Incidental Mutation 'R0880:Bmpr1b'
ID 80453
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
MMRRC Submission 039047-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.598) question?
Stock # R0880 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 141542897-141875186 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 141576557 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Stop codon at position 92 (S92*)
Ref Sequence ENSEMBL: ENSMUSP00000101839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029948] [ENSMUST00000098568] [ENSMUST00000106230] [ENSMUST00000106232] [ENSMUST00000131273]
AlphaFold P36898
Predicted Effect probably null
Transcript: ENSMUST00000029948
AA Change: S92*
SMART Domains Protein: ENSMUSP00000029948
Gene: ENSMUSG00000052430
AA Change: S92*

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 null
Transcript: ENSMUST00000098568
AA Change: S92*
SMART Domains Protein: ENSMUSP00000096167
Gene: ENSMUSG00000052430
AA Change: S92*

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 null
Transcript: ENSMUST00000106230
AA Change: S92*
SMART Domains Protein: ENSMUSP00000101837
Gene: ENSMUSG00000052430
AA Change: S92*

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 null
Transcript: ENSMUST00000106232
AA Change: S92*
SMART Domains Protein: ENSMUSP00000101839
Gene: ENSMUSG00000052430
AA Change: S92*

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: 99.3%
  • 3x: 98.6%
  • 10x: 96.6%
  • 20x: 92.5%
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A G 6: 128,537,609 (GRCm39) Y701H possibly damaging Het
Akap6 A G 12: 53,186,291 (GRCm39) D1235G possibly damaging Het
Arhgef18 A G 8: 3,439,032 (GRCm39) probably benign Het
Astn2 A G 4: 65,566,567 (GRCm39) Y812H probably damaging Het
Camsap2 T C 1: 136,208,708 (GRCm39) D934G probably benign Het
Cdh23 A G 10: 60,242,200 (GRCm39) V1076A possibly damaging Het
Cdhr1 T C 14: 36,802,591 (GRCm39) D624G possibly damaging Het
Cfap57 A T 4: 118,439,035 (GRCm39) Y830* probably null Het
Eml3 A G 19: 8,918,279 (GRCm39) D790G possibly damaging Het
Ess2 A G 16: 17,729,051 (GRCm39) V40A probably damaging Het
Gucy2c T C 6: 136,686,830 (GRCm39) probably null Het
Helz2 A C 2: 180,877,928 (GRCm39) S957A probably benign Het
Ifi209 T A 1: 173,472,379 (GRCm39) S407T probably damaging Het
Iftap T A 2: 101,406,455 (GRCm39) T158S probably benign Het
Muc6 T C 7: 141,217,270 (GRCm39) T2403A possibly damaging Het
Nfe2 T C 15: 103,157,689 (GRCm39) N101D probably damaging Het
Nsf A T 11: 103,804,198 (GRCm39) V178D possibly damaging Het
P4ha3 A G 7: 99,955,116 (GRCm39) T324A probably benign Het
Pdia3 G A 2: 121,262,858 (GRCm39) G275S probably damaging Het
Rhbdf1 T C 11: 32,163,432 (GRCm39) probably null Het
Samd9l G A 6: 3,377,064 (GRCm39) L66F probably damaging Het
Speg T C 1: 75,381,705 (GRCm39) F1024S probably damaging Het
Sspo A G 6: 48,452,869 (GRCm39) N2859S possibly damaging Het
Tnfrsf21 G A 17: 43,348,733 (GRCm39) W115* probably null 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
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
R5829:Bmpr1b UTSW 3 141,550,918 (GRCm39) missense probably benign 0.00
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'- GCAAACATTGTCAAGGCACCAATGAG -3'
(R):5'- AAGTAAGCCCTTTGTCATTGCTATCCC -3'

Sequencing Primer
(F):5'- GGCACCAATGAGTTTGGC -3'
(R):5'- GCTATCCCATGTTGAATAATTTGC -3'
Posted On 2013-11-07