Incidental Mutation 'R5509:Bmp8b'
ID 431067
Institutional Source Beutler Lab
Gene Symbol Bmp8b
Ensembl Gene ENSMUSG00000002384
Gene Name bone morphogenetic protein 8b
Synonyms Op3
MMRRC Submission 043070-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.180) question?
Stock # R5509 (G1)
Quality Score 130
Status Not validated
Chromosome 4
Chromosomal Location 122998101-123019887 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 123008369 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 112 (D112N)
Ref Sequence ENSEMBL: ENSMUSP00000002457 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002457] [ENSMUST00000102648]
AlphaFold P55105
Predicted Effect possibly damaging
Transcript: ENSMUST00000002457
AA Change: D112N

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000002457
Gene: ENSMUSG00000002384
AA Change: D112N

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:TGFb_propeptide 26 248 2.7e-62 PFAM
TGFB 298 399 2.83e-59 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102648
SMART Domains Protein: ENSMUSP00000099708
Gene: ENSMUSG00000076438

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
CoA_trans 43 272 2.02e-79 SMART
CoA_trans 301 499 5.07e-71 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151850
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192482
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194481
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.4%
  • 10x: 95.5%
  • 20x: 91.6%
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. The encoded protein may play a role in the generation of primordial germ cells, and has been shown to stimulate thermogenesis in brown adipose tissue. Male mice lacking a functional copy of this gene exhibit variable degrees of germ-cell deficiency. Homozygous knockout mice of both sexes exhibit impaired thermogenesis and reduced metabolic rate, resulting in weight gain. 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: Incidence of lethality among homozygous null mutants is variable depending on genetic background and due to allantoic and embryonic abnormalities. Heterozygous and surviving homozygous males exhibit varying degrees of germ cell deficiency and infertility, also background dependent. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 G C 17: 46,635,185 (GRCm39) Q273E probably benign Het
Acly C T 11: 100,405,805 (GRCm39) R329Q probably damaging Het
Acsm2 T C 7: 119,172,840 (GRCm39) S152P probably damaging Het
Adamtsl4 A T 3: 95,588,667 (GRCm39) I515N probably benign Het
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Atp9a T C 2: 168,481,857 (GRCm39) D879G probably damaging Het
Camk2d T C 3: 126,633,965 (GRCm39) W496R probably damaging Het
Ccdc192 G A 18: 57,671,156 (GRCm39) probably null Het
Cflar T C 1: 58,791,551 (GRCm39) F285L probably benign Het
Cox16 T C 12: 81,519,032 (GRCm39) T176A probably benign Het
Cux1 G T 5: 136,304,171 (GRCm39) A1214D probably benign Het
Cyb5d1 C A 11: 69,284,561 (GRCm39) probably null Het
Dennd6b G A 15: 89,069,225 (GRCm39) P575S probably damaging Het
Fbxl2 A T 9: 113,814,415 (GRCm39) probably null Het
Gfpt2 T C 11: 49,717,973 (GRCm39) F483L possibly damaging Het
Glrx3 T C 7: 137,046,751 (GRCm39) C48R probably damaging Het
Invs G A 4: 48,396,337 (GRCm39) V281M probably damaging Het
Kif13a G A 13: 46,905,591 (GRCm39) A784V probably benign Het
Kmt2d T C 15: 98,737,557 (GRCm39) probably benign Het
Lmod2 A G 6: 24,603,888 (GRCm39) T288A probably damaging Het
Lrrc37a T C 11: 103,391,361 (GRCm39) K1355E probably benign Het
Magi3 A T 3: 103,922,818 (GRCm39) S1300T probably benign Het
Mdm2 A C 10: 117,526,517 (GRCm39) D307E probably damaging Het
