Mutagenetix > Incidental Mutation

Incidental Mutation 'R0334:Bmp8b'

26096

Institutional Source

Beutler Lab

Gene Symbol

Bmp8b

Ensembl Gene

ENSMUSG00000002384

Gene Name

bone morphogenetic protein 8b

Synonyms

Op3

MMRRC Submission

038543-MU

Accession Numbers

Essential gene?

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

Stock #

R0334 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122998101-123019887 bp(+) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

A to G at 123008553 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000002457 (fasta)

Gene Model

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

AlphaFold

P55105

Predicted Effect

probably null
Transcript: ENSMUST00000002457

SMART Domains

Protein: ENSMUSP00000002457
Gene: ENSMUSG00000002384

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192482

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194481

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.6%

Validation Efficiency

99% (68/69)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aggf1	T	C	13: 95,508,105 (GRCm39)	N87S	probably benign	Het
Ap2b1	T	C	11: 83,258,700 (GRCm39)		probably benign	Het
Arfgef3	A	G	10: 18,468,029 (GRCm39)	Y1724H	probably damaging	Het
Arhgef10l	G	A	4: 140,311,237 (GRCm39)	Q243*	probably null	Het
Atp8a2	A	T	14: 59,928,961 (GRCm39)	F1031Y	probably damaging	Het
Brinp2	G	T	1: 158,123,155 (GRCm39)	T37K	probably benign	Het
Bsph1	T	A	7: 13,184,864 (GRCm39)	L9*	probably null	Het
C6	T	G	15: 4,784,849 (GRCm39)	N238K	probably benign	Het
Cbs	T	C	17: 31,838,130 (GRCm39)	D373G	probably damaging	Het
Clec4a3	T	C	6: 122,946,329 (GRCm39)	F191S	possibly damaging	Het
Cpz	A	G	5: 35,661,025 (GRCm39)	V530A	probably damaging	Het
Ctsc	G	T	7: 87,927,550 (GRCm39)	S47I	possibly damaging	Het
Cyp7b1	T	G	3: 18,157,960 (GRCm39)	Y53S	probably damaging	Het
Dach1	C	T	14: 98,406,184 (GRCm39)	G188R	probably damaging	Het
Defb4	T	C	8: 19,251,220 (GRCm39)	I29T	probably benign	Het
Disc1	A	T	8: 125,987,836 (GRCm39)		probably null	Het
Dnah2	A	G	11: 69,327,662 (GRCm39)	M3429T	probably damaging	Het
Dnah7a	A	T	1: 53,472,213 (GRCm39)	I3518N	possibly damaging	Het
Dnah8	A	T	17: 31,090,325 (GRCm39)	H4609L	probably damaging	Het
Evi5	C	A	5: 107,968,401 (GRCm39)	C182F	probably damaging	Het
Fam149b	G	A	14: 20,413,492 (GRCm39)	R237H	probably damaging	Het
Fut8	T	A	12: 77,440,536 (GRCm39)	D174E	possibly damaging	Het
Ghr	T	C	15: 3,370,580 (GRCm39)		probably benign	Het
Gm10801	G	C	2: 98,494,352 (GRCm39)	R143T	possibly damaging	Het
Gpr176	T	C	2: 118,110,189 (GRCm39)	S357G	probably benign	Het
Grwd1	A	T	7: 45,476,601 (GRCm39)		probably null	Het
H2-T24	A	G	17: 36,325,772 (GRCm39)	V273A	possibly damaging	Het
Hdac4	A	C	1: 91,883,760 (GRCm39)		probably benign	Het
