Mutagenetix > Incidental Mutation

Incidental Mutation 'R4777:Bmp8b'

368007

Institutional Source

Beutler Lab

Gene Symbol

Bmp8b

Ensembl Gene

ENSMUSG00000002384

Gene Name

bone morphogenetic protein 8b

Synonyms

Op3

MMRRC Submission

041992-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.174) question?

Stock #

R4777 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

122998101-123019887 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 123015793 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 260 (R260Q)

Ref Sequence

ENSEMBL: ENSMUSP00000002457 (fasta)

Gene Model

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

AlphaFold

P55105

Predicted Effect

possibly damaging
Transcript: ENSMUST00000002457
AA Change: R260Q

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000002457
Gene: ENSMUSG00000002384
AA Change: R260Q

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.7%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	C	3: 137,771,503 (GRCm39)	S231R	probably benign	Het
5730455P16Rik	A	T	11: 80,265,041 (GRCm39)	I137N	probably damaging	Het
Abhd10	G	A	16: 45,557,279 (GRCm39)	Q176*	probably null	Het
Acer3	T	C	7: 97,910,804 (GRCm39)	Y86C	probably damaging	Het
Ankrd36	T	C	11: 5,557,120 (GRCm39)	V356A	probably benign	Het
Atp1a1	A	G	3: 101,502,312 (GRCm39)		probably null	Het
C2cd3	T	A	7: 100,065,539 (GRCm39)	V775D	possibly damaging	Het
Cacna1b	T	A	2: 24,622,337 (GRCm39)	I216F	probably damaging	Het
Capn5	T	A	7: 97,780,925 (GRCm39)	N284I	probably damaging	Het
Cbr1	C	A	16: 93,406,942 (GRCm39)	D219E	probably benign	Het
Cdca2	C	T	14: 67,950,589 (GRCm39)	R114Q	probably damaging	Het
Cdh20	G	A	1: 109,922,055 (GRCm39)	W49*	probably null	Het
Cep152	C	T	2: 125,406,015 (GRCm39)	V1506I	probably benign	Het
Cfap97	C	T	8: 46,648,334 (GRCm39)	Q537*	probably null	Het
Cpsf2	T	A	12: 101,963,091 (GRCm39)	V385E	probably damaging	Het
Dse	A	G	10: 34,029,584 (GRCm39)	V502A	possibly damaging	Het
Fam171a1	T	A	2: 3,224,550 (GRCm39)	F300L	probably benign	Het
Fnip1	T	G	11: 54,391,382 (GRCm39)	N438K	probably damaging	Het
Fstl5	C	T	3: 76,500,807 (GRCm39)	T412M	probably damaging	Het
Gm11938	T	A	11: 99,494,059 (GRCm39)	Q12L	unknown	Het
Hcls1	G	T	16: 36,775,678 (GRCm39)	A171S	probably damaging	Het
Hcn1	ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ACAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	13: 118,112,269 (GRCm39)		probably benign	Het
Hydin	G	T	8: 111,137,096 (GRCm39)	C633F	probably damaging	Het
Ica1	A	T	6: 8,644,145 (GRCm39)	D381E	probably benign	Het
Ift74	A	G	4: 94,541,234 (GRCm39)	K220E	probably benign	Het
Igfn1	A	T	1: 135,882,600 (GRCm39)	D2748E	probably benign	Het
Il16	A	C	7: 83,300,104 (GRCm39)	D396E	probably benign	Het
Impdh1	G	T	6: 29,205,201 (GRCm39)	A200E	possibly damaging	Het
Itga4	C	T	2: 79,144,054 (GRCm39)	T647I	possibly damaging	Het
Jpt1	A	T	11: 115,391,497 (GRCm39)	M104K	probably benign	Het
Krt73	C	A	15: 101,702,436 (GRCm39)	A476S	probably benign	Het
