Incidental Mutation 'R5350:Bmp8a'
ID 423740
Institutional Source Beutler Lab
Gene Symbol Bmp8a
Ensembl Gene ENSMUSG00000032726
Gene Name bone morphogenetic protein 8a
Synonyms osteogenic protein 2, Bmp7r1, OP2
MMRRC Submission 042929-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.139) question?
Stock # R5350 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 123206438-123237045 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 123207088 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 391 (M391K)
Ref Sequence ENSEMBL: ENSMUSP00000099701 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040496] [ENSMUST00000102641]
AlphaFold P34821
Predicted Effect probably damaging
Transcript: ENSMUST00000040496
AA Change: M404K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037779
Gene: ENSMUSG00000032726
AA Change: M404K

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000102641
AA Change: M391K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099701
Gene: ENSMUSG00000032726
AA Change: M391K

DomainStartEndE-ValueType
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: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 96.0%
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. 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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 G A 11: 110,210,622 (GRCm39) Q186* probably null Het
Abca9 A G 11: 110,006,364 (GRCm39) V1247A probably benign Het
Acaca A T 11: 84,106,699 (GRCm39) M133L probably damaging Het
Acacb C T 5: 114,382,612 (GRCm39) A2100V probably damaging Het
Adamts16 T A 13: 70,901,315 (GRCm39) K921* probably null Het
Ankrd55 T G 13: 112,472,760 (GRCm39) V144G probably damaging Het
Arap3 A G 18: 38,115,088 (GRCm39) L976P probably damaging Het
Atg2a T A 19: 6,301,368 (GRCm39) V814E probably damaging Het
Atp2b2 A T 6: 113,736,199 (GRCm39) M960K probably damaging Het
Bag1 C T 4: 40,948,007 (GRCm39) G66S possibly damaging Het
Capns1 C A 7: 29,889,551 (GRCm39) R216L probably damaging Het
Cdk13 T C 13: 17,978,515 (GRCm39) probably benign Het
Cmtm3 T C 8: 105,070,465 (GRCm39) F75L probably damaging Het
Cops4 T A 5: 100,666,405 (GRCm39) D21E possibly damaging Het
Dach1 G T 14: 98,207,395 (GRCm39) A318E probably damaging Het
Ddx27 A G 2: 166,869,780 (GRCm39) probably benign Het
Disp2 A G 2: 118,618,056 (GRCm39) T201A probably benign Het
Dnah2 G T 11: 69,406,862 (GRCm39) D214E possibly damaging Het
Dnah7b G T 1: 46,272,849 (GRCm39) G2326C probably benign Het
Dusp5 T C 19: 53,529,665 (GRCm39) F356S probably damaging Het
Duxf3 C A 10: 58,066,915 (GRCm39) S528I probably damaging Het
Ell T A 8: 70,992,439 (GRCm39) V28E probably damaging Het
Evi5 C T 5: 107,963,544 (GRCm39) D344N probably benign Het
Fv1 G T 4: 147,954,546 (GRCm39) V371L possibly damaging Het
Gemin5 A G 11: 58,032,412 (GRCm39) probably null Het
Glce A T 9: 61,967,587 (GRCm39) Y521* probably null Het
Grn T A 11: 102,327,070 (GRCm39) L556Q possibly damaging Het
Icam1 C A 9: 20,939,182 (GRCm39) Y518* probably null Het
Jag2 A T 12: 112,872,542 (GRCm39) S1237R possibly damaging Het
Macf1 A T 4: 123,421,251 (GRCm39) M1K probably null Het
Nbea T C 3: 55,926,845 (GRCm39) E786G probably damaging Het
Nr4a2 A G 2: 57,001,877 (GRCm39) M192T probably damaging Het
Or2v2 T C 11: 49,003,879 (GRCm39) T225A probably benign Het
Or4a73 T A 2: 89,421,432 (GRCm39) E9V possibly damaging Het
Or52s1b T A 7: 102,822,766 (GRCm39) H26L probably damaging Het
Or7e169 A T 9: 19,757,912 (GRCm39) M1K probably null Het
Pcnx4 A C 12: 72,626,138 (GRCm39) N1115H probably damaging Het
Ppargc1b A G 18: 61,442,134 (GRCm39) S585P possibly damaging Het
Ppip5k2 C T 1: 97,648,853 (GRCm39) S1024N probably damaging Het
Prkar1b C T 5: 139,092,383 (GRCm39) E145K probably damaging Het
Psd3 T A 8: 68,361,513 (GRCm39) T539S probably benign Het
Rit2 A G 18: 31,449,905 (GRCm39) V31A probably damaging Het
Rps6kc1 G A 1: 190,531,663 (GRCm39) P780S probably benign Het
Serpina6 G T 12: 103,614,838 (GRCm39) T336K possibly damaging Het
Smo A T 6: 29,754,466 (GRCm39) Q232L probably benign Het
Stx2 T C 5: 129,068,155 (GRCm39) D184G probably damaging Het
Tmprss11d T C 5: 86,486,746 (GRCm39) Y48C probably benign Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Other mutations in Bmp8a
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TTTAGCAGGAAGTGGCCAGG -3'
(R):5'- GGGGCTTAGTCCTTCTGGAAAG -3'

Sequencing Primer
(F):5'- GGGAAGTGAAGGGCCTCC -3'
(R):5'- CTTTGAGGAGGATACCAGGTTCAC -3'
Posted On 2016-08-04