRCm39)	F450I	probably damaging	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
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
R2200:Bmp8b	UTSW	4	123,016,815 (GRCm39)	missense	possibly damaging	0.81
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'- ACTTGAGCATCACTGGCAGAAGAC -3'
(R):5'- AGGTACTCCACTCTAAAGAAGGCCC -3'

Sequencing Primer
(F):5'- CTGGCAGAAGACTCTGGTAATCTC -3'
(R):5'- CCAGATCCCAGCCTTGC -3'

Posted On

2013-06-11