Mutagenetix > Incidental Mutation

Incidental Mutation 'R2215:Bmp8a'

241076

Institutional Source

Beutler Lab

Gene Symbol

Bmp8a

Ensembl Gene

ENSMUSG00000032726

Gene Name

bone morphogenetic protein 8a

Synonyms

osteogenic protein 2, Bmp7r1, OP2

MMRRC Submission

040217-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R2215 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

123206438-123237045 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 123218911 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 166 (V166I)

Ref Sequence

ENSEMBL: ENSMUSP00000099701 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040496] [ENSMUST00000102640] [ENSMUST00000102641]

AlphaFold

P34821

Predicted Effect

probably benign
Transcript: ENSMUST00000040496
AA Change: V166I

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000037779
Gene: ENSMUSG00000032726
AA Change: V166I

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:TGFb_propeptide	27	248	3.1e-67	PFAM
low complexity region	250	271	N/A	INTRINSIC
TGFB	298	412	2.18e-60	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102640

SMART Domains

Protein: ENSMUSP00000099700
Gene: ENSMUSG00000076436

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
low complexity region	18	31	N/A	INTRINSIC
CoA_trans	43	272	2.17e-79	SMART
CoA_trans	301	499	5.07e-71	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102641
AA Change: V166I

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000099701
Gene: ENSMUSG00000032726
AA Change: V166I

Domain	Start	End	E-Value	Type
Pfam:TGFb_propeptide	11	248	2e-57	PFAM
low complexity region	250	271	N/A	INTRINSIC
TGFB	298	399	2e-68	SMART

Meta Mutation Damage Score

0.1137

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (68/68)

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. This protein may play a role in development of the reproductive system. Mice lacking a functional copy of this gene exhibit degeneration of germ cells and the epididymal epithelium. 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: About half of the males homozygous for targeted mutations of this gene show spermatogenesis defects and germ cell degeneration. [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
Acaca	T	A	11: 84,254,619 (GRCm39)	S1899T	probably damaging	Het
Accs	G	T	2: 93,672,243 (GRCm39)	N208K	probably benign	Het
Actn4	C	A	7: 28,618,178 (GRCm39)	V22L	possibly damaging	Het
Adam21	A	G	12: 81,607,064 (GRCm39)	S233P	probably damaging	Het
Adrm1b	G	A	3: 92,335,730 (GRCm39)	A324V	probably damaging	Het
Agmat	C	T	4: 141,476,899 (GRCm39)	R102C	probably benign	Het
Akap8l	T	C	17: 32,540,569 (GRCm39)	E608G	possibly damaging	Het
Arap2	T	C	5: 62,834,519 (GRCm39)	I788V	probably damaging	Het
Arhgef12	G	T	9: 42,917,167 (GRCm39)	H391N	probably damaging	Het
Arhgef28	G	T	13: 98,187,529 (GRCm39)	H255Q	possibly damaging	Het
Baz1a	G	A	12: 55,022,154 (GRCm39)	R43*	probably null	Het
Bcas3	T	C	11: 85,692,769 (GRCm39)	S862P	probably damaging	Het
Blm	A	T	7: 80,149,595 (GRCm39)	H671Q	possibly damaging	Het
Cep120	G	T	18: 53,860,707 (GRCm39)	P241Q	probably damaging	Het
Col14a1	G	A	15: 55,244,238 (GRCm39)	G437E	unknown	Het
Cyp2a5	T	C	7: 26,539,900 (GRCm39)	L3S	probably damaging	Het
D16Ertd472e	T	C	16: 78,342,155 (GRCm39)	T242A	probably benign	Het
Dach1	A	G	14: 98,405,917 (GRCm39)		probably null	Het
Ddx20	A	T	3: 105,587,656 (GRCm39)		probably benign	Het
Eif4enif1	A	G	11: 3,177,476 (GRCm39)	S185G	probably damaging	Het
Ep400	A	T	5: 110,841,421 (GRCm39)		probably benign	Het
Fam117b	T	A	1: 60,008,219 (GRCm39)	I351K	probably damaging	Het
Fbxo31	T	C	8: 122,293,050 (GRCm39)	I112V	probably benign	Het
Galntl5	A	T	5: 25,403,476 (GRCm39)	N149I	probably damaging	Het
Gja8	A	T	3: 96,827,218 (GRCm39)	F148Y	probably damaging	Het
Gpatch1	A	T	7: 34,993,252 (GRCm39)	L531Q	possibly damaging	Het
Gprin1	G	A	13: 54,888,046 (GRCm39)	T76M	probably damaging	Het
Htr4	T	A	18: 62,546,787 (GRCm39)	C113*	probably null	Het
Igf1r	T	A	7: 67,814,982 (GRCm39)	D294E	probably benign	Het
Kdm6b	G	A	11: 69,295,870 (GRCm39)	P799L	unknown	Het
Lat	A	T	7: 125,967,137 (GRCm39)	V139E	probably damaging	Het
Lrrc34	G	A	3: 30,697,678 (GRCm39)	R51C	probably benign	Het
Map3k1	A	G	13: 111,892,322 (GRCm39)	S978P	probably benign	Het
Masp1	T	A	16: 23,271,271 (GRCm39)	D659V	possibly damaging	Het
Mcam	A	T	9: 44,051,250 (GRCm39)	R415*	probably null	Het
Mtmr10	A	G	7: 63,987,403 (GRCm39)	T648A	probably benign	Het
Myh2	T	C	11: 67,082,563 (GRCm39)	W1378R	probably benign	Het
Nipsnap2	A	G	5: 129,816,649 (GRCm39)	E64G	probably damaging	Het
Or4a68	T	C	2: 89,270,381 (GRCm39)	M81V	probably benign	Het
Or52n4b	T	C	7: 108,144,095 (GRCm39)	L119P	probably damaging	Het
Or6c3	A	T	10: 129,309,289 (GRCm39)	I243F	probably damaging	Het
Or9s27	G	A	1: 92,516,708 (GRCm39)	V219I	probably benign	Het
Pcdhb8	T	G	18: 37,490,127 (GRCm39)	S602A	probably damaging	Het
Peg10	A	T	6: 4,756,918 (GRCm39)		probably benign	Het
Pld1	A	T	3: 28,132,542 (GRCm39)	I577F	probably benign	Het
Plekhm1	A	T	11: 103,267,811 (GRCm39)	I720N	probably damaging	Het
Ppp2r1a	A	G	17: 21,182,005 (GRCm39)		probably null	Het
Retreg3	G	T	11: 101,010,459 (GRCm39)	Y49*	probably null	Het
Rrp36	T	C	17: 46,983,746 (GRCm39)	E22G	possibly damaging	Het
Sec14l2	C	A	11: 4,059,169 (GRCm39)	A167S	probably damaging	Het
Sema5b	A	G	16: 35,480,585 (GRCm39)	T751A	probably damaging	Het
Smarcc1	C	A	9: 110,066,907 (GRCm39)		probably benign	Het
Smox	T	C	2: 131,362,190 (GRCm39)		probably null	Het
Spats2l	A	T	1: 57,985,575 (GRCm39)	T543S	possibly damaging	Het
Sppl2a	G	T	2: 126,769,754 (GRCm39)	T34K	probably benign	Het
Svep1	T	C	4: 58,138,602 (GRCm39)		probably benign	Het
Tet2	T	A	3: 133,192,362 (GRCm39)	I691F	probably benign	Het
Tnxb	T	C	17: 34,923,114 (GRCm39)	Y2566H	possibly damaging	Het
Ttn	T	C	2: 76,570,853 (GRCm39)	E26680G	probably damaging	Het
Txlna	T	C	4: 129,533,111 (GRCm39)	E139G	possibly damaging	Het
Ubap2	T	C	4: 41,196,483 (GRCm39)		probably null	Het
Ubr3	A	T	2: 69,809,661 (GRCm39)		probably null	Het
Usp37	A	C	1: 74,483,685 (GRCm39)	F844V	probably damaging	Het
Usp6nl	A	G	2: 6,429,150 (GRCm39)	D204G	probably damaging	Het
Vmn1r230	T	C	17: 21,067,684 (GRCm39)	I291T	probably benign	Het
Zfp229	T	G	17: 21,965,258 (GRCm39)	V496G	possibly damaging	Het

