Incidental Mutation 'R5829:Bmpr1b'
ID 450315
Institutional Source Beutler Lab
Gene Symbol Bmpr1b
Ensembl Gene ENSMUSG00000052430
Gene Name bone morphogenetic protein receptor, type 1B
Synonyms Acvrlk6, Alk6, CFK-43a, BMPR-IB
Accession Numbers
Essential gene? Possibly essential (E-score: 0.598) question?
Stock # R5829 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 141542897-141875186 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 141550918 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 391 (H391R)
Ref Sequence ENSEMBL: ENSMUSP00000101839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029948] [ENSMUST00000098568] [ENSMUST00000106230] [ENSMUST00000106232] [ENSMUST00000131273]
AlphaFold P36898
Predicted Effect probably benign
Transcript: ENSMUST00000029948
AA Change: H391R

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000029948
Gene: ENSMUSG00000052430
AA Change: H391R

DomainStartEndE-ValueType
Pfam:Activin_recp 30 110 2.6e-15 PFAM
transmembrane domain 127 149 N/A INTRINSIC
GS 174 204 4.58e-13 SMART
Blast:STYKc 210 491 1e-30 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000098568
AA Change: H391R

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000096167
Gene: ENSMUSG00000052430
AA Change: H391R

DomainStartEndE-ValueType
Pfam:Activin_recp 30 110 2.2e-15 PFAM
transmembrane domain 127 149 N/A INTRINSIC
GS 174 204 4.58e-13 SMART
Blast:STYKc 210 491 1e-30 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000106230
AA Change: H391R

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000101837
Gene: ENSMUSG00000052430
AA Change: H391R

DomainStartEndE-ValueType
Pfam:Activin_recp 30 110 2.6e-15 PFAM
transmembrane domain 127 149 N/A INTRINSIC
GS 174 204 4.58e-13 SMART
Blast:STYKc 210 491 1e-30 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000106232
AA Change: H391R

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000101839
Gene: ENSMUSG00000052430
AA Change: H391R

DomainStartEndE-ValueType
Pfam:Activin_recp 30 110 2.2e-15 PFAM
transmembrane domain 127 149 N/A INTRINSIC
GS 174 204 4.58e-13 SMART
Blast:STYKc 210 491 1e-30 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000131273
SMART Domains Protein: ENSMUSP00000117478
Gene: ENSMUSG00000052430

