Incidental Mutation 'R1443:Bmp8a'
ID158633
Institutional Source Beutler Lab
Gene Symbol Bmp8a
Ensembl Gene ENSMUSG00000032726
Gene Namebone morphogenetic protein 8a
Synonymsosteogenic protein 2, OP2, Bmp7r1
MMRRC Submission 039498-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.194) question?
Stock #R1443 (G1)
Quality Score225
Status Not validated
Chromosome4
Chromosomal Location123312645-123343252 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 123316965 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 252 (S252R)
Ref Sequence ENSEMBL: ENSMUSP00000099701 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040496] [ENSMUST00000102640] [ENSMUST00000102641]
Predicted Effect possibly damaging
Transcript: ENSMUST00000040496
AA Change: S252R

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000037779
Gene: ENSMUSG00000032726
AA Change: S252R

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 possibly damaging
Transcript: ENSMUST00000102641
AA Change: S252R

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000099701
Gene: ENSMUSG00000032726
AA Change: S252R

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: 98.8%
  • 3x: 97.7%
  • 10x: 94.2%
  • 20x: 85.7%
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. 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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik T A 11: 78,262,798 S56R probably damaging Het
Actr8 A G 14: 29,984,099 M99V possibly damaging Het
Adamtsl2 T A 2: 27,103,066 C703S possibly damaging Het
Afap1 G T 5: 35,968,661 K333N probably damaging Het
Aldh3a2 G A 11: 61,264,307 S137L probably damaging Het
Alkbh2 C T 5: 114,124,226 E148K probably damaging Het
Aoc1 A T 6: 48,905,445 K107M possibly damaging Het
C7 T C 15: 5,059,419 I13M probably benign Het
Cblb T A 16: 52,139,611 D322E possibly damaging Het
Cfap54 G A 10: 92,932,721 T180I probably damaging Het
Clrn2 C T 5: 45,460,111 A108V probably damaging Het
Cspg4 T A 9: 56,886,512 D510E probably damaging Het
Cyp2c40 A T 19: 39,777,971 N393K possibly damaging Het
Dcaf5 T C 12: 80,364,069 Y294C probably damaging Het
Dclk3 T A 9: 111,469,020 M544K probably benign Het
Doxl2 A T 6: 48,975,915 Y258F probably damaging Het
Ell3 A T 2: 121,439,465 F388I probably damaging Het
Fam208b T C 13: 3,575,543 K1469R probably benign Het
Fam78b A G 1: 167,078,760 I163V probably damaging Het
Gnptab T C 10: 88,434,081 L882P probably damaging Het
Herc2 A T 7: 56,204,733 D3802V possibly damaging Het
Hs3st5 A G 10: 36,833,414 E315G probably benign Het
Idh3b A T 2: 130,284,054 probably null Het
Lama4 G A 10: 39,073,643 E911K probably damaging Het
Macf1 A G 4: 123,511,007 I436T probably damaging Het
Mgam C A 6: 40,759,780 S871* probably null Het
Mtmr7 A G 8: 40,560,882 S212P probably damaging Het
Mylk2 A G 2: 152,919,416 T480A probably damaging Het
Myo3a A T 2: 22,282,626 N191I probably damaging Het
Nanog C T 6: 122,711,775 S105F probably damaging Het
Nanos2 A G 7: 18,987,639 Y12C probably damaging Het
Nsg1 C T 5: 38,155,643 V71I probably benign Het
Olfr1368 C T 13: 21,142,167 V297I probably benign Het
Olfr1458 G T 19: 13,103,204 Y33* probably null Het
Olfr1512 A T 14: 52,372,951 I34N probably damaging Het
Olfr211 T C 6: 116,494,425 L272S probably benign Het
Olfr643 A T 7: 104,058,723 I293N probably damaging Het
Pcdhb17 A G 18: 37,486,648 Q497R probably benign Het
Pcsk7 C A 9: 45,925,986 P536Q probably damaging Het
Phactr4 G A 4: 132,377,248 T256I probably benign Het
Phyhip A G 14: 70,467,291 K317E probably damaging Het
Pkhd1 C T 1: 20,534,558 G1178R probably damaging Het
Ppp1r9a G A 6: 5,057,557 G544D probably damaging Het
Ptpn3 T C 4: 57,225,775 D480G probably benign Het
Ptprn2 A T 12: 117,253,615 K918N probably damaging Het
Rab42 T C 4: 132,302,347 D188G probably benign Het
Rasgrf2 C A 13: 91,983,676 D20Y probably damaging Het
Ryr2 G A 13: 11,779,266 T942I probably benign Het
Sbpl T C 17: 23,953,354 K197R unknown Het
Slc44a1 T A 4: 53,561,069 V595E probably damaging Het
Slc6a19 A G 13: 73,684,344 M410T probably damaging Het
Sntb1 A T 15: 55,647,955 L411H probably damaging Het
Synj2 A G 17: 6,023,665 K245E probably damaging Het
Tmem131 G A 1: 36,825,478 T558I probably damaging Het
Tnrc18 A T 5: 142,771,533 S1078T unknown Het
Trmu T A 15: 85,897,101 probably null Het
Ttn A T 2: 76,891,086 probably benign Het
Tyw3 T C 3: 154,587,523 T172A probably benign Het
Vldlr T C 19: 27,239,721 I348T possibly damaging Het
Zfp114 A G 7: 24,177,769 D12G probably damaging Het
Other mutations in Bmp8a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01362:Bmp8a APN 4 123313301 missense probably damaging 1.00
IGL01816:Bmp8a APN 4 123316397 missense probably damaging 1.00
IGL02423:Bmp8a APN 4 123316427 missense possibly damaging 0.75
leanmean UTSW 4 123313301 missense probably damaging 1.00
R0437:Bmp8a UTSW 4 123316897 missense probably benign 0.28
R0540:Bmp8a UTSW 4 123315930 missense probably damaging 1.00
R1791:Bmp8a UTSW 4 123324585 missense possibly damaging 0.91
R1832:Bmp8a UTSW 4 123325092 splice site probably benign
R2215:Bmp8a UTSW 4 123325118 missense probably benign 0.03
R4502:Bmp8a UTSW 4 123342399 missense probably damaging 1.00
R4803:Bmp8a UTSW 4 123324569 missense possibly damaging 0.94
R5179:Bmp8a UTSW 4 123313301 missense probably damaging 1.00
R5350:Bmp8a UTSW 4 123313295 missense probably damaging 1.00
R6166:Bmp8a UTSW 4 123324678 missense probably benign 0.03
R6853:Bmp8a UTSW 4 123342683 missense unknown
R6982:Bmp8a UTSW 4 123325141 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCAAAGGTCAAGGGTCTCCAATCAG -3'
(R):5'- TCAGGTTATCACTAGCAGGGATGCC -3'

Sequencing Primer
(F):5'- GTCTCCAATCAGACCTACTTGAAGG -3'
(R):5'- TGGCCCCGACACATCAG -3'
Posted On2014-03-14