Lama3	T	C	18: 12,546,828 (GRCm39)	Y363H	probably damaging	Het
Lgr4	C	T	2: 109,827,027 (GRCm39)	P177L	probably damaging	Het
Lrp2	T	C	2: 69,312,608 (GRCm39)	D2560G	probably damaging	Het
Ly6m	T	C	15: 74,752,532 (GRCm39)	N48S	probably benign	Het
Macf1	A	T	4: 123,270,295 (GRCm39)	F6617I	probably damaging	Het
Mcf2l	T	A	8: 13,068,051 (GRCm39)		probably null	Het
Mcub	T	A	3: 129,763,600 (GRCm39)	Q42L	probably damaging	Het
Mfsd9	C	T	1: 40,820,700 (GRCm39)	V150I	possibly damaging	Het
Myo15b	T	C	11: 115,770,478 (GRCm39)	V96A	probably damaging	Het
Nfkb2	G	T	19: 46,296,006 (GRCm39)	E170D	probably benign	Het
Or10aa3	T	G	1: 173,878,244 (GRCm39)	Y102D	probably damaging	Het
Or10g6	T	C	9: 39,933,994 (GRCm39)	F102L	possibly damaging	Het
Or1r1	A	G	11: 73,875,221 (GRCm39)	V71A	probably benign	Het
Pgap6	T	C	17: 26,340,515 (GRCm39)	V633A	probably damaging	Het
Pinlyp	T	A	7: 24,241,568 (GRCm39)	I153F	possibly damaging	Het
Plk2	A	C	13: 110,534,307 (GRCm39)	M296L	probably benign	Het
Plvap	T	C	8: 71,960,630 (GRCm39)	Y262C	probably benign	Het
Ppfia3	C	A	7: 44,990,581 (GRCm39)	G1066V	probably damaging	Het
Prokr1	A	G	6: 87,565,842 (GRCm39)	M1T	probably null	Het
Ptgs2	G	T	1: 149,981,138 (GRCm39)	A474S	probably benign	Het
Pth2r	A	G	1: 65,427,676 (GRCm39)	T450A	possibly damaging	Het
Ranbp6	A	T	19: 29,789,037 (GRCm39)	F438L	probably damaging	Het
Ripor1	A	T	8: 106,341,622 (GRCm39)	Q102L	probably damaging	Het
Rprd2	C	T	3: 95,694,686 (GRCm39)	V116I	probably benign	Het
Sacs	T	C	14: 61,449,258 (GRCm39)	V3768A	probably damaging	Het
Scn8a	T	C	15: 100,913,832 (GRCm39)	Y1075H	probably damaging	Het
Senp3	C	T	11: 69,569,063 (GRCm39)	G366D	probably damaging	Het
Smim1	T	C	4: 154,108,107 (GRCm39)		probably benign	Het
Sptan1	A	G	2: 29,886,447 (GRCm39)	I817V	probably damaging	Het
Stag3	A	T	5: 138,307,461 (GRCm39)		probably benign	Het
Stk17b	A	T	1: 53,810,867 (GRCm39)	H79Q	probably damaging	Het
Svil	A	G	18: 5,088,813 (GRCm39)	K1296E	probably damaging	Het
Tmem117	T	A	15: 94,992,331 (GRCm39)	Y330*	probably null	Het
Tnxb	G	T	17: 34,890,917 (GRCm39)	R420L	probably damaging	Het
Trim9	C	A	12: 70,393,845 (GRCm39)	C33F	probably damaging	Het
Usp29	A	C	7: 6,965,747 (GRCm39)	Y530S	probably benign	Het
Vps26b	T	C	9: 26,921,752 (GRCm39)	T258A	possibly damaging	Het
Vrtn	C	A	12: 84,695,600 (GRCm39)	H117N	probably damaging	Het
Wdr33	C	T	18: 32,014,301 (GRCm39)	H388Y	probably damaging	Het
Zfp451	A	T	1: 33,821,186 (GRCm39)	V222D	possibly damaging	Het
Zfp953	A	G	13: 67,491,193 (GRCm39)	I253T	probably benign	Het
Zfy2	A	G	Y: 2,116,194 (GRCm39)	V282A	probably benign	Het
Zscan29	A	T	2: 120,999,805 (GRCm39)	V132D	probably damaging	Het
Zswim4	G	T	8: 84,963,586 (GRCm39)	D16E	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
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
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'- GGTTCATAGGTGTCATGCCAC -3'
(R):5'- GCTTTCCTCTGCAGACTGTTGG -3'

Sequencing Primer
(F):5'- GTGTCATGCCACCATCCAC -3'
(R):5'- AGACTGTTGGTTGCAGCCC -3'

Posted On

2015-12-29