DomainStartEndE-ValueType
PDB:3EVS|C 13 47 1e-18 PDB
SCOP:d1es7b_ 28 47 2e-4 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a serine/threonine kinase that functions as a receptor for bone morphogenetic proteins (BMPs). The encoded protein is a type I receptor, and forms a complex of two type II and two type I receptors at the cell membrane. This complex signals downstream to activate SMAD transcriptional regulators. This signaling is important in skeletal and bone development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
PHENOTYPE: Mutantions of this gene affect the shape of the distal limb skeleton resulting in brachydactyly or failure to generate digit cartilage. Furthermore, inactivation results in female sterility due to abnormal oestrus cyclicity as well as retinal abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b C A 11: 109,868,639 (GRCm39) G175V probably damaging Het
Atp6v1e2 T C 17: 87,252,144 (GRCm39) R85G probably benign Het
Camsap3 A G 8: 3,647,899 (GRCm39) H69R probably damaging Het
Cimip2a G A 2: 25,108,869 (GRCm39) probably null Het
Col12a1 C T 9: 79,540,955 (GRCm39) G2391R probably damaging Het
Dab2ip ATCCT ATCCTCCT 2: 35,597,787 (GRCm39) probably benign Het
Epha4 G A 1: 77,421,631 (GRCm39) L284F probably benign Het
Fat4 T C 3: 39,061,454 (GRCm39) S4346P probably damaging Het
Fbxo22 T A 9: 55,125,596 (GRCm39) probably null Het
Gcc1 C A 6: 28,419,690 (GRCm39) probably benign Het
Gdf10 T C 14: 33,654,674 (GRCm39) S394P probably damaging Het
Gdf9 C T 11: 53,324,516 (GRCm39) T95M probably benign Het
Gpr179 G A 11: 97,226,524 (GRCm39) S1877L probably benign Het
Gtf2i A G 5: 134,292,547 (GRCm39) V380A probably damaging Het
Il17c G A 8: 123,148,970 (GRCm39) R38Q probably damaging Het
Il17rd G A 14: 26,814,042 (GRCm39) probably null Het
Iqch C T 9: 63,332,639 (GRCm39) probably null Het
Lrrc37 C T 11: 103,432,712 (GRCm39) E1310K possibly damaging Het
Mpp4 A T 1: 59,168,101 (GRCm39) S456R probably damaging Het
Nek10 T C 14: 14,865,404 (GRCm38) Y601H probably damaging Het
Nrxn2 C T 19: 6,540,879 (GRCm39) P936L probably benign Het
Or8b44 T A 9: 38,410,545 (GRCm39) Y193* probably null Het
Pcdhb9 T C 18: 37,534,942 (GRCm39) V312A probably damaging Het
Pex5l T C 3: 33,060,139 (GRCm39) T211A probably benign Het
Pik3c2a T C 7: 115,972,049 (GRCm39) T794A probably benign Het
Pla2g6 A G 15: 79,171,893 (GRCm39) F710L possibly damaging Het
Repin1 A T 6: 48,571,766 (GRCm39) probably benign Het
Rev3l A T 10: 39,682,902 (GRCm39) E340V probably damaging Het
Ryr3 A G 2: 112,690,076 (GRCm39) S1158P probably damaging Het
S100a16 A T 3: 90,449,454 (GRCm39) Q43L possibly damaging Het
Scg2 A G 1: 79,414,637 (GRCm39) S29P probably damaging Het
Sfrp5 T C 19: 42,190,095 (GRCm39) Y119C probably damaging Het
Sh3tc2 A G 18: 62,123,986 (GRCm39) T916A probably benign Het
Smpd3 A G 8: 106,991,512 (GRCm39) V347A probably benign Het
Tmem212 C A 3: 27,939,081 (GRCm39) C135F possibly damaging Het
Unc13c T A 9: 73,600,650 (GRCm39) N1365Y probably benign Het
Usp13 G T 3: 32,940,672 (GRCm39) G395C possibly damaging Het
Vmn2r68 T C 7: 84,886,812 (GRCm39) N34S probably benign Het
Other mutations in Bmpr1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01022:Bmpr1b APN 3 141,577,099 (GRCm39) missense probably damaging 1.00
IGL01394:Bmpr1b APN 3 141,568,742 (GRCm39) critical splice donor site probably null
IGL02078:Bmpr1b APN 3 141,576,498 (GRCm39) missense possibly damaging 0.63
IGL02315:Bmpr1b APN 3 141,563,290 (GRCm39) missense probably damaging 1.00
IGL02600:Bmpr1b APN 3 141,546,488 (GRCm39) missense probably damaging 1.00
IGL02709:Bmpr1b APN 3 141,562,314 (GRCm39) missense probably damaging 1.00
IGL02972:Bmpr1b APN 3 141,576,519 (GRCm39) missense probably benign 0.00
IGL03305:Bmpr1b APN 3 141,548,785 (GRCm39) splice site probably benign
PIT4366001:Bmpr1b UTSW 3 141,586,224 (GRCm39) missense probably benign
R0026:Bmpr1b UTSW 3 141,576,494 (GRCm39) missense probably benign 0.00
R0026:Bmpr1b UTSW 3 141,576,494 (GRCm39) missense probably benign 0.00
R0242:Bmpr1b UTSW 3 141,546,437 (GRCm39) missense probably damaging 1.00
R0242:Bmpr1b UTSW 3 141,546,437 (GRCm39) missense probably damaging 1.00
R0463:Bmpr1b UTSW 3 141,563,191 (GRCm39) missense possibly damaging 0.53
R0880:Bmpr1b UTSW 3 141,576,557 (GRCm39) nonsense probably null
R1449:Bmpr1b UTSW 3 141,577,134 (GRCm39) missense possibly damaging 0.79
R1815:Bmpr1b UTSW 3 141,586,124 (GRCm39) missense probably benign 0.03
R1852:Bmpr1b UTSW 3 141,563,163 (GRCm39) critical splice donor site probably null
R1971:Bmpr1b UTSW 3 141,563,333 (GRCm39) missense probably damaging 1.00
R2064:Bmpr1b UTSW 3 141,576,568 (GRCm39) missense probably benign 0.00
R2299:Bmpr1b UTSW 3 141,550,963 (GRCm39) missense probably damaging 1.00
R2912:Bmpr1b UTSW 3 141,586,139 (GRCm39) missense probably benign 0.00
R4899:Bmpr1b UTSW 3 141,546,444 (GRCm39) missense probably damaging 1.00
R4960:Bmpr1b UTSW 3 141,576,546 (GRCm39) missense probably damaging 1.00
R4970:Bmpr1b UTSW 3 141,550,948 (GRCm39) missense probably damaging 1.00
R5331:Bmpr1b UTSW 3 141,562,176 (GRCm39) missense probably damaging 1.00
R5607:Bmpr1b UTSW 3 141,563,283 (GRCm39) missense possibly damaging 0.70
R5608:Bmpr1b UTSW 3 141,563,283 (GRCm39) missense possibly damaging 0.70
R5855:Bmpr1b UTSW 3 141,577,146 (GRCm39) missense possibly damaging 0.76
R5933:Bmpr1b UTSW 3 141,577,128 (GRCm39) makesense probably null
R6310:Bmpr1b UTSW 3 141,570,297 (GRCm39) missense probably damaging 0.97
R6469:Bmpr1b UTSW 3 141,562,222 (GRCm39) missense possibly damaging 0.95
R6826:Bmpr1b UTSW 3 141,563,167 (GRCm39) missense probably damaging 1.00
R7167:Bmpr1b UTSW 3 141,568,841 (GRCm39) missense probably benign 0.03
R7526:Bmpr1b UTSW 3 141,562,360 (GRCm39) missense probably damaging 1.00
R8136:Bmpr1b UTSW 3 141,562,143 (GRCm39) missense probably damaging 1.00
R8518:Bmpr1b UTSW 3 141,563,343 (GRCm39) missense possibly damaging 0.95
R8933:Bmpr1b UTSW 3 141,562,369 (GRCm39) missense probably damaging 0.99
R8949:Bmpr1b UTSW 3 141,586,203 (GRCm39) missense possibly damaging 0.83
R9675:Bmpr1b UTSW 3 141,563,321 (GRCm39) missense probably benign 0.00
Z1176:Bmpr1b UTSW 3 141,548,715 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- TCCTGGAAGGATTATGACTACATC -3'
(R):5'- CTGAGTTGCCAGTGACAAGC -3'

Sequencing Primer
(F):5'- ATGTGATATTGTACATAGCGTGCC -3'
(R):5'- AGTGACAAGCTCGCCCAG -3'
Posted On 2016-12-20