Mllt6 G A 11: 97,560,326 (GRCm39) S210N possibly damaging Het
Mroh4 T C 15: 74,478,003 (GRCm39) Y901C probably benign Het
Mtmr14 G T 6: 113,230,768 (GRCm39) probably null Het
Mug2 A T 6: 122,061,340 (GRCm39) Q1420L possibly damaging Het
Net1 T C 13: 3,934,320 (GRCm39) Q459R probably benign Het
Nle1 T C 11: 82,794,008 (GRCm39) R343G possibly damaging Het
Npat C A 9: 53,481,542 (GRCm39) N1083K probably benign Het
Nrp1 G A 8: 129,152,396 (GRCm39) G202R possibly damaging Het
Nsun4 C T 4: 115,908,974 (GRCm39) V529I possibly damaging Het
Or4b1d T A 2: 89,969,236 (GRCm39) L82F probably damaging Het
Or4z4 T A 19: 12,076,341 (GRCm39) I221F possibly damaging Het
Or5b117 A T 19: 13,431,332 (GRCm39) L183Q probably damaging Het
Or8g21 T C 9: 38,905,924 (GRCm39) D269G probably benign Het
Podxl A T 6: 31,503,548 (GRCm39) N264K probably benign Het
Ptprm C T 17: 66,996,353 (GRCm39) A1245T probably damaging Het
Rdh12 T A 12: 79,257,558 (GRCm39) probably null Het
Ryr2 T A 13: 11,760,487 (GRCm39) Y1532F probably damaging Het
Senp2 T C 16: 21,859,272 (GRCm39) F441S probably damaging Het
Snap23 C A 2: 120,425,346 (GRCm39) P111T probably benign Het
Sox2 A G 3: 34,704,938 (GRCm39) D125G probably damaging Het
Syne2 T C 12: 75,968,018 (GRCm39) W923R probably damaging Het
Tbc1d2b T C 9: 90,101,022 (GRCm39) E656G probably damaging Het
Tbcd A G 11: 121,492,838 (GRCm39) T892A probably benign Het
Tg A G 15: 66,699,142 (GRCm39) I24V probably benign Het
Trpm3 A T 19: 22,964,622 (GRCm39) K1372N probably damaging Het
Ubc A T 5: 125,464,339 (GRCm39) N329K probably benign Het
Vmn2r106 T A 17: 20,498,684 (GRCm39) H409L probably damaging Het
Wdfy3 T A 5: 102,009,314 (GRCm39) N2751Y possibly damaging Het
Zfp518a T A 19: 40,903,845 (GRCm39) I1258K possibly damaging Het
Zfp91 T C 19: 12,756,451 (GRCm39) E131G probably damaging Het
Zfyve26 T A 12: 79,293,295 (GRCm39) R2027W probably damaging Het
Other mutations in Bmp8b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00733:Bmp8b APN 4 123,018,202 (GRCm39) missense probably benign 0.19
R0334:Bmp8b UTSW 4 123,008,553 (GRCm39) splice site probably null
R0441:Bmp8b UTSW 4 123,018,308 (GRCm39) missense probably damaging 1.00
R0472:Bmp8b UTSW 4 123,015,692 (GRCm39) missense probably benign 0.06
R0609:Bmp8b UTSW 4 123,015,692 (GRCm39) missense probably benign 0.06
R0732:Bmp8b UTSW 4 122,999,199 (GRCm39) missense unknown
R1221:Bmp8b UTSW 4 123,008,504 (GRCm39) missense probably damaging 1.00
R2200:Bmp8b UTSW 4 123,016,815 (GRCm39) missense possibly damaging 0.81
R3847:Bmp8b UTSW 4 123,009,961 (GRCm39) unclassified probably benign
R4003:Bmp8b UTSW 4 123,015,671 (GRCm39) unclassified probably benign
R4777:Bmp8b UTSW 4 123,015,793 (GRCm39) missense possibly damaging 0.61
R4834:Bmp8b UTSW 4 123,016,843 (GRCm39) missense probably damaging 1.00
R4911:Bmp8b UTSW 4 123,009,030 (GRCm39) missense probably damaging 1.00
R5207:Bmp8b UTSW 4 123,009,714 (GRCm39) unclassified probably benign
R5549:Bmp8b UTSW 4 123,018,278 (GRCm39) missense probably damaging 1.00
R5795:Bmp8b UTSW 4 123,015,761 (GRCm39) missense possibly damaging 0.59
R6142:Bmp8b UTSW 4 123,009,043 (GRCm39) missense probably benign
R7549:Bmp8b UTSW 4 122,999,448 (GRCm39) missense possibly damaging 0.61
R7712:Bmp8b UTSW 4 123,018,257 (GRCm39) missense possibly damaging 0.90
R8245:Bmp8b UTSW 4 123,008,532 (GRCm39) missense probably benign 0.01
R9788:Bmp8b UTSW 4 122,999,369 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TATGAGAGGCAGCACTGTGAC -3'
(R):5'- GCTCTTGGACCACTTCGAACATG -3'

Sequencing Primer
(F):5'- AGGCAGCACTGTGACTGTCTG -3'
(R):5'- GACCACTTCGAACATGCTGATGTG -3'
Posted On 2016-10-05