Herc3	A	G	6: 58,895,802 (GRCm39)	T1017A	probably damaging	Het
Hsd11b1	T	C	1: 192,924,476 (GRCm39)		probably benign	Het
Igsf23	T	C	7: 19,675,678 (GRCm39)	S143G	probably benign	Het
Kbtbd12	T	A	6: 88,594,888 (GRCm39)	Y314F	probably damaging	Het
Kcnmb2	A	G	3: 32,252,508 (GRCm39)		probably null	Het
Kdm5b	A	G	1: 134,532,260 (GRCm39)	I479M	probably damaging	Het
Kidins220	A	G	12: 25,058,068 (GRCm39)	T600A	probably damaging	Het
Mrgprb2	A	C	7: 48,202,077 (GRCm39)	I216S	probably damaging	Het
Muc21	A	G	17: 35,933,614 (GRCm39)		probably benign	Het
Myo1g	A	G	11: 6,461,084 (GRCm39)		probably benign	Het
Nrxn3	T	C	12: 89,780,412 (GRCm39)		probably null	Het
Or2ag2	A	G	7: 106,485,622 (GRCm39)	V134A	probably benign	Het
Or8b54	A	T	9: 38,686,535 (GRCm39)		probably null	Het
Or8g26	A	G	9: 39,095,980 (GRCm39)	I169V	probably benign	Het
Pdia5	A	T	16: 35,284,760 (GRCm39)	S66T	possibly damaging	Het
Plec	T	C	15: 76,062,206 (GRCm39)	E2604G	probably damaging	Het
Plekha6	G	T	1: 133,209,918 (GRCm39)	A654S	probably benign	Het
Pnpla2	G	A	7: 141,039,433 (GRCm39)		probably null	Het
Pramel19	T	C	4: 101,798,781 (GRCm39)	F251L	probably benign	Het
Prb1c	T	A	6: 132,341,021 (GRCm39)	Q17L	unknown	Het
Prkdc	A	G	16: 15,554,663 (GRCm39)	D2128G	probably benign	Het
Rabggta	A	T	14: 55,958,268 (GRCm39)	L131Q	probably damaging	Het
Rbks	A	T	5: 31,781,863 (GRCm39)	Y312*	probably null	Het
Rnf139	A	G	15: 58,771,322 (GRCm39)	Y449C	probably damaging	Het
Sanbr	A	G	11: 23,567,129 (GRCm39)		probably benign	Het
Sbno1	A	G	5: 124,524,931 (GRCm39)	V1058A	possibly damaging	Het
Sema3a	A	T	5: 13,607,268 (GRCm39)	N321I	probably damaging	Het
Slit3	T	A	11: 35,469,928 (GRCm39)	V310E	probably damaging	Het
Slitrk5	T	C	14: 111,918,256 (GRCm39)	S627P	probably benign	Het
Stat2	T	A	10: 128,113,736 (GRCm39)	F172I	probably damaging	Het
Tchh	C	A	3: 93,352,923 (GRCm39)	R788S	unknown	Het
Tnks	T	A	8: 35,320,413 (GRCm39)	K753*	probably null	Het
Trank1	T	A	9: 111,194,421 (GRCm39)	V815D	probably benign	Het
Trank1	T	A	9: 111,222,008 (GRCm39)	I2915N	probably damaging	Het
Trpc6	T	C	9: 8,610,344 (GRCm39)	S271P	probably damaging	Het
Trpm5	T	C	7: 142,640,613 (GRCm39)	Q213R	probably benign	Het
Ulk3	C	T	9: 57,501,510 (GRCm39)		probably benign	Het
Usp31	T	C	7: 121,258,185 (GRCm39)	D694G	probably damaging	Het
Wnt3a	A	G	11: 59,147,144 (GRCm39)	S181P	probably damaging	Het
Yipf3	T	C	17: 46,559,238 (GRCm39)	F22S	possibly damaging	Het
Zbtb40	A	T	4: 136,713,867 (GRCm39)	H1094Q	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
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
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'- GTCCTACTCTGAGCACAAGCCATC -3'
(R):5'- GGAGTTTCAGGCCAAACCCCTTTC -3'

Sequencing Primer
(F):5'- TGTCTTCCAGTGGAACGC -3'
(R):5'- TCTCATGTCTGAGGCCCC -3'

Posted On

2013-04-16