Other mutations in Bmp8a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01362:Bmp8a	APN	4	123,207,094 (GRCm39)	missense	probably damaging	1.00
IGL01816:Bmp8a	APN	4	123,210,190 (GRCm39)	missense	probably damaging	1.00
IGL02423:Bmp8a	APN	4	123,210,220 (GRCm39)	missense	possibly damaging	0.75
leanmean	UTSW	4	123,207,094 (GRCm39)	missense	probably damaging	1.00
R0437:Bmp8a	UTSW	4	123,210,690 (GRCm39)	missense	probably benign	0.28
R0540:Bmp8a	UTSW	4	123,209,723 (GRCm39)	missense	probably damaging	1.00
R1443:Bmp8a	UTSW	4	123,210,758 (GRCm39)	missense	possibly damaging	0.89
R1791:Bmp8a	UTSW	4	123,218,378 (GRCm39)	missense	possibly damaging	0.91
R1832:Bmp8a	UTSW	4	123,218,885 (GRCm39)	splice site	probably benign
R4502:Bmp8a	UTSW	4	123,236,192 (GRCm39)	missense	probably damaging	1.00
R4803:Bmp8a	UTSW	4	123,218,362 (GRCm39)	missense	possibly damaging	0.94
R5179:Bmp8a	UTSW	4	123,207,094 (GRCm39)	missense	probably damaging	1.00
R5350:Bmp8a	UTSW	4	123,207,088 (GRCm39)	missense	probably damaging	1.00
R6166:Bmp8a	UTSW	4	123,218,471 (GRCm39)	missense	probably benign	0.03
R6853:Bmp8a	UTSW	4	123,236,476 (GRCm39)	missense	unknown
R6982:Bmp8a	UTSW	4	123,218,934 (GRCm39)	missense	probably damaging	1.00
R7304:Bmp8a	UTSW	4	123,236,182 (GRCm39)	missense	probably benign	0.44
R8266:Bmp8a	UTSW	4	123,209,626 (GRCm39)	missense	probably benign	0.20
R8377:Bmp8a	UTSW	4	123,236,482 (GRCm39)	missense	unknown
R8396:Bmp8a	UTSW	4	123,218,952 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTCAGTGCTGTGACCTAGTG -3'
(R):5'- CTTTGTCTTCCAGTGGAACGC -3'

Sequencing Primer
(F):5'- GTGACAGGGCAGGAGTTCC -3'
(R):5'- CGACCGTACCCTGGGCTAC -3'

Posted On

2014-10-15