Incidental Mutation 'R6982:Bmp8a'
ID 542720
Institutional Source Beutler Lab
Gene Symbol Bmp8a
Ensembl Gene ENSMUSG00000032726
Gene Name bone morphogenetic protein 8a
Synonyms osteogenic protein 2, Bmp7r1, OP2
MMRRC Submission 045383-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.139) question?
Stock # R6982 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 123206438-123237045 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 123218934 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 158 (L158P)
Ref Sequence ENSEMBL: ENSMUSP00000099701 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040496] [ENSMUST00000102640] [ENSMUST00000102641]
AlphaFold P34821
Predicted Effect probably damaging
Transcript: ENSMUST00000040496
AA Change: L158P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037779
Gene: ENSMUSG00000032726
AA Change: L158P

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 benign
Transcript: ENSMUST00000102640
SMART Domains Protein: ENSMUSP00000099700
Gene: ENSMUSG00000076436

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000102641
AA Change: L158P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099701
Gene: ENSMUSG00000032726
AA Change: L158P

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 96.7%
Validation Efficiency 98% (55/56)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 T A 13: 70,916,639 (GRCm39) probably null Het
Adamtsl3 C A 7: 82,164,271 (GRCm39) P362H probably damaging Het
Ambra1 G A 2: 91,747,818 (GRCm39) V1065I probably damaging Het
Ankrd66 T C 17: 43,849,926 (GRCm39) T79A probably damaging Het
Ano2 G A 6: 125,969,856 (GRCm39) R724H probably benign Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Cilp T C 9: 65,187,087 (GRCm39) Y1061H probably damaging Het
Clybl G A 14: 122,639,359 (GRCm39) G308R probably damaging Het
Cntnap5c C T 17: 58,399,247 (GRCm39) P367S possibly damaging Het
Col20a1 T C 2: 180,638,499 (GRCm39) V371A probably benign Het
Col24a1 G T 3: 145,020,807 (GRCm39) G393* probably null Het
Dnah12 A G 14: 26,521,033 (GRCm39) probably null Het
Dnah8 T A 17: 30,986,899 (GRCm39) S3183T probably benign Het
Dph2 A T 4: 117,746,993 (GRCm39) I435N probably benign Het
Fam3c G T 6: 22,322,300 (GRCm39) A107D probably damaging Het
Fezf2 G T 14: 12,343,645 (GRCm38) Q367K probably damaging Het
Gbp2 A G 3: 142,335,846 (GRCm39) D182G probably damaging Het
Gpr162 T A 6: 124,837,919 (GRCm39) I244F probably damaging Het
Jakmip1 A T 5: 37,282,285 (GRCm39) N159I probably damaging Het
Jkampl A T 6: 73,446,527 (GRCm39) Y7* probably null Het
Kdm4a A T 4: 118,010,636 (GRCm39) probably null Het
Klf5 A G 14: 99,550,671 (GRCm39) H416R probably damaging Het
Lrrc63 A G 14: 75,322,211 (GRCm39) V631A probably benign Het
Man1a T C 10: 53,950,819 (GRCm39) E101G possibly damaging Het
Msantd4 T A 9: 4,384,061 (GRCm39) N127K possibly damaging Het
Myo3b A T 2: 70,256,409 (GRCm39) E1248D probably benign Het
Ncapd2 A T 6: 125,153,699 (GRCm39) I672N probably damaging Het
Nfic T C 10: 81,256,634 (GRCm39) probably null Het
Nr1h3 A G 2: 91,021,104 (GRCm39) S228P probably damaging Het
Or8g32 T C 9: 39,305,618 (GRCm39) I174T probably damaging Het
Pccb A T 9: 100,905,349 (GRCm39) probably null Het
Pcmtd1 T G 1: 7,217,906 (GRCm39) V118G probably damaging Het
Pkhd1l1 A T 15: 44,429,664 (GRCm39) N3294I probably damaging Het
Plscr4 A G 9: 92,364,796 (GRCm39) T74A probably benign Het
Rasa2 A T 9: 96,442,803 (GRCm39) I540N probably damaging Het
Serpina3j C A 12: 104,283,556 (GRCm39) T218K probably benign Het
Slc16a4 A G 3: 107,206,589 (GRCm39) D173G probably benign Het
Slc19a2 T C 1: 164,084,428 (GRCm39) L106P possibly damaging Het
Slc22a19 C T 19: 7,660,334 (GRCm39) V359M probably benign Het
Slc22a7 T A 17: 46,745,563 (GRCm39) M323L probably benign Het
Spata21 A T 4: 140,824,184 (GRCm39) N149I possibly damaging Het
Spink5 G A 18: 44,110,792 (GRCm39) G121D probably damaging Het
Spink5 T C 18: 44,143,109 (GRCm39) probably null Het
Ssbp4 T C 8: 71,060,815 (GRCm39) S6G possibly damaging Het
Sytl2 T C 7: 90,045,772 (GRCm39) S641P probably damaging Het
Tcf3 A T 10: 80,253,384 (GRCm39) F215I probably damaging Het
Tmem150c C A 5: 100,240,680 (GRCm39) D61Y probably benign Het
Ttc7 T A 17: 87,614,437 (GRCm39) F201I probably damaging Het
Tyw3 T C 3: 154,285,867 (GRCm39) I208V probably benign Het
Vmn1r202 T C 13: 22,685,917 (GRCm39) T167A probably benign Het
Vmn1r83 A T 7: 12,055,763 (GRCm39) L98Q probably damaging Het
Vmn2r95 T C 17: 18,672,323 (GRCm39) Y687H probably damaging Het
Wdr59 A T 8: 112,187,445 (GRCm39) F783L probably benign Het
Zfhx4 A G 3: 5,468,890 (GRCm39) Y3016C probably damaging Het
Zfp518b T C 5: 38,830,248 (GRCm39) T586A probably benign 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
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
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'- AGGCCAAACCCCTTTCTCATG -3'
(R):5'- GCCTGTGTGTAGAGAAAGCATG -3'

Sequencing Primer
(F):5'- TCATGTCTGAGGCCCCTC -3'
(R):5'- GGTCCTACTCTGAGCACAAG -3'
Posted On 2018-11-28