Mutagenetix > Incidental Mutation

Incidental Mutation 'R8266:Bmp8a'

639611

Institutional Source

Beutler Lab

Gene Symbol

Bmp8a

Ensembl Gene

ENSMUSG00000032726

Gene Name

bone morphogenetic protein 8a

Synonyms

osteogenic protein 2, Bmp7r1, OP2

MMRRC Submission

067691-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

R8266 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123206438-123237045 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 123209626 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 354 (T354I)

Ref Sequence

ENSEMBL: ENSMUSP00000037779 (fasta)

Gene Model

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

AlphaFold

P34821

Predicted Effect

probably benign
Transcript: ENSMUST00000040496
AA Change: T354I

PolyPhen 2 Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000037779
Gene: ENSMUSG00000032726
AA Change: T354I

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: ENSMUST00000102641

SMART Domains

Protein: ENSMUSP00000099701
Gene: ENSMUSG00000032726

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

97% (57/59)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	T	A	2: 30,691,254 (GRCm39)	N106Y	possibly damaging	Het
A630073D07Rik	C	T	6: 132,604,380 (GRCm39)	D22N	probably null	Het
Abcf2	CAT	CATAAT	5: 24,781,589 (GRCm39)		probably benign	Het
Ago3	T	A	4: 126,270,721 (GRCm39)	K258*	probably null	Het
AW146154	G	A	7: 41,130,592 (GRCm39)	R175*	probably null	Het
C7	T	A	15: 5,037,141 (GRCm39)	D579V	probably damaging	Het
Cacna1a	A	G	8: 85,285,848 (GRCm39)	N831S	probably damaging	Het
Ccpg1	G	A	9: 72,913,001 (GRCm39)	R179H	probably damaging	Het
Cep290	A	G	10: 100,395,533 (GRCm39)	K2114E	probably benign	Het
Cfap20dc	G	A	14: 8,482,599 (GRCm38)	Q525*	probably null	Het
Chrnb1	T	C	11: 69,675,447 (GRCm39)	*502W	probably null	Het
Col16a1	G	A	4: 129,959,224 (GRCm39)	V657M	unknown	Het
Crem	A	T	18: 3,309,535 (GRCm39)		probably benign	Het
Cyp3a25	A	T	5: 145,929,796 (GRCm39)	V191E	probably damaging	Het
Dmxl1	T	C	18: 49,976,878 (GRCm39)	I80T	probably benign	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Exoc6	A	G	19: 37,565,497 (GRCm39)	D191G	probably benign	Het
F5	G	T	1: 164,012,693 (GRCm39)		probably null	Het
Foxf2	AGCCTCCTTACTCG	AGCCTCCTTACTCGCCTCCTTACTCG	13: 31,810,361 (GRCm39)		probably benign	Het
Fuca2	T	A	10: 13,388,633 (GRCm39)		probably benign	Het
Gm13102	A	T	4: 143,835,682 (GRCm39)	D450V	probably damaging	Het
Gm527	T	C	12: 64,967,719 (GRCm39)	L47P	probably damaging	Het
Gm5849	T	C	3: 90,685,158 (GRCm39)	E9G	probably damaging	Het
Grik1	A	G	16: 87,744,867 (GRCm39)	Y376H	probably benign	Het
Hrob	T	A	11: 102,153,046 (GRCm39)	V569E	possibly damaging	Het
Isl2	A	G	9: 55,451,408 (GRCm39)	Q187R	probably benign	Het
Kat6b	C	T	14: 21,566,913 (GRCm39)		probably benign	Het
Lpar3	C	T	3: 145,946,385 (GRCm39)	T21I	probably benign	Het
Map4k4	A	G	1: 40,050,813 (GRCm39)	T759A	possibly damaging	Het
Map7d1	G	A	4: 126,132,353 (GRCm39)	S273L	probably damaging	Het
Mcm3ap	A	T	10: 76,312,414 (GRCm39)	K498*	probably null	Het
Med13l	T	G	5: 118,880,174 (GRCm39)	S1089A	probably damaging	Het
Mybphl	T	C	3: 108,284,676 (GRCm39)	Y308H	probably damaging	Het
Or2o1	T	A	11: 49,051,352 (GRCm39)	Y170*	probably null	Het
Or51ai2	T	C	7: 103,586,746 (GRCm39)	V53A	probably damaging	Het
Pde6a	T	A	18: 61,391,284 (GRCm39)	V543E	probably damaging	Het
Pdilt	C	T	7: 119,088,604 (GRCm39)	D466N	probably benign	Het
Pole	T	C	5: 110,442,786 (GRCm39)	V313A	probably damaging	Het
Ppfia1	T	C	7: 144,068,231 (GRCm39)	R439G	possibly damaging	Het
Reg1	T	A	6: 78,404,342 (GRCm39)	V72E	possibly damaging	Het
Reln	T	A	5: 22,223,085 (GRCm39)	I983F	possibly damaging	Het
Rnft2	T	A	5: 118,375,623 (GRCm39)	D42V	possibly damaging	Het
Rps6ka1	A	G	4: 133,590,995 (GRCm39)	Y350H	probably damaging	Het
Sec61a2	A	G	2: 5,881,650 (GRCm39)		probably null	Het
Septin2	T	C	1: 93,429,248 (GRCm39)	V239A	possibly damaging	Het
Sigirr	T	C	7: 140,671,662 (GRCm39)	T374A	unknown	Het
Six4	T	A	12: 73,155,423 (GRCm39)	I507F	possibly damaging	Het
Ska1	T	C	18: 74,337,412 (GRCm39)	I45V	probably benign	Het
Spink2	T	G	5: 77,359,213 (GRCm39)	R3S	unknown	Het
Stox2	C	T	8: 47,645,060 (GRCm39)	G800D	probably damaging	Het
Tmem121b	T	C	6: 120,469,193 (GRCm39)	E508G	probably damaging	Het
Tmx4	T	C	2: 134,481,461 (GRCm39)	Y154C	unknown	Het
Usp34	T	A	11: 23,436,810 (GRCm39)		probably benign	Het
Vmn2r27	A	G	6: 124,168,937 (GRCm39)	V731A	probably benign	Het
Wdr72	A	T	9: 74,050,774 (GRCm39)	M89L	probably damaging	Het
Xirp2	A	T	2: 67,338,918 (GRCm39)	K386N	probably damaging	Het
Zfp113	C	T	5: 138,148,881 (GRCm39)	V88M	probably damaging	Het
Zfp609	G	T	9: 65,610,996 (GRCm39)	R656S	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
R2215:Bmp8a	UTSW	4	123,218,911 (GRCm39)	missense	probably benign	0.03
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
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'- CTCATTGTGATCACAGGGGC -3'
(R):5'- ACAATGGTCTTGGAAGGACGTTG -3'

Sequencing Primer
(F):5'- GCGTGTCAATCTGGGTCCTATC -3'
(R):5'- AAGGACGTTGATGTGACTCCTCTC -3'

Posted On

2020-07-28