Incidental Mutation 'R5549:Bmp8b'
ID 435026
Institutional Source Beutler Lab
Gene Symbol Bmp8b
Ensembl Gene ENSMUSG00000002384
Gene Name bone morphogenetic protein 8b
Synonyms Op3
MMRRC Submission 043106-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.180) question?
Stock # R5549 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 122998101-123019887 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 123018278 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 383 (V383A)
Ref Sequence ENSEMBL: ENSMUSP00000002457 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002457] [ENSMUST00000030404]
AlphaFold P55105
Predicted Effect probably damaging
Transcript: ENSMUST00000002457
AA Change: V383A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002457
Gene: ENSMUSG00000002384
AA Change: V383A

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: ENSMUST00000030404
SMART Domains Protein: ENSMUSP00000030404
Gene: ENSMUSG00000028651

DomainStartEndE-ValueType
RRM 7 80 1.36e-25 SMART
low complexity region 111 131 N/A INTRINSIC
Pfam:Pro_isomerase 143 299 1.6e-47 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126558
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136466
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151850
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 95.9%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,384,993 (GRCm39) E324G possibly damaging Het
Acad8 C T 9: 26,896,847 (GRCm39) R204Q probably damaging Het
Adgrg7 T G 16: 56,570,790 (GRCm39) T413P probably damaging Het
Ankrd11 A G 8: 123,617,117 (GRCm39) I2224T probably benign Het
Arhgap23 A G 11: 97,357,394 (GRCm39) D964G probably damaging Het
Atf6b A G 17: 34,870,657 (GRCm39) D367G probably damaging Het
Axdnd1 A G 1: 156,226,104 (GRCm39) L131P probably damaging Het
C5ar2 A G 7: 15,970,868 (GRCm39) V353A probably damaging Het
Ccr5 C A 9: 123,925,408 (GRCm39) A337E probably benign Het
Cftr G A 6: 18,227,953 (GRCm39) V382I probably benign Het
Csmd3 G C 15: 48,048,753 (GRCm39) S446C probably damaging Het
Cyp2d12 A G 15: 82,440,498 (GRCm39) T96A probably benign Het
Diaph3 T G 14: 87,216,106 (GRCm39) I465L probably benign Het
Fabp3 A G 4: 130,209,018 (GRCm39) *134W probably null Het
Fgf22 G T 10: 79,592,696 (GRCm39) M130I probably damaging Het
Flnc G A 6: 29,453,690 (GRCm39) V1792M probably damaging Het
Grik3 G A 4: 125,579,838 (GRCm39) A528T possibly damaging Het
Hecw2 G A 1: 53,964,850 (GRCm39) R659W possibly damaging Het
Hmbs C T 9: 44,250,774 (GRCm39) probably null Het
Ift122 T G 6: 115,868,983 (GRCm39) L490R probably damaging Het
Igkv4-63 T C 6: 69,355,116 (GRCm39) H55R probably damaging Het
Itga4 A T 2: 79,086,611 (GRCm39) N96I probably damaging Het
Kcna7 A T 7: 45,056,063 (GRCm39) H93L probably damaging Het
Klhdc7b A G 15: 89,271,562 (GRCm39) I815V probably benign Het
Lcmt1 G A 7: 123,027,330 (GRCm39) E298K probably damaging Het
Ly6g6f A G 17: 35,302,333 (GRCm39) V68A possibly damaging Het
Map3k8 C T 18: 4,340,762 (GRCm39) C184Y probably damaging Het
Mcemp1 A G 8: 3,718,340 (GRCm39) T183A possibly damaging Het
Mobp T G 9: 119,996,876 (GRCm39) S2R probably damaging Het
Mprip A G 11: 59,651,644 (GRCm39) S1783G probably benign Het
Mterf3 C A 13: 67,076,321 (GRCm39) A129S probably benign Het
Nfkb2 G T 19: 46,296,006 (GRCm39) E170D probably benign Het
Nr2c1 A G 10: 94,003,558 (GRCm39) T239A probably benign Het
Odr4 A G 1: 150,247,909 (GRCm39) S325P possibly damaging Het
Oplah G A 15: 76,182,466 (GRCm39) A963V probably damaging Het
Or13a26 A G 7: 140,284,712 (GRCm39) probably null Het
Parp14 C T 16: 35,661,505 (GRCm39) S1481N probably benign Het
Prxl2a T C 14: 40,726,013 (GRCm39) K44E possibly damaging Het
Rictor C T 15: 6,816,391 (GRCm39) T1221M probably damaging Het
Rpe G A 1: 66,755,163 (GRCm39) D182N probably damaging Het
Slc24a3 C A 2: 145,448,784 (GRCm39) P443T probably damaging Het
Slc25a47 T C 12: 108,822,143 (GRCm39) *311Q probably null Het
Sox2 C G 3: 34,705,142 (GRCm39) A193G probably benign Het
Svep1 T C 4: 58,057,954 (GRCm39) S3284G probably benign Het
Zfp369 A T 13: 65,445,194 (GRCm39) H779L probably damaging Het
Zfp513 A T 5: 31,357,947 (GRCm39) L144Q possibly damaging Het
Zfp526 T C 7: 24,925,109 (GRCm39) F456S possibly damaging Het
Zfp791 C T 8: 85,836,835 (GRCm39) G343D probably damaging Het
Zfp941 A C 7: 140,388,021 (GRCm39) I664S possibly damaging Het
Zkscan3 A G 13: 21,578,233 (GRCm39) V189A 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
R5509:Bmp8b UTSW 4 123,008,369 (GRCm39) missense possibly damaging 0.78
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'- GCTCTAGCTAGTCAAAGGCAC -3'
(R):5'- AGGACCATCTTCTCAGCCTTG -3'

Sequencing Primer
(F):5'- CTAGCTAGTCAAAGGCACGGGAAG -3'
(R):5'- TCTTCTCAGCCTTGGCAAAAAG -3'
Posted On 2